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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:renal tubular transport disease
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Accession:DOID:447 term browser browse the term
Definition:Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES.
Synonyms:exact_synonym: Kidney Tubular Transport, Inborn Error;   Kidney Tubular Transport, Inborn Errors;   Renal Tubular Transport Errors;   Renal Tubular Transport, Inborn Error;   Renal Tubular Transport, Inborn Errors;   inborn renal tubular transport disorder
 primary_id: MESH:D015499
 alt_id: RDO:0001805
For additional species annotation, visit the Alliance of Genome Resources.


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renal tubular transport disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Auh AU RNA binding methylglutaconyl-CoA hydratase susceptibility ISO RGD PMID:12434311 RGD:1599425 NCBI chr17:12,310,178...12,405,224
Ensembl chr17:12,310,214...12,405,205
JBrowse link
G Clcn5 chloride voltage-gated channel 5 IDA RGD PMID:12475763 RGD:628538 NCBI chr  X:16,170,585...16,196,691
Ensembl chr  X:16,050,780...16,196,789
JBrowse link
G Cldn16 claudin 16 susceptibility ISO DNA:mutation: ; PRIMARY HYPOMAGNESEMIA, OMIM#248250 RGD PMID:10390358 RGD:1599615 NCBI chr11:77,683,942...77,703,232
Ensembl chr11:77,681,794...77,703,255
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 dominant pseudohypoaldosteronism type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cul3 cullin 3 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:25741868, PMID:28492532 NCBI chr 9:86,044,485...86,129,066
Ensembl chr 9:86,044,485...86,129,329
JBrowse link
G Klhl3 kelch-like family member 3 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr17:6,924,423...7,029,374
Ensembl chr17:6,935,860...7,029,240
JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1
ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant
ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal dominant
ClinVar
OMIM
PMID:9662404, PMID:11134129, PMID:11344206, PMID:12483305, PMID:12679457, PMID:12788847, PMID:14715854, PMID:15126534, PMID:16611713, PMID:16757525, PMID:16954160, PMID:19571553, PMID:20030467, PMID:24033266, PMID:25251996, PMID:25741868, PMID:27780983, PMID:28492532, PMID:30763456, PMID:9662404 RGD:1600930 NCBI chr19:34,408,275...34,761,003
Ensembl chr19:34,448,289...34,752,695
JBrowse link
G Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant ClinVar NCBI chr 3:172,154,739...172,183,699
Ensembl chr 3:172,154,754...172,183,732
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
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Car2 carbonic anhydrase 2 ISO ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis
ClinVar Annotator: match by OMIM:259730
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1301935, PMID:1542674, PMID:1928091, PMID:4624444, PMID:5041390, PMID:7627193, PMID:8127074, PMID:8128957, PMID:8834238, PMID:12566520, PMID:18060825, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 2:88,097,740...88,112,868
Ensembl chr 2:88,097,720...88,113,029
JBrowse link
autosomal recessive pseudohypoaldosteronism type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive
ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal recessive
ClinVar PMID:25741868 NCBI chr 4:157,822,838...157,829,291
Ensembl chr 4:157,822,840...157,829,241
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1
ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive
ClinVar
OMIM
PMID:1506904, PMID:8589714, PMID:10510337, PMID:10523338, PMID:10586178, PMID:11978598, PMID:15734793, PMID:16249274, PMID:19462466, PMID:20194130, PMID:21889619, PMID:21917531, PMID:23149595, PMID:24033266, PMID:25741868, PMID:26668308, PMID:28492532 NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1
ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive
ClinVar
OMIM
PMID:8589714, PMID:9118951, PMID:9576123, PMID:9674649, PMID:10523338, PMID:11439319, PMID:15661075, PMID:16207733, PMID:18507830, PMID:19017867, PMID:19462466, PMID:21504729, PMID:24033266, PMID:25333069, PMID:25741868, PMID:25900089, PMID:26038974, PMID:26467025, PMID:28492532 NCBI chr 1:191,829,547...191,883,991
Ensembl chr 1:191,829,555...191,884,298
JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism type 1 autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1
ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive
ClinVar
OMIM
PMID:8640238, PMID:10391210, PMID:11231969, PMID:12473862, PMID:15198480, PMID:17460608, PMID:17634077, PMID:18507830, PMID:19462466, PMID:21956615, PMID:22995991, PMID:23149595, PMID:24033266, PMID:24882431, PMID:25741868, PMID:25900089, PMID:26135620, PMID:26467025, PMID:26537344, PMID:27884173, PMID:28492532, PMID:28497567, PMID:29229744, PMID:31655555 NCBI chr 1:191,704,397...191,738,271
Ensembl chr 1:191,704,311...191,738,268
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Recessive ClinVar NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
Bartter disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory subunit beta ISO Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon
ClinVar Annotator: match by term: Bartter's syndrome
ClinVar PMID:11687798 RGD:1600603 NCBI chr 5:126,071,849...126,080,647
Ensembl chr 5:126,071,846...126,080,698
JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO CTD Direct Evidence: marker/mechanism CTD PMID:10561751 NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676
JBrowse link
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Antenatal Bartter Syndrome
CTD
ClinVar
PMID:10561751, PMID:12911542, PMID:16982955, PMID:22275899, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 8:33,490,280...33,519,127
Ensembl chr 8:33,514,042...33,518,165
JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:929154, PMID:3519017, PMID:15976003 NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO antenatal Bartter syndrome type 1,OMIM:601678;DNA:point mutation:exon:D648N, V272F
CTD Direct Evidence: marker/mechanism
CTD PMID:10561751, PMID:8640224 RGD:1624188 NCBI chr 3:117,421,531...117,498,372
Ensembl chr 3:117,421,604...117,498,367
JBrowse link
Bartter disease type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal
ClinVar Annotator: match by OMIM:601678
OMIM
ClinVar
PMID:8640224, PMID:9355073, PMID:9585600, PMID:12761241, PMID:15167446, PMID:18391953, PMID:19096086, PMID:19513753, PMID:19602640, PMID:20219833, PMID:21157372, PMID:21209010, PMID:23897314, PMID:24033266, PMID:24253496, PMID:24550759, PMID:25326637, PMID:25741868, PMID:26467025, PMID:26963954, PMID:28000888, PMID:28095294, PMID:28492532, PMID:28893421, PMID:30113482 NCBI chr 3:117,421,531...117,498,372
Ensembl chr 3:117,421,604...117,498,367
