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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.


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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) ISO CTD Direct Evidence: marker/mechanism CTD PMID:31618666 NCBI chrNW_004936533:4,242,589...4,263,136 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 chrNW_004936669:3,449,259...3,478,471 JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:peripheral blood, B lymphocyte (human) RGD PMID:17654056 RGD:11344977 NCBI chrNW_004936514:6,936,915...6,947,246 JBrowse link
G Cd40lg CD40 ligand treatment ISO protein:increased expression:peripheral blood, T lymphocyte (human)
protein:decreased expression:serum (mouse)
RGD PMID:16188945, PMID:17654056, PMID:18341638, PMID:22537155 RGD:11344977, RGD:11344980, RGD:11352237, RGD:11352267 NCBI chrNW_004936513:10,607,617...10,620,403 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 chrNW_004936536:8,414,491...8,481,712 JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO mRNA:decreased expression:mononuclear cell RGD PMID:18683034 RGD:9588662 NCBI chrNW_004936493:6,963,406...7,013,256 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 chrNW_004936485:19,547,836...19,570,716 JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:serum: RGD PMID:10776692 RGD:11049162 NCBI chrNW_004936735:209,369...234,582 JBrowse link
G Fcgr2b Fc fragment of IgG receptor IIb 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 chrNW_004937131:80,014...96,114 JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa treatment
susceptibility
ISO DNA:SNP:cds:p.V158F(human)
DNA:SNP:exon:p.F158V (rs396991) (human)
RGD PMID:11380443, PMID:15479722, PMID:22123287, PMID:23484707 RGD:11040776, RGD:11040989, RGD:11344926, RGD:11352255 NCBI chrNW_004937131:42,523...49,533 JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO RGD PMID:16861348 RGD:10450841 NCBI chrNW_004936677:2,774,076...2,779,660 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 chrNW_004936557:5,834,874...5,838,502 JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:plasma: RGD PMID:24801815 RGD:11073600 NCBI chrNW_004936612:2,306,963...2,325,086 JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-899C>T (human) RGD PMID:21591983 RGD:11051966 NCBI chrNW_004936783:1,210,715...1,218,315 JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO DNA:repeats:: RGD PMID:20626741 RGD:11528541 NCBI chrNW_004936783:1,447,158...1,466,331 JBrowse link
G Il2 interleukin 2 susceptibility ISO DNA:polymorphism::-330T>G(human) RGD PMID:20626741 RGD:11528541 NCBI chrNW_004936662:1,594,953...1,599,625 JBrowse link
G Il4 interleukin 4 disease_progression ISO DNA:repeat:intron RGD PMID:25051072 RGD:11041894 NCBI chrNW_004936647:2,510,457...2,518,576 JBrowse link
G Itgb3 integrin subunit beta 3 ISO RGD PMID:10936026, PMID:24258817 RGD:10755473, RGD:10755475 NCBI chrNW_004936541:2,822,789...2,871,069 JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:2129164 RGD:11541072 NCBI chrNW_004936785:476,200...503,371 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 chrNW_004936690:2,180,804...2,232,869 JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Autoimmune thrombocytopenia ClinVar NCBI chrNW_004936530:9,312,965...9,315,593 JBrowse link
G Tgfb1 transforming growth factor beta 1 disease_progression ISO mRNA:increased expression: :
protein:decreased expression:plasma:
RGD PMID:11886393, PMID:24763013, PMID:24801815 RGD:11073598, RGD:11073600, RGD:11073603 NCBI chrNW_004936661:3,742,080...3,758,266 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 chrNW_004936548:2,078,568...2,113,877 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 chrNW_004936508:4,943,987...5,013,356 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 chrNW_004936538:3,394,623...3,596,025 JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Multiple cafe-au-lait spots ClinVar PMID:30311386 NCBI chrNW_004936565:1,596,227...1,746,706 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 chrNW_004936508:12,162,553...12,281,812 JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Multiple cafe-au-lait spots ClinVar PMID:30311386 NCBI chrNW_004936544:6,887,867...6,931,669 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 chrNW_004936513:414,839...893,670 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 chrNW_004936524:9,584,302...9,592,961 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 chrNW_004936706:476,473...494,659 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 chrNW_004936659:2,611,621...2,627,071 JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:30311386 NCBI chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Cafe-au-lait spots ClinVar PMID:30311386 NCBI chrNW_004936543:3,135,169...3,165,023 JBrowse link
G Ethe1 ETHE1 persulfide dioxygenase ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:28933811, PMID:30311386 NCBI chrNW_004936706:726,106...750,733 JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:1594625, PMID:1944469 NCBI chrNW_004936530:1,353,432...1,407,437 JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Cafe-au-lait spots ClinVar PMID:30311386 NCBI chrNW_004936479:16,177,200...16,245,268 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 chrNW_004936538:3,394,623...3,596,025 JBrowse link
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:30311386 NCBI chrNW_004936596:5,265,984...5,301,430 JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO CTD Direct Evidence: marker/mechanism CTD PMID:15077197 NCBI chrNW_004936750:439,396...468,747 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 chrNW_004936668:2,602,261...2,687,903 JBrowse link
G Sik1 salt inducible kinase 1 ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:30311386 NCBI chrNW_004936500:774,749...784,326 JBrowse link
G Spred1 sprouty related EVH1 domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17704776 NCBI chrNW_004936471:1,952,532...2,039,561 JBrowse link
G Tek TEK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:30311386 NCBI chrNW_004936611:2,420,176...2,531,726 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 chrNW_004936694:1,958,152...1,993,373 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 chrNW_004936636:292,631...341,999 JBrowse link
G Dpyd dihydropyrimidine dehydrogenase treatment ISO associated with Neoplasms;DNA:SNP:intron:IVS14+1G>A (human)
associated with Stomach Neoplasms
RGD PMID:19473056, PMID:23064955 RGD:11098817, RGD:11251740 NCBI chrNW_004936537:1,660,461...2,439,305 JBrowse link
G Il1a interleukin 1 alpha treatment ISO associated with Ovarian Neoplasms
associated with Carcinoma, Non-Small-Cell Lung
RGD PMID:7666093, PMID:8151314