Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31618666 NCBI chr18:33,977,433...33,999,145
Ensembl chr18:33,977,480...33,998,329
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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19260037 NCBI chr 9:49,839,252...49,867,295
Ensembl chr 9:49,839,252...49,867,295
JBrowse link
G ALB albumin ISO RGD PMID:6683982 RGD:11036083 NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
JBrowse link
G B9D2 B9 domain containing 2 disease_progression ISO mRNA:increased expression: :
protein:decreased expression:plasma:
RGD PMID:11886393, PMID:24763013, PMID:24801815 RGD:11073598, RGD:11073600, RGD:11073603 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G CD40 CD40 molecule ISO protein:increased expression:peripheral blood, B lymphocyte (human) RGD PMID:17654056 RGD:11344977 NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
JBrowse link
G CD40LG CD40 ligand treatment ISO protein:decreased expression:serum (mouse)
protein:increased expression:peripheral blood, T lymphocyte (human)
RGD PMID:16188945, PMID:17654056, PMID:18341638, PMID:22537155 RGD:11344977, RGD:11344980, RGD:11352237, RGD:11352267 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006
JBrowse link
G CD86 CD86 molecule treatment ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:19379594, PMID:20581660 RGD:11354966, RGD:11520785 NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO mRNA:decreased expression:mononuclear cell RGD PMID:18683034 RGD:9588662 NCBI chr17:19,489,524...19,563,074
Ensembl chr17:19,492,193...19,563,902
JBrowse link
G DNMT3B DNA methyltransferase 3 beta susceptibility ISO DNA:SNP:promoter: -579G>T(human)
mRNA:decreased expression:mononuclear cell
RGD PMID:18683034, PMID:23000068 RGD:9588662, RGD:9589094 NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900
JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:serum: RGD PMID:10776692 RGD:11049162 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha ISO RGD PMID:16861348 RGD:10450841 NCBI chr 5:31,681,605...31,683,261 JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain treatment ISO DNA:polymorphisms:cds:HLA-DRB1*0901, HLA-DRB1*0410 (human) RGD PMID:10435723 RGD:11041758 NCBI chr12:2,151,409...2,164,564 JBrowse link
G IL10 interleukin 10 disease_progression ISO DNA:SNPs, haplotypes:promoter:-1082A>G, -819C>T, -592C>A (human)
DNA:SNP:promoter:-627C>A (human)
RGD PMID:22677268, PMID:25051072 RGD:11041894, RGD:11046267 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:plasma: RGD PMID:24801815 RGD:11073600 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
JBrowse link
G IL1A interleukin 1 alpha ISO DNA:SNP:promoter:-899C>T (human) RGD PMID:21591983 RGD:11051966 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
JBrowse link
G IL1RN interleukin 1 receptor antagonist susceptibility ISO DNA:repeats:: RGD PMID:20626741 RGD:11528541 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
JBrowse link
G IL2 interleukin 2 susceptibility ISO DNA:polymorphism::-330T>G(human) RGD PMID:20626741 RGD:11528541 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
JBrowse link
G IL4 interleukin 4 disease_progression ISO DNA:repeat:intron RGD PMID:25051072 RGD:11041894 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
JBrowse link
G ITGB3 integrin subunit beta 3 ISO RGD PMID:10936026, PMID:24258817 RGD:10755473, RGD:10755475 NCBI chr 9:9,179,667...9,231,061
Ensembl chr 9:9,182,562...9,231,451
JBrowse link
G LOC100856137 HLA class II histocompatibility antigen, DQ beta 2 chain treatment ISO DNA:polymorphisms:cds:HLA-DQB1*0401 (human) RGD PMID:10435723 RGD:11041758 NCBI chr12:2,244,820...2,250,822
Ensembl chr12:2,244,820...2,251,662
JBrowse link
G LOC100856270 low affinity immunoglobulin gamma Fc region receptor II treatment
disease_progression
ISO DNA:SNP: :p.I232T (human) RGD PMID:15566359, PMID:19549396, PMID:21045192, PMID:21131591, PMID:22257295 RGD:11040933, RGD:11344927, RGD:11344928, RGD:11344931, RGD:11344955 NCBI chr38:20,980,777...20,994,403 JBrowse link
G LOC478984 low affinity immunoglobulin gamma Fc region receptor III treatment
susceptibility
ISO DNA:SNP:exon:p.F158V (rs396991) (human)
DNA:SNP:cds:p.V158F(human)
