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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:Skin Manifestations
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Accession:DOID:9007472 term browser browse the term
Definition:Dermatologic disorders attendant upon non-dermatologic disease or injury.
Synonyms:exact_synonym: Skin Manifestation
 primary_id: MESH:D012877;   RDO:0005428
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Skin Manifestations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD59 CD59 molecule (CD59 blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:31618666 NCBI chr11:33,703,010...33,736,479
Ensembl chr11:33,703,010...33,736,491
Ensembl chr11:33,703,010...33,736,491
JBrowse link
autoimmune thrombocytopenic purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19260037 NCBI chr 9:133,414,337...133,459,403
Ensembl chr 9:133,414,358...133,459,402
JBrowse link
G ALB albumin IEP RGD PMID:6683982 RGD:11036083 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G CD40 CD40 molecule IEP protein:increased expression:peripheral blood, B lymphocyte (human) RGD PMID:17654056 RGD:11344977 NCBI chr20:46,118,242...46,129,858
Ensembl chr20:46,118,278...46,129,863
JBrowse link
G CD40LG CD40 ligand treatment IEP
ISO
IMP
IDA
protein:increased expression:peripheral blood, T lymphocyte (human)
protein:decreased expression:serum (mouse)
RGD PMID:17654056, PMID:22537155, PMID:18341638, PMID:16188945 RGD:11344977, RGD:11352267, RGD:11352237, RGD:11344980 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CD86 CD86 molecule treatment IEP
IDA
protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:19379594, PMID:20581660 RGD:11354966, RGD:11520785 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IEP mRNA:decreased expression:mononuclear cell RGD PMID:18683034 RGD:9588662 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
JBrowse link
G DNMT3B DNA methyltransferase 3 beta susceptibility IEP
IAGP
mRNA:decreased expression:mononuclear cell
DNA:SNP:promoter: -579G>T(human)
RGD PMID:18683034, PMID:23000068 RGD:9588662, RGD:9589094 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,356
JBrowse link
G FAS Fas cell surface death receptor IEP protein:increased expression:serum: RGD PMID:10776692 RGD:11049162 NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059
JBrowse link
G FCGR2A Fc fragment of IgG receptor IIa no_association
susceptibility
treatment
ISO
IAGP
IEP
DNA:SNP:cds:p.R131H (human) RGD PMID:20699442, PMID:23249566, PMID:22123287, PMID:21131591 RGD:11040883, RGD:11040990, RGD:11040989, RGD:11040933 NCBI chr 1:161,505,430...161,524,048
Ensembl chr 1:161,505,430...161,524,013
JBrowse link
G FCGR2B Fc fragment of IgG receptor IIb treatment
disease_progression
IDA
ISO
IAGP
DNA:SNP: :p.I232T (human) RGD PMID:21131591, PMID:21045192, PMID:22257295, PMID:15566359, PMID:19549396 RGD:11040933, RGD:11344955, RGD:11344931, RGD:11344928, RGD:11344927 NCBI chr 1:161,647,243...161,678,654
Ensembl chr 1:161,663,147...161,678,654
JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa treatment
susceptibility
IAGP
ISO
DNA:SNP:cds:p.V158F(human)
DNA:SNP:exon:p.F158V (rs396991) (human)
RGD PMID:11380443, PMID:23484707, PMID:22123287, PMID:15479722 RGD:11040776, RGD:11352255, RGD:11040989, RGD:11344926 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,737
JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha ISO RGD PMID:16861348 RGD:10450841 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 treatment IAGP DNA:polymorphisms:cds:HLA-DQB1*0401 (human) RGD PMID:10435723 RGD:11041758 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 treatment IAGP DNA:polymorphisms:cds:HLA-DRB1*0901, HLA-DRB1*0410 (human) RGD PMID:10435723 RGD:11041758 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,578,769...32,589,848
JBrowse link
G IL10 interleukin 10 disease_progression IAGP DNA:SNP:promoter:-627C>A (human)
DNA:SNPs, haplotypes:promoter:-1082A>G, -819C>T, -592C>A (human)
RGD PMID:25051072, PMID:22677268 RGD:11041894, RGD:11046267 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL18 interleukin 18 IEP protein:increased expression:plasma: RGD PMID:24801815 RGD:11073600 NCBI chr11:112,143,251...112,164,104
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL1A interleukin 1 alpha IAGP DNA:SNP:promoter:-899C>T (human) RGD PMID:21591983 RGD:11051966 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
JBrowse link
G IL1RN interleukin 1 receptor antagonist susceptibility IAGP DNA:repeats:: RGD PMID:20626741 RGD:11528541 NCBI chr 2:113,099,365...113,134,016
Ensembl chr 2:113,107,214...113,134,016
JBrowse link
G IL2 interleukin 2 susceptibility IAGP DNA:polymorphism::-330T>G(human) RGD PMID:20626741 RGD:11528541 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G IL4 interleukin 4 disease_progression IAGP DNA:repeat:intron RGD PMID:25051072 RGD:11041894 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G ITGB3 integrin subunit beta 3 IDA
ISO
RGD PMID:10936026, PMID:24258817 RGD:10755473, RGD:10755475 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,846...47,313,735
Ensembl chr17:47,253,846...47,313,735
Ensembl chr17:47,253,846...47,313,735
JBrowse link
G MIR130A microRNA 130a IEP RNA:decreased expression:PBMC RGD PMID:24801815 RGD:11073600 NCBI chr11:57,641,198...57,641,286
Ensembl chr11:57,641,198...57,641,286
JBrowse link
G MIR409 microRNA 409 treatment IEP RGD PMID:23360331 RGD:10755694 NCBI chr14:101,065,300...101,065,378
Ensembl chr14:101,065,300...101,065,378
JBrowse link
G PLAT plasminogen activator, tissue type IEP protein:increased expression:plasma (human) RGD PMID:2129164 RGD:11541072 NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,676
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 no_association IAGP DNA: snp: cds: C1858T
DNA:snp:cds:c.1858C>T (rs2476601) (human)
RGD PMID:21597364, PMID:27309885 RGD:6484673, RGD:11535019 NCBI chr 1:113,813,811...113,871,761