JBrowse link
Bartter disease type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 ISO ClinVar Annotator: match by term: Bartter syndrome, type 2, antenatal
ClinVar Annotator: match by OMIM:241200
OMIM
ClinVar
PMID:8841184, PMID:9002665, PMID:9015377, PMID:9580661, PMID:9727001, PMID:12911542, PMID:18391953, PMID:19096086, PMID:19602640, PMID:20699659, PMID:22245519, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 8:33,490,280...33,519,127
Ensembl chr 8:33,514,042...33,518,165
JBrowse link
Bartter disease type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Bartter syndrome type 3 ClinVar PMID:25741868 NCBI chr 5:159,931,497...159,946,483
Ensembl chr 5:159,931,511...159,946,446
JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Bartter syndrome type 3
ClinVar Annotator: match by OMIM:607364
OMIM
ClinVar
PMID:9326936, PMID:10831588, PMID:10906158, PMID:11102542, PMID:11734858, PMID:17185149, PMID:21631963, PMID:23991001, PMID:24033266, PMID:24058621, PMID:24830959, PMID:25326637, PMID:25525159, PMID:25741868, PMID:25810436, PMID:26467025, PMID:28288174, PMID:28555925, PMID:32576985 NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676
JBrowse link
Bartter disease type 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Bartter disease type 4a
ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS
ClinVar Annotator: match by OMIM:602522
OMIM
ClinVar
PMID:9463315, PMID:11687798, PMID:11734858, PMID:12574213, PMID:16328537, PMID:16572343, PMID:16583241, PMID:16773427, PMID:16935888, PMID:17954364, PMID:18776122, PMID:19025784, PMID:19096086, PMID:19646679, PMID:21269598, PMID:21541222, PMID:21865213, PMID:23967202, PMID:24033266, PMID:24902942, PMID:25741868, PMID:26467025, PMID:26537508, PMID:28012523, PMID:28492532, PMID:29254190, PMID:30174009 NCBI chr 5:126,071,849...126,080,647
Ensembl chr 5:126,071,846...126,080,698
JBrowse link
Bartter disease type 4b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by OMIM:613090
ClinVar Annotator: match by term: Bartter syndrome, type 4b
ClinVar
OMIM
PMID:15044642, PMID:18310267, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 5:159,931,497...159,946,483
Ensembl chr 5:159,931,511...159,946,446
JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO OMIM NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676
JBrowse link
Bartter disease type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maged2 MAGE family member D2 ISO ClinVar Annotator: match by term: Bartter syndrome, type 5, antenatal, transient ClinVar
OMIM
PMID:27120771 NCBI chr 5:33,174,539...33,182,715
Ensembl chr 5:33,174,542...33,182,715
JBrowse link
Bartter Syndrome Type 3, with Hypocalciuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria
ClinVar PMID:15531551, PMID:16902263, PMID:20810575, PMID:26920127, PMID:28492532 NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676
JBrowse link
cataract 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a12 solute carrier family 16, member 12 ISO ClinVar Annotator: match by OMIM:612018 OMIM
ClinVar
PMID:17458810, PMID:18304496, PMID:21778275, PMID:26376857 NCBI chr 1:252,976,071...253,054,500
Ensembl chr 1:252,976,644...253,000,760
JBrowse link
cystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:12097257, PMID:12491499, PMID:12672316, PMID:16615107, PMID:16644204, PMID:16777318, PMID:24504028, PMID:25741868, PMID:25823446, PMID:26187060, PMID:26295337, PMID:26467025, PMID:28477318, PMID:29446198, PMID:29470806, PMID:30209399, PMID:30702160 NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
JBrowse link
G Ccdc8 coiled-coil domain containing 8 ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:30311386 NCBI chr 1:78,933,372...78,936,700
Ensembl chr 1:78,933,372...78,936,700
JBrowse link
G Cep89 centrosomal protein 89 ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:21681106 NCBI chr 1:91,663,723...91,705,979
Ensembl chr 1:91,663,736...91,706,094
JBrowse link
G Prepl prolyl endopeptidase-like ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Cystinuria
ClinVar PMID:7573036, PMID:8054986, PMID:8792820, PMID:9768685, PMID:10620184, PMID:11260385, PMID:11748844, PMID:15635077, PMID:20517292, PMID:21677404, PMID:22493502, PMID:22796000, PMID:23532419, PMID:24033266, PMID:24610330, PMID:25741868, PMID:25964309, PMID:26537754, PMID:28492532, PMID:28646536, PMID:28717662 NCBI chr 6:8,316,861...8,346,293
Ensembl chr 6:8,318,979...8,346,197
JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:18716613, PMID:27247962, PMID:28492532, PMID:30311386 NCBI chr 7:117,765,892...117,773,128
Ensembl chr 7:117,763,783...117,773,134
JBrowse link
G Slc3a1 solute carrier family 3 member 1 susceptibility ISO DNA:missense mutations
ClinVar Annotator: match by term: Cystinuria
ClinVar Annotator: match by OMIM:220100
ClinVar
OMIM
PMID:7539209, PMID:7573036, PMID:8054986, PMID:8731106, PMID:8792820, PMID:9083097, PMID:9186880, PMID:9648062, PMID:9719865, PMID:9768685, PMID:10620184, PMID:11260385, PMID:11748844, PMID:12036192, PMID:12234283, PMID:12820697, PMID:14531788, PMID:14991253, PMID:15635077, PMID:15691362, PMID:16138908, PMID:16225397, PMID:17010017, PMID:17880288, PMID:18332091, PMID:18414213, PMID:18704508, PMID:18947684, PMID:19782624, PMID:20517292, PMID:21255007, PMID:21488254, PMID:21677404, PMID:22480232, PMID:22493502, PMID:22796000, PMID:23007880, PMID:23532419, PMID:24033266, PMID:24215330, PMID:24610330, PMID:25109415, PMID:25296721, PMID:25741868, PMID:25964309, PMID:26537754, PMID:28166740, PMID:28492532, PMID:28646536, PMID:28717662, PMID:30146843, PMID:8054986 RGD:1600015 NCBI chr 6:8,284,937...8,318,649
Ensembl chr 6:8,284,878...8,318,674
JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO DNA:missense mutations, nonsense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Cystinuria
ClinVar Annotator: match by term: Cystine urolithiasis
ClinVar Annotator: match by OMIM:220100
ClinVar
OMIM
PMID:6031738, PMID:10471498, PMID:11013083, PMID:11157794, PMID:11260385, PMID:11748844, PMID:12036192, PMID:12234283, PMID:12234930, PMID:12239244, PMID:12371955, PMID:12820697, PMID:15635077, PMID:15670723, PMID:16138908, PMID:16225397, PMID:16374432, PMID:16834950, PMID:16838140, PMID:17539912, PMID:18414213, PMID:19782624, PMID:21255007, PMID:21677404, PMID:21681106, PMID:22480232, PMID:23532419, PMID:24033266, PMID:25109415, PMID:25296721, PMID:25599739, PMID:25741868, PMID:25964309, PMID:26123750, PMID:28492532, PMID:28646536, PMID:28717662, PMID:28812535, PMID:30311386, PMID:10471498 RGD:737767 NCBI chr 1:91,709,034...91,738,492
Ensembl chr 1:91,716,383...91,738,494
JBrowse link
Dent disease 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
ClinVar Annotator: match by term: Dent's disease
ClinVar Annotator: match by term: Dent Disease
