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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:mineral metabolism disease
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Accession:DOID:0050032 term browser browse the term
Definition:An acquired metabolic disease that is characterized by abnormal mineral metabolism. (DO)
Synonyms:primary_id: RDO:9003951
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
aceruloplasminemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar Annotator: match by term: Aceruloplasminemia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:604290
OMIM
ClinVar
CTD
PMID:1458725, PMID:2016084, PMID:3574673, PMID:5675426, PMID:5912351, PMID:7539672, PMID:7708681, PMID:7820540, PMID:8641692, PMID:8789443, PMID:11756598, PMID:11909923, PMID:12351628, PMID:12572680, PMID:14719552, PMID:15082597, PMID:15654567, PMID:16629161, PMID:16775387, PMID:16831606, PMID:17710675, PMID:18200628, PMID:18414213, PMID:19095659, PMID:20801540, PMID:22243965, PMID:24033266, PMID:25089372, PMID:25741868, PMID:25864092, PMID:26777753, PMID:28012953, PMID:28258281, PMID:28492532 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Aceruloplasminemia
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar PMID:18414213, PMID:24033266, PMID:28492532 NCBI chr 2:104,789,423...104,832,964
Ensembl chr 2:104,789,423...104,830,898
JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20655381 NCBI chr 9:52,819,451...52,830,461
Ensembl chr 9:52,894,365...52,912,293
JBrowse link
Aicardi-Goutieres syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
DNA:mutations:exons:
CTD
ClinVar
PMID:9889202, PMID:12916015, PMID:15146470, PMID:16536805, PMID:19060901, PMID:20301648, PMID:22129056, PMID:23001123, PMID:23621630, PMID:24033266, PMID:24183309, PMID:24262145, PMID:24950769, PMID:25456137, PMID:25604658, PMID:25741868, PMID:26629815, PMID:26802932, PMID:28395385, PMID:28492532, PMID:29221912, PMID:23001123 RGD:11069491 NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome
ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
ClinVar PMID:23602593, PMID:24033266, PMID:24183309, PMID:25582466, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 8:117,797,954...117,811,989
Ensembl chr 8:117,797,842...117,811,975
JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24686847 NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
JBrowse link
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar NCBI chr 1:220,967,795...220,974,596
Ensembl chr 1:220,967,796...220,974,597
JBrowse link
G Rnaseh2a ribonuclease H2, subunit A ISO
ISS
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846
ClinVar
MouseDO
PMID:17846997, PMID:20131292, PMID:21454563, PMID:23592335, PMID:24033266 NCBI chr19:26,074,980...26,084,780
Ensembl chr19:26,074,987...26,084,679
JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16845400, PMID:17846997, PMID:18069026, PMID:18414213, PMID:18754903, PMID:19015152, PMID:19034401, PMID:19694776, PMID:20131292, PMID:21177854, PMID:22149989, PMID:24033266, PMID:25243380, PMID:25274781, PMID:25343331, PMID:25604658, PMID:25741868, PMID:26182405, PMID:26467025, PMID:26846091, PMID:26903602, PMID:27009121, PMID:28492532, PMID:28762473, PMID:30311386 NCBI chr15:45,422,010...45,472,792
Ensembl chr15:45,422,010...45,464,892
JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO
ISS
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846
ClinVar
MouseDO
PMID:28492532 NCBI chr 1:220,966,626...220,967,717
Ensembl chr 1:220,966,655...220,967,825
JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
CTD
ClinVar
PMID:19525956, PMID:20653736, PMID:21204240, PMID:22461318, PMID:22691373, PMID:22973040, PMID:23364794, PMID:24033266, PMID:25604658, PMID:25741868, PMID:27604406, PMID:28229507, PMID:28492532, PMID:30275001 NCBI chr 3:153,210,829...153,250,705
Ensembl chr 3:153,210,829...153,250,641
JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by OMIM:225750
ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16845398, PMID:23602593, PMID:24033266, PMID:24183309, PMID:25582466, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 8:117,796,127...117,797,427
Ensembl chr 8:117,796,128...117,797,427
JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:153,812,312...153,834,374
Ensembl chr 4:153,805,993...153,834,430
JBrowse link
Aicardi-Goutieres Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1, autosomal dominant
ClinVar PMID:16845398, PMID:16960810, PMID:17293595, PMID:17357087, PMID:17440703, PMID:17660818, PMID:17660820, PMID:17846997, PMID:18583934, PMID:18805785, PMID:20131292, PMID:20799324, PMID:20871604, PMID:21270825, PMID:21808053, PMID:21937424, PMID:22829693, PMID:23602593, PMID:23881107, PMID:23989343, PMID:24033266, PMID:24088041, PMID:24183309, PMID:24224166, PMID:24300241, PMID:25138095, PMID:25582466, PMID:25604658, PMID:25741868, PMID:25848017, PMID:25906927, PMID:26150267, PMID:26182405, PMID:26467025, PMID:26633542, PMID:26633545, PMID:26691497, PMID:26938784, PMID:27391121, PMID:28089741, PMID:28492532, PMID:28750028, PMID:29239743, PMID:29387804, PMID:30219631 NCBI chr 8:117,797,954...117,811,989
Ensembl chr 8:117,797,842...117,811,975
JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1, autosomal dominant
ClinVar
OMIM
PMID:16845398, PMID:16960810, PMID:17293595, PMID:17357087, PMID:17440703, PMID:17660818, PMID:17660820, PMID:17846997, PMID:18583934, PMID:18805785, PMID:20131292, PMID:20799324, PMID:20871604, PMID:21270825, PMID:21808053, PMID:21937424, PMID:22829693, PMID:23602593, PMID:23881107, PMID:23989343, PMID:24033266, PMID:24088041, PMID:24183309, PMID:24224166, PMID:24300241, PMID:25138095, PMID:25582466, PMID:25604658, PMID:25741868, PMID:25848017, PMID:25906927, PMID:26150267, PMID:26182405, PMID:26467025, PMID:26633542, PMID:26633545, PMID:26691497, PMID:26938784, PMID:27391121, PMID:28089741, PMID:28492532, PMID:28750028, PMID:29239743, PMID:29387804, PMID:30219631 NCBI chr 8:117,796,127...117,797,427
Ensembl chr 8:117,796,128...117,797,427
JBrowse link
Aicardi-Goutieres Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 2 ClinVar
OMIM
PMID:16845400, PMID:17846997, PMID:18069026, PMID:18414213, PMID:18754903, PMID:19015152, PMID:19034401, PMID:19694776, PMID:20131292, PMID:21177854, PMID:22149989, PMID:24033266, PMID:24183309, PMID:25243380, PMID:25274781, PMID:25343331, PMID:25500883, PMID:25604658, PMID:25741868, PMID:26182405, PMID:26467025, PMID:26846091, PMID:26903602, PMID:27009121, PMID:28492532, PMID:28762473, PMID:30311386 NCBI chr15:45,422,010...45,472,792
Ensembl chr15:45,422,010...45,464,892
JBrowse link
Aicardi-Goutieres Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 3 ClinVar NCBI chr 1:220,967,795...220,974,596
Ensembl chr 1:220,967,796...220,974,597
JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 3
ClinVar Annotator: match by OMIM:610329
OMIM
ClinVar
PMID:16845400, PMID:17846997, PMID:20131292, PMID:23322642, PMID:25500883, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29150899 NCBI chr 1:220,966,626...220,967,717
Ensembl chr 1:220,966,655...220,967,825
JBrowse link
Aicardi-Goutieres Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnaseh2a ribonuclease H2, subunit A ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 4
ClinVar Annotator: match by OMIM:610333
OMIM
ClinVar
PMID:15870678, PMID:16845400, PMID:17846997, PMID:20131292, PMID:21454563, PMID:23592335, PMID:24033266, PMID:24183309, PMID:24300241, PMID:25500883, PMID:25604658, PMID:25741868, PMID:26467025, PMID:27943079, PMID:28492532 NCBI chr19:26,074,980...26,084,780
Ensembl chr19:26,074,987...26,084,679
JBrowse link
Aicardi-Goutieres Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 5
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612952
OMIM
ClinVar
CTD
PMID:19525956, PMID:20358604, PMID:20653736, PMID:20842748, PMID:21102625, PMID:21204240, PMID:21402907, PMID:22174685, PMID:22461318, PMID:22691373, PMID:22973040, PMID:24033266, PMID:24035396, PMID:24183309, PMID:24316776, PMID:25604658, PMID:25741868, PMID:26467025, PMID:27604406, PMID:28229507, PMID:28492532, PMID:30275001 NCBI chr 3:153,210,829...153,250,705
Ensembl chr 3:153,210,829...153,250,641
JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 3:153,195,295...153,208,118
Ensembl chr 3:153,197,644...153,207,816
JBrowse link
Aicardi-Goutieres Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6
ClinVar Annotator: match by term: Aicardi-goutieres syndrome 6
ClinVar Annotator: match by OMIM:615010
OMIM
ClinVar
PMID:9889202, PMID:12916015, PMID:15146470, PMID:15955093, PMID:16536805, PMID:16817193, PMID:19017046, PMID:19060901, PMID:20301648, PMID:22129056, PMID:23001123, PMID:23621630, PMID:24033266, PMID:24183309, PMID:24262145, PMID:24950769, PMID:25243380, PMID:25326637, PMID:25456137, PMID:25604658, PMID:25741868, PMID:26372505, PMID:26629815, PMID:26802932, PMID:27937139, PMID:28395385, PMID:28492532, PMID:28561207, PMID:29221912, PMID:30311386 NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
JBrowse link
Aicardi-Goutieres Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7
ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7
ClinVar Annotator: match by OMIM:615846
OMIM
ClinVar
PMID:21070929, PMID:24686847, PMID:24995871, PMID:25243380, PMID:25620204, PMID:25741868, PMID:26284909, PMID:28319323, PMID:28492532, PMID:28605144, PMID:29782060, PMID:30219631, PMID:30311386, PMID:30593198, PMID:30965144, PMID:31898846 NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
JBrowse link
Albright's hereditary osteodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Albright hereditary osteodystrophy with multiple hormone resistance
DNA:deletions:exon:multiple
DNA:splice-site mutation
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS
OMIM
ClinVar
CTD
PMID:1505964, PMID:2109828, PMID:2122458, PMID:8072545, PMID:9876352, PMID:11784876, PMID:12024004, PMID:15711092, PMID:17299070, PMID:18553568, PMID:21823526, PMID:23796510, PMID:25219572, PMID:25741868, PMID:29072892, PMID:30311386, PMID:11095461, PMID:11600516 RGD:11568049, RGD:11568047 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Pthlh parathyroid hormone-like hormone ISS OMIM:103580 MouseDO NCBI chr 4:181,663,425...181,674,181 JBrowse link
amelogenesis imperfecta type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Enamel-renal syndrome
ClinVar Annotator: match by term: Amelogenesis imperfecta and gingival fibromatosis syndrome
OMIM
ClinVar
PMID:18597613, PMID:21549343, PMID:21990045, PMID:23434854, PMID:23468644, PMID:24196488, PMID:25741868 NCBI chr10:97,962,467...98,017,171
Ensembl chr10:97,962,693...98,018,014
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Enamel-renal syndrome
ClinVar Annotator: match by term: Amelogenesis imperfecta and gingival fibromatosis syndrome
ClinVar PMID:21990045, PMID:23434854, PMID:23468644, PMID:24196488, PMID:25741868 NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
JBrowse link
Aortic Calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor IEP associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat) RGD PMID:23497312 RGD:7244260 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Agt angiotensinogen IDA RGD PMID:23291307 RGD:8549476 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Atp5f1d ATP synthase F1 subunit delta treatment IEP associated with Hypercholesterolemia RGD PMID:26047104 RGD:11057945 NCBI chr 7:12,426,807...12,432,120
Ensembl chr 7:12,426,809...12,432,130
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO RGD PMID:15625282 RGD:13204716 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link
G Sod1 superoxide dismutase 1 IEP associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 IEP associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta RGD PMID:25430697 RGD:11038653 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 susceptibility IAGP DNA:missense mutation: :p.Y139C (416A>G) (rat) RGD PMID:19884975 RGD:2315841 NCBI chr 1:199,338,785...199,341,306
Ensembl chr 1:199,337,138...199,341,302
JBrowse link
Aortic Valve, Calcification of term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Cd40lg CD40 ligand treatment IDA RGD PMID:24374105 RGD:11352276 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: AORTIC VALVE, CALCIFICATION OF ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: AORTIC VALVE, CALCIFICATION OF ClinVar NCBI chr 3:175,701,278...175,709,465
Ensembl chr 3:175,701,280...175,709,465
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 severity ISO RGD PMID:15120829 RGD:12910476 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AORTIC VALVE, CALCIFICATION OF
ClinVar Annotator: match by term: AORTIC STENOSIS, CALCIFIC
CTD
ClinVar