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 IAGP ClinVar Annotator: match by term: Autoimmune thrombocytopenia ClinVar NCBI chr16:11,254,417...11,256,182
Ensembl chr16:11,254,408...11,256,204
Ensembl chr16:11,254,408...11,256,204
JBrowse link
G TGFB1 transforming growth factor beta 1 disease_progression IEP mRNA:increased expression: :
protein:decreased expression:plasma:
RGD PMID:11886393, PMID:24763013, PMID:24801815 RGD:11073598, RGD:11073603, RGD:11073600 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
Cafe au lait Spots, Multiple term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Multiple cafe-au-lait spots ClinVar PMID:30311386 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G MSH2 mutS homolog 2 IAGP ClinVar Annotator: match by term: Multiple cafe-au-lait spots ClinVar PMID:21056691, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 2:47,403,067...47,634,501
Ensembl chr 2:47,403,067...47,663,146
Ensembl chr 2:47,403,067...47,663,146
JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Multiple cafe-au-lait spots ClinVar PMID:1568247, PMID:7581973, PMID:7981679, PMID:8264648, PMID:8664912, PMID:8834249, PMID:8837715, PMID:9003501, PMID:9150739, PMID:9180088, PMID:9475595, PMID:9783703, PMID:10543400, PMID:10607834, PMID:10678181, PMID:10712197, PMID:10726756, PMID:10862084, PMID:11258625, PMID:11857752, PMID:12566521, PMID:12807981, PMID:14517963, PMID:14722917, PMID:15060124, PMID:15146469, PMID:15846561, PMID:15863657, PMID:16199547, PMID:16380919, PMID:16479075, PMID:16513807, PMID:16544997, PMID:16786508, PMID:16835897, PMID:16941471, PMID:16944272, PMID:17209131, PMID:17311297, PMID:17406642, PMID:17551851, PMID:17914445, PMID:17960768, PMID:18484666, PMID:18546366, PMID:19076627, PMID:19142971, PMID:19738042, PMID:19845691, PMID:21278392, PMID:21354044, PMID:21520333, PMID:21838856, PMID:22108604, PMID:22155606, PMID:22190595, PMID:22807134, PMID:23010473, PMID:23244495, PMID:23404336, PMID:23460398, PMID:23583981, PMID:23656349, PMID:23668869, PMID:23758643, PMID:23913538, PMID:24033266, PMID:24232412, PMID:24789688, PMID:25240281, PMID:25324867, PMID:25325900, PMID:25403449, PMID:25525159, PMID:25541118, PMID:25741868, PMID:25788518, PMID:26056819, PMID:26467025, PMID:26478990, PMID:26514327, PMID:26969325, PMID:27069254, PMID:27074763, PMID:27322474, PMID:27716896, PMID:27838393, PMID:28008555, PMID:28068329, PMID:28492532, PMID:29290338, PMID:29415745, PMID:29483232, PMID:29872168, PMID:29914388, PMID:30291346, PMID:30308447, PMID:30311386, PMID:30530636, PMID:31533797, PMID:31595648, PMID:31717729, PMID:32126153, PMID:32581362 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP ClinVar Annotator: match by term: Multiple cafe-au-lait spots ClinVar PMID:30311386 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Cafe au lait spots, multiple ClinVar NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,981,549...39,124,345
Ensembl chr 2:38,981,549...39,124,345
JBrowse link
G TMEM67 transmembrane protein 67 IAGP ClinVar Annotator: match by term: Multiple cafe-au-lait spots ClinVar PMID:30311386 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
JBrowse link
Cafe-au-Lait Spots term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFF2 AF4/FMR2 family member 2 IAGP ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:30311386 NCBI chr  X:148,500,617...149,000,663
Ensembl chr  X:148,500,617...149,000,663
JBrowse link
G ALDOB aldolase, fructose-bisphosphate B IAGP ClinVar Annotator: match by term: Cafe-au-lait spots ClinVar PMID:1856829, PMID:2336380, PMID:8541450, PMID:11757579, PMID:12205126, PMID:12417303, PMID:15880727, PMID:18541450, PMID:19768653, PMID:20033295, PMID:20882353, PMID:23430936, PMID:28492532, PMID:30311386 NCBI chr 9:101,420,560...101,435,774
Ensembl chr 9:101,420,560...101,449,664
JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP ClinVar Annotator: match by term: Cafe-au-lait spots ClinVar PMID:2842249, PMID:8496742, PMID:11020638, PMID:15260953, PMID:16632466, PMID:19652145, PMID:22534615, PMID:22842232, PMID:22850527, PMID:22924536, PMID:22933743, PMID:23409136, PMID:23483595, PMID:24088041, PMID:24100174, PMID:24123283, PMID:24431296, PMID:24436111, PMID:24468074, PMID:24631656, PMID:24739246, PMID:24842602, PMID:24996492, PMID:25359261, PMID:25523819, PMID:25656163, PMID:25681536, PMID:25741868, PMID:25895915, PMID:25996915, PMID:26297560, PMID:26400718, PMID:26410222, PMID:26633545, PMID:27091223, PMID:28293679, PMID:28492532, PMID:29184165, PMID:30311386, PMID:32581362 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
JBrowse link
G CC2D1A coiled-coil and C2 domain containing 1A IAGP ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:30311386 NCBI chr19:13,906,149...13,930,879
Ensembl chr19:13,906,201...13,930,879
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:30311386 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G ELN elastin IAGP ClinVar Annotator: match by term: Cafe-au-lait spots ClinVar PMID:30311386 NCBI chr 7:74,027,772...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G ETHE1 ETHE1 persulfide dioxygenase IAGP ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:28933811, PMID:30311386 NCBI chr19:43,506,719...43,527,201
Ensembl chr19:43,506,719...43,527,230
JBrowse link
G GNAS GNAS complex locus EXP CTD Direct Evidence: marker/mechanism CTD PMID:1594625, PMID:1944469 NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G LAMB1 laminin subunit beta 1 IAGP ClinVar Annotator: match by term: Cafe-au-lait spots ClinVar PMID:30311386 NCBI chr 7:107,923,799...108,003,176
Ensembl chr 7:107,923,799...108,003,187
JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Cafe-au-lait spot
ClinVar Annotator: match by term: Cafe-au-lait spots