CTD
ClinVar
PMID:10561751, PMID:15719255, PMID:15814539, PMID:20804101, PMID:28492532 NCBI chr  X:16,170,585...16,196,691
Ensembl chr  X:16,050,780...16,196,789
JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISS OMIM:300009 | OMIM:300555 MouseDO NCBI chr  X:134,742,226...134,793,411
Ensembl chr  X:134,742,356...134,792,618
JBrowse link
Dent Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Nephrolithiasis 2
ClinVar Annotator: match by term: Dent disease 1
ClinVar Annotator: match by OMIM:300009
OMIM
ClinVar
PMID:7874126, PMID:7915957, PMID:8559248, PMID:8950885, PMID:9062355, PMID:9187673, PMID:9259268, PMID:9328929, PMID:9734595, PMID:9853249, PMID:10469281, PMID:10906159, PMID:11136179, PMID:12637640, PMID:14569459, PMID:15052463, PMID:15086899, PMID:15719255, PMID:15895257, PMID:16041495, PMID:16247550, PMID:16822791, PMID:16861240, PMID:18038239, PMID:18184518, PMID:19076289, PMID:19546586, PMID:19546591, PMID:19657328, PMID:19673950, PMID:19806368, PMID:24081861, PMID:25326635, PMID:25741868, PMID:25907713, PMID:26822237, PMID:28492532 NCBI chr  X:16,170,585...16,196,691
Ensembl chr  X:16,050,780...16,196,789
JBrowse link
G Mir188 microRNA 188 ISO ClinVar Annotator: match by term: Dent disease 1 ClinVar PMID:7874126, PMID:9328929, PMID:15052463 NCBI chr  X:16,110,270...16,110,349
Ensembl chr  X:16,110,270...16,110,349
JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: Dent disease 1 ClinVar PMID:7874126, PMID:9328929, PMID:15052463 NCBI chr  X:16,121,332...16,121,411
Ensembl chr  X:16,121,322...16,121,413
JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: Dent disease 1 ClinVar PMID:7874126, PMID:9328929, PMID:15052463 NCBI chr  X:16,109,870...16,109,948
Ensembl chr  X:16,109,870...16,109,948
JBrowse link
Dent Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inpp5b inositol polyphosphate-5-phosphatase B ISO ClinVar Annotator: match by term: Dent disease type 2 ClinVar PMID:28018608 NCBI chr 5:142,731,767...142,796,305
Ensembl chr 5:142,731,767...142,796,305
JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Dent disease type 2 OMIM
ClinVar
PMID:15627218, PMID:17162149, PMID:17384968, PMID:21031565, PMID:24081861, PMID:25480730, PMID:25741868, PMID:27625797, PMID:28018608, PMID:28492532 NCBI chr  X:134,742,226...134,793,411
Ensembl chr  X:134,742,356...134,792,618
JBrowse link
dicarboxylic aminoaciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc1a1 solute carrier family 1 member 1 ISO ClinVar Annotator: match by term: Dicarboxylic aminoaciduria
ClinVar Annotator: match by term: Dicarboxylicaminoaciduria
OMIM
ClinVar
PMID:21123949, PMID:25741868, PMID:28492532 NCBI chr 1:246,955,017...247,035,159
Ensembl chr 1:246,954,980...247,037,056
JBrowse link
G Spata6l spermatogenesis associated 6-like ISO ClinVar Annotator: match by term: Dicarboxylic aminoaciduria ClinVar PMID:21123949, PMID:25741868, PMID:28492532 NCBI chr 1:247,037,004...247,088,124
Ensembl chr 1:247,046,650...247,088,012
JBrowse link
Distal Renal Tubular Acidosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Autosomal dominant distal renal tubular acidosis
ClinVar Annotator: match by term: Renal Tubular Acidosis, Type I
ClinVar Annotator: match by term: Renal tubular acidosis, autosomal dominant
ClinVar
OMIM
PMID:893429, PMID:1419785, PMID:1520883, PMID:1678289, PMID:1696010, PMID:2146504, PMID:2196932, PMID:2527366, PMID:4116984, PMID:7812009, PMID:8206915, PMID:8210309, PMID:8343110, PMID:8471774, PMID:8608262, PMID:8704215, PMID:9312167, PMID:9600966, PMID:9734643, PMID:10926824, PMID:11155072, PMID:19229254, PMID:21039340, PMID:22126643, PMID:23255290, PMID:24033266, PMID:25111073, PMID:25296721, PMID:25741868, PMID:26571219, PMID:26879370, PMID:28492532 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, with progressive deafness
ClinVar Annotator: match by term: Renal tubular acidosis with progressive nerve deafness
ClinVar Annotator: match by OMIM:267300
ClinVar
OMIM
PMID:7499943, PMID:9916796, PMID:11045400, PMID:12414817, PMID:12566520, PMID:12579397, PMID:16611712, PMID:16769747, PMID:17669226, PMID:18368028, PMID:18798332, PMID:22509993, PMID:23729491, PMID:23923981, PMID:24033266, PMID:24448499, PMID:25296721, PMID:25741868, PMID:26453614, PMID:26467025, PMID:27247958, PMID:28188436, PMID:28233610, PMID:28492532, PMID:28893421, PMID:29310826 NCBI chr 4:115,417,100...115,435,754
Ensembl chr 4:115,416,580...115,437,206
JBrowse link
Distal Renal Tubular Acidosis 3, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a4 ATPase H+ transporting V0 subunit a4 ISO ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing
ClinVar Annotator: match by term: Renal tubular acidosis, distal, autosomal recessive
ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Recessive
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:10973252, PMID:12414817, PMID:16611712, PMID:19364879, PMID:23754897, PMID:24033266, PMID:24252324, PMID:25741868, PMID:26208211, PMID:27247958, PMID:28492532, PMID:29311258 NCBI chr 4:65,736,585...65,821,916
Ensembl chr 4:65,736,585...65,818,521
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO RGD PMID:17409310 RGD:13208934 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Tmem213 transmembrane protein 213 ISO ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Recessive ClinVar NCBI chr 4:65,800,410...65,823,205
Ensembl chr 4:65,801,505...65,807,365
JBrowse link
Distal Renal Tubular Acidosis 4 with Hemolytic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA
ClinVar Annotator: match by term: Renal tubular acidosis, distal, with hemolytic anemia
ClinVar Annotator: match by OMIM:611590
OMIM
ClinVar
PMID:9207478, PMID:9312167, PMID:9854053, PMID:10926824, PMID:10942416, PMID:12087557, PMID:12938018, PMID:15211439, PMID:22126643, PMID:25741868 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, with hemolytic anemia ClinVar PMID:30028003 NCBI chr 8:80,965,734...81,125,710
Ensembl chr 8:80,965,255...81,039,246
JBrowse link
Donnai-Barrow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Donnai Barrow syndrome ClinVar PMID:19136951, PMID:25741868, PMID:28492532 NCBI chr 9:30,939,555...31,038,381
Ensembl chr 9:30,939,555...31,038,379
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: Donnai-Barrow syndrome
ClinVar Annotator: match by term: Donnai Barrow syndrome
ClinVar Annotator: match by OMIM:222448
OMIM
ClinVar
PMID:8266995, PMID:9475100, PMID:11964399, PMID:11994745, PMID:12923867, PMID:16828734, PMID:17632512, PMID:18414213, PMID:18553518, PMID:20359920, PMID:23033978, PMID:23992033, PMID:24319098, PMID:24406863, PMID:24876117, PMID:25158045, PMID:25326635, PMID:25682901, PMID:25741868, PMID:26118977, PMID:26529358, PMID:28492532, PMID:32238909 NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