PMID:16025100, PMID:16729972, PMID:24113472, PMID:24728327, PMID:25326637, PMID:25587027, PMID:25741868, PMID:26188975, PMID:26708639, PMID:26820064, PMID:27760138, PMID:28492532, PMID:29907982 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells RGD PMID:25722432, PMID:25722432 RGD:13207434, RGD:13207434 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Pth parathyroid hormone disease_progression IEP protein:increased expression:serum (rat) RGD PMID:22634235 RGD:7242900 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Slc20a1 solute carrier family 20 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chr 3:121,725,204...121,739,160
Ensembl chr 3:121,725,859...121,739,173
JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: AORTIC VALVE, CALCIFICATION OF ClinVar PMID:28492532, PMID:30796334 NCBI chr 8:68,897,746...68,967,221
Ensembl chr 8:68,898,296...68,966,108
JBrowse link
G Tbx20 T-box transcription factor 20 ISO ClinVar Annotator: match by term: AORTIC VALVE, CALCIFICATION OF ClinVar NCBI chr 8:25,849,394...25,904,570
Ensembl chr 8:25,850,962...25,904,570
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
arterial calcification of infancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25758222 NCBI chr 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO DNA:missense mutations:cds:p.G342V, p.Y371F (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.V246D (mouse)
DNA:mutations:multiple (human)
DNA:missense mutations, nonsense mutations, frameshift mutation:cds:multiple (human)
CTD PMID:15940697, PMID:23798568, PMID:20016754, PMID:12881724 RGD:1601044, RGD:13204734, RGD:6906932, RGD:731203 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link
autosomal dominant hypocalcemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amelx amelogenin, X-linked IEP RGD PMID:15721149 RGD:1599092 NCBI chr  X:26,439,197...26,450,495
Ensembl chr  X:26,439,197...26,450,495
JBrowse link
G Bglap bone gamma-carboxyglutamate protein IEP RGD PMID:2106357 RGD:6483581 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G Casr calcium-sensing receptor ISO DNA:missense mutation:cds:p.E128A (human)
DNA:missense mutation:cds:p.T151M (human)
DNA:missense mutation:cds:p.L723Q (mouse)
DNA:missense mutations:cds:multiple (human)
RGD PMID:7874174, PMID:20501971, PMID:15347804, PMID:8813042 RGD:1598940, RGD:7205656, RGD:7205497, RGD:7204717 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO RGD PMID:11416220 RGD:734871 NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
JBrowse link
G Pth parathyroid hormone IEP protein:increased expression:serum (rat) RGD PMID:22581996 RGD:7242904 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
autosomal dominant hypocalcemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by OMIM:601198
ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1
ClinVar Annotator: match by term: HYPOPARATHYROIDISM, AUTOSOMAL DOMINANT
ClinVar
OMIM
PMID:1706284, PMID:7874174, PMID:8636323, PMID:8698326, PMID:8702647, PMID:8733126, PMID:8813042, PMID:9253358, PMID:9661634, PMID:9920108, PMID:10023897, PMID:10217111, PMID:10487661, PMID:10770217, PMID:10912749, PMID:11134112, PMID:11136551, PMID:11152759, PMID:11161843, PMID:11248745, PMID:11580999, PMID:11701698, PMID:11733622, PMID:11807402, PMID:12018449, PMID:12040821, PMID:12050233, PMID:12052452, PMID:12067826, PMID:12107202, PMID:12191970, PMID:12239240, PMID:12241879, PMID:12574188, PMID:12574201, PMID:12733714, PMID:12915654, PMID:14508624, PMID:14519094, PMID:14997007, PMID:15531522, PMID:15598778, PMID:15864123, PMID:15879434, PMID:16497624, PMID:16608894, PMID:17018660, PMID:17039419, PMID:17117288, PMID:17309124, PMID:17320849, PMID:17332735, PMID:17555508, PMID:17698911, PMID:18328986, PMID:18680227, PMID:18756473, PMID:19694204, PMID:20119591, PMID:20164288, PMID:20602573, PMID:20668040, PMID:21414629, PMID:21521328, PMID:21645025, PMID:22024717, PMID:22192860, PMID:22422767, PMID:22789683, PMID:24033266, PMID:24133354, PMID:24297799, PMID:24823460, PMID:25137426, PMID:25292184, PMID:25326635, PMID:25705702, PMID:25741868, PMID:26107257, PMID:26166472, PMID:26467025, PMID:26646938, PMID:27157104, PMID:27957351, PMID:28492532, PMID:29846619 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
autosomal dominant hypocalcemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gna11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 2
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:6278146, PMID:23802536, PMID:24823460 NCBI chr 7:11,033,400...11,047,284
Ensembl chr 7:11,033,317...11,047,437
JBrowse link
Autosomal Dominant Hypocalcemia, with Bartter Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11152759, PMID:12107202, PMID:12191970, PMID:12241879, PMID:15005845, PMID:17048213, PMID:25741868 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
autosomal dominant hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf23 fibroblast growth factor 23 ISO DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human)
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant
DNA:missense mutation:cds:526C>T,p.R176W (human)
ClinVar Annotator: match by OMIM:193100
ClinVar
OMIM
PMID:1353055, PMID:5173181, PMID:9024275, PMID:11062477, PMID:11409890, PMID:11737582, PMID:11805436, PMID:12050201, PMID:12130585, PMID:12711740, PMID:12851820, PMID:12874285, PMID:15182416, PMID:15590700, PMID:15628294, PMID:15836777, PMID:15885032, PMID:16436388, PMID:17227222, PMID:17452648, PMID:17623664, PMID:17992255, PMID:18682534, PMID:18982401, PMID:21880793, PMID:22419710, PMID:24033266, PMID:25445451, PMID:26186302, PMID:26467025, PMID:28492532, PMID:11062477, PMID:19655082 RGD:1598933, RGD:10044239 NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082
JBrowse link
autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO
ISS
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312
ClinVar
MouseDO
NCBI chr14:6,889,851...6,923,961
Ensembl chr14:6,889,856...6,900,733
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO
ISS
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312
ClinVar
MouseDO
PMID:24033266, PMID:28492532 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link
basal ganglia calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfb platelet derived growth factor subunit B ISS OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISS OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISS OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr16:74,318,287...74,408,030
Ensembl chr16:74,317,899...74,408,030
JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Basal ganglia calcification ClinVar PMID:28492532, PMID:30311386 NCBI chr 3:113,999,600...114,064,438
Ensembl chr 3:113,999,719...114,065,170
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Basal ganglia calcification ClinVar PMID:30311386 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
JBrowse link
calcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahsg alpha-2-HS-glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16177000 NCBI chr11:81,711,269...81,717,594 JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:21193197 NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO associated with hypertension;protein:undercarboxylated:serum
CTD Direct Evidence: marker/mechanism
protein:increased expression:dermis:
CTD PMID:21335463, PMID:20197689, PMID:18422975 RGD:6483566, RGD:9068449 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G C6 complement C6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 2:54,460,333...54,533,801
Ensembl chr 2:54,466,280...54,533,797
JBrowse link
G Casp3 caspase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21193197, PMID:21335463 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl6 chemokine (C-C motif) ligand 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr10:70,798,118...70,802,750
Ensembl chr10:70,797,124...70,802,782
JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22267198 NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
JBrowse link
G Ctnnb1 catenin beta 1 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18340010 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12148126 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO associated with Breast Neoplasms;protein:increased expression:breast RGD PMID:18256879 RGD:2289923 NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
JBrowse link
G Fcgr1a Fc fragment of IgG receptor Ia ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 2:198,430,536...198,439,453
Ensembl chr 2:198,430,530...198,458,041
JBrowse link
G Fgf23 fibroblast growth factor 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082
JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr 3:52,174,469...52,212,395
Ensembl chr 3:52,175,547...52,212,412
JBrowse link
G Gpx1 glutathione peroxidase 1 susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P197L (human) RGD PMID:17825092 RGD:2306608 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Il18 interleukin 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Itgb1 integrin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18340010 NCBI chr19:61,677,512...61,725,537
Ensembl chr19:61,677,542...61,725,535
JBrowse link
G Itgb2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
JBrowse link
G Jak2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
JBrowse link
G Lcn2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546
JBrowse link
G Lsp1 lymphocyte-specific protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 1:215,628,750...215,662,505
Ensembl chr 1:215,628,785...215,662,504
JBrowse link
G Ly86 lymphocyte antigen 86 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr17:28,104,535...28,191,447
Ensembl chr17:28,104,589...28,191,436
JBrowse link
G Mgp matrix Gla protein ISO RGD PMID:15045141 RGD:1582501 NCBI chr 4:170,856,783...170,860,105
Ensembl chr 4:170,856,751...170,860,225
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15545515, PMID:21193197 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15545515, PMID:21193197 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22110751 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6143199 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 4:157,239,141...157,263,890
Ensembl chr 4:157,239,142...157,263,890
JBrowse link
G Pycard PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 1:199,438,029...199,439,062
Ensembl chr 1:199,437,832...199,439,210
JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr15:34,470,796...34,479,741
Ensembl chr15:34,470,796...34,479,741
JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr16:74,318,287...74,408,030
Ensembl chr16:74,317,899...74,408,030
JBrowse link
G Slc22a6 solute carrier family 22 member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12803500 NCBI chr 1:224,824,809...224,833,284
Ensembl chr 1:224,824,799...224,833,259
JBrowse link
G Snai2 snail family transcriptional repressor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr11:90,404,421...90,406,730
Ensembl chr11:90,403,333...90,406,797
JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr10:40,742,390...40,764,232
Ensembl chr10:40,742,400...40,764,185
JBrowse link
G Spn sialophorin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr 1:198,572,999...198,585,664
Ensembl chr 1:198,572,999...198,577,226
JBrowse link
G Spp1 secreted phosphoprotein 1 IEP
ISO
CTD Direct Evidence: marker/mechanism
protein:increased expression:dermis:
CTD PMID:21193197, PMID:21335463, PMID:18390899, PMID:18422975 RGD:6903869, RGD:9068449 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24142982 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21335463 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24142982 NCBI chr10:107,338,465...107,386,072
Ensembl chr10:107,338,465...107,386,072
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Xpr1 xenotropic and polytropic retrovirus receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr13:72,918,552...73,056,785
Ensembl chr13:72,918,490...73,056,875
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22267198, PMID:22387016, PMID:23869908, PMID:24033266, PMID:25182133, PMID:25741868, PMID:28492532 NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
JBrowse link
G Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:267,281,786...267,315,714
Ensembl chr 1:267,281,764...267,315,729
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar
PMID:16943371, PMID:18076099, PMID:22267198, PMID:22387016, PMID:22532422, PMID:22899577, PMID:23869908, PMID:24033266, PMID:24115768, PMID:25182133, PMID:25741868, PMID:28492532, PMID:29228254, PMID:29481669 NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr10:55,571,881...55,593,384
Ensembl chr10:55,571,118...55,589,978
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stn1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 ClinVar
OMIM
PMID:27432940 NCBI chr 1:267,281,786...267,315,714
Ensembl chr 1:267,281,764...267,315,729
JBrowse link
Cole Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by OMIM:615522 OMIM