ClinVar PMID:9463322, PMID:10607834, PMID:10712197, PMID:10862084, PMID:10874316, PMID:12807981, PMID:16786508, PMID:16835897, PMID:16944272, PMID:21520333, PMID:23404336, PMID:23668869, PMID:23913538, PMID:25324867, PMID:25325900, PMID:25741868, PMID:26908603, PMID:26973730, PMID:27171602, PMID:27482814, PMID:28492532, PMID:30311386 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G NOTCH3 notch receptor 3 IAGP ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:30311386 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component EXP CTD Direct Evidence: marker/mechanism CTD PMID:15077197 NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,106
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:1258892, PMID:1543375, PMID:4025385, PMID:4386970, PMID:8530013, PMID:9222968, PMID:11704759, PMID:12960218, PMID:15121796, PMID:15928039, PMID:16369799, PMID:16523510, PMID:17056636, PMID:17222357, PMID:17339163, PMID:17875892, PMID:18241070, PMID:19206169, PMID:19467855, PMID:21396583, PMID:21500339, PMID:21533187, PMID:22190897, PMID:24033266, PMID:24891296, PMID:24935154, PMID:25741868, PMID:26249544, PMID:26297936, PMID:27521173, PMID:27562378, PMID:27619028, PMID:28492532, PMID:30311386 NCBI chr12:112,418,915...112,509,918
Ensembl chr12:112,418,351...112,509,913
Ensembl chr12:112,418,351...112,509,913
JBrowse link
G SIK1 salt inducible kinase 1 IAGP ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:30311386 NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131
JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17704776 NCBI chr15:38,252,087...38,357,249
Ensembl chr15:38,252,836...38,357,249
JBrowse link
G TEK TEK receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:30311386 NCBI chr 9:27,109,141...27,230,178
Ensembl chr 9:27,109,141...27,230,174
JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: Cafe-au-lait spot
ClinVar Annotator: match by term: Cafe-au-lait spots
ClinVar PMID:28492532, PMID:30311386 NCBI chr16:2,047,804...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
Drug-Induced Immune Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC2 ATP binding cassette subfamily C member 2 susceptibility IAGP associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP, haplotype:promoter,cds: 3972C>T, -24C>T(human) RGD PMID:20943283 RGD:11080978 NCBI chr10:99,782,602...99,853,741
Ensembl chr10:99,782,640...99,852,594
JBrowse link
G DPYD dihydropyrimidine dehydrogenase treatment IAGP
IEP
associated with Neoplasms;DNA:SNP:intron:IVS14+1G>A (human)
associated with Stomach Neoplasms
RGD PMID:19473056, PMID:23064955 RGD:11098817, RGD:11251740 NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility
treatment
IAGP
IGI
associated with Ovarian Neoplasms;DNA:deletion: : (human)
associated with diffuse large B-cell lymphoma; DNA:deletion:cds:
RGD PMID:19786980, PMID:20303013 RGD:5688741, RGD:10450835 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTT1 glutathione S-transferase theta 1 treatment IGI associated with diffuse large B-cell lymphoma; DNA:deletion:cds: RGD PMID:20303013 RGD:10450835
G IL1A interleukin 1 alpha treatment IEP
IDA
associated with Carcinoma, Non-Small-Cell Lung
associated with Ovarian Neoplasms
RGD PMID:7666093, PMID:8151314 RGD:11051963, RGD:11051964 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
JBrowse link
G IL1B interleukin 1 beta treatment IDA associated with Glioblastoma; RGD PMID:1331350 RGD:10450883 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 severity IDA
ISO
RGD PMID:10942385, PMID:17234740 RGD:11541093, RGD:11541120 NCBI chr17:64,319,415...64,413,844
Ensembl chr17:64,319,415...64,413,776
JBrowse link
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLE DNA polymerase epsilon, catalytic subunit IAGP ClinVar Annotator: match by term: Facial dysmorphism, immunodeficiency, livedo, and short stature ClinVar
OMIM
PMID:21157497, PMID:23230001, PMID:23263490, PMID:23447401, PMID:23636398, PMID:24033266, PMID:25079317, PMID:25529843, PMID:25559809, PMID:25642631, PMID:25741868, PMID:25860647, PMID:25948378, PMID:26467025, PMID:26822575, PMID:28492532, PMID:29120461, PMID:29987844, PMID:30049826, PMID:30194485 NCBI chr12:132,623,758...132,687,519
Ensembl chr12:132,623,753...132,687,376
JBrowse link
Familial Thoracic Aortic Aneurysm 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
ClinVar
OMIM
PMID:10532176, PMID:13129918, PMID:14730227, PMID:15138499, PMID:15472996, PMID:17994018, PMID:19409525, PMID:19639654, PMID:20689142, PMID:20734336, PMID:20970362, PMID:21212136, PMID:21248741, PMID:21288906, PMID:21733706, PMID:21937134, PMID:22302747, PMID:22543189, PMID:22752479, PMID:22790431, PMID:22831780, PMID:22946110, PMID:23099432, PMID:23253043, PMID:23613326, PMID:24020716, PMID:24033266, PMID:24243736, PMID:24293535, PMID:24621862, PMID:24793577, PMID:24998021, PMID:25326635, PMID:25644172, PMID:25741868, PMID:25759435, PMID:25944730, PMID:26034244, PMID:26153420, PMID:26188975, PMID:26637293, PMID:27176728, PMID:27481187, PMID:27549731, PMID:27551047, PMID:27567161, PMID:27611364, PMID:28492532, PMID:28659821, PMID:28855619, PMID:29300374, PMID:29687370, PMID:29907982, PMID:30311386 NCBI chr10:88,935,074...88,991,397
Ensembl chr10:88,935,074...88,991,339
JBrowse link
G ACTA2-AS1 ACTA2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
ClinVar PMID:17994018, PMID:19409525, PMID:19639654, PMID:21248741, PMID:23099432, PMID:24033266, PMID:25644172, PMID:25741868, PMID:25759435, PMID:26153420, PMID:26188975, PMID:28492532, PMID:28659821, PMID:28855619, PMID:29687370 NCBI chr10:88,932,684...88,939,974
Ensembl chr10:88,932,390...88,940,820
JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,306...48,645,849
Ensembl chr15:48,408,306...48,645,849
JBrowse link
G MYH11 myosin heavy chain 11 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
ClinVar PMID:25500235, PMID:25637381, PMID:25741868, PMID:28492532 NCBI chr16:15,703,135...15,857,032
Ensembl chr16:15,703,135...15,857,028
JBrowse link
G MYLK myosin light chain kinase IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:24033266, PMID:25637381, PMID:25741868, PMID:28492532 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332
JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25500235, PMID:25637381, PMID:25741868 NCBI chr16:15,643,267...15,726,353