RGD PMID:11380443, PMID:15479722, PMID:22123287, PMID:23484707 RGD:11040776, RGD:11040989, RGD:11344926, RGD:11352255 NCBI chr38:21,054,870...21,060,948 JBrowse link
G MIR130A microRNA mir-130a ISO RNA:decreased expression:PBMC RGD PMID:24801815 RGD:11073600 NCBI chr18:38,543,618...38,543,679
Ensembl chr18:38,543,618...38,543,681
JBrowse link
G MIR409 microRNA mir-409 treatment ISO RGD PMID:23360331 RGD:10755694 NCBI chr 8:69,293,782...69,293,835 JBrowse link
G PLAT plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:2129164 RGD:11541072 NCBI chr16:23,469,590...23,496,013 JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 no_association ISO DNA:snp:cds:c.1858C>T (rs2476601) (human)
DNA: snp: cds: C1858T
RGD PMID:21597364, PMID:27309885 RGD:11535019, RGD:6484673 NCBI chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Autoimmune thrombocytopenia ClinVar NCBI chr 6:31,511,003...31,511,995
Ensembl chr 6:31,509,268...31,511,557
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 ISO ClinVar Annotator: match by term: Multiple cafe-au-lait spots ClinVar PMID:30311386 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: Multiple cafe-au-lait spots ClinVar PMID:21056691, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210
JBrowse link
G NF1 neurofibromin 1 ISO 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 chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Multiple cafe-au-lait spots ClinVar PMID:30311386 NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Cafe au lait spots, multiple ClinVar NCBI chr17:31,007,940...31,181,569
Ensembl chr17:31,009,257...31,142,063
JBrowse link
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Multiple cafe-au-lait spots ClinVar PMID:30311386 NCBI chr29:38,655,531...38,715,774
Ensembl chr29:38,654,733...38,720,559
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 ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:30311386 NCBI chr  X:116,849,294...117,167,875
Ensembl chr  X:116,696,401...117,164,655
JBrowse link
G ALDOB aldolase, fructose-bisphosphate B ISO 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 chr11:58,150,621...58,166,266
Ensembl chr11:58,150,967...58,176,319
JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO 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 chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916
JBrowse link
G CC2D1A coiled-coil and C2 domain containing 1A ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:30311386 NCBI chr20:48,549,107...48,566,062
Ensembl chr20:48,549,591...48,565,828
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:30311386 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G ELN elastin ISO ClinVar Annotator: match by term: Cafe-au-lait spots ClinVar PMID:30311386 NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325
JBrowse link
G ETHE1 ETHE1 persulfide dioxygenase ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:28933811, PMID:30311386 NCBI chr 1:111,583,690...111,607,420
Ensembl chr 1:111,471,522...111,607,386
JBrowse link
G GNAS GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:1594625, PMID:1944469 NCBI chr24:43,643,409...43,658,641
Ensembl chr24:43,643,405...43,658,657
JBrowse link
G LAMB1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Cafe-au-lait spots ClinVar PMID:30311386 NCBI chr18:12,634,640...12,700,311
Ensembl chr18:12,630,554...12,700,308
JBrowse link
G NF1 neurofibromin 1 ISO 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 chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
JBrowse link
G NOTCH3 notch receptor 3 ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:30311386 NCBI chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component ISO CTD Direct Evidence: marker/mechanism CTD PMID:15077197 NCBI chr 6:11,411,062...11,438,767
Ensembl chr 6:11,349,453...11,438,940
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO 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 chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
JBrowse link
G SIK1 salt inducible kinase 1 ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:30311386 NCBI chr31:37,455,130...37,466,829 JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17704776 NCBI chr30:5,594,327...5,716,082