ClinVar
PMID:19380683, PMID:24075184 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link
Coronary Artery Calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf11b TNF receptor superfamily member 11B severity ISO associated with Kidney Failure, Chronic RGD PMID:22943310 RGD:7205482 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
JBrowse link
CREST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpc centromere protein C ISO associated with Anticentromere antibody positivity RGD PMID:25220385 RGD:27372886 NCBI chr14:23,611,909...23,670,314
Ensembl chr14:23,611,735...23,670,475
JBrowse link
G Fbn1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
dehydrated hereditary stomatocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema
ClinVar Annotator: match by OMIM:194380
OMIM
ClinVar
PMID:5559828, PMID:9827909, PMID:16898969, PMID:17253968, PMID:21944700, PMID:22529292, PMID:23479567, PMID:23695678, PMID:24033266, PMID:25741868, PMID:29576450 NCBI chr19:55,305,494...55,367,680
Ensembl chr19:55,305,496...55,367,353
JBrowse link
diffuse idiopathic skeletal hyperostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a1 solute carrier family 29 member 1 ISS OMIM:106400 MouseDO NCBI chr 9:17,784,468...17,799,008
Ensembl chr 9:17,784,468...17,799,005
JBrowse link
familial hypocalciuric hypercalcemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:791660, PMID:1302026, PMID:1889203, PMID:7054696, PMID:7717399, PMID:7726161, PMID:7791841, PMID:7874174, PMID:7916660, PMID:8132750, PMID:8636323, PMID:8675635, PMID:8702647, PMID:8733126, PMID:8878438, PMID:9011580, PMID:9039332, PMID:9109436, PMID:9217223, PMID:9253359, PMID:9395465, PMID:9422777, PMID:10023897, PMID:10077597, PMID:10217111, PMID:10468915, PMID:10488104, PMID:10843194, PMID:10885494, PMID:10912749, PMID:10912782, PMID:10971459, PMID:11102444, PMID:11161843, PMID:11248745, PMID:11580999, PMID:11733622, PMID:11762699, PMID:11763315, PMID:11807402, PMID:11889203, PMID:12018449, PMID:12040821, PMID:12052452, PMID:12095982, PMID:12114500, PMID:12239240, PMID:12574201, PMID:12580936, PMID:12890593, PMID:14508624, PMID:14714270, PMID:14997007, PMID:15531522, PMID:15551332, PMID:15572418, PMID:15591042, PMID:15751724, PMID:15864123, PMID:15879434, PMID:15963484, PMID:16491288, PMID:16497624, PMID:16598859, PMID:16649980, PMID:16740594, PMID:16918956, PMID:17018660, PMID:17117288, PMID:17284438, PMID:17309124, PMID:17320849, PMID:17332735, PMID:17478419, PMID:17555508, PMID:17698911, PMID:17803689, PMID:17974727, PMID:18219222, PMID:18328986, PMID:18410554, PMID:18680227, PMID:18751724, PMID:18756473, PMID:18796518, PMID:18830196, PMID:19073830, PMID:19179454, PMID:19389809, PMID:19694204, PMID:19759318, PMID:19763152, PMID:20034274, PMID:20164288, PMID:20307669, PMID:20374733, PMID:20602573, PMID:20798521, PMID:20972686, PMID:21175100, PMID:21239511, PMID:21289269, PMID:21414629, PMID:21521328, PMID:21645025, PMID:22024717, PMID:22142470, PMID:22187299, PMID:22192860, PMID:22232026, PMID:22331334, PMID:22406018, PMID:22422767, PMID:22798347, PMID:23077345, PMID:23169696, PMID:23265383, PMID:23372019, PMID:23764372, PMID:23966241, PMID:24033266, PMID:24133354, PMID:24203066, PMID:24394414, PMID:24735972, PMID:24763815, PMID:24854525, PMID:24947037, PMID:25091521, PMID:25104082, PMID:25292184, PMID:25705702, PMID:25741868, PMID:25765207, PMID:25828954, PMID:26107257, PMID:26161261, PMID:26166472, PMID:26290606, PMID:26467025, PMID:26646938, PMID:26855056, PMID:26963950, PMID:27086061, PMID:27157104, PMID:27434672, PMID:27666534, PMID:27957351, PMID:28176280, PMID:28492532, PMID:29026550, PMID:29846619, PMID:30019023, PMID:30052933, PMID:30311386 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
familial hypocalciuric hypercalcemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, familial, type 1
ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:145980
ClinVar Annotator: match by null
DNA:missense mutation:cds:p.A213E (human)
DNA:missense mutations:cds:multiple (human)
DNA:missense mutations:cds:p.R186E, p.E298K, p.R796W (human)
ClinVar
CTD
OMIM
PMID:791660, PMID:1302026, PMID:1706284, PMID:2211966, PMID:3966479, PMID:5013415, PMID:6543841, PMID:7054696, PMID:7673400, PMID:7717399, PMID:7726161, PMID:7791841, PMID:7874174, PMID:7916660, PMID:8636323, PMID:8675635, PMID:8702647, PMID:8878438, PMID:9011580, PMID:9109436, PMID:9422777, PMID:10023897, PMID:10077597, PMID:10217111, PMID:10468915, PMID:10843194, PMID:10912749, PMID:10912782, PMID:11102444, PMID:11134112, PMID:11161843, PMID:11231970, PMID:11248745, PMID:11580999, PMID:11668634, PMID:11733622, PMID:11762699, PMID:11807402, PMID:11889203, PMID:12018449, PMID:12040821, PMID:12052452, PMID:12095982, PMID:12114500, PMID:12239240, PMID:12469911, PMID:12574201, PMID:12890593, PMID:14089114, PMID:14508624, PMID:14997007, PMID:15241688, PMID:15292296, PMID:15531522, PMID:15572418, PMID:15579740, PMID:15598778, PMID:15751724, PMID:15864123, PMID:15879434, PMID:16491288, PMID:16497624, PMID:16598859, PMID:16642557, PMID:17018660, PMID:17117288, PMID:17284438, PMID:17309124, PMID:17320849, PMID:17332735, PMID:17473068, PMID:17555508, PMID:17698911, PMID:18328986, PMID:18680227, PMID:18751724, PMID:18756473, PMID:18887540, PMID:18938753, PMID:19179454, PMID:19389809, PMID:19423559, PMID:19694204, PMID:19759318, PMID:20164288, PMID:20290361, PMID:20602573, PMID:20798521, PMID:21239511, PMID:21289269, PMID:21414629, PMID:21521328, PMID:21645025, PMID:22024717, PMID:22192860, PMID:22422767, PMID:22798347, PMID:23077345, PMID:23966241, PMID:24033266, PMID:24133354, PMID:24203066, PMID:24297799, PMID:25091521, PMID:25292184, PMID:25705702, PMID:25741868, PMID:25766501, PMID:26107257, PMID:26161261, PMID:26166472, PMID:26467025, PMID:26646938, PMID:26963950, PMID:27157104, PMID:27390877, PMID:27434672, PMID:27666534, PMID:27957351, PMID:28176280, PMID:28492532, PMID:29846619, PMID:30311386, PMID:7493018, PMID:21034470, PMID:7726161, PMID:7916660 RGD:7205436, RGD:7205499, RGD:7205440, RGD:1600616 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
familial hypocalciuric hypercalcemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gna11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, familial, type II OMIM
ClinVar
NCBI chr 7:11,033,400...11,047,284
Ensembl chr 7:11,033,317...11,047,437
JBrowse link
familial hypocalciuric hypercalcemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap2s1 adaptor related protein complex 2 subunit sigma 1 ISO ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, familial, type III
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1524075, PMID:20133464, PMID:23222959, PMID:24081735, PMID:24731014, PMID:25741868, PMID:26082470, PMID:27050234, PMID:27761240, PMID:27913609, PMID:28492532, PMID:29325022, PMID:29420171 NCBI chr 1:78,671,238...78,682,847
Ensembl chr 1:78,671,121...78,682,871
JBrowse link
Familial Hypophosphatemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf23 fibroblast growth factor 23 TAS RGD PMID:12419819 RGD:1303356 NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082
JBrowse link
Familial Hypophosphatemic Rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:16,170,585...16,196,691
Ensembl chr  X:16,050,780...16,196,789
JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets
CTD
ClinVar
PMID:3414685, PMID:9097956, PMID:9199930, PMID:9430241, PMID:11414762, PMID:11468271, PMID:12727977, PMID:18625346, PMID:18775977, PMID:24684036, PMID:25741868, PMID:28492532, PMID:29858904 NCBI chr  X:40,460,047...40,717,982
Ensembl chr  X:40,460,047...40,717,982
JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:1652893, PMID:2174914, PMID:2177843, PMID:2557627, PMID:2558018, PMID:2849209, PMID:3024987, PMID:8392085, PMID:8675579, PMID:8862631, PMID:8961271, PMID:9005998, PMID:9360557, PMID:9495519, PMID:10707958, PMID:11564167, PMID:17130574, PMID:17371163, PMID:17970811, PMID:18159135, PMID:18279374, PMID:18593774, PMID:19682379, PMID:20200114, PMID:21168462, PMID:21931507, PMID:22992668, PMID:23180655, PMID:24033266, PMID:24073221, PMID:25741868, PMID:26177022, PMID:26198224, PMID:26590811, PMID:26631034, PMID:26911666, PMID:27164139, PMID:27607899, PMID:27778467, PMID:28492532 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
fetal erythroblastosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ermap erythroblast membrane associated protein (Scianna blood group) ISO ClinVar Annotator: match by term: Radin blood group ClinVar PMID:12393480 NCBI chr 5:138,227,168...138,240,509
Ensembl chr 5:138,227,855...138,239,306
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO DNA:polymorphism: : RGD PMID:19129718 RGD:11100009 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Slc29a1 solute carrier family 29 member 1 ISO ClinVar Annotator: match by term: Fetal Erythroblastosis ClinVar NCBI chr 9:17,784,468...17,799,008
Ensembl chr 9:17,784,468...17,799,005
JBrowse link
Generalized Arterial Calcification of Infancy, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 OMIM
ClinVar
PMID:8960499, PMID:10480624, PMID:11159191, PMID:11739459, PMID:12881724, PMID:14671192, PMID:14988267, PMID:15001634, PMID:15126519, PMID:15605415, PMID:15677494, PMID:15940697, PMID:16025115, PMID:16315058, PMID:16607460, PMID:16968801, PMID:19206175, PMID:19229237, PMID:20016754, PMID:20137773, PMID:22209248, PMID:24033266, PMID:25326635, PMID:25741868, PMID:27467858, PMID:28492532, PMID:29141319 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link
Generalized Arterial Calcification of Infancy, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Generalized arterial calcification of infancy 2
ClinVar Annotator: match by OMIM:614473
OMIM
ClinVar
PMID:10811882, PMID:11179012, PMID:11439001, PMID:11536079, PMID:12176944, PMID:12384774, PMID:12714611, PMID:16086317, PMID:16541094, PMID:16573612, PMID:18800149, PMID:20034067, PMID:22209248, PMID:24088041, PMID:25264593, PMID:25741868, PMID:26633545, PMID:28102862, PMID:30311386 NCBI chr 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243
JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: GRACILE syndrome
ClinVar Annotator: match by OMIM:603358
OMIM
ClinVar
PMID:11528392, PMID:12215968, PMID:12547234, PMID:12910490, PMID:17314340, PMID:17403714, PMID:18386115, PMID:18771761, PMID:19285991, PMID:19389488, PMID:19508421, PMID:20518024, PMID:20727375, PMID:21274865, PMID:22277166, PMID:22310368, PMID:23892085, PMID:24033266, PMID:24236502, PMID:24655110, PMID:25741868, PMID:25895478, PMID:25914718, PMID:26467025, PMID:26489029, PMID:27959697, PMID:28105683, PMID:28322498, PMID:28492532, PMID:28496993, PMID:29090881, PMID:31435670 NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197
JBrowse link
Greenberg dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Greenberg dysplasia
ClinVar Annotator: match by OMIM:215140
DNA:mutations:cds:multiple (human)
OMIM
ClinVar
PMID:14684697, PMID:18382993, PMID:20522425, PMID:21327084, PMID:24033266, PMID:25348816, PMID:25741868, PMID:26467025, PMID:27336722, PMID:27830109, PMID:27875746, PMID:28492532, PMID:30311386, PMID:21327084 RGD:9588626 NCBI chr13:100,431,390...100,450,209 JBrowse link
Heme Oxygenase 1 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmox1 heme oxygenase 1 ISO ClinVar Annotator: match by OMIM:614034 OMIM
ClinVar
PMID:9884342 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
hemochromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1d1 aldo-keto reductase family 1, member D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18624455 NCBI chr 4:65,110,706...65,143,930
Ensembl chr 4:65,110,746...65,143,941
JBrowse link
G Alad aminolevulinate dehydratase treatment IDA RGD PMID:3679087 RGD:12904688 NCBI chr 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346
JBrowse link
G Alas2 5'-aminolevulinate synthase 2 severity ISO DNA:mutation:cds:c.15599C>T,p.520L(human) RGD PMID:16446107 RGD:11035246 NCBI chr  X:23,167,576...23,187,356
Ensembl chr  X:23,167,696...23,187,341
JBrowse link
G B2m beta-2 microglobulin ISS OMIM:231100 MouseDO NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:126,335,963...126,346,771
Ensembl chr 3:126,335,863...126,346,318
JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19252486, PMID:19252488 NCBI chr17:26,955,142...27,112,820
Ensembl chr17:26,955,142...27,112,820
JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17258727 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO juvenile hereditary hemochromatosis, HFE2B, OMIM:602390
ClinVar Annotator: match by term: Hereditary hemochromatosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemochromatosis type 1
ClinVar
CTD
PMID:12915468, PMID:14630809, PMID:14670915, PMID:15024747, PMID:15082576, PMID:16574947, PMID:16627556, PMID:17255318, PMID:19214511, PMID:19252486, PMID:19787796, PMID:21088809, PMID:21411349, PMID:22383097, PMID:25741868, PMID:28492532, PMID:12469120 RGD:1599358 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Hfe homeostatic iron regulator ISO ClinVar Annotator: match by term: Hereditary hemochromatosis