Ensembl chr16:15,643,267...15,734,691
Ensembl chr16:15,643,267...15,734,691
JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868, PMID:28492532 NCBI chr20:46,708,358...46,736,347
Ensembl chr20:46,709,649...46,736,347
JBrowse link
G SMAD3 SMAD family member 3 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 NCBI chr15:67,065,602...67,195,195
Ensembl chr15:67,063,763...67,195,169
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25741868, PMID:27879313, PMID:28492532 NCBI chr 9:99,104,038...99,154,192
Ensembl chr 9:99,104,038...99,154,192
JBrowse link
Henoch-Schoenlein purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme disease_progression IAGP DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15315169 RGD:11038920 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G AGT angiotensinogen severity IAGP DNA:missense mutation:cds:p.M235T (human)
DNA:missense mutation:cds:p.T174M (human)
RGD PMID:16521052, PMID:20702504 RGD:11039045, RGD:11039055 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,702,523...230,714,122
JBrowse link
G C3 complement C3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:1353212 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G CCL2 C-C motif chemokine ligand 2 susceptibility IAGP
IEP
DNA:snp:promoter:g.-2518C>T (human)
protein:increased expression:serum (human)
RGD PMID:26234573, PMID:25839768 RGD:11522500, RGD:11528567 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
JBrowse link
G CD86 CD86 molecule treatment IDA protein:increased expression:venous blood, B cell (human) RGD PMID:27030970 RGD:11354986 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphisms:cds:HLA-DQA1*0301, HLA-DQA1*0302 (human) RGD PMID:11836690 RGD:5147830 NCBI chr 6:32,637,406...32,654,846
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G HMOX1 heme oxygenase 1 IEP protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,207
JBrowse link
G IGF1 insulin like growth factor 1 IEP protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chr12:102,395,860...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IL1RN interleukin 1 receptor antagonist IAGP DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) RGD PMID:9186886 RGD:6909151 NCBI chr 2:113,099,365...113,134,016
Ensembl chr 2:113,107,214...113,134,016
JBrowse link
G IL5 interleukin 5 IEP protein:increased expression:serum RGD PMID:16787590 RGD:11354946 NCBI chr 5:132,539,194...132,556,864
Ensembl chr 5:132,541,445...132,556,838
JBrowse link
G KNG1 kininogen 1 IEP protein:increased expression:serum RGD PMID:26098644 RGD:11059888 NCBI chr 3:186,717,359...186,744,410
Ensembl chr 3:186,717,348...186,744,410
JBrowse link
G MEFV MEFV innate immuity regulator, pyrin susceptibility IAGP DNA:mutations:exons:
DNA:mutations:cds:
DNA:mutation:exon:p. E148Q (human)
RGD PMID:22451026, PMID:25232290, PMID:20602240 RGD:7349346, RGD:11531116, RGD:7349347 NCBI chr16:3,242,027...3,256,776
Ensembl chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G PLAT plasminogen activator, tissue type IEP protein:increased expression:plasma (human) RGD PMID:9543574 RGD:11541055 NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,676
JBrowse link
G PLAU plasminogen activator, urokinase EXP CTD Direct Evidence: therapeutic CTD PMID:9002298, PMID:12671112 NCBI chr10:73,909,182...73,917,497
Ensembl chr10:73,909,177...73,917,496
JBrowse link
G PON1 paraoxonase 1 susceptibility IAGP DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:19967651 RGD:11552576 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link
Heparin-induced Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FCGR2A Fc fragment of IgG receptor IIa IAGP RGD PMID:8772238 RGD:11040889 NCBI chr 1:161,505,430...161,524,048
Ensembl chr 1:161,505,430...161,524,013
JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa susceptibility IAGP DNA:SNP:cds:p.V158F(human) RGD PMID:15191947 RGD:11040991 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,737
JBrowse link
G IL10 interleukin 10 no_association IAGP DNA:repeats, haplotype:promoter
DNA:SNPs:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human)
RGD PMID:22239992, PMID:22239992 RGD:11049164, RGD:11049164 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
hereditary spherocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK1 ankyrin 1 severity IAGP
ISO
ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:deletion mutation:exon:
DNA:deletion:cds:
DNA:mutation: :
DNA:transversion mutation:splice site:1674G>C(mouse)
DNA:transition mutation:intron:
DNA:mutation:exon:p.E924X(mouse)
ClinVar PMID:8640229, PMID:14671619, PMID:9054656, PMID:23390527, PMID:19179303, PMID:23934996, PMID:21193012 RGD:1578350, RGD:11251681, RGD:11251680, RGD:11041609, RGD:11251676, RGD:11251675, RGD:11251674 NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,762
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase EXP CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 2:27,217,369...27,243,943
Ensembl chr 2:27,217,369...27,243,943
JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) EXP CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664
JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 IAGP ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar PMID:1558976 RGD:1598910 NCBI chr15:43,197,227...43,225,856
Ensembl chr15:43,197,227...43,221,018
Ensembl chr15:43,197,227...43,221,018
JBrowse link
G KLF1 Kruppel like factor 1 ISO
ISS
DNA:missense mutation:exon:p.E339D (1065A>T) (human) MouseDO PMID:20691777 RGD:10769342 NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201
JBrowse link
G OR10Z1 olfactory receptor family 10 subfamily Z member 1 IAGP ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar NCBI chr 1:158,605,268...158,612,514
Ensembl chr 1:158,605,268...158,612,514
JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP
EXP
DNA:duplication:cds: (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spherocytosis, Dominant
mRNA:splicing error:intron:IVS8+1G>T (human)