Ensembl chr30:5,594,473...5,712,040
JBrowse link
G TEK TEK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:30311386 NCBI chr11:45,278,375...45,377,300
Ensembl chr11:45,278,891...45,409,093
JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Cafe-au-lait spot
ClinVar Annotator: match by term: Cafe-au-lait spots
ClinVar PMID:28492532, PMID:30311386 NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960
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 ISO associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP, haplotype:promoter,cds: 3972C>T, -24C>T(human) RGD PMID:20943283 RGD:11080978 NCBI chr28:12,670,885...12,740,124
Ensembl chr28:12,670,885...12,740,740
JBrowse link
G DPYD dihydropyrimidine dehydrogenase treatment ISO associated with Stomach Neoplasms
associated with Neoplasms;DNA:SNP:intron:IVS14+1G>A (human)
RGD PMID:19473056, PMID:23064955 RGD:11098817, RGD:11251740 NCBI chr 6:51,789,786...52,564,802
Ensembl chr 6:51,814,573...52,580,923
JBrowse link
G IL1A interleukin 1 alpha treatment ISO associated with Carcinoma, Non-Small-Cell Lung
associated with Ovarian Neoplasms
RGD PMID:7666093, PMID:8151314 RGD:11051963, RGD:11051964 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
JBrowse link
G IL1B interleukin 1 beta treatment ISO associated with Glioblastoma; RGD PMID:1331350 RGD:10450883 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 severity ISO RGD PMID:10942385, PMID:17234740 RGD:11541093, RGD:11541120 NCBI chr 9:12,166,124...12,219,553
Ensembl chr 9:12,166,775...12,219,778
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 ISO OMIM NCBI chr26:433,990...481,018
Ensembl chr26:433,879...479,917
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 ISO OMIM NCBI chr26:38,700,434...38,714,915
Ensembl chr26:38,700,480...38,711,753
JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151
JBrowse link
G MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6
ClinVar PMID:25500235, PMID:25637381, PMID:25741868, PMID:28492532 NCBI chr 6:28,041,330...28,157,277
Ensembl chr 6:28,041,318...28,262,184
JBrowse link
G MYLK myosin light chain kinase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:24033266, PMID:25637381, PMID:25741868, PMID:28492532 NCBI chr33:26,663,991...26,867,370
Ensembl chr33:26,664,800...26,843,181
JBrowse link
G NDE1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25500235, PMID:25637381, PMID:25741868 NCBI chr 6:28,143,244...28,186,069
Ensembl chr 6:28,143,244...28,186,051
JBrowse link
G SLC2A10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868, PMID:28492532 NCBI chr24:33,905,099...33,920,604
Ensembl chr24:33,905,203...33,919,454
JBrowse link
G SMAD3 SMAD family member 3 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 NCBI chr30:31,246,313...31,360,098
Ensembl chr30:31,245,657...31,363,337
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25741868, PMID:27879313, PMID:28492532 NCBI chr11:56,191,383...56,223,042
Ensembl chr11:56,161,772...56,218,594
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 ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15315169 RGD:11038920 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
JBrowse link
G AGT angiotensinogen severity ISO 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 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1353212 NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
JBrowse link
G CCL2 C-C motif chemokine ligand 2 susceptibility ISO protein:increased expression:serum (human)
DNA:snp:promoter:g.-2518C>T (human)
RGD PMID:25839768, PMID:26234573 RGD:11522500, RGD:11528567 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CD86 CD86 molecule treatment ISO protein:increased expression:venous blood, B cell (human) RGD PMID:27030970 RGD:11354986 NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087
JBrowse link
G HMOX1 heme oxygenase 1 ISO protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773
JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) RGD PMID:9186886 RGD:6909151 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
JBrowse link
G IL5 interleukin 5 ISO protein:increased expression:serum RGD PMID:16787590 RGD:11354946 NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269