DNA:missense mutation: :p.C282Y (rs1800562) (human)
CTD Direct Evidence: marker/mechanism
associated with Immunologic Deficiency Syndromes;DNA:missense mutation: :p.C282Y (human)
DNA:missense mutation:cds:p.S65C (human)
ClinVar Annotator: match by OMIM:235200
ClinVar
CTD
PMID:678784, PMID:8696333, PMID:8896549, PMID:8896550, PMID:8931958, PMID:8943161, PMID:9024376, PMID:9106528, PMID:9138148, PMID:9162021, PMID:9211748, PMID:9321765, PMID:9326341, PMID:9341868, PMID:9356458, PMID:9439654, PMID:9462220, PMID:9482831, PMID:9546397, PMID:9585606, PMID:9851896, PMID:9851897, PMID:10194428, PMID:10381492, PMID:10401000, PMID:10431233, PMID:10612845, PMID:10660483, PMID:10930379, PMID:10953950, PMID:11050162, PMID:11336458, PMID:11358905, PMID:11399207, PMID:11423500, PMID:11479183, PMID:11532995, PMID:11812557, PMID:11874997, PMID:11904676, PMID:12241803, PMID:12377814, PMID:12429850, PMID:12436244, PMID:12537660, PMID:12542741, PMID:12584229, PMID:12681966, PMID:12737937, PMID:12885340, PMID:12915468, PMID:12952143, PMID:14618419, PMID:14673107, PMID:14729817, PMID:15025725, PMID:15046077, PMID:15060098, PMID:15070663, PMID:15280838, PMID:15347835, PMID:15350019, PMID:15477198, PMID:15775762, PMID:15858186, PMID:15965644, PMID:16132052, PMID:16793930, PMID:16879202, PMID:17079357, PMID:17119292, PMID:17236123, PMID:17255318, PMID:17258727, PMID:17376729, PMID:17600748, PMID:17828789, PMID:18199861, PMID:18317567, PMID:18499578, PMID:18504828, PMID:18566337, PMID:18762941, PMID:19084217, PMID:19159930, PMID:19214108, PMID:19444013, PMID:19554541, PMID:19759876, PMID:19787796, PMID:20107990, PMID:20160468, PMID:20301613, PMID:20843714, PMID:21243428, PMID:21411349, PMID:21452290, PMID:22383097, PMID:22531912, PMID:22624560, PMID:23705020, PMID:24033266, PMID:24729993, PMID:24872867, PMID:25741868, PMID:25741869, PMID:25850353, PMID:25874029, PMID:26153218, PMID:26365338, PMID:26456104, PMID:26799139, PMID:27124787, PMID:27173269, PMID:27518069, PMID:28443246, PMID:28492532, PMID:28617828, PMID:29590070, PMID:30291871, PMID:30311386, PMID:31220083, PMID:8696333, PMID:30651232, PMID:12850493, PMID:12190960, PMID:10194428 RGD:7207252, RGD:14746965, RGD:10755540, RGD:8694411, RGD:8694372 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO juvenile hemochromatosis, type 2A, OMIM:602390
CTD Direct Evidence: marker/mechanism
CTD PMID:16868025, PMID:17255318, PMID:19252486, PMID:21411349, PMID:14647275 RGD:1599478 NCBI chr 2:198,655,437...198,659,318
Ensembl chr 2:198,655,437...198,659,317
JBrowse link
G Hmox1 heme oxygenase 1 ISS OMIM:231100 MouseDO NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Slc11a2 solute carrier family 11 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11439223 NCBI chr 7:142,025,812...142,062,892
Ensembl chr 7:142,025,815...142,063,212
JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary hemochromatosis
CTD
ClinVar
PMID:16457665, PMID:21411349 NCBI chr 9:52,819,451...52,830,461
Ensembl chr 9:52,894,365...52,912,293
JBrowse link
G Tfr2 transferrin receptor 2 ISO hemochromatosis, type 3, HFE3, OMIM:604250
ClinVar Annotator: match by term: Hereditary hemochromatosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemochromatosis type 1
ClinVar
CTD
PMID:12130528, PMID:12150153, PMID:14633868, PMID:16424658, PMID:16935854, PMID:17241880, PMID:17562347, PMID:17951290, PMID:18245657, PMID:18450729, PMID:18762941, PMID:20301523, PMID:21411349, PMID:21770687, PMID:21901660, PMID:22383097, PMID:22890139, PMID:23556518, PMID:23600741, PMID:24055163, PMID:25741868, PMID:26029709, PMID:26408288, PMID:27667161, PMID:28276324, PMID:28492532, PMID:10802645 RGD:1599386 NCBI chr12:22,177,382...22,194,330
Ensembl chr12:22,177,382...22,194,299
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:promoter:-238G>A (rs361525) (human)
DNA:SNP:promoter:-308G>A (human)
CTD PMID:16793930, PMID:11389006, PMID:16793930 RGD:12904656, RGD:12904050 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
hemochromatosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp2 bone morphogenetic protein 2 ISO OMIM NCBI chr 3:126,335,963...126,346,771
Ensembl chr 3:126,335,863...126,346,318
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar PMID:12915468, PMID:19214511, PMID:28492532 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Hfe homeostatic iron regulator ISO ClinVar Annotator: match by term: Hemochromatosis type 1 OMIM
ClinVar
PMID:678784, PMID:8696333, PMID:8896549, PMID:8896550, PMID:8931958, PMID:8943161, PMID:9024376, PMID:9106528, PMID:9138148, PMID:9162021, PMID:9211748, PMID:9321765, PMID:9326341, PMID:9341868, PMID:9356458, PMID:9439654, PMID:9462220, PMID:9482831, PMID:9546397, PMID:9585606, PMID:9851896, PMID:9851897, PMID:9858853, PMID:10194428, PMID:10381492, PMID:10401000, PMID:10431233, PMID:10575540, PMID:10612845, PMID:10660483, PMID:10930379, PMID:10950943, PMID:10953950, PMID:11336458, PMID:11358905, PMID:11399207, PMID:11423500, PMID:11479183, PMID:11532995, PMID:11812557, PMID:11874997, PMID:11904676, PMID:12241803, PMID:12377814, PMID:12429850, PMID:12436244, PMID:12537660, PMID:12542741, PMID:12584229, PMID:12681966, PMID:12737937, PMID:12885340, PMID:12915468, PMID:12952143, PMID:14618419, PMID:14673107, PMID:14729817, PMID:15025725, PMID:15046077, PMID:15060098, PMID:15070663, PMID:15280838, PMID:15347835, PMID:15350019, PMID:15477198, PMID:15775762, PMID:15858186, PMID:15965644, PMID:16132052, PMID:16879202, PMID:17079357, PMID:17600748, PMID:17828789, PMID:18199861, PMID:18499578, PMID:18504828, PMID:18566337, PMID:18762941, PMID:19084217, PMID:19159930, PMID:19214108, PMID:19444013, PMID:19554541, PMID:19759876, PMID:19787796, PMID:20107990, PMID:20301613, PMID:20609690, PMID:20722017, PMID:21243428, PMID:21452290, PMID:22531912, PMID:22624560, PMID:24033266, PMID:24729993, PMID:24872867, PMID:25741868, PMID:25741869, PMID:25850353, PMID:26153218, PMID:26365338, PMID:26456104, PMID:26799139, PMID:27124787, PMID:27173269, PMID:27667161, PMID:28443246, PMID:28492532, PMID:28617828, PMID:29590070, PMID:30291871, PMID:30311386, PMID:31220083 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar PMID:12891378, PMID:14647275, PMID:14982867, PMID:14982873, PMID:15138164, PMID:15254010, PMID:15610558, PMID:15811010, PMID:16103117, PMID:17339196, PMID:18827264, PMID:19796184, PMID:22408404, PMID:24033266, PMID:28492532 NCBI chr 2:198,655,437...198,659,318
Ensembl chr 2:198,655,437...198,659,317
JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar NCBI chr 9:52,819,451...52,830,461
Ensembl chr 9:52,894,365...52,912,293
JBrowse link
G Tfr2 transferrin receptor 2 ISO ClinVar Annotator: match by term: Hemochromatosis type 1
ClinVar Annotator: match by term: Hemochromatosis, type 1, modifier of
ClinVar PMID:12150153, PMID:16424658, PMID:22890139, PMID:23600741, PMID:24055163, PMID:26029709, PMID:28492532 NCBI chr12:22,177,382...22,194,330
Ensembl chr12:22,177,382...22,194,299
JBrowse link
hemochromatosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Juvenile hemochromatosis
ClinVar Annotator: match by term: Hemochromatosis, type 2a, modifier of
ClinVar PMID:12915468, PMID:19214511, PMID:28492532 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G Hfe homeostatic iron regulator ISO ClinVar Annotator: match by term: Hemochromatosis type 2 ClinVar PMID:678784, PMID:8696333, PMID:8896549, PMID:8896550, PMID:8931958, PMID:8943161, PMID:9024376, PMID:9138148, PMID:9162021, PMID:9211748, PMID:9321765, PMID:9326341, PMID:9341868, PMID:9356458, PMID:9439654, PMID:9462220, PMID:9482831, PMID:9585606, PMID:9851896, PMID:9851897, PMID:10381492, PMID:10401000, PMID:10431233, PMID:11532995, PMID:11812557, PMID:12241803, PMID:12429850, PMID:12436244, PMID:12915468, PMID:14618419, PMID:14729817, PMID:15060098, PMID:15070663, PMID:15280838, PMID:15347835, PMID:15858186, PMID:16132052, PMID:16879202, PMID:17828789, PMID:18199861, PMID:18499578, PMID:18504828, PMID:18566337, PMID:19084217, PMID:19159930, PMID:19444013, PMID:19554541, PMID:20301613, PMID:21243428, PMID:21452290, PMID:22531912, PMID:24033266, PMID:25741868, PMID:25741869, PMID:26153218, PMID:26365338, PMID:27124787, PMID:28492532 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by OMIM:602390
ClinVar Annotator: match by term: Hemochromatosis type 2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 NCBI chr 2:198,655,437...198,659,318
Ensembl chr 2:198,655,437...198,659,317
JBrowse link
hemochromatosis type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd34a ankyrin repeat domain 34A ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar PMID:28492532 NCBI chr 2:198,720,277...198,725,155
Ensembl chr 2:198,721,724...198,725,154
JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar
OMIM
PMID:12482411, PMID:12891378, PMID:14647275, PMID:14982867, PMID:14982873, PMID:15138164, PMID:15254010, PMID:15461631, PMID:15610558, PMID:15775751, PMID:15811010, PMID:16103117, PMID:17339196, PMID:17490902, PMID:17726683, PMID:17938254, PMID:18492090, PMID:18827264, PMID:18976966, PMID:19342478, PMID:19796184, PMID:19907145, PMID:21411349, PMID:21901660, PMID:22408404, PMID:24033266, PMID:25741868, PMID:28363629, PMID:28492532, PMID:30195625 NCBI chr 2:198,655,437...198,659,318
Ensembl chr 2:198,655,437...198,659,317
JBrowse link
G Polr3gl RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar PMID:28492532 NCBI chr 2:198,698,044...198,719,609
Ensembl chr 2:198,702,587...198,719,202
JBrowse link
G Txnip thioredoxin interacting protein ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar PMID:28492532 NCBI chr 2:198,683,168...198,686,971
Ensembl chr 2:198,683,159...198,686,974
JBrowse link
hemochromatosis type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Hemochromatosis type 2B
ClinVar Annotator: match by OMIM:613313
OMIM
ClinVar
PMID:12469120, PMID:12915468, PMID:15082576, PMID:15198949, PMID:19214511, PMID:21088809, PMID:25741868, PMID:28492532 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
hemochromatosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfr2 transferrin receptor 2 ISO ClinVar Annotator: match by term: Hemochromatosis type 3
ClinVar Annotator: match by OMIM:604250
OMIM
ClinVar
PMID:10802645, PMID:11313241, PMID:12130528, PMID:12150153, PMID:14633868, PMID:16424658, PMID:16838333, PMID:17562347, PMID:17951290, PMID:18245657, PMID:18450729, PMID:20301523, PMID:21524769, PMID:21901660, PMID:22890139, PMID:23556518, PMID:24055163, PMID:25741868, PMID:26029709, PMID:26183747, PMID:27667161, PMID:28492532 NCBI chr12:22,177,382...22,194,330
Ensembl chr12:22,177,382...22,194,299
JBrowse link
hemochromatosis type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc40a1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Hemochromatosis type 4
ClinVar Annotator: match by OMIM:606069
OMIM
ClinVar
PMID:11431687, PMID:11518736, PMID:12730114, PMID:12857562, PMID:14636642, PMID:15338274, PMID:15692071, PMID:15831700, PMID:16351644, PMID:16440176, PMID:16813613, PMID:17276706, PMID:17490902, PMID:17951290, PMID:17997113, PMID:19150361, PMID:20460119, PMID:21199650, PMID:21231898, PMID:21396368, PMID:21411349, PMID:22584997, PMID:23065513, PMID:23943237, PMID:25396007, PMID:25741868, PMID:27896572, PMID:28110135, PMID:28492532, PMID:30002125, PMID:32360131 NCBI chr 9:52,819,451...52,830,461
Ensembl chr 9:52,894,365...52,912,293
JBrowse link
hemochromatosis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Hemochromatosis type 5 ClinVar PMID:14615048 NCBI chr 1:226,033,146...226,049,893
Ensembl chr 1:226,030,875...226,049,929
JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Hemochromatosis type 5
ClinVar Annotator: match by OMIM:615517
OMIM
ClinVar
PMID:11389486, PMID:14615048 NCBI chr 1:226,030,940...226,033,228
Ensembl chr 1:226,030,938...226,033,228
JBrowse link
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jam3 junctional adhesion molecule 3 ISO ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
ClinVar Annotator: match by OMIM:613730
OMIM
ClinVar
PMID:21109224, PMID:23255084, PMID:25741868, PMID:25741869 NCBI chr 8:28,147,110...28,208,466
Ensembl chr 8:28,147,111...28,208,466
JBrowse link
hemosiderosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cp ceruloplasmin susceptibility ISO DNA:splice-site mutation RGD PMID:7539672, PMID:7539672 RGD:1599626, RGD:1599626 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
Hemosiderosis, Systemic, due to Aceruloplasminemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Hemosiderosis, systemic, due to aceruloplasminemia
ClinVar Annotator: match by term: Systemic hemosiderosis due to aceruloplasminemia