DNA:missense mutations:cds:p.E40K, p.P147S, p.V488M (human)
DNA:missense mutation:cds:p.G771D (human)
CTD
ClinVar
PMID:1378323, PMID:8282779, PMID:9326249, PMID:9207478, PMID:8547122 RGD:1599007, RGD:10450510, RGD:10450506, RGD:10450491 NCBI chr17:44,248,390...44,268,161
Ensembl chr17:44,248,390...44,268,141
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 IAGP
ISO
DNA:polymorphisms:introns,exon:
ClinVar Annotator: match by term: Spherocytosis, Recessive
DNA:deletion:cds:
ClinVar PMID:28492532, PMID:15384986, PMID:11920196 RGD:11059521, RGD:11059522 NCBI chr 1:158,610,498...158,686,715
Ensembl chr 1:158,610,704...158,686,715
JBrowse link
G SPTB spectrin beta, erythrocytic IEP
IAGP
EXP
mRNA:decreased expression:erythrocyte:
ClinVar Annotator: match by term: Spherocytosis, Dominant
ClinVar Annotator: match by term: Hereditary spherocytosis
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds,splice junction:
ClinVar
CTD
PMID:8102379, PMID:19538529, PMID:25741868, PMID:28492532, PMID:19538529, PMID:19538529 RGD:11059526, RGD:11059526 NCBI chr14:64,744,106...64,879,907
Ensembl chr14:64,746,283...64,879,907
JBrowse link
G UMPS uridine monophosphate synthetase EXP CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 3:124,730,442...124,749,273
Ensembl chr 3:124,730,433...124,749,273
JBrowse link
hereditary spherocytosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADD2 adducin 2 ISS OMIM:182900 MouseDO NCBI chr 2:70,656,784...70,768,200
Ensembl chr 2:70,607,618...70,768,225
JBrowse link
G ANK1 ankyrin 1 IAGP ClinVar Annotator: match by term: Spherocytosis type 1
ClinVar Annotator: match by term: SPHEROCYTOSIS, HEREDITARY, 1
ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive
ClinVar
OMIM
PMID:1486040, PMID:7883994, PMID:8640229, PMID:9590147, PMID:11102985, PMID:11167760, PMID:12899723, PMID:15071790, PMID:16037067, PMID:17327413, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,762
JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 ISS OMIM:182900 MouseDO NCBI chr15:43,197,227...43,225,856
Ensembl chr15:43,197,227...43,221,018
Ensembl chr15:43,197,227...43,221,018
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISS OMIM:182900 MouseDO NCBI chr 1:158,610,498...158,686,715
Ensembl chr 1:158,610,704...158,686,715
JBrowse link
hereditary spherocytosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPTB spectrin beta, erythrocytic IAGP ClinVar Annotator: match by term: Spherocytosis type 2
ClinVar Annotator: match by term: Spectrin kissimmee
ClinVar Annotator: match by term: Spectrin s-ta barbara
ClinVar Annotator: match by term: Spectrin durham
ClinVar
OMIM
PMID:1385736, PMID:3654760, PMID:6215583, PMID:7883966, PMID:8102379, PMID:8844207, PMID:9414314, PMID:9714702, PMID:11703334, PMID:19538529, PMID:25741868 NCBI chr14:64,744,106...64,879,907
Ensembl chr14:64,746,283...64,879,907
JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OR10Z1 olfactory receptor family 10 subfamily Z member 1 IAGP ClinVar Annotator: match by term: Spherocytosis type 3 ClinVar NCBI chr 1:158,605,268...158,612,514
Ensembl chr 1:158,605,268...158,612,514
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 IAGP ClinVar Annotator: match by term: Spherocytosis type 3
ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive
ClinVar
OMIM
PMID:1638030, PMID:3785322, PMID:8081008, PMID:8370581, PMID:8941647, PMID:15071791, PMID:21212007, PMID:23241237, PMID:24033266, PMID:25741868, PMID:26002053, PMID:27667160, PMID:28492532, PMID:30311386, PMID:32581362 NCBI chr 1:158,610,498...158,686,715
Ensembl chr 1:158,610,704...158,686,715
JBrowse link
hereditary spherocytosis type 4 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) IAGP ClinVar Annotator: match by term: Spherocytosis type 4 ClinVar
OMIM
PMID:893429, PMID:1378323, PMID:1419785, PMID:1520883, PMID:1678289, PMID:1696010, PMID:2146504, PMID:2196932, PMID:2527366, PMID:7530501, PMID:7812009, PMID:8011524, PMID:8206915, PMID:8282779, PMID:8343110, PMID:8471774, PMID:8547122, PMID:8567957, PMID:8608262, PMID:8704215, PMID:9207478, PMID:9312167, PMID:9734643, PMID:9973643, PMID:10745622, PMID:10942416, PMID:11155072, PMID:11380459, PMID:16227998, PMID:19229254, PMID:21039340, PMID:23255290, PMID:24033266, PMID:25111073, PMID:25296721, PMID:25741868, PMID:26571219, PMID:26879370, PMID:28492532 NCBI chr17:44,248,390...44,268,161
Ensembl chr17:44,248,390...44,268,141
JBrowse link
hereditary spherocytosis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPB42 erythrocyte membrane protein band 4.2 IAGP ClinVar Annotator: match by term: Spherocytosis type 5 ClinVar
OMIM
PMID:1558976, PMID:2386772, PMID:7772513, PMID:7803799, PMID:8319790, PMID:8528207, PMID:10406914, PMID:12176912, PMID:19508687, PMID:25741868, PMID:28492532 NCBI chr15:43,197,227...43,225,856
Ensembl chr15:43,197,227...43,221,018
Ensembl chr15:43,197,227...43,221,018
JBrowse link
Hyperbiliverdinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLVRA biliverdin reductase A IAGP ClinVar Annotator: match by term: Hyperbiliverdinemia ClinVar
OMIM
PMID:19580635, PMID:21278388 NCBI chr 7:43,758,122...43,807,342
Ensembl chr 7:43,758,680...43,807,342
JBrowse link
Jaundice term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC2 ATP binding cassette subfamily C member 2 IAGP ClinVar Annotator: match by term: Icterus ClinVar PMID:30311386 NCBI chr10:99,782,602...99,853,741
Ensembl chr10:99,782,640...99,852,594
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing IEP associated with Biliary Atresia; protein:increased expression:serum RGD PMID:21356120 RGD:5686894 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
JBrowse link
G CCL25 C-C motif chemokine ligand 25 ISO mRNA:decreased expression:ileum RGD PMID:18592157 RGD:5130926 NCBI chr19:8,052,318...8,062,663
Ensembl chr19:8,052,767...8,062,650
JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector 1 IAGP ClinVar Annotator: match by term: Jaundice ClinVar PMID:25407461, PMID:25741868, PMID:26092869, PMID:28125082, PMID:28492532, PMID:30311386 NCBI chr 5:37,063,928...37,249,499