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
Familial Renal Hypouricemia due to Tubular Hypersecretion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc22a12 solute carrier family 22 member 12 ISO ClinVar Annotator: match by term: Familial renal hypouricemia ClinVar PMID:12024214, PMID:14655203, PMID:14694169, PMID:15054642, PMID:15327384, PMID:15634722, PMID:15741204, PMID:15912381, PMID:16385546, PMID:16703794, PMID:17103332, PMID:17362586, PMID:18492088, PMID:18760270, PMID:19019168, PMID:21148271, PMID:21211204, PMID:21366895, PMID:21614936, PMID:22045201, PMID:22194875, PMID:23386035, PMID:23525542, PMID:24033266, PMID:24827988, PMID:25264011, PMID:25658588, PMID:25741868, PMID:26603249, PMID:28492532, PMID:29486147, PMID:29659532 NCBI chr 1:221,910,787...221,919,277
Ensembl chr 1:221,910,767...221,919,301
JBrowse link
G Slc2a9 solute carrier family 2 member 9 ISO ClinVar Annotator: match by term: Familial renal hypouricemia ClinVar NCBI chr14:77,067,537...77,192,702
Ensembl chr14:77,067,503...77,192,702
JBrowse link
Fanconi renotubular syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ehhadh enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase ISO ClinVar Annotator: match by term: Fanconi renotubular syndrome 1 ClinVar PMID:25741868 NCBI chr11:82,945,104...82,978,364
Ensembl chr11:82,945,104...82,978,364
JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: Fanconi renotubular syndrome 1 OMIM
ClinVar
PMID:29654216 NCBI chr 3:114,711,570...114,728,155
Ensembl chr 3:114,711,562...114,728,410
JBrowse link
Fanconi renotubular syndrome 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: Fanconi renotubular syndrome 2 OMIM
ClinVar
PMID:2842681, PMID:20335586 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
Fanconi renotubular syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ehhadh enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase ISO ClinVar Annotator: match by term: Fanconi renotubular syndrome 3 OMIM
ClinVar
PMID:1627757, PMID:24401050 NCBI chr11:82,945,104...82,978,364
Ensembl chr11:82,945,104...82,978,364
JBrowse link
Fanconi renotubular syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf4a hepatocyte nuclear factor 4, alpha ISO ClinVar Annotator: match by term: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young OMIM
ClinVar
PMID:20164212, PMID:22802087, PMID:24285859, PMID:25741868, PMID:25819479, PMID:27245055, PMID:28458902, PMID:28693455 NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
JBrowse link
Fanconi renotubular syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 ISO ClinVar Annotator: match by term: FANCONI RENOTUBULAR SYNDROME 5 OMIM
ClinVar
PMID:27466185 NCBI chr 5:24,297,169...24,320,804
Ensembl chr 5:24,297,094...24,320,786
JBrowse link
Fanconi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ehhadh enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:82,945,104...82,978,364
Ensembl chr11:82,945,104...82,978,364
JBrowse link
G Gatm glycine amidinotransferase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:114,711,570...114,728,155
Ensembl chr 3:114,711,562...114,728,410
JBrowse link
G Gpx3 glutathione peroxidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9851889 NCBI chr10:40,247,436...40,255,423
Ensembl chr10:40,247,436...40,255,422
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISS OMIM:134600 | OMIM:613388 | OMIM:615605 MouseDO NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
JBrowse link
G Ldha lactate dehydrogenase A ISO ClinVar Annotator: match by term: Glycogen storage disease XI ClinVar PMID:1953713, PMID:1959923, PMID:2334430, PMID:3092644, PMID:8327147, PMID:26838040, PMID:28492532 NCBI chr 1:102,900,288...102,909,713
Ensembl chr 1:102,900,286...102,909,707
JBrowse link
G Lrp2 LDL receptor related protein 2 ISS OMIM:134600 | OMIM:613388 | OMIM:615605 MouseDO NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO ClinVar Annotator: match by term: Fanconi-Bickel syndrome
ClinVar Annotator: match by OMIM:227810
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:6274135, PMID:7564233, PMID:7632512, PMID:8362811, PMID:9266402, PMID:9354798, PMID:9686354, PMID:10697967, PMID:10987651, PMID:11044475, PMID:11810292, PMID:13480676, PMID:14551916, PMID:14688257, PMID:15397919, PMID:18414213, PMID:22145468, PMID:22865906, PMID:23986439, PMID:24033266, PMID:24718840, PMID:25741868, PMID:25919556, PMID:27487919, PMID:27738794, PMID:28492532 NCBI chr 2:114,413,427...114,445,418
Ensembl chr 2:114,413,410...114,445,395
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO DNA:duplication:exon:g.2061_2081dup (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:20335586 RGD:7242923 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
Gitelman syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnkb chloride voltage-gated channel Kb ISO RGD PMID:11102542 RGD:1300379 NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676
JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO DNA:snp:intron:IVS9+1G>T (human)
ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia
ClinVar Annotator: match by OMIM:263800
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:8528245, PMID:8812482, PMID:8865231, PMID:8900229, PMID:8954067, PMID:9596079, PMID:9734597, PMID:10561751, PMID:10616841, PMID:10988270, PMID:11168953, PMID:11408395, PMID:11532083, PMID:11940055, PMID:12008755, PMID:12039972, PMID:12112667, PMID:12185467, PMID:12911530, PMID:14655226, PMID:14675033, PMID:14766743, PMID:15069170, PMID:15102966, PMID:15198479, PMID:15309683, PMID:15687331, PMID:15824853, PMID:15976513, PMID:16471174, PMID:16966826, PMID:17000984, PMID:17044667, PMID:17159356, PMID:17329572, PMID:17414160, PMID:17460608, PMID:17654016, PMID:17699451, PMID:17873326, PMID:17885550, PMID:18270262, PMID:18287808, PMID:18344243, PMID:18362449, PMID:18391953, PMID:18580052, PMID:19016647, PMID:19033254, PMID:19207868, PMID:19349556, PMID:19420906, PMID:19451210, PMID:19489442, PMID:19668106, PMID:20072789, PMID:20675610, PMID:20810575, PMID:20848653, PMID:20981092, PMID:21051746, PMID:21256383, PMID:21415153, PMID:21628937, PMID:21631963, PMID:21654754, PMID:21753071, PMID:21757836, PMID:22009145, PMID:22169961, PMID:22214629, PMID:22241817, PMID:22245519, PMID:22484642, PMID:22627394, PMID:22802996, PMID:22934535, PMID:22990302, PMID:23328711, PMID:23475471, PMID:23698802, PMID:23756661, PMID:23833262, PMID:24033266, PMID:24088041, PMID:24759409, PMID:24776766, PMID:24790334, PMID:25112827, PMID:25140267, PMID:25165177, PMID:25422309, PMID:25741868, PMID:25815233, PMID:25841442, PMID:25852896, PMID:25990047, PMID:26041598, PMID:26121437, PMID:26221292, PMID:26467025, PMID:26633545, PMID:26770037, PMID:26830254, PMID:26921350, PMID:26990548, PMID:27173320, PMID:27453715, PMID:27454426, PMID:27582097, PMID:27872838, PMID:28325561, PMID:28469853, PMID:28492532, PMID:28947054, PMID:29925901, PMID:29942493, PMID:30136149, PMID:30413979, PMID:30596175, PMID:31398183, PMID:16221718 RGD:1580588 NCBI chr19:11,106,033...11,144,674