JBrowse link
G KNG1 kininogen 1 ISO protein:increased expression:serum RGD PMID:26098644 RGD:11059888 NCBI chr34:19,288,629...19,318,096
Ensembl chr34:19,287,109...19,318,081
JBrowse link
G MEFV MEFV innate immuity regulator, pyrin susceptibility ISO DNA:mutations:exons:
DNA:mutations:cds:
DNA:mutation:exon:p. E148Q (human)
RGD PMID:20602240, PMID:22451026, PMID:25232290 RGD:11531116, RGD:7349346, RGD:7349347 NCBI chr 6:37,964,776...37,984,830
Ensembl chr 6:37,970,608...37,983,737
JBrowse link
G PLAT plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:9543574 RGD:11541055 NCBI chr16:23,469,590...23,496,013 JBrowse link
G PLAU plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:9002298, PMID:12671112 NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851
JBrowse link
G PON1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:19967651 RGD:11552576 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
JBrowse link
Heparin-induced Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL10 interleukin 10 no_association ISO DNA:SNPs:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human)
DNA:repeats, haplotype:promoter
RGD PMID:22239992 RGD:11049164 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G LOC478984 low affinity immunoglobulin gamma Fc region receptor III susceptibility ISO DNA:SNP:cds:p.V158F(human) RGD PMID:15191947 RGD:11040991 NCBI chr38:21,054,870...21,060,948 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 ISO DNA:mutation: :
ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:mutation:exon:p.E924X(mouse)
DNA:deletion mutation:exon:
DNA:transversion mutation:splice site:1674G>C(mouse)
DNA:transition mutation:intron:
DNA:deletion:cds:
RGD
ClinVar
PMID:8640229, PMID:9054656, PMID:14671619, PMID:19179303, PMID:21193012, PMID:23390527, PMID:23934996 RGD:11041609, RGD:11251674, RGD:11251675, RGD:11251676, RGD:11251680, RGD:11251681, RGD:1578350 NCBI chr16:23,858,299...23,966,181
Ensembl chr16:23,766,193...23,964,226
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr17:21,198,839...21,221,897
Ensembl chr17:21,197,826...21,221,635
JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 5:77,756,411...77,766,207
Ensembl chr 5:77,756,407...77,774,090
JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive RGD
ClinVar
PMID:1558976 RGD:1598910 NCBI chr30:10,065,352...10,085,021
Ensembl chr30:10,065,469...10,084,976
JBrowse link
G KLF1 Kruppel like factor 1 ISO DNA:missense mutation:exon:p.E339D (1065A>T) (human) RGD PMID:20691777 RGD:10769342 NCBI chr20:49,295,097...49,298,668
Ensembl chr20:49,295,195...49,298,602
JBrowse link
G OR10Z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar NCBI chr38:23,122,339...23,123,280
Ensembl chr38:23,122,339...23,123,280
JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:missense mutation:cds:p.G771D (human)
DNA:duplication:cds: (human)
DNA:missense mutations:cds:p.E40K, p.P147S, p.V488M (human)
mRNA:splicing error:intron:IVS8+1G>T (human)
CTD
ClinVar
RGD
PMID:1378323, PMID:8282779, PMID:8547122, PMID:9207478, PMID:9326249 RGD:10450491, RGD:10450506, RGD:10450510, RGD:1599007 NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO DNA:polymorphisms:introns,exon:
ClinVar Annotator: match by term: Spherocytosis, Recessive
DNA:deletion:cds:
RGD
ClinVar
PMID:11920196, PMID:15384986, PMID:28492532 RGD:11059521, RGD:11059522 NCBI chr38:23,052,046...23,118,933
Ensembl chr38:23,051,563...23,118,966
JBrowse link
G SPTB spectrin beta, erythrocytic ISO mRNA:decreased expression:erythrocyte:
ClinVar Annotator: match by term: Spherocytosis, Dominant
ClinVar Annotator: match by term: Hereditary spherocytosis
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:8102379, PMID:19538529, PMID:25741868, PMID:28492532 RGD:11059526 NCBI chr 8:39,156,388...39,300,908
Ensembl chr 8:39,158,795...39,221,193
JBrowse link
G UMPS uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr33:27,754,592...27,782,517
Ensembl chr33:27,754,643...27,782,514
JBrowse link
hereditary spherocytosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANK1 ankyrin 1 ISO OMIM NCBI chr16:23,858,299...23,966,181
Ensembl chr16:23,766,193...23,964,226