Ensembl chr 5:37,106,228...37,249,421
Ensembl chr 5:37,106,228...37,249,421
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO RGD PMID:8502229 RGD:11576308 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 ISO mRNA:decreased expression:liver RGD PMID:18442205, PMID:8502229 RGD:2303375, RGD:11576308 NCBI chr15:74,748,845...74,756,607
Ensembl chr15:74,748,845...74,756,607
JBrowse link
G FECH ferrochelatase IAGP ClinVar Annotator: match by term: Jaundice ClinVar PMID:1729699, PMID:11753383, PMID:14669009, PMID:16385445, PMID:17875872, PMID:23364466, PMID:24033266, PMID:25741868, PMID:26280465, PMID:28054335, PMID:28093505, PMID:30311386 NCBI chr18:57,544,377...57,586,708
Ensembl chr18:57,544,389...57,586,702
Ensembl chr18:57,544,389...57,586,702
JBrowse link
G HBB hemoglobin subunit beta IAGP DNA:polymorphism:CDS:329C>G, amino acid H92Q RGD PMID:10870887 RGD:1600896 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:lung (rat) RGD PMID:19034056 RGD:4145521 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP ClinVar Annotator: match by term: Icterus ClinVar PMID:30311386 NCBI chr17:44,248,390...44,268,161
Ensembl chr17:44,248,390...44,268,141
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 IAGP ClinVar Annotator: match by term: Icterus ClinVar PMID:30311386 NCBI chr 1:158,610,498...158,686,715
Ensembl chr 1:158,610,704...158,686,715
JBrowse link
G UGT1A1 UDP glucuronosyltransferase family 1 member A1 treatment IMP RGD PMID:19585550 RGD:13432069 NCBI chr 2:233,760,270...233,773,300
Ensembl chr 2:233,760,270...233,773,300
Ensembl chr 2:233,760,270...233,773,300
JBrowse link
Legius Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM98B family with sequence similarity 98 member B IAGP ClinVar Annotator: match by term: Legius syndrome ClinVar PMID:21548021, PMID:22753041, PMID:28492532 NCBI chr15:38,454,127...38,487,710
Ensembl chr15:38,454,127...38,487,710
JBrowse link
G LINC02694 long intergenic non-protein coding RNA 2694 IAGP ClinVar Annotator: match by term: Legius syndrome ClinVar PMID:21548021, PMID:22753041, PMID:28492532 NCBI chr15:38,696,598...38,700,038
Ensembl chr15:38,628,005...39,180,499
JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 IAGP ClinVar Annotator: match by term: Legius syndrome ClinVar PMID:21548021, PMID:22753041, PMID:28492532 NCBI chr15:38,488,097...38,564,814
Ensembl chr15:38,488,103...38,565,575
JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 IAGP ClinVar Annotator: match by term: Legius syndrome ClinVar
OMIM
PMID:3128965, PMID:11493923, PMID:15683364, PMID:17704776, PMID:19366998, PMID:19443465, PMID:19920235, PMID:20179001, PMID:20339110, PMID:21089071, PMID:21495177, PMID:21548021, PMID:21649642, PMID:22751498, PMID:22753041, PMID:24033266, PMID:24334617, PMID:24469042, PMID:25074460, PMID:25741868, PMID:25883013, PMID:25981987, PMID:26214305, PMID:26635368, PMID:27081556, PMID:27763634, PMID:28150585, PMID:28492532, PMID:28747691 NCBI chr15:38,252,087...38,357,249
Ensembl chr15:38,252,836...38,357,249
JBrowse link
obstructive jaundice term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22022477 NCBI chr 7:87,398,988...87,476,722
Ensembl chr 7:87,401,697...87,480,435
Ensembl chr 7:87,401,697...87,480,435
JBrowse link
G ADM adrenomedullin ISO protein:increased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397
JBrowse link
G ALB albumin ISO RGD PMID:9161836 RGD:11036102 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G CCL2 C-C motif chemokine ligand 2 treatment ISO RGD PMID:15573249 RGD:8549649 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
JBrowse link
G CD14 CD14 molecule ISO mRNA:increased expression:ileum, liver, lung, spleen RGD PMID:25093541 RGD:9685190 NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,701
JBrowse link
G CFH complement factor H ISO protein:decreased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr 1:196,652,033...196,747,504
Ensembl chr 1:196,652,043...196,747,504
Ensembl chr 1:196,652,043...196,747,504
JBrowse link
G HMBS hydroxymethylbilane synthase ISO Protein:increased activity:liver (rat) RGD PMID:3963818 RGD:4144803 NCBI chr11:119,084,864...119,093,549
Ensembl chr11:119,084,866...119,093,549
JBrowse link
G LBP lipopolysaccharide binding protein ISO mRNA:increased expression:liver RGD PMID:25093541 RGD:9685190 NCBI chr20:38,346,482...38,377,013
Ensembl chr20:38,346,482...38,377,013
JBrowse link
G PCNA proliferating cell nuclear antigen treatment ISO RGD PMID:12917765 RGD:10448973 NCBI chr20:5,114,953...5,126,622
Ensembl chr20:5,114,953...5,126,626
JBrowse link
G TLR2 toll like receptor 2 treatment ISO RGD PMID:29366780 RGD:15090858 NCBI chr 4:153,684,080...153,710,643
Ensembl chr 4:153,684,070...153,706,260
Ensembl chr 4:153,684,070...153,706,260
JBrowse link
G UCP2 uncoupling protein 2 ISO RGD PMID:19632092 RGD:7204429 NCBI chr11:73,974,671...73,983,202
Ensembl chr11:73,974,672...73,983,246
JBrowse link
Posttransfusion Purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITGB3 integrin subunit beta 3 IAGP ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM OMIM
ClinVar
PMID:1430225, PMID:9787162, PMID:14516468, PMID:21658138, PMID:28492532 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,846...47,313,735
Ensembl chr17:47,253,846...47,313,735
Ensembl chr17:47,253,846...47,313,735
JBrowse link
Pruritus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 IAGP
EXP
ClinVar Annotator: match by term: Pruritus
ClinVar Annotator: match by term: Itching
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9806540, PMID:12370274, PMID:14672610, PMID:15791618, PMID:17855769, PMID:18049162, PMID:18395098, PMID:19101985, PMID:25741868, PMID:25847299, PMID:26019043, PMID:26678486, PMID:28492532, PMID:30311386 NCBI chr 2:168,915,468...169,031,396
Ensembl chr 2:168,915,498...169,031,324
JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 IAGP ClinVar Annotator: match by term: Itching ClinVar PMID:30311386 NCBI chr 7:87,398,988...87,476,722