Ensembl chr19:11,106,033...11,144,641
JBrowse link
G Stk39 serine threonine kinase 39 ISS OMIM:263800 MouseDO NCBI chr 3:54,359,449...54,625,702
Ensembl chr 3:54,359,451...54,625,414
JBrowse link
G Wnk4 WNK lysine deficient protein kinase 4 ISS OMIM:263800 MouseDO NCBI chr10:89,181,139...89,198,213
Ensembl chr10:89,181,165...89,198,213
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
Hartnup disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a19 solute carrier family 6 member 19 susceptibility ISO DNA:mutations
ClinVar Annotator: match by term: Neutral 1 amino acid transport defect
ClinVar Annotator: match by term: Hartnup disease
ClinVar Annotator: match by OMIM:234500
ClinVar
OMIM
PMID:15286787, PMID:15286788, PMID:17555458, PMID:18484095, PMID:19185582, PMID:19472175, PMID:20399395, PMID:24033266, PMID:25741868, PMID:28924877, PMID:15286787 RGD:1600035 NCBI chr 1:32,199,869...32,218,628
Ensembl chr 1:32,199,810...32,220,045
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
Hypomagnesemia, Seizures, and Mental Retardation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Hypomagnesemia, seizures, and mental retardation 1 OMIM
ClinVar
PMID:24699222, PMID:25741868 NCBI chr 1:266,530,421...266,651,292
Ensembl chr 1:266,530,477...266,649,398
JBrowse link
Hypomagnesemia, Seizures, and Mental Retardation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2 ClinVar
OMIM
PMID:30388404 NCBI chr 2:204,003,742...204,032,023
Ensembl chr 2:204,003,742...204,032,023
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, 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
hypotonia-cystinuria syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camkmt calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,346,645...8,729,773
Ensembl chr 6:8,669,722...8,729,771
JBrowse link
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,219,385...8,280,127
Ensembl chr 6:8,218,696...8,280,124
JBrowse link
G Prepl prolyl endopeptidase-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,316,861...8,346,293
Ensembl chr 6:8,318,979...8,346,197
JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,284,937...8,318,649
Ensembl chr 6:8,284,878...8,318,674
JBrowse link
Iminoglycinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc36a2 solute carrier family 36 member 2 ISO ClinVar Annotator: match by null OMIM
ClinVar
PMID:19033659 NCBI chr10:40,497,184...40,525,033
Ensembl chr10:40,496,622...40,525,008
JBrowse link
G Slc6a19 solute carrier family 6 member 19 ISO OMIM NCBI chr 1:32,199,869...32,218,628
Ensembl chr 1:32,199,810...32,220,045
JBrowse link
G Slc6a20 solute carrier family 6 member 20 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
PMID:21572414 NCBI chr 8:132,713,013...132,753,145
Ensembl chr 8:132,665,927...132,753,292
JBrowse link
Liddle syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12185466 NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23348737 NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18398334, PMID:19344079, PMID:10589691 RGD:737753 NCBI chr 1:191,829,547...191,883,991
Ensembl chr 1:191,829,555...191,884,298
JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO DNA:nonsense mutation:exon:p.W574X (human) RGD PMID:7550319 RGD:737754 NCBI chr 1:191,704,397...191,738,271
Ensembl chr 1:191,704,311...191,738,268
JBrowse link
Liddle Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scnn1b sodium channel epithelial 1 subunit beta ISO ClinVar Annotator: match by term: Liddle syndrome 1
ClinVar Annotator: match by term: Pseudoprimary hyperaldosteronism
ClinVar Annotator: match by term: LIDDLE SYNDROME 1
OMIM
ClinVar
PMID:7777572, PMID:7954808, PMID:8524790, PMID:8589714, PMID:8601645, PMID:9100575, PMID:9118951, PMID:9350583, PMID:9576123, PMID:9626162, PMID:9674649, PMID:10523338, PMID:11439319, PMID:14645220, PMID:15483078, PMID:15661075, PMID:16207733, PMID:18507830, PMID:19017867, PMID:19462466, PMID:21504729, PMID:22809657, PMID:24033266, PMID:25333069, PMID:25741868, PMID:25900089, PMID:26038974, PMID:26075967, PMID:26467025, PMID:27896928, PMID:27900368, PMID:28236585, PMID:28492532 NCBI chr 1:191,829,547...191,883,991
Ensembl chr 1:191,829,555...191,884,298
JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO ClinVar Annotator: match by term: LIDDLE SYNDROME 1 ClinVar NCBI chr 1:191,704,397...191,738,271
Ensembl chr 1:191,704,311...191,738,268
JBrowse link
Liddle Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scnn1g sodium channel epithelial 1 subunit gamma ISO ClinVar Annotator: match by term: LIDDLE SYNDROME 2 ClinVar
OMIM
PMID:7550319, PMID:10391210, PMID:12473862, PMID:15198480, PMID:17460608, PMID:17634077, PMID:18507830, PMID:19462466, PMID:20376790, PMID:21956615, PMID:22995991, PMID:23149595, PMID:24033266, PMID:24882431, PMID:25741868, PMID:25900089, PMID:26135620, PMID:26467025, PMID:26537344, PMID:27884173, PMID:28492532, PMID:28497567, PMID:29229744, PMID:31655555 NCBI chr 1:191,704,397...191,738,271
Ensembl chr 1:191,704,311...191,738,268
JBrowse link
Liddle Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: LIDDLE SYNDROME 3 ClinVar
OMIM
PMID:28710092 NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
JBrowse link
low molecular weight proteinuria with hypercalciuric nephrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
ClinVar Annotator: match by OMIM:308990
OMIM
ClinVar
PMID:8559248, PMID:9062355, PMID:25741868 NCBI chr  X:16,170,585...16,196,691
Ensembl chr  X:16,050,780...16,196,789
JBrowse link
oculocerebrorenal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actrt1 actin-related protein T1 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chr  X:133,227,699...133,229,052
Ensembl chr  X:133,227,660...133,229,047
JBrowse link
G Dcaf12l1 DDB1 and CUL4 associated factor 12-like 1 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chr  X:131,340,045...131,344,038
Ensembl chr  X:131,340,045...131,343,853
JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Lowe syndrome
ClinVar Annotator: match by term: Oculocerebrorenal Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:309000
OMIM
ClinVar
CTD
PMID:8504307, PMID:9430698, PMID:9632163, PMID:9682219, PMID:10364518, PMID:10767176, PMID:10923037, PMID:11149618, PMID:15108291, PMID:15627218, PMID:16722554, PMID:17142121, PMID:17162149, PMID:17384968, PMID:17765681, PMID:19559295, PMID:19795375, PMID:20301653, PMID:21031565, PMID:21233288, PMID:21666675, PMID:22381590, PMID:23047739, PMID:24081861, PMID:24711037, PMID:25326635, PMID:25480730, PMID:25741868, PMID:26694549, PMID:27625797, PMID:28492532, PMID:28973083 NCBI chr  X:134,742,226...134,793,411