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 ISO OMIM NCBI chr 8:39,156,388...39,300,908
Ensembl chr 8:39,158,795...39,221,193
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 ISO ClinVar Annotator: match by term: Spherocytosis type 3 ClinVar NCBI chr38:23,122,339...23,123,280
Ensembl chr38:23,122,339...23,123,280
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO OMIM NCBI chr38:23,052,046...23,118,933
Ensembl chr38:23,051,563...23,118,966
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 ISO OMIM NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915
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 ISO OMIM NCBI chr30:10,065,352...10,085,021
Ensembl chr30:10,065,469...10,084,976
JBrowse link
Hyperbiliverdinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLVRA biliverdin reductase A ISO OMIM NCBI chr18:6,424,833...6,506,399
Ensembl chr18:6,426,255...6,495,647
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 ISO ClinVar Annotator: match by term: Icterus ClinVar PMID:30311386 NCBI chr28:12,670,885...12,740,124
Ensembl chr28:12,670,885...12,740,740
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO associated with Biliary Atresia; protein:increased expression:serum RGD PMID:21356120 RGD:5686894 NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844
JBrowse link
G CCL25 C-C motif chemokine ligand 25 ISO mRNA:decreased expression:ileum RGD PMID:18592157 RGD:5130926 NCBI chr20:52,689,674...52,722,291
Ensembl chr20:52,712,979...52,722,018
JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Jaundice ClinVar PMID:25407461, PMID:25741868, PMID:26092869, PMID:28125082, PMID:28492532, PMID:30311386 NCBI chr 4:71,435,994...71,567,567
Ensembl chr 4:71,430,575...71,567,267
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO RGD PMID:8502229 RGD:11576308 NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866
JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 ISO mRNA:decreased expression:liver RGD PMID:8502229, PMID:18442205 RGD:11576308, RGD:2303375 NCBI chr30:37,818,400...37,824,192
Ensembl chr30:37,799,140...37,824,135
JBrowse link
G FECH ferrochelatase ISO 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 chr 1:18,352,184...18,384,251
Ensembl chr 1:18,345,811...18,383,092
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:lung (rat) RGD PMID:19034056 RGD:4145521 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
JBrowse link
G LOC609402 hemoglobin subunit beta-like ISO DNA:polymorphism:CDS:329C>G, amino acid H92Q RGD PMID:10870887 RGD:1600896 NCBI chr21:28,187,535...28,188,991 JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO ClinVar Annotator: match by term: Icterus ClinVar PMID:30311386 NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915
JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Icterus ClinVar PMID:30311386 NCBI chr38:23,052,046...23,118,933
Ensembl chr38:23,051,563...23,118,966
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 ISO ClinVar Annotator: match by term: Legius syndrome ClinVar PMID:21548021, PMID:22753041, PMID:28492532 NCBI chr30:5,802,656...5,839,256
Ensembl chr30:5,802,734...5,837,657
JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 ISO ClinVar Annotator: match by term: Legius syndrome ClinVar PMID:21548021, PMID:22753041, PMID:28492532 NCBI chr30:5,840,901...5,914,804
Ensembl chr30:5,841,738...5,914,810
JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 ISO OMIM NCBI chr30:5,594,327...5,716,082
Ensembl chr30:5,594,473...5,712,040
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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22022477 NCBI chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571
JBrowse link
G ADM adrenomedullin ISO protein:increased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr21:33,472,197...33,474,472
Ensembl chr21:33,471,623...33,474,495
JBrowse link
G ALB albumin ISO RGD PMID:9161836 RGD:11036102 NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
JBrowse link
G CCL2 C-C motif chemokine ligand 2 treatment ISO RGD PMID:15573249 RGD:8549649 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CD14 CD14 molecule ISO mRNA:increased expression:ileum, liver, lung, spleen RGD PMID:25093541 RGD:9685190 NCBI chr 2:35,790,505...35,792,967 JBrowse link