Ensembl chr 7:87,401,697...87,480,435
Ensembl chr 7:87,401,697...87,480,435
JBrowse link
G AHR aryl hydrocarbon receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152
JBrowse link
G ARTN artemin EXP CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr 1:43,933,801...43,937,240
Ensembl chr 1:43,933,320...43,937,240
JBrowse link
G F2RL1 F2R like trypsin receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19712758 NCBI chr 5:76,819,030...76,835,315
Ensembl chr 5:76,818,933...76,835,315
JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Itching ClinVar PMID:30311386 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,306...48,645,849
Ensembl chr15:48,408,306...48,645,849
JBrowse link
G GRK2 G protein-coupled receptor kinase 2 severity ISO RGD PMID:29530536 RGD:13513974 NCBI chr11:67,266,420...67,286,556
Ensembl chr11:67,266,473...67,286,556
JBrowse link
G GRP gastrin releasing peptide EXP CTD Direct Evidence: marker/mechanism CTD PMID:29669290 NCBI chr18:59,219,188...59,230,771
Ensembl chr18:59,220,158...59,230,774
JBrowse link
G HRH1 histamine receptor H1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19652466 NCBI chr 3:11,137,238...11,263,557
Ensembl chr 3:11,137,093...11,263,557
JBrowse link
G HRH4 histamine receptor H4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19652466 NCBI chr18:24,460,637...24,479,974
Ensembl chr18:24,460,637...24,479,961
JBrowse link
G NMB neuromedin B EXP CTD Direct Evidence: marker/mechanism CTD PMID:29669290 NCBI chr15:84,655,132...84,658,611
Ensembl chr15:84,655,129...84,658,563
JBrowse link
G OPRM1 opioid receptor mu 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27192616 NCBI chr 6:154,010,496...154,246,867
Ensembl chr 6:154,010,496...154,246,867
JBrowse link
G PDYN prodynorphin EXP CTD Direct Evidence: marker/mechanism CTD PMID:29669290 NCBI chr20:1,978,756...1,994,285
Ensembl chr20:1,978,757...1,994,285
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24820863 NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
JBrowse link
G TAC1 tachykinin precursor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19652466 NCBI chr 7:97,732,086...97,740,472
Ensembl chr 7:97,732,084...97,740,472
JBrowse link
G TPSAB1 tryptase alpha/beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27749843 NCBI chr16:1,240,705...1,242,554
Ensembl chr16:1,240,705...1,242,554
JBrowse link
purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP290 centrosomal protein 290 IAGP ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chr12:88,049,013...88,142,216
Ensembl chr12:88,049,016...88,142,099
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 IAGP ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chr14:21,385,199...21,456,123
Ensembl chr14:21,385,194...21,456,126
JBrowse link
G CNKSR2 connector enhancer of kinase suppressor of Ras 2 IAGP ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chr  X:21,374,418...21,654,689
Ensembl chr  X:21,372,801...21,654,695
JBrowse link
G DST dystonin IAGP ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chr 6:56,457,996...56,954,830
Ensembl chr 6:56,457,987...56,954,649
JBrowse link
G IL13 interleukin 13 susceptibility IAGP associated withe Sjogren's Syndrome;DNA:SNP:cds:2044 G>A(human) RGD PMID:16166103 RGD:11528572 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Purpura ClinVar PMID:25741868, PMID:28259615, PMID:28492532, PMID:30311386 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
JBrowse link
G SLC1A1 solute carrier family 1 member 1 IAGP ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chr 9:4,490,466...4,587,469
Ensembl chr 9:4,490,468...4,587,469
JBrowse link
G SPATA6L spermatogenesis associated 6 like IAGP ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chr 9:4,540,643...4,666,674
Ensembl chr 9:4,553,386...4,666,674
JBrowse link
G WWOX WW domain containing oxidoreductase IAGP ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,430...79,212,667
JBrowse link
purpura fulminans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PROC protein C, inactivator of coagulation factors Va and VIIIa EXP CTD Direct Evidence: marker/mechanism CTD PMID:18376272 NCBI chr 2:127,418,143...127,429,246
Ensembl chr 2:127,418,427...127,429,246
Ensembl chr 2:127,418,427...127,429,246
JBrowse link
Striae Distensae term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Striae distensae ClinVar PMID:25741868, PMID:30311386 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,306...48,645,849
Ensembl chr15:48,408,306...48,645,849
JBrowse link
G FOXE3 forkhead box E3 IAGP ClinVar Annotator: match by term: Stretch marks ClinVar PMID:30311386 NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052
JBrowse link
G LINC01389 long intergenic non-protein coding RNA 1389 IAGP ClinVar Annotator: match by term: Stretch marks ClinVar PMID:30311386 NCBI chr 1:47,380,796...47,437,317
Ensembl chr 1:47,380,928...47,408,477
JBrowse link
G LOC113939944 Sharpr-MPRA regulatory region 9539 IAGP ClinVar Annotator: match by term: Striae distensae ClinVar PMID:30311386 NCBI chr15:48,520,532...48,520,826 JBrowse link
G ZNF469 zinc finger protein 469 IAGP ClinVar Annotator: match by term: Stretch marks ClinVar PMID:25741868, PMID:30311386 NCBI chr16:88,382,959...88,440,753
Ensembl chr16:88,382,989...88,440,757
Ensembl chr16:88,382,989...88,440,757
JBrowse link
Thrombocytopenic Purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GP9 glycoprotein IX platelet IDA RGD PMID:23103637 RGD:11040532 NCBI chr 3:129,055,449...129,062,411
Ensembl chr 3:129,060,779...129,062,406
Ensembl chr 3:129,060,779...129,062,406
JBrowse link
G ITGA2B integrin subunit alpha 2b ISO RGD PMID:11493456 RGD:2316362 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649
JBrowse link
G ITGB3 integrin subunit beta 3 ISO
IDA
associated with HIV Infections RGD PMID:11493456, PMID:8565280 RGD:2316362, RGD:10755471 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,846...47,313,735
Ensembl chr17:47,253,846...47,313,735