Ensembl chr  X:134,742,356...134,792,618
JBrowse link
G Prr32 proline rich 32 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chr  X:131,617,765...131,619,762
Ensembl chr  X:131,617,798...131,619,728
JBrowse link
G Smarca1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chr  X:134,634,651...134,719,503
Ensembl chr  X:134,647,703...134,719,097
JBrowse link
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a4 solute carrier family 4 member 4 ISO ClinVar Annotator: match by term: Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation
ClinVar Annotator: match by OMIM:604278
OMIM
ClinVar
PMID:10545938, PMID:11274232, PMID:18658147, PMID:20197274, PMID:21234596, PMID:23362273, PMID:25741868, PMID:28492532 NCBI chr14:20,476,258...20,817,042
Ensembl chr14:20,479,323...20,920,286
JBrowse link
pseudohypoaldosteronism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cul3 cullin 3 ISO ClinVar Annotator: match by term: HYPERTENSIVE HYPERKALEMIA, FAMILIAL, UMLS MESH term: Familial Hypertensive Hyperkalemia ClinVar PMID:22266938 NCBI chr 9:86,044,485...86,129,066
Ensembl chr 9:86,044,485...86,129,329
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD 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 Klhl3 kelch-like family member 3 ISO ClinVar Annotator: match by term: HYPERTENSIVE HYPERKALEMIA, FAMILIAL, UMLS MESH term: Familial Hypertensive Hyperkalemia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pseudohypoaldosteronism, type 2
ClinVar
CTD
PMID:22266938, PMID:22406640, PMID:24821705 NCBI chr17:6,924,423...7,029,374
Ensembl chr17:6,935,860...7,029,240
JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16972228 RGD:1600927 NCBI chr19:34,408,275...34,761,003
Ensembl chr19:34,448,289...34,752,695
JBrowse link
G Rad52 RAD52 homolog, DNA repair protein ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, type 2 ClinVar NCBI chr 4:152,429,826...152,451,875
Ensembl chr 4:152,430,187...152,451,609
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO PHA type I,OMIM:264350;DNA:frameshift, DNA:point mutation:exon:R508X
CTD Direct Evidence: marker/mechanism
CTD PMID:11752024, PMID:8589714 RGD:1624117 NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO PHA type I,OMIM:264350;DNA:point mutation:exon:G37S
CTD Direct Evidence: marker/mechanism
CTD PMID:8589714 RGD:1624117 NCBI chr 1:191,829,547...191,883,991
Ensembl chr 1:191,829,555...191,884,298
JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO PHA type I,OMIM:264350;DNA:splice-site mutation:318-1G>A
CTD Direct Evidence: marker/mechanism
CTD PMID:8640238, PMID:8640238 RGD:1624147 NCBI chr 1:191,704,397...191,738,271
Ensembl chr 1:191,704,311...191,738,268
JBrowse link
G Stk39 serine threonine kinase 39 ISS MouseDO NCBI chr 3:54,359,449...54,625,702
Ensembl chr 3:54,359,451...54,625,414
JBrowse link
G Stx16 syntaxin 16 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:172,154,739...172,183,699
Ensembl chr 3:172,154,754...172,183,732
JBrowse link
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, type 2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22949526, PMID:28492532, PMID:11498583, PMID:18547946 RGD:1580828, RGD:2298790 NCBI chr 4:152,452,211...152,578,469
Ensembl chr 4:152,452,848...152,578,446
JBrowse link
G Wnk4 WNK lysine deficient protein kinase 4 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism, type 2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22949526, PMID:18547946, PMID:11498583 RGD:2298790, RGD:1580828 NCBI chr10:89,181,139...89,198,213
Ensembl chr10:89,181,165...89,198,213
JBrowse link
Pseudohypoaldosteronism, Type IIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cul3 cullin 3 ISO ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome ClinVar PMID:22266938 NCBI chr 9:86,044,485...86,129,066
Ensembl chr 9:86,044,485...86,129,329
JBrowse link
G Klhl3 kelch-like family member 3 ISO ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome ClinVar PMID:22266938, PMID:22406640, PMID:24821705 NCBI chr17:6,924,423...7,029,374
Ensembl chr17:6,935,860...7,029,240
JBrowse link
G Rad52 RAD52 homolog, DNA repair protein ISO ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome ClinVar NCBI chr 4:152,429,826...152,451,875
Ensembl chr 4:152,430,187...152,451,609
JBrowse link
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome ClinVar PMID:28492532 NCBI chr 4:152,452,211...152,578,469
Ensembl chr 4:152,452,848...152,578,446
JBrowse link
G Wnk4 WNK lysine deficient protein kinase 4 ISO ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome ClinVar NCBI chr10:89,181,139...89,198,213
Ensembl chr10:89,181,165...89,198,213
JBrowse link
Pseudohypoaldosteronism, Type IIB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnk4 WNK lysine deficient protein kinase 4 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2B OMIM
ClinVar
PMID:718348, PMID:9171836, PMID:11498583, PMID:12107233, PMID:15110905, PMID:15292344, PMID:18547946, PMID:21236712, PMID:25741868, PMID:28492532 NCBI chr10:89,181,139...89,198,213
Ensembl chr10:89,181,165...89,198,213
JBrowse link
Pseudohypoaldosteronism, Type IIC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rad52 RAD52 homolog, DNA repair protein ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2C ClinVar NCBI chr 4:152,429,826...152,451,875
Ensembl chr 4:152,430,187...152,451,609
JBrowse link
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2C
ClinVar Annotator: match by OMIM:614492
OMIM
ClinVar
PMID:10869238, PMID:11498583, PMID:17344846, PMID:18580052, PMID:21530900, PMID:22934535, PMID:23149595, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 4:152,452,211...152,578,469
Ensembl chr 4:152,452,848...152,578,446
JBrowse link
Pseudohypoaldosteronism, Type IID term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl3 kelch-like family member 3 ISO ClinVar Annotator: match by term: FAMILIAL HYPERKALEMIC HYPERTENSION
ClinVar Annotator: match by OMIM:614495
OMIM
ClinVar
PMID:22266938, PMID:22406640, PMID:24033266, PMID:24821705, PMID:25741868, PMID:28492532 NCBI chr17:6,924,423...7,029,374
Ensembl chr17:6,935,860...7,029,240
JBrowse link
Pseudohypoaldosteronism, Type IIE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cul3 cullin 3 ISO ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2E OMIM
ClinVar
PMID:22266938, PMID:25741868, PMID:28492532 NCBI chr 9:86,044,485...86,129,066
Ensembl chr 9:86,044,485...86,129,329
JBrowse link
Renal Aminoacidurias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cltrn collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: Aminoaciduria ClinVar NCBI chr  X:32,118,082...32,153,687