G CFH complement factor H ISO protein:decreased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr38:2,878,677...2,956,226 JBrowse link
G HMBS hydroxymethylbilane synthase ISO Protein:increased activity:liver (rat) RGD PMID:3963818 RGD:4144803 NCBI chr 5:14,767,306...14,775,205
Ensembl chr 5:14,767,666...14,775,082
JBrowse link
G LBP lipopolysaccharide binding protein ISO mRNA:increased expression:liver RGD PMID:25093541 RGD:9685190 NCBI chr24:26,810,369...26,833,515
Ensembl chr24:26,809,843...26,833,434
JBrowse link
G PCNA proliferating cell nuclear antigen treatment ISO RGD PMID:12917765 RGD:10448973 NCBI chr24:16,478,774...16,485,992
Ensembl chr24:16,478,769...16,484,992
JBrowse link
G TLR2 toll like receptor 2 treatment ISO RGD PMID:29366780 RGD:15090858 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
JBrowse link
G UCP2 uncoupling protein 2 ISO RGD PMID:19632092 RGD:7204429 NCBI chr21:24,304,410...24,311,392
Ensembl chr21:24,304,457...24,311,128
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 ISO OMIM NCBI chr 9:9,179,667...9,231,061
Ensembl chr 9:9,182,562...9,231,451
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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Itching
ClinVar Annotator: match by term: Pruritus
CTD
ClinVar
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 chr36:13,742,895...13,835,312
Ensembl chr36:13,746,964...13,834,974
JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 ISO ClinVar Annotator: match by term: Itching ClinVar PMID:30311386 NCBI chr14:13,542,610...13,614,334
Ensembl chr14:13,548,462...13,614,571
JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr14:31,743,704...31,793,484
Ensembl chr14:31,686,170...31,791,444
JBrowse link
G F2RL1 F2R like trypsin receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19712758 NCBI chr 3:29,801,119...29,810,006
Ensembl chr 3:29,800,211...29,810,180
JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Itching ClinVar PMID:30311386 NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151
JBrowse link
G GRK2 G protein-coupled receptor kinase 2 severity ISO RGD PMID:29530536 RGD:13513974 NCBI chr18:50,148,566...50,167,422
Ensembl chr18:50,148,598...50,167,428
JBrowse link
G GRP gastrin releasing peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:29669290 NCBI chr 1:16,974,818...16,987,578
Ensembl chr 1:16,975,113...16,987,531
JBrowse link
G HRH1 histamine receptor H1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652466 NCBI chr20:7,160,903...7,236,147
Ensembl chr20:7,162,393...7,235,869
JBrowse link
G HRH4 histamine receptor H4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652466 NCBI chr 7:63,918,408...63,932,258
Ensembl chr 7:63,918,232...63,932,569
JBrowse link
G NMB neuromedin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29669290 NCBI chr 3:53,927,891...53,931,129
Ensembl chr 3:53,927,900...53,931,069
JBrowse link
G OPRM1 opioid receptor mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27192616 NCBI chr 1:43,972,915...44,037,477
Ensembl chr 1:43,972,219...44,141,238
JBrowse link
G PDYN prodynorphin ISO CTD Direct Evidence: marker/mechanism CTD PMID:29669290 NCBI chr24:19,043,955...19,057,413
Ensembl chr24:19,053,870...19,056,364
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24820863 NCBI chr36:11,287,358...11,382,897
Ensembl chr36:11,290,625...11,383,255
JBrowse link
G TAC1 tachykinin precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652466 NCBI chr14:22,631,106...22,640,283
Ensembl chr14:22,632,642...22,640,258
JBrowse link
purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429
JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chr15:18,430,601...18,492,564
Ensembl chr15:18,431,019...18,491,920
JBrowse link
G CNKSR2 connector enhancer of kinase suppressor of Ras 2 ISO ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chr  X:17,187,742...17,464,526
Ensembl chr  X:17,187,742...17,463,102
JBrowse link
G DST dystonin ISO ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chr12:23,715,637...24,195,220
Ensembl chr12:23,716,466...24,195,416
JBrowse link