ClinVar PMID:1458725, PMID:2016084, PMID:3574673, PMID:5675426, PMID:5912351, PMID:7539672, PMID:7708681, PMID:7820540, PMID:8641692, PMID:16629161, PMID:28492532 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
JBrowse link
hereditary arterial and articular multiple calcification syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nt5e 5' nucleotidase, ecto ISO ClinVar Annotator: match by OMIM:211800 OMIM
ClinVar
PMID:21288095 NCBI chr 8:95,969,002...96,012,733
Ensembl chr 8:95,968,652...96,012,696
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:22386825 RGD:7205494 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
JBrowse link
hereditary hypophosphatemic rickets with hypercalciuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone ISO protein:decreased expression:plasma (mouse) RGD PMID:19570882 RGD:7242924 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO
ISS
OMIM:241530
DNA:deletions, snps:multiple (human)
MouseDO PMID:19570882, PMID:16358215 RGD:7242924, RGD:7242925 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria
ClinVar Annotator: match by term: HYPERCALCIURIC RICKETS
ClinVar Annotator: match by OMIM:241530
OMIM
ClinVar
PMID:2983203, PMID:16358214, PMID:16358215, PMID:16849419, PMID:18523928, PMID:18996815, PMID:19820004, PMID:20074341, PMID:21344632, PMID:22159077, PMID:24246249, PMID:25741868, PMID:26399350, PMID:26789268, PMID:28492532, PMID:29809158 NCBI chr 3:2,448,391...2,454,019
Ensembl chr 3:2,448,381...2,453,933
JBrowse link
Hydrops Fetalis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin disease_progression ISO RGD PMID:17195148 RGD:11036098 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Ccbe1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 NCBI chr18:61,758,754...62,013,194
Ensembl chr18:61,759,289...61,788,863
JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 3:161,298,750...161,304,627
Ensembl chr 3:161,298,962...161,304,625
JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:8259166, PMID:8737829, PMID:9024557, PMID:9653161, PMID:9683613, PMID:10677299, PMID:10807690, PMID:10814720, PMID:10995508, PMID:11078571, PMID:11161831, PMID:11175299, PMID:11241839, PMID:11427181, PMID:11562938, PMID:12794707, PMID:15286151, PMID:15464432, PMID:15521979, PMID:15670717, PMID:15776424, PMID:15805162, PMID:15952211, PMID:16497572, PMID:16761297, PMID:16906538, PMID:17965227, PMID:18285838, PMID:19365639, PMID:19390132, PMID:20301322, PMID:20556518, PMID:20635399, PMID:21777499, PMID:22438180, PMID:22975760, PMID:23042628, PMID:23293579, PMID:23918729, PMID:24033266, PMID:24824134, PMID:25108116, PMID:25741868, PMID:25807282, PMID:26467025, PMID:28166604, PMID:28492532, PMID:30311386 NCBI chr 1:217,018,916...217,034,890
Ensembl chr 1:217,018,916...217,034,904
JBrowse link
G Dnah14 dynein axonemal heavy chain 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:99,886,373...100,072,674
NCBI chr13:101,936,210...101,973,640
JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 7:77,898,329...77,931,034
Ensembl chr 7:77,899,322...77,931,029
JBrowse link
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr 6:24,770,308...24,985,711
Ensembl chr 6:24,770,317...24,985,716
JBrowse link
G Gusb glucuronidase, beta ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar Annotator: match by term: Nonimmune hydrops fetalis
ClinVar PMID:1702266, PMID:7573038, PMID:7680524, PMID:8644704, PMID:9099834, PMID:19224584, PMID:25741868, PMID:26036949, PMID:28492532, PMID:29620724, PMID:30311386 NCBI chr12:30,202,066...30,215,583
Ensembl chr12:30,198,822...30,227,771
JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Hydrops fetalis, non-immune ClinVar PMID:25741868, PMID:28492532 NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
JBrowse link
G Myo18a myosin XVIIIa ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:25741868 NCBI chr10:64,979,770...65,080,535
Ensembl chr10:64,979,770...65,080,535
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949, PMID:28492532 NCBI chr 9:119,353,840...119,469,196
Ensembl chr 9:119,353,840...119,468,715
JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:18330676, PMID:25205138, PMID:26036949, PMID:26841830, PMID:28492532 NCBI chr 3:37,658,081...37,855,843
Ensembl chr 3:37,658,563...37,854,561
JBrowse link
G Neu1 neuraminidase 1 ISO ClinVar Annotator: match by term: Fetal edema ClinVar NCBI chr20:4,610,995...4,615,258
Ensembl chr20:4,610,995...4,615,247
JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:79,886,832...79,889,305
Ensembl chr13:79,886,832...79,889,304
JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
JBrowse link
G RGD1309106 similar to hypothetical protein ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr13:79,856,479...79,901,830
Ensembl chr13:79,856,479...79,899,479
JBrowse link
G Sftpa1 surfactant protein A1 ISO protein:decreased expression:lung RGD PMID:7590701 RGD:4143453 NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr16:74,680,621...74,712,368
Ensembl chr16:74,680,621...74,710,704
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Hydrops fetalis ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084
JBrowse link
G Ubn1 ubinuclein 1 ISO ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar PMID:26036949 NCBI chr10:10,690,224...10,725,655
Ensembl chr10:10,690,224...10,725,655
JBrowse link
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by OMIM:617021
ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia
ClinVar
OMIM
PMID:23541342, PMID:24033266, PMID:25741868, PMID:26537577, PMID:26970254 NCBI chr 8:132,441,277...132,537,176
Ensembl chr 8:132,441,285...132,536,369
JBrowse link
hypercalcemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calca calcitonin-related polypeptide alpha ISO CTD Direct Evidence: therapeutic CTD PMID:1115441, PMID:12637657 NCBI chr 1:184,184,018...184,188,922
Ensembl chr 1:184,184,020...184,188,911
JBrowse link
G Calcr calcitonin receptor ISO CTD Direct Evidence: therapeutic CTD PMID:18627265 NCBI chr 4:28,627,439...28,702,559
Ensembl chr 4:28,627,442...28,702,559
JBrowse link
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Hypercalcemia
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.R990G, p.E1011Q (human)
ClinVar
CTD
PMID:7874174, PMID:7916660, PMID:9011580, PMID:9422777, PMID:10077597, PMID:10912782, PMID:11102444, PMID:11889203, PMID:12095982, PMID:12114500, PMID:17284438, PMID:19389809, PMID:21239511, PMID:23077345, PMID:26467025, PMID:28492532, PMID:30311386, PMID:12671052, PMID:20602573 RGD:734698, RGD:7205445 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chr 3:168,097,484...168,111,920
Ensembl chr 3:168,097,485...168,111,920
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20427501 NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10638776 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
JBrowse link
G Pth parathyroid hormone IDA
ISO
associated with Kidney Failure, Chronic
CTD Direct Evidence: marker/mechanism
CTD PMID:4004906, PMID:7891547, PMID:9382671, PMID:10638776, PMID:12399635, PMID:17164314, PMID:23261531 RGD:7242689 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Pth1r parathyroid hormone 1 receptor IDA protein:increased expression:odontoblast; associated with neoplasms RGD PMID:16036863 RGD:1599980 NCBI chr 8:118,984,531...119,012,803
Ensembl chr 8:118,988,053...119,012,671
JBrowse link
G Pthlh parathyroid hormone-like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:3616618, PMID:10638776, PMID:11054717, PMID:12358896 NCBI chr 4:181,663,425...181,674,181 JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9560283 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10638776 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO CTD Direct Evidence: therapeutic CTD PMID:15845617 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15845617 NCBI chr15:60,482,527...60,512,704
Ensembl chr15:60,482,527...60,512,704
JBrowse link
Hypercalcemia, Infantile, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Idiopathic hypercalcemia of infancy
ClinVar Annotator: match by term: Hypercalcemia, infantile, 1
ClinVar
OMIM
PMID:3490596, PMID:19961857, PMID:21675912, PMID:22047571, PMID:22100522, PMID:22112808, PMID:23001465, PMID:23293122, PMID:23423976, PMID:23470222, PMID:23485543, PMID:24033266, PMID:24518185, PMID:25194629, PMID:25375986, PMID:25446019, PMID:25741868, PMID:26097993, PMID:26117226, PMID:26214117, PMID:26846157, PMID:27394135, PMID:27798933, PMID:28109821, PMID:28470390, PMID:28492532 NCBI chr 3:168,097,484...168,111,920
Ensembl chr 3:168,097,485...168,111,920
JBrowse link
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:20394945 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Idiopathic hypercalcemia of infancy ClinVar PMID:24033266 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
Hypercalcemia, Infantile, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hypercalcemia, infantile, 2 ClinVar
OMIM
PMID:20466674, PMID:25741868, PMID:26047794, PMID:26787776, PMID:28492532, PMID:28893421 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
Hypercalciuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor no_association
susceptibility
ISO
IEP
associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutations:cds:p.A986S, p.R990G, p.E1011Q (human)
DNA:missense mutation: :p.E1011Q (human)
mRNA, protein:increased expression:kidney (rat)
associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutation:cds:p.R990G (human)
RGD PMID:19887834, PMID:20602573, PMID:22137721, PMID:12239240 RGD:7205502, RGD:7205445, RGD:7205675, RGD:7205666 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
G Cldn16 claudin 16 ISO ClinVar Annotator: match by term: Hypercalciuria, childhood, self-limiting ClinVar PMID:14628289 NCBI chr11:77,683,942...77,703,232
Ensembl chr11:77,681,794...77,703,255
JBrowse link
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chr 3:168,097,484...168,111,920
Ensembl chr 3:168,097,485...168,111,920
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1324751, PMID:3017235 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:17164314 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9560283, PMID:21784483 RGD:7242936 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Hypercalciuria ClinVar NCBI chr 3:2,448,391...2,454,019
Ensembl chr 3:2,448,381...2,453,933
JBrowse link
G Vdr vitamin D receptor IEP protein:increased expression:kidney, small intestine RGD PMID:19929616 RGD:4889914 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
Hypercalciuria, Absorptive, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy10 adenylate cyclase 10 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr13:83,701,952...83,787,010
Ensembl chr13:83,721,300...83,787,018
JBrowse link
Hypercalciuria, Childhood Idiopathic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:20394945 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
JBrowse link
hyperferritinemia-cataract syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ftl1 ferritin light chain 1 ISO DNA:deletion:5' utr: (human)
ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts
ClinVar Annotator: match by term: Hyperferritinemia cataract syndrome
ClinVar Annotator: match by OMIM:600886
DNA:mutations:5'utr:
ClinVar
OMIM
PMID:2336358, PMID:7492760, PMID:7493028, PMID:7669675, PMID:8233801, PMID:8781450, PMID:9226182, PMID:9292547, PMID:9414300, PMID:9414313, PMID:9726965, PMID:10366790, PMID:10366804, PMID:10383191, PMID:10759702, PMID:11703332, PMID:11849230, PMID:12199804, PMID:12200611, PMID:14662596, PMID:15690351, PMID:16900584, PMID:17182944, PMID:18414213, PMID:19176363, PMID:19800271, PMID:21907119, PMID:22881709, PMID:23300176, PMID:23421845, PMID:24766965, PMID:25741868, PMID:26633542, PMID:27096259, PMID:28492532, PMID:9292547, PMID:22020773 RGD:1598966, RGD:5509864 NCBI chr 1:101,448,190...101,450,034
Ensembl chr 1:101,448,346...101,449,829
JBrowse link
G Gys1 glycogen synthase 1 ISO ClinVar Annotator: match by term: Hyperferritinemia cataract syndrome ClinVar PMID:17182944, PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr 1:101,427,195...101,447,092
Ensembl chr 1:101,427,195...101,447,092
JBrowse link
Hyperphosphatasia with Mental Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap3 post-GPI attachment to proteins phospholipase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:86,343,058...86,356,146
Ensembl chr10:86,343,064...86,355,006
JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Hyperphosphatasia with Intellectual Disability Syndrome
ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:24033266, PMID:25741868, PMID:28492532, PMID:28545593 NCBI chr 5:58,461,055...58,470,699
Ensembl chr 5:58,461,759...58,469,399
JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V ISO ClinVar Annotator: match by term: Hyperphosphatasia with Intellectual Disability Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome
ClinVar
CTD