Ensembl chr  X:32,118,054...32,153,794
JBrowse link
renal glycosuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpf heterogeneous nuclear ribonucleoprotein F ISS OMIM:233100 MouseDO NCBI chr 4:149,957,143...149,978,896
Ensembl chr 4:149,957,206...149,978,895
JBrowse link
G Rusf1 RUS family member 1 ISO ClinVar Annotator: match by term: Glycosuria, Renal ClinVar PMID:14569097, PMID:14614622, PMID:15110322, PMID:18622023, PMID:28492532 NCBI chr 1:199,687,775...199,716,205
Ensembl chr 1:199,687,778...199,716,205
JBrowse link
G Slc5a2 solute carrier family 5 member 2 ISO DNA:frameshift mutation, missense mutation:cds:p.Q167fsX186, p.N654S (human)
ClinVar Annotator: match by term: Glycosuria, Renal
ClinVar Annotator: match by OMIM:233100
DNA:nonsense mutation:cds:p.W440X (human)
ClinVar
OMIM
PMID:12436245, PMID:14569097, PMID:14614622, PMID:15110322, PMID:18622023, PMID:21165652, PMID:25741868, PMID:26376857, PMID:28492532, PMID:14614622, PMID:12436245 RGD:1599049, RGD:737731 NCBI chr 1:199,682,688...199,688,809
Ensembl chr 1:199,682,688...199,688,809
JBrowse link
renal hypomagnesemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant ClinVar NCBI chr 1:266,530,421...266,651,292
Ensembl chr 1:266,530,477...266,649,398
JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO DNA:missense mutation:cds:p.G41R (human)
ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant
ClinVar Annotator: match by OMIM:154020
ClinVar
OMIM
PMID:3298795, PMID:11929868, PMID:25765846, PMID:28492532, PMID:11062458 RGD:1598986 NCBI chr 8:49,710,334...49,717,492
Ensembl chr 8:49,710,477...49,716,955
JBrowse link
renal hypomagnesemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar NCBI chr 5:138,300,692...138,307,982
Ensembl chr 5:138,300,107...138,305,683
JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: HYPOMAGNESEMIA, RENAL, NORMOCALCIURIC
ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive
ClinVar Annotator: match by term: Hypomagnesemia 4, renal
OMIM
ClinVar
PMID:16788380, PMID:17671655, PMID:18349392, PMID:21673069, PMID:22992668, PMID:23959273, PMID:27897268, PMID:28492532 NCBI chr 2:68,820,616...68,895,537 JBrowse link
renal hypomagnesemia 5 with ocular involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn16 claudin 16 ISO ClinVar Annotator: match by term: Hypomagnesemia 5, renal, with ocular involvement ClinVar NCBI chr11:77,683,942...77,703,232
Ensembl chr11:77,681,794...77,703,255
JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive
ClinVar Annotator: match by term: Hypomagnesemia 5, renal, with ocular involvement
ClinVar Annotator: match by OMIM:248190
OMIM
ClinVar
PMID:17033971, PMID:18188451, PMID:22422540, PMID:27530400, PMID:28492532 NCBI chr 5:138,300,692...138,307,982
Ensembl chr 5:138,300,107...138,305,683
JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar NCBI chr 2:68,820,616...68,895,537 JBrowse link
renal hypomagnesemia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Hypomagnesemia 6, renal
ClinVar Annotator: match by OMIM:613882
OMIM
ClinVar
PMID:21397062, PMID:28492532, PMID:30311386 NCBI chr 1:266,530,421...266,651,292
Ensembl chr 1:266,530,477...266,649,398
JBrowse link
Renal Hypouricemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc22a12 solute carrier family 22 member 12 ISO ClinVar Annotator: match by term: Hereditary renal hypouricemia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:14655203, PMID:14694169, PMID:15327384, PMID:15741204, PMID:15912381, PMID:16703794, PMID:17362586, PMID:18492088, PMID:19019168, PMID:22045201, PMID:22132990, PMID:22194875, PMID:24033266, PMID:29659532 NCBI chr 1:221,910,787...221,919,277
Ensembl chr 1:221,910,767...221,919,301
JBrowse link
G Slc2a9 solute carrier family 2 member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18989453, PMID:22132990 NCBI chr14:77,067,537...77,192,702
Ensembl chr14:77,067,503...77,192,702
JBrowse link
Renal Hypouricemia, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc2a9 solute carrier family 2 member 9 ISO ClinVar Annotator: match by term: Renal hypouricemia 2
ClinVar Annotator: match by OMIM:612076
ClinVar Annotator: match by synonym: UAQTL2
OMIM
ClinVar
PMID:18327256, PMID:18327257, PMID:18701466, PMID:19026395, PMID:19189137, PMID:19926891, PMID:21256783, PMID:21810765, PMID:22132964, PMID:24397858, PMID:24940677, PMID:25741868, PMID:25966807, PMID:26500098, PMID:27116386, PMID:28492532 NCBI chr14:77,067,537...77,192,702
Ensembl chr14:77,067,503...77,192,702
JBrowse link
renal tubular acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a4 ATPase H+ transporting V0 subunit a4 susceptibility ISO
ISS
OMIM:179830 | OMIM:267200 | OMIM:602722 MouseDO PMID:10973252 RGD:1599383 NCBI chr 4:65,736,585...65,821,916
Ensembl chr 4:65,736,585...65,818,521
JBrowse link
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 susceptibility ISO RGD PMID:9916796 RGD:1599372 NCBI chr 4:115,417,100...115,435,754
Ensembl chr 4:115,416,580...115,437,206
JBrowse link
G Ctsb cathepsin B IEP protein:decreased activity:renal proximal tubule (rat) RGD PMID:7873730 RGD:2315534 NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 IEP mRNA:increased expression:adrenal gland (rat) RGD PMID:16495212 RGD:4891416 NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO
IEP
DNA:mutations:multiple (human)
mRNA,protein:increased expression:kidney:
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.A858D (human)
CTD PMID:9312167, PMID:23460825, PMID:22919024, PMID:10600930, PMID:22126643 RGD:10450480, RGD:13208945, RGD:10450481 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Slc4a4 solute carrier family 4 member 4 susceptibility ISO DNA:point mutations: ; 1043A>C, 1678G>A
CTD Direct Evidence: marker/mechanism
CTD PMID:18614622, PMID:10545938 RGD:61794 NCBI chr14:20,476,258...20,817,042
Ensembl chr14:20,479,323...20,920,286
JBrowse link
Renal Tubular Acidosis, Distal, with Normal Red Cell Morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by null ClinVar PMID:15211439 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
Sensorineural Deafness with Mild Renal Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction
ClinVar PMID:19646679, PMID:21541222, PMID:25741868, PMID:28492532 NCBI chr 5:126,071,849...126,080,647
Ensembl chr 5:126,071,846...126,080,698
JBrowse link
Vitamin D Hydroxylation-Deficient Rickets, Type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Vitamin D-dependent rickets type 1A
ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A
ClinVar Annotator: match by OMIM:264700
OMIM
ClinVar
PMID:9415400, PMID:9486994, PMID:9837822, PMID:10518789, PMID:10566658, PMID:11737215, PMID:12050193, PMID:21700898, PMID:22190362, PMID:22443290, PMID:23423976, PMID:23444327, PMID:23483640, PMID:25284246, PMID:25741868, PMID:28492532 NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