G IL13 interleukin 13 susceptibility ISO associated withe Sjogren's Syndrome;DNA:SNP:cds:2044 G>A(human) RGD PMID:16166103 RGD:11528572 NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Purpura ClinVar PMID:25741868, PMID:28259615, PMID:28492532, PMID:30311386 NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493
JBrowse link
G SLC1A1 solute carrier family 1 member 1 ISO ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chr 1:92,898,274...92,978,260
Ensembl chr 1:92,898,274...92,978,260
JBrowse link
G SPATA6L spermatogenesis associated 6 like ISO ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chr 1:92,994,949...93,041,135
Ensembl chr 1:92,994,946...93,041,135
JBrowse link
G WWOX WW domain containing oxidoreductase ISO ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chr 5:72,298,254...73,243,667
Ensembl chr 5:72,299,157...73,261,406
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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18376272 NCBI chr19:23,173,626...23,183,634
Ensembl chr19:23,173,635...23,183,563
JBrowse link
Striae Distensae term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Striae distensae ClinVar PMID:25741868, PMID:30311386 NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151
JBrowse link
G FOXE3 forkhead box E3 ISO ClinVar Annotator: match by term: Stretch marks ClinVar PMID:30311386 NCBI chr15:13,291,160...13,295,982 JBrowse link
G ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Stretch marks ClinVar PMID:25741868, PMID:30311386 NCBI chr 5:64,887,534...64,903,553 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 ISO RGD PMID:23103637 RGD:11040532 NCBI chr20:3,027,790...3,029,496 JBrowse link
G ITGA2B integrin subunit alpha 2b ISO RGD PMID:11493456 RGD:2316362 NCBI chr 9:19,049,643...19,064,019
Ensembl chr 9:19,050,001...19,063,992
JBrowse link
G ITGB3 integrin subunit beta 3 ISO associated with HIV Infections RGD PMID:8565280, PMID:11493456 RGD:10755471, RGD:2316362 NCBI chr 9:9,179,667...9,231,061
Ensembl chr 9:9,182,562...9,231,451
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 ISO OMIM NCBI chr 9:49,839,252...49,867,295
Ensembl chr 9:49,839,252...49,867,295
JBrowse link
G CD36 CD36 molecule ISO RGD PMID:7529543 RGD:11041104 NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639
JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 6:54,709,581...54,720,603
Ensembl chr 6:54,708,471...54,720,607
JBrowse link
G LOC100856137 HLA class II histocompatibility antigen, DQ beta 2 chain ISO DNA:polymorphisms:cds:HLA-DQB1*0301 (human) RGD PMID:19922436 RGD:11041754 NCBI chr12:2,244,820...2,250,822
Ensembl chr12:2,244,820...2,251,662
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:10936861 RGD:11100014 NCBI chr19:23,173,626...23,183,634
Ensembl chr19:23,173,635...23,183,563
JBrowse link
G TFPI tissue factor pathway inhibitor treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:7740478 RGD:11340214 NCBI chr36:29,457,131...29,546,455
Ensembl chr36:29,459,371...29,511,310
JBrowse link
G THBD thrombomodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649
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 ISO human protein in a rat model RGD PMID:9828246, PMID:26338302 RGD:10449039, RGD:10449097 NCBI chr 9:49,839,252...49,867,295
Ensembl chr 9:49,839,252...49,867,295
JBrowse link
G VWF von Willebrand factor treatment ISO RGD PMID:26863353 RGD:11079195 NCBI chr27:38,834,812...38,972,614
Ensembl chr27:38,833,837...39,320,142
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 ISO OMIM NCBI chr 9:11,715,793...11,737,055
Ensembl chr 9:11,717,163...11,736,890
JBrowse link
Watson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF1 neurofibromin 1 ISO OMIM NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12699
    Pathological Conditions, Signs and Symptoms 7631
      Signs and Symptoms 4638
        Skin Manifestations 135
          Cafe-au-Lait Spots + 24
          Cellulite 0
          Ecchymosis 0
          Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 1
          Jaundice + 31
          Livedo Reticularis + 9
          Necrolytic Migratory Erythema 0
          Pallor 0
          Pruritus + 15
          Striae Distensae + 3
          purpura + 58
paths to the root

NHLBI Logo

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