PMID:1724113, PMID:20578257, PMID:20802478, PMID:21739589, PMID:22228761, PMID:22315194, PMID:24033266, PMID:24129430, PMID:25741868 NCBI chr 5:151,886,132...151,899,024
Ensembl chr 5:151,886,035...151,898,022
JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:72,194,774...72,198,415
Ensembl chr10:72,194,929...72,196,437
JBrowse link
G Pigy phosphatidylinositol glycan anchor biosynthesis, class Y ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:23,167,974...23,170,215
Ensembl chr 8:23,167,974...23,170,209
JBrowse link
Hyperphosphatasia with Mental Retardation Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigb phosphatidylinositol glycan anchor biosynthesis, class B ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 ClinVar PMID:25326635, PMID:25741868, PMID:31256876 NCBI chr 8:79,691,407...79,715,284
Ensembl chr 8:79,691,407...79,715,284
JBrowse link
G Pigg phosphatidylinositol glycan anchor biosynthesis, class G ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 ClinVar PMID:25741868, PMID:26996948, PMID:28492532 NCBI chr14:2,410,339...2,438,630
Ensembl chr14:2,410,342...2,438,592
JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 ClinVar PMID:25741868 NCBI chr 5:58,461,055...58,470,699
Ensembl chr 5:58,461,759...58,469,399
JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1
ClinVar Annotator: match by OMIM:239300
OMIM
ClinVar
PMID:1724113, PMID:17351347, PMID:20578257, PMID:20802478, PMID:21739589, PMID:22228761, PMID:22315194, PMID:24033266, PMID:24129430, PMID:24439110, PMID:25741868, PMID:26467025, PMID:27166760, PMID:28492532 NCBI chr 5:151,886,132...151,899,024
Ensembl chr 5:151,886,035...151,898,022
JBrowse link
Hyperphosphatasia with Mental Retardation Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,998,209...59,001,779
Ensembl chr 5:58,995,249...59,001,800
JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,107,182...58,114,632
Ensembl chr 5:58,107,707...58,113,553
JBrowse link
G Ca9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:59,008,277...59,015,535
Ensembl chr 5:59,008,933...59,015,528
JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,995,211...58,998,620
Ensembl chr 5:58,995,249...58,997,953
JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,181,025...58,182,969
Ensembl chr 5:58,181,026...58,183,017
JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,197,678...58,198,782
Ensembl chr 5:58,197,680...58,198,782
JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,159,066...58,166,182
Ensembl chr 5:58,159,066...58,163,584
JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,943,021...58,950,373
Ensembl chr 5:58,943,027...58,950,373
JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,041,114...58,078,687
Ensembl chr 5:58,041,146...58,078,545
JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:59,063,532...59,068,196
Ensembl chr 5:59,063,531...59,068,188
JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,098,706...58,106,706
Ensembl chr 5:58,098,706...58,106,706
JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:57,947,796...58,017,985
Ensembl chr 5:57,947,716...58,017,992
JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,393,197...58,402,162
Ensembl chr 5:58,393,233...58,401,870
JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,018,039...58,019,836
Ensembl chr 5:58,018,039...58,019,836
JBrowse link
G Fam166b family with sequence similarity 166, member B ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,883,064...58,884,136 JBrowse link
G Fam205a family with sequence similarity 205, member A ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,282,202...58,303,075
Ensembl chr 5:58,282,379...58,288,125
JBrowse link
G Fam214b family with sequence similarity 214, member B ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,477,894...58,484,900
Ensembl chr 5:58,477,894...58,484,900
JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,448,060...58,456,416
Ensembl chr 5:58,448,822...58,455,819
JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,144,679...58,147,946
Ensembl chr 5:58,144,705...58,147,929
JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:59,068,081...59,079,719
Ensembl chr 5:59,068,081...59,079,719
JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,149,150...58,159,072
Ensembl chr 5:58,151,985...58,159,072
JBrowse link
G LOC100360821 rCG55159-like ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,416,058...58,421,991
Ensembl chr 5:58,416,432...58,420,342
JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 Ensembl chr 5:59,084,626...59,085,676 JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:59,128,186...59,147,321
Ensembl chr 5:59,128,315...59,147,255
JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,359,744...58,387,446
Ensembl chr 5:58,359,498...58,383,070
JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2
ClinVar Annotator: match by OMIM:614749
OMIM
ClinVar
PMID:22683086, PMID:24033266, PMID:24417746, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28545593, PMID:28900819, PMID:30109123 NCBI chr 5:58,461,055...58,470,699
Ensembl chr 5:58,461,759...58,469,399
JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:59,080,290...59,088,777
Ensembl chr 5:59,080,765...59,088,523
JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,096,037...58,097,577
Ensembl chr 5:58,096,213...58,097,577
JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,860,444...58,883,152
Ensembl chr 5:58,855,773...58,882,096
JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,121,824...58,124,687
Ensembl chr 5:58,121,786...58,124,681
JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,985,912...58,987,538
Ensembl chr 5:58,985,829...58,987,760
JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:59,147,412...59,149,625
Ensembl chr 5:59,147,337...59,149,699
JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,472,561...58,476,158
Ensembl chr 5:58,472,550...58,476,251
JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,937,615...58,943,358
Ensembl chr 5:58,937,615...58,943,358
JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:59,033,635...59,063,592
Ensembl chr 5:59,033,636...59,063,592
JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,505,449...58,714,396
Ensembl chr 5:58,505,500...58,715,576
JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar PMID:28492532 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
Hyperphosphatasia with Mental Retardation Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 3
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:614207
OMIM
ClinVar
PMID:21629298, PMID:21643797, PMID:23561846, PMID:23561847, PMID:25741868, PMID:25741869 NCBI chr 1:167,309,021...167,335,550
Ensembl chr 1:167,309,051...167,334,741
JBrowse link
Hyperphosphatasia with Mental Retardation Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap3 post-GPI attachment to proteins phospholipase 3 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 4
ClinVar Annotator: match by OMIM:615716
OMIM
ClinVar
PMID:22315194, PMID:24439110, PMID:25741868, PMID:27120253, PMID:28390064, PMID:29620724, PMID:30217754, PMID:30345601 NCBI chr10:86,343,058...86,356,146
Ensembl chr10:86,343,064...86,355,006
JBrowse link
Hyperphosphatasia with Mental Retardation Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aatf apoptosis antagonizing transcription factor ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:71,744,648...71,837,851
Ensembl chr10:71,744,659...71,837,851
JBrowse link
G Acaca acetyl-CoA carboxylase alpha ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:71,519,392...71,719,910
Ensembl chr10:71,536,533...71,719,910
JBrowse link
G Dhrs11 dehydrogenase/reductase 11 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:72,144,042...72,153,496
Ensembl chr10:72,144,042...72,153,375
JBrowse link
G Ggnbp2 gametogenetin binding protein 2 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:72,156,729...72,188,834
Ensembl chr10:72,156,728...72,188,308
JBrowse link
G Lhx1 LIM homeobox 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:71,843,991...71,849,293
Ensembl chr10:71,843,991...71,849,293
JBrowse link
G Mrm1 mitochondrial rRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:72,136,241...72,143,075
Ensembl chr10:72,136,246...72,142,533
JBrowse link
G Myo19 myosin XIX ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar PMID:28492532 NCBI chr10:72,198,475...72,227,892
Ensembl chr10:72,197,977...72,227,462
JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 ClinVar
OMIM
PMID:24367057, PMID:25741868, PMID:27626616, PMID:28492532 NCBI chr10:72,194,774...72,198,415
Ensembl chr10:72,194,929...72,196,437
JBrowse link
Hyperphosphatasia with Mental Retardation Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigy phosphatidylinositol glycan anchor biosynthesis, class Y ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 6 ClinVar
OMIM
PMID:26293662 NCBI chr 8:23,167,974...23,170,215
Ensembl chr 8:23,167,974...23,170,209
JBrowse link
G Pyurf PIGY upstream reading frame ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 6 ClinVar PMID:26293662 NCBI chr 4:88,584,242...88,587,877
Ensembl chr 4:88,584,242...88,587,877
JBrowse link
hyperphosphatemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf23 fibroblast growth factor 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082
JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr 3:52,174,469...52,212,395
Ensembl chr 3:52,175,547...52,212,412
JBrowse link
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
JBrowse link
G Pth parathyroid hormone IDA
ISO
associated with Kidney Failure, Chronic
CTD Direct Evidence: marker/mechanism
associated with Kidney Failure, Chronic
CTD PMID:12399635, PMID:23548309, PMID:23211335 RGD:7242565, RGD:7242693 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO protein:increased expression:kidney (mouse) RGD PMID:18835926, PMID:20418498 RGD:7242940, RGD:7243099 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
hyperphosphatemic familial tumoral calcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Tumoral calcinosis, familial, hyperphosphatemic ClinVar PMID:15590700, PMID:15687325, PMID:18682534, PMID:19837926, PMID:24033266, PMID:25326637, PMID:29389098 NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082
JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Tumoral calcinosis, familial, hyperphosphatemic
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 3:52,174,469...52,212,395
Ensembl chr 3:52,175,547...52,212,412
JBrowse link
G Kl Klotho ISO
ISS
ClinVar Annotator: match by term: Tumoral calcinosis, familial, hyperphosphatemic
OMIM:211900
ClinVar
MouseDO
NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
JBrowse link
Hyperphosphatemic Familial Tumoral Calcinosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acrbp acrosin binding protein ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,563,990...157,577,045
Ensembl chr 4:157,563,990...157,568,023
JBrowse link
G Acsm4 acyl-CoA synthetase medium-chain family member 4 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 1:189,432,604...189,458,799
Ensembl chr 1:189,432,604...189,457,048
JBrowse link
G Adipor2 adiponectin receptor 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:151,412,135...151,480,108
Ensembl chr 4:151,414,684...151,428,894
JBrowse link
G Aicda activation-induced cytidine deaminase ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
JBrowse link
G Akap3 A-kinase anchoring protein 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:159,399,686...159,425,512
Ensembl chr 4:159,403,501...159,425,629
JBrowse link
G Ano2 anoctamin 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:158,222,650...158,577,595
Ensembl chr 4:158,224,000...158,576,978
JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:155,386,367...155,414,034
Ensembl chr 4:155,386,711...155,401,480
JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,267,394...157,281,199
Ensembl chr 4:157,267,901...157,274,755
Ensembl chr 9:157,267,901...157,274,755
JBrowse link
G B4galnt3 beta-1,4-N-acetyl-galactosaminyl transferase 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:152,736,036...152,835,521
Ensembl chr 4:152,737,161...152,835,182
JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,126,060...157,136,825
Ensembl chr 4:157,125,998...157,136,829
JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,108,190...157,122,689
Ensembl chr 4:157,107,469...157,123,446
JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,143,592...157,155,592
Ensembl chr 4:157,143,592...157,155,609
JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:155,681,767...155,691,240
Ensembl chr 4:155,684,029...155,690,869
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:151,298,548...151,409,263
Ensembl chr 4:151,298,548...151,409,263
JBrowse link
G Ccdc77 coiled-coil domain containing 77 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:152,860,669...152,892,518