Ensembl chr17:47,253,846...47,313,735
JBrowse link
G VWF von Willebrand factor TAS RGD PMID:14727254 RGD:1580644 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
Ensembl chr12:5,948,877...6,124,770
JBrowse link
thrombotic thrombocytopenic purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 IEP
IAGP
EXP
ISO
protein:decreased activity:plasma (human)
ClinVar Annotator: match by term: Upshaw-Schulman syndrome
ClinVar Annotator: match by term: Thrombotic thrombocytopenic purpura
CTD Direct Evidence: marker/mechanism
Adult Onset Purpura, Thrombotic Thrombocytopenic;DNA:missense mutation:cds:p.R1060W (human)
DNA:mutations:multiple (human)
ClinVar
CTD
OMIM
PMID:6433703, PMID:7094941, PMID:11563771, PMID:11586351, PMID:12181489, PMID:12393505, PMID:12576319, PMID:12656756, PMID:12753286, PMID:14512317, PMID:14563640, PMID:14597993, PMID:15009458, PMID:15126318, PMID:15521921, PMID:15800115, PMID:16453338, PMID:16796708, PMID:16807643, PMID:17003922, PMID:17187257, PMID:17627784, PMID:18031293, PMID:18443791, PMID:18481107, PMID:18581589, PMID:18665921, PMID:19047683, PMID:19055667, PMID:19786614, PMID:19847791, PMID:20647566, PMID:20886194, PMID:21488199, PMID:21676167, PMID:21781265, PMID:22289888, PMID:22529288, PMID:22768050, PMID:23346910, PMID:23621748, PMID:23648131, PMID:23715102, PMID:23847193, PMID:24033266, PMID:24936513, PMID:25442981, PMID:25741868, PMID:25934476, PMID:26081109, PMID:26566785, PMID:27132698, PMID:27802307, PMID:28492532, PMID:30312976, PMID:30792199, PMID:31064749, PMID:31971692, PMID:9129011, PMID:18031293, PMID:11586351, PMID:16200209 RGD:10449028, RGD:10449043, RGD:1598736, RGD:10449037 NCBI chr 9:133,414,337...133,459,403
Ensembl chr 9:133,414,358...133,459,402
JBrowse link
G CD36 CD36 molecule IEP RGD PMID:7529543 RGD:11041104 NCBI chr 7:80,602,207...80,679,277
Ensembl chr 7:80,369,575...80,679,277
JBrowse link
G F3 coagulation factor III, tissue factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 1:94,529,173...94,541,759
Ensembl chr 1:94,529,173...94,541,759
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphisms:cds:HLA-DQB1*0301 (human) RGD PMID:19922436 RGD:11041754 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa IEP RGD PMID:10936861 RGD:11100014 NCBI chr 2:127,418,143...127,429,246
Ensembl chr 2:127,418,427...127,429,246
Ensembl chr 2:127,418,427...127,429,246
JBrowse link
G TFPI tissue factor pathway inhibitor treatment IEP
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:7740478, PMID:7740478 RGD:11340214 NCBI chr 2:187,464,230...187,554,501
Ensembl chr 2:187,464,230...187,565,760
JBrowse link
G THBD thrombomodulin EXP CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
JBrowse link
Thrombotic Thrombocytopenic Purpura, Acquired term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 treatment IDA human protein in a rat model RGD PMID:9828246, PMID:26338302 RGD:10449039, RGD:10449097 NCBI chr 9:133,414,337...133,459,403
Ensembl chr 9:133,414,358...133,459,402
JBrowse link
G VWF von Willebrand factor treatment IMP RGD PMID:26863353 RGD:11079195 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
Ensembl chr12:5,948,877...6,124,770
JBrowse link
Trichohepatoneurodevelopmental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC47 coiled-coil domain containing 47 IAGP ClinVar Annotator: match by term: Trichohepatoneurodevelopmental syndrome OMIM
ClinVar
PMID:30401460 NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351
JBrowse link
Watson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC111811965 NF1 (neurofibromin 1) promoter region IAGP ClinVar Annotator: match by term: Café-au-lait macules with pulmonary stenosis ClinVar PMID:25741868 NCBI chr17:31,093,605...31,095,366 JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Café-au-lait macules with pulmonary stenosis
ClinVar Annotator: match by term: Pulmonic stenosis with cafe-au-lait spots
ClinVar
OMIM
PMID:190611, PMID:1302608, PMID:1568246, PMID:1770531, PMID:6025371, PMID:7904209, PMID:8317503, PMID:9375928, PMID:9654211, PMID:9691142, PMID:10090487, PMID:10607834, PMID:10678181, PMID:10712197, PMID:10726756, PMID:10862084, PMID:10980545, PMID:11857752, PMID:12522551, PMID:12552569, PMID:12807981, PMID:14569132, PMID:15060124, PMID:15146469, PMID:15221447, PMID:15863657, PMID:16138229, PMID:16199547, PMID:16542390, PMID:16786042, PMID:16835897, PMID:16944272, PMID:16961930, PMID:17105749, PMID:17160901, PMID:17369502, PMID:17726231, PMID:18041031, PMID:18172006, PMID:18484666, PMID:18546366, PMID:19117870, PMID:19539839, PMID:19920235, PMID:20142468, PMID:20602485, PMID:21089071, PMID:21354044, PMID:21520333, PMID:21532985, PMID:22041710, PMID:22155606, PMID:22429592, PMID:22604720, PMID:22703879, PMID:22962301, PMID:23047742, PMID:23165953, PMID:23244495, PMID:23354915, PMID:23460398, PMID:23656349, PMID:23668869, PMID:23758643, PMID:23812910, PMID:23913538, PMID:24033266, PMID:24218100, PMID:24219125, PMID:24728327, PMID:24789688, PMID:24932921, PMID:25074460, PMID:25324428, PMID:25325900, PMID:25541118, PMID:25741868, PMID:25951773, PMID:26000329, PMID:26056819, PMID:26155992, PMID:26178382, PMID:26467025, PMID:26489445, PMID:26510091, PMID:26740943, PMID:26758488, PMID:27069254, PMID:27170677, PMID:27322474, PMID:27793025, PMID:28213670, PMID:28492532, PMID:28873162, PMID:28976792, PMID:29483232, PMID:29872168, PMID:30190611, PMID:30287823, PMID:30308447, PMID:30311386, PMID:32566746 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18864
    Pathological Conditions, Signs and Symptoms 9687
      Signs and Symptoms 5971
        Skin Manifestations 148
          Cafe-au-Lait Spots + 26
          Cellulite 0
          Ecchymosis 0
          Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 1
          Jaundice + 33
          Livedo Reticularis + 10
          Necrolytic Migratory Erythema 0
          Pallor 0
          Pruritus + 17
          Striae Distensae + 5
          purpura + 62
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.