JBrowse link
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 ISO ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 ClinVar PMID:8201479, PMID:10969262, PMID:15128933, PMID:16549493, PMID:24033266, PMID:25942481, PMID:28548312 NCBI chr 1:184,060,521...184,106,604
Ensembl chr 1:184,093,920...184,106,200
JBrowse link
Vitamin D Hydroxylation-Deficient Rickets, Type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 ISO ClinVar Annotator: match by term: Vitamin d hydroxylation-deficient rickets, type 1b OMIM
ClinVar
PMID:8201479, PMID:10969262, PMID:15128933, PMID:16549493, PMID:22855339, PMID:24033266, PMID:25942481, PMID:28548312 NCBI chr 1:184,060,521...184,106,604
Ensembl chr 1:184,093,920...184,106,200
JBrowse link
Vitamin D-Dependent Rickets, Type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vdr vitamin D receptor treatment ISO ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL
DNA:missense mutations:cds:
DNA:missense mutation:cds:P.K45E(human)
DNA:missense mutations,nonsense mutation:exon,splice junction:
ClinVar Annotator: match by OMIM:277440
OMIM
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, PMID:24693968, PMID:24859502, PMID:25201466, PMID:24246681, PMID:9275211 RGD:13432060, RGD:13210792, RGD:13210780, RGD:13210778, RGD:8158074 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
X-linked dominant hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bglap bone gamma-carboxyglutamate protein ISO mRNA:increased expression:long bone RGD PMID:22573557 RGD:7207229 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO mRNA:increased expression:long bone, osteoblast, osteocyte (mouse) RGD PMID:24710520 RGD:11560488 NCBI chr12:17,913,771...17,972,733
Ensembl chr12:17,913,767...17,972,737
JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets
ClinVar Annotator: match by term: Hypophosphatemic Rickets, X-Linked Dominant
DNA:mutation:exon:p.K496X(mouse)
DNA:deletions:3'UTR,promoter,exons:
DNA:mutations:cds,splice junction:
DNA:deletion,mutations:exon,splice junction:
ClinVar Annotator: match by OMIM:307800
OMIM
ClinVar
PMID:188828, PMID:3394683, PMID:7550339, PMID:9097956, PMID:9106524, PMID:9199930, PMID:9768646, PMID:9768674, PMID:10439971, PMID:10737991, PMID:11004247, PMID:11468271, PMID:11502821, PMID:11502829, PMID:12727977, PMID:14564066, PMID:14564077, PMID:16055933, PMID:16303832, PMID:16636593, PMID:18162710, PMID:18252791, PMID:18625346, PMID:19219621, PMID:21050253, PMID:21902834, PMID:21994957, PMID:22261628, PMID:22695891, PMID:23079138, PMID:23466123, PMID:24033266, PMID:24684036, PMID:24756041, PMID:24857004, PMID:24926462, PMID:25525159, PMID:25741868, PMID:25839938, PMID:26040324, PMID:26051471, PMID:26377240, PMID:26467025, PMID:27840894, PMID:28492532, PMID:28506344, PMID:29393334, PMID:29460029, PMID:29505567, PMID:29858904, PMID:30298486, PMID:30607568, PMID:30682568, PMID:30920082, PMID:22573557, PMID:9063736, PMID:9106524, PMID:7550339 RGD:7207229, RGD:11556248, RGD:11556247, RGD:11556246 NCBI chr  X:40,460,047...40,717,982
Ensembl chr  X:40,460,047...40,717,982
JBrowse link
X-linked nephrolithiasis type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: X-linked recessive nephrolithiasis with renal failure
ClinVar Annotator: match by term: Nephrolithiasis, X-linked recessive
OMIM
ClinVar
PMID:8559248, PMID:9602200, PMID:25741868 NCBI chr  X:16,170,585...16,196,691
Ensembl chr  X:16,050,780...16,196,789
JBrowse link
X-linked recessive 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 ClinVar Annotator: match by term: X-linked recessive hypophosphatemic rickets
ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive
ClinVar
OMIM
PMID:7915957, PMID:8559248, PMID:9187673, PMID:9734595, PMID:15086899, PMID:16822791, PMID:19546591, PMID:24081861, PMID:25741868 NCBI chr  X:16,170,585...16,196,691
Ensembl chr  X:16,050,780...16,196,789
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    Nutritional and Metabolic Diseases 4713
      disease of metabolism 4713
        inherited metabolic disorder 2222
          renal tubular transport disease 93
            Bartter disease + 8
            Dent disease + 6
            Donnai-Barrow syndrome 2
            Familial Azotemia 0
            Familial Hypophosphatemia + 13
            Familial Renal Hypouricemia due to Tubular Hypersecretion 2
            Fanconi syndrome + 9
            Gitelman syndrome 4
            Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial 0
            Hypomagnesemia, Seizures, and Mental Retardation + 2
            Hypouricemia, Hypercalcinuria, and Decreased Bone Density 0
            Iminoglycinuria 3
            Liddle syndrome + 4
            Renal Aminoacidurias + 14
            Renal Hypouricemia 2
            Renal Hypouricemia, 2 1
            X-linked nephrolithiasis type I 1
            hypophosphatemic nephrolithiasis/osteoporosis 2 1
            oculocerebrorenal syndrome + 8
            pseudohypoaldosteronism + 14
            renal glycosuria + 4
            renal hypomagnesemia 2 2
            renal hypomagnesemia 4 2
            renal hypomagnesemia 5 with ocular involvement 3
            renal hypomagnesemia 6 1
            renal tubular acidosis + 9
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      Urogenital Diseases 4143
        urinary system disease 2066
          kidney disease 1854
            renal tubular transport disease 93
              Bartter disease + 8
              Dent disease + 6
              Donnai-Barrow syndrome 2
              Familial Azotemia 0
              Familial Hypophosphatemia + 13
              Familial Renal Hypouricemia due to Tubular Hypersecretion 2
              Fanconi syndrome + 9
              Gitelman syndrome 4
              Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial 0
              Hypomagnesemia, Seizures, and Mental Retardation + 2
              Hypouricemia, Hypercalcinuria, and Decreased Bone Density 0
              Iminoglycinuria 3
              Liddle syndrome + 4
              Renal Aminoacidurias + 14
              Renal Hypouricemia 2
              Renal Hypouricemia, 2 1
              X-linked nephrolithiasis type I 1
              hypophosphatemic nephrolithiasis/osteoporosis 2 1
              oculocerebrorenal syndrome + 8
              pseudohypoaldosteronism + 14
              renal glycosuria + 4
              renal hypomagnesemia 2 2
              renal hypomagnesemia 4 2
              renal hypomagnesemia 5 with ocular involvement 3
              renal hypomagnesemia 6 1
              renal tubular acidosis + 9
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.