Ensembl chr 4:152,860,675...152,883,210
JBrowse link
G Ccnd2 cyclin D2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:159,674,885...159,697,207
Ensembl chr 4:159,674,885...159,697,207
JBrowse link
G Cd163 CD163 molecule ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:156,752,063...156,785,467
Ensembl chr 4:156,752,082...156,785,467
JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,744,881...157,751,609
Ensembl chr 4:157,744,882...157,750,088
JBrowse link
G Cd4 Cd4 molecule ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,381,862...157,408,357
Ensembl chr 4:157,383,052...157,408,176
JBrowse link
G Cd9 CD9 molecule ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,977,163...158,010,091
Ensembl chr 4:157,977,162...158,010,166
JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,347,876...157,351,889
Ensembl chr 4:157,348,020...157,351,604
JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,612,531...157,645,660
Ensembl chr 4:157,612,536...157,645,659
JBrowse link
G Clec4a1 C-type lectin domain family 4, member A1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:155,947,794...155,959,909
Ensembl chr 4:155,947,453...155,959,993
JBrowse link
G Clec4a3 C-type lectin domain family 4, member A3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:155,913,366...155,923,079
Ensembl chr 4:155,913,366...155,923,079
JBrowse link
G Clec4b2 C-type lectin domain family 4, member B2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:156,107,720...156,131,226
Ensembl chr 4:156,107,620...156,131,583
JBrowse link
G Clec4d C-type lectin domain family 4, member D ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:156,253,084...156,264,766
Ensembl chr 4:156,253,079...156,264,769
JBrowse link
G Clec4e C-type lectin domain family 4, member E ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:156,271,087...156,276,243
Ensembl chr 4:156,270,920...156,276,304
JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,044,736...157,078,013
Ensembl chr 4:157,043,925...157,078,130
JBrowse link
G Cops7a COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,479,549...157,486,944
Ensembl chr 4:157,479,549...157,486,914
JBrowse link
G Cracr2a calcium release activated channel regulator 2A ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:160,143,160...160,238,744
Ensembl chr 4:160,168,297...160,194,038
JBrowse link
G Dcp1b decapping mRNA 1B ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:151,249,654...151,287,018
Ensembl chr 4:151,250,041...151,285,702
JBrowse link
G Dppa3 developmental pluripotency-associated 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:155,437,675...155,441,059
Ensembl chr 3:111,298,713...111,299,189
Ensembl chr 4:111,298,713...111,299,189
JBrowse link
G Dyrk4 dual specificity tyrosine phosphorylation regulated kinase 4 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:159,426,447...159,467,973
Ensembl chr 4:159,427,340...159,467,955
JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,222,366...157,230,647
Ensembl chr 4:157,222,385...157,230,647
JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,285,192...157,294,090
Ensembl chr 4:157,285,179...157,294,047
JBrowse link
G Erc1 ELKS/RAB6-interacting/CAST family member 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:152,087,393...152,380,023
Ensembl chr 4:152,087,379...152,380,184
JBrowse link
G Fam90a1 family with sequence similarity 90, member A1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr16:75,001,033...75,016,173 JBrowse link
G Fbxl14 F-box and leucine-rich repeat protein 14 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:151,986,890...151,990,706 JBrowse link
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar PMID:15590700, PMID:15687325, PMID:18682534, PMID:19837926, PMID:24033266, PMID:25378588, PMID:29389098 NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082
JBrowse link
G Fgf6 fibroblast growth factor 6 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:159,563,798...159,572,333
Ensembl chr 4:159,563,798...159,572,333
JBrowse link
G Fkbp4 FKBP prolyl isomerase 4 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:161,748,993...161,757,447
Ensembl chr 4:161,748,993...161,757,447
JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:155,653,446...155,679,815
Ensembl chr 4:155,653,718...155,679,793
JBrowse link
G Foxm1 forkhead box M1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:161,685,236...161,697,633
Ensembl chr 4:161,685,258...161,696,305
JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 OMIM
ClinVar
PMID:3839626, PMID:3998061, PMID:8338191, PMID:13774168, PMID:15133511, PMID:15599692, PMID:15687324, PMID:16528452, PMID:16940445, PMID:17311862, PMID:17351710, PMID:18618993, PMID:20358599, PMID:24668887, PMID:25326635, PMID:25351881, PMID:25741868, PMID:26337219, PMID:28492532 NCBI chr 3:52,174,469...52,212,395
Ensembl chr 3:52,175,547...52,212,412
JBrowse link
G Galnt8 polypeptide N-acetylgalactosaminyltransferase 8 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:159,340,750...159,362,350 JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:155,417,667...155,422,014
Ensembl chr 4:155,417,004...155,421,998
JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262
JBrowse link
G Gpr162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,375,184...157,381,780
Ensembl chr 4:157,375,184...157,381,105
JBrowse link
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,264,383...157,266,042
Ensembl chr 4:157,264,383...157,266,018
JBrowse link
G Iffo1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,659,115...157,676,335
Ensembl chr 4:157,659,147...157,676,331
JBrowse link
G Ing4 inhibitor of growth family, member 4 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,554,729...157,563,353
Ensembl chr 4:157,554,794...157,563,352
JBrowse link
G Iqsec3 IQ motif and Sec7 domain ArfGEF 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:153,948,052...154,044,493
Ensembl chr 4:153,948,055...154,044,493
JBrowse link
G Itfg2 integrin alpha FG-GAP repeat containing 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:161,730,643...161,744,281
Ensembl chr 4:161,730,641...161,743,896
JBrowse link
G Kcna1 potassium voltage-gated channel subfamily A member 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:159,190,781...159,192,526
Ensembl chr 4:159,190,804...159,192,526
JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:159,077,195...159,079,003
Ensembl chr 4:159,077,195...159,079,003
JBrowse link
G Kcna6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:159,253,934...159,287,193
Ensembl chr 4:159,253,934...159,287,193
JBrowse link
G Kdm5a lysine demethylase 5A ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:152,892,388...152,972,196
Ensembl chr 4:152,892,388...152,972,201
JBrowse link
G Kl Klotho ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:17710231, PMID:25741868, PMID:29389098 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
JBrowse link
G Klrg1 killer cell lectin like receptor G1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:155,038,936...155,051,449
Ensembl chr 4:155,039,628...155,051,429
JBrowse link
G Lag3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,425,644...157,433,700
Ensembl chr 4:157,425,644...157,433,467
JBrowse link
G Lpar5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,581,000...157,596,454
Ensembl chr 4:157,594,436...157,595,972
JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,181,722...157,222,997
Ensembl chr 4:157,181,795...157,222,996
JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,294,386...157,304,590
Ensembl chr 4:157,294,287...157,304,653
JBrowse link
G Lrtm2 leucine-rich repeats and transmembrane domains 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:151,375,568...151,397,485
Ensembl chr 4:151,375,572...151,390,263
JBrowse link
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,822,838...157,829,291
Ensembl chr 4:157,822,840...157,829,241
JBrowse link
G M6pr mannose-6-phosphate receptor, cation dependent ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:155,084,755...155,093,896
Ensembl chr 4:155,088,317...155,092,827
JBrowse link
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:155,313,671...155,336,228
Ensembl chr 4:155,313,671...155,336,228
JBrowse link
G Mir141 microRNA 141 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,236,346...157,236,439
Ensembl chr 4:157,236,346...157,236,439
JBrowse link
G Mir200c microRNA 200c ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,236,786...157,236,854 JBrowse link
G Mlf2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,452,578...157,457,254
Ensembl chr 4:157,452,607...157,457,249
JBrowse link
G Mrpl51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,705,790...157,709,452
Ensembl chr 4:157,705,790...157,708,748
JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:155,531,906...155,539,268
Ensembl chr 4:155,531,906...155,539,268
JBrowse link
G Ncapd2 non-SMC condensin I complex, subunit D2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,682,855...157,705,903
Ensembl chr 4:157,683,077...157,704,596
JBrowse link
G Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:159,371,263...159,399,636
Ensembl chr 4:159,371,259...159,399,634
JBrowse link
G Necap1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:155,709,712...155,724,801
Ensembl chr 4:155,709,613...155,724,790
JBrowse link
G Ninj2 ninjurin 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:152,630,464...152,733,631
Ensembl chr 4:152,630,469...152,733,633
JBrowse link
G Nop2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,646,759...157,658,502
Ensembl chr 4:157,647,082...157,658,390
JBrowse link
G Nrip2 nuclear receptor interacting protein 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:161,719,434...161,729,673
Ensembl chr 4:161,720,501...161,729,192
JBrowse link
G Ntf3 neurotrophin 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:158,636,883...158,705,886
Ensembl chr 4:158,636,884...158,705,886
JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,359,331...157,375,186
Ensembl chr 4:157,359,332...157,372,861
JBrowse link
G Parp11 poly (ADP-ribose) polymerase family, member 11 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:160,013,968...160,059,981
Ensembl chr 4:160,020,472...160,058,729
JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,230,769...157,235,375
Ensembl chr 4:157,230,769...157,235,367
JBrowse link
G Phc1 polyhomeotic homolog 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:155,093,947...155,118,838
Ensembl chr 4:155,093,949...155,116,154
JBrowse link
G Pianp PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,508,862...157,517,676
Ensembl chr 4:157,511,642...157,517,669
JBrowse link
G Plekhg6 pleckstrin homology and RhoGEF domain containing G6 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,877,725...157,897,167
Ensembl chr 4:157,878,182...157,894,448
JBrowse link
G Prmt8 protein arginine methyltransferase 8 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:160,253,409...160,334,647
Ensembl chr 4:160,253,073...160,334,910
JBrowse link
G Ptms parathymosin ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,435,371...157,439,507
Ensembl chr 4:157,435,373...157,439,507
JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,239,141...157,263,890
Ensembl chr 4:157,239,142...157,263,890
JBrowse link
G Rad51ap1 RAD51 associated protein 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:159,469,803...159,482,869
Ensembl chr 4:159,469,804...159,482,869
JBrowse link
G Rad52 RAD52 homolog, DNA repair protein ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:152,429,826...152,451,875
Ensembl chr 4:152,430,187...152,451,609
JBrowse link
G RGD1311164 similar to DNA segment, Chr 6, Wayne State University 163, expressed ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:159,483,089...159,518,387
Ensembl chr 4:159,483,131...159,515,447
JBrowse link
G Rhno1 RAD9-HUS1-RAD1 interacting nuclear orphan 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:161,679,674...161,685,060
Ensembl chr 4:161,680,027...161,681,660
JBrowse link
G Rimklb ribosomal modification protein rimK-like family member B ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:155,258,241...155,292,809
Ensembl chr 4:155,260,103...155,275,161
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:155,549,991...155,626,018
Ensembl chr 4:155,408,233...155,631,856
JBrowse link
G Slc6a12 solute carrier family 6 member 12 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:153,921,199...153,941,333
Ensembl chr 4:153,921,115...153,941,391
JBrowse link
G Slc6a13 solute carrier family 6 member 13 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:153,874,942...153,912,185
Ensembl chr 4:153,874,852...153,912,155
JBrowse link
G Spsb2 splA/ryanodine receptor domain and SOCS box containing 2 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,325,980...157,328,380
Ensembl chr 4:157,326,727...157,328,379
JBrowse link
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,735,748...157,743,199
Ensembl chr 4:157,735,748...157,743,199
JBrowse link
G Tead4 TEA domain transcription factor 4 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:161,542,566...161,619,848
Ensembl chr 4:161,540,130...161,587,222
JBrowse link
G Tex52 testis expressed 52 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:161,696,884...161,708,793
Ensembl chr 4:161,696,903...161,705,690
JBrowse link
G Tigar TP53 induced glycolysis regulatory phosphatase ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:159,635,145...159,654,108
Ensembl chr 4:159,635,153...159,654,063
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
JBrowse link
G Tspan9 tetraspanin 9 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:160,530,726...160,725,056
Ensembl chr 4:160,530,720...160,662,974
JBrowse link
G Tulp3 TUB like protein 3 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:161,636,084...161,677,807
Ensembl chr 4:161,637,892...161,658,519
JBrowse link
G Usp5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,332,735...157,347,803
Ensembl chr 4:157,332,740...157,347,803
JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,726,941...157,733,644
Ensembl chr 4:157,726,941...157,733,643
JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:152,452,211...152,578,469
Ensembl chr 4:152,452,848...152,578,446
JBrowse link
G Wnt5b Wnt family member 5B ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:151,500,962...151,516,894
Ensembl chr 4:151,500,957...151,516,894
JBrowse link
G Zfp384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 ClinVar PMID:25378588, PMID:29389098 NCBI chr 4:157,523,083...157,552,606
Ensembl chr 4:157,523,110...157,552,596
JBrowse link
Hyperphosphatemic Familial Tumoral Calcinosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2 ClinVar
OMIM
PMID:11062477, PMID:15590700, PMID:15687325, PMID:16030159, PMID:16151858, PMID:18682534, PMID:18982401, PMID:19837926, PMID:22419710, PMID:24033266, PMID:25445451, PMID:26467025, PMID:28492532, PMID:29389098 NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082
JBrowse link
Hyperphosphatemic Familial Tumoral Calcinosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kl Klotho ISO ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 OMIM
ClinVar
PMID:17710231, PMID:25741868, PMID:28492532, PMID:29389098 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
JBrowse link
Hypocalcemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypocalcemia
CTD
ClinVar
PMID:7874174, PMID:11701698, PMID:28492532 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:3017235 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11701698, PMID:11770836 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
hypochromic microcytic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irx5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr19:16,415,813...16,421,088
Ensembl chr19:16,415,636...16,421,191
JBrowse link
G Slc11a2 solute carrier family 11 member 2 ISS OMIM:206100 | OMIM:615234 MouseDO NCBI chr 7:142,025,812...142,062,892
Ensembl chr 7:142,025,815...142,063,212
JBrowse link
G Steap3 STEAP3 metalloreductase ISS OMIM:206100 | OMIM:615234 MouseDO NCBI chr13:36,257,220...36,274,144
Ensembl chr13:36,257,112...36,290,531
JBrowse link
G Tf transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11110675 NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
JBrowse link
G Tfrc transferrin receptor ISO mRNA,protein:decreased expression: erythrocyte: RGD PMID:18552213 RGD:11062089 NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223
JBrowse link
G Tnf tumor necrosis factor ISO associated with Arthritis, Rheumatoid RGD PMID:18205195 RGD:10450526 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
Hypochromic Microcytic Anemia with Iron Overload term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc11a2 solute carrier family 11 member 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:142,025,812...142,062,892
Ensembl chr 7:142,025,815...142,063,212
JBrowse link
G Steap3 STEAP3 metalloreductase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:36,257,220...36,274,144
Ensembl chr13:36,257,112...36,290,531
JBrowse link
Hypochromic Microcytic Anemia with Iron Overload 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc11a2 solute carrier family 11 member 2 ISO ClinVar Annotator: match by term: Anemia, hypochromic microcytic, with iron overload 1 OMIM
ClinVar
PMID:15459009, PMID:16023393, PMID:16091455, PMID:16140868, PMID:16160008, PMID:16439678, PMID:25741868, PMID:28492532 NCBI chr 7:142,025,812...142,062,892
Ensembl chr 7:142,025,815...142,063,212
JBrowse link
Hypochromic Microcytic Anemia with Iron Overload 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Steap3 STEAP3 metalloreductase ISO ClinVar Annotator: match by OMIM:615234 OMIM
ClinVar
PMID:22031863 NCBI chr13:36,257,220...36,274,144
Ensembl chr13:36,257,112...36,290,531
JBrowse link
hypokalemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1848636, PMID:2826064, PMID:17292646 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: therapeutic CTD PMID:7182184 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B IEP RGD PMID:17409277 RGD:1626084 NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
JBrowse link
G Atp12a ATPase H+/K+ transporting non-gastric alpha2 subunit IEP RGD PMID:9729517 RGD:13838663 NCBI chr15:36,561,306...36,590,171
Ensembl chr15:36,565,495...36,590,171
JBrowse link
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Hypokalemia ClinVar PMID:7894492, PMID:8531967, PMID:8644703, PMID:8833256, PMID:8841191, PMID:9042909, PMID:9150153, PMID:10053113, PMID:10090881, PMID:10447273, PMID:10788334, PMID:11466700, PMID:12142080, PMID:15024741, PMID:15133502, PMID:15353005, PMID:15951956, PMID:15994883, PMID:16541315, PMID:17307836, PMID:18694767, PMID:18762988, PMID:18940477, PMID:19208665, PMID:20301425, PMID:20345474, PMID:20507347, PMID:20569256, PMID:21119707, PMID:21324516, PMID:21503673, PMID:22006311, PMID:22032251, PMID:22185575, PMID:22430266, PMID:23199084, PMID:23232912, PMID:23469205, PMID:23867111, PMID:24033266, PMID:24884479, PMID:25741868, PMID:26295337, PMID:26467025, PMID:26681312, PMID:26718727, PMID:27433846, PMID:28492532, PMID:29335925, PMID:29478780, PMID:29492181, PMID:30311386, PMID:30606148, PMID:31065452 NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
JBrowse link
G Cldn10 claudin 10 ISO ClinVar Annotator: match by term: Hypokalemia ClinVar PMID:25741868 NCBI chr15:104,026,590...104,115,748
Ensembl chr15:104,026,601...104,115,748
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:496411 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Kcnj16 potassium inwardly-rectifying channel, subfamily J, member 16 IMP protein:decreased expression:cortical collecting duct, distal convoluted tubule (rat) RGD PMID:28931751 RGD:38500204 NCBI chr10:99,330,894...99,391,551
Ensembl chr10:99,388,130...99,389,898
JBrowse link
G Nppb natriuretic peptide B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20339970 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11932321 NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:323586, PMID:1327015, PMID:4323972, PMID:6254450, PMID:6258369, PMID:6279499, PMID:8035395, PMID:8562174, PMID:10100081 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Rhcg Rh family, C glycoprotein IEP protein:increased expression:outer medulla of kidney RGD PMID:21753075 RGD:9850155 NCBI chr 1:141,325,854...141,349,881
Ensembl chr 1:141,325,856...141,349,881
JBrowse link
G Slc26a3 solute carrier family 26 member 3 ISO ClinVar Annotator: match by term: Hypokalemia ClinVar PMID:9718329, PMID:18216024, PMID:21332001, PMID:30311386 NCBI chr 6:50,725,085...50,766,306
Ensembl chr 6:50,725,085...50,766,300
JBrowse link
G Sst somatostatin ISO CTD Direct Evidence: therapeutic CTD PMID:2563217 NCBI chr11:80,358,172...80,359,449
Ensembl chr11:80,358,211...80,359,444
JBrowse link
hypophosphatemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19898264 NCBI chr11:65,022,100...65,058,546
Ensembl chr11:65,022,100...65,058,545
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO
IEP
CTD Direct Evidence: marker/mechanism
protein:altered expression:renal cortex, brush border membrane (rat)
mRNA:decreased expression:kidney (mouse)
CTD PMID:9560283, PMID:19515808, PMID:20466874, PMID:9560283, PMID:19933269 RGD:7242939, RGD:7243098, RGD:7243007, RGD:7242942 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis ClinVar PMID:8528215, PMID:9354665, PMID:21920016, PMID:23348723, PMID:24029428, PMID:24033266, PMID:25524745, PMID:25741868, PMID:28492532 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis ClinVar PMID:8528215, PMID:9354665, PMID:21920016, PMID:23348723, PMID:24029428, PMID:24033266, PMID:25524745, PMID:25741868, PMID:28492532 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic, 1 ClinVar PMID:28492532 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic, 1
ClinVar Annotator: match by OMIM:612286
OMIM
ClinVar
PMID:12324554, PMID:16688119, PMID:24033266, PMID:25082825, PMID:25741868, PMID:26047794, PMID:26272126, PMID:27378183, PMID:28492532, PMID:28893421 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc9a3r1 SLC9A3 regulator 1 ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic, 2
ClinVar Annotator: match by OMIM:612287
OMIM
ClinVar
PMID:18784102, PMID:24033266, PMID:25326635, PMID:25741868, PMID:28492532, PMID:28893421 NCBI chr10:103,713,045...103,730,145
Ensembl chr10:103,713,045...103,730,145
JBrowse link
Hypophosphatemic Rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets ClinVar PMID:24033266 NCBI chr14:6,889,851...6,923,961
Ensembl chr14:6,889,856...6,900,733
JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO RGD PMID:22615579 RGD:11558021 NCBI chr12:17,913,771...17,972,733
Ensembl chr12:17,913,767...17,972,737
JBrowse link
G Fgf23 fibroblast growth factor 23 ISO RGD PMID:14988389 RGD:10044208 NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082
JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO ClinVar Annotator: match by term: HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:25741868 NCBI chr  X:40,460,047...40,717,982
Ensembl chr  X:40,460,047...40,717,982
JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS ClinVar PMID:1652893, PMID:2174914, PMID:2177843, PMID:2557627, PMID:2558018, PMID:2849209, PMID:3024987, PMID:8392085, PMID:8675579, PMID:8862631, PMID:8961271, PMID:9005998, PMID:9360557, PMID:9495519, PMID:10707958, PMID:11564167, PMID:17130574, PMID:17371163, PMID:17970811, PMID:18159135, PMID:18279374, PMID:18593774, PMID:19682379, PMID:20200114, PMID:21168462, PMID:21931507, PMID:22992668, PMID:23180655, PMID:24033266, PMID:24073221, PMID:25741868, PMID:26177022, PMID:26198224, PMID:26590811, PMID:26631034, PMID:26911666, PMID:27164139, PMID:27607899, PMID:27778467, PMID:28492532 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: HYPOPHOSPHATEMIA, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:241520
OMIM
ClinVar
PMID:17033621, PMID:17033625, PMID:21050253, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr14:6,889,851...6,923,961
Ensembl chr14:6,889,856...6,900,733
JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2
ClinVar Annotator: match by OMIM:613312
DNA:missense mutation:cds:p.Y901S (human)
ClinVar
OMIM
PMID:8960499, PMID:10480624, PMID:11739459, PMID:12881724, PMID:14671192, PMID:14988267, PMID:15001634, PMID:15126519, PMID:15605415, PMID:15677494, PMID:16025115, PMID:16315058, PMID:16607460, PMID:16968801, PMID:19229237, PMID:20016754, PMID:20137772, PMID:20137773, PMID:24033266, PMID:25741868, PMID:27467858, PMID:28492532, PMID:20137773, PMID:20137772 RGD:6906930, RGD:6906931 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
ClinVar Annotator: match by OMIM:607236
OMIM
ClinVar
PMID:1734303, PMID:7898702, PMID:11479594, PMID:12058097, PMID:12510040, PMID:14638969, PMID:15565311, PMID:15659606, PMID:15834858, PMID:16272150, PMID:16437574, PMID:16450344, PMID:22221393, PMID:22416811, PMID:23968566, PMID:24075960, PMID:24215330, PMID:24348190, PMID:25741868, PMID:25802776, PMID:26087139, PMID:26795593, PMID:27185474, PMID:28492532, PMID:28708303, PMID:28781879, PMID:29590070, PMID:30311386, PMID:32581362 NCBI chr 3:123,807,911...123,841,797
Ensembl chr 3:123,807,952...123,841,797
JBrowse link
Idiopathic Basal Ganglia Calcification 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna6 cholinergic receptor nicotinic alpha 6 subunit ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:68,860,018...68,866,718
Ensembl chr16:68,860,018...68,866,718
JBrowse link
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:68,876,442...68,913,628
Ensembl chr16:68,875,709...68,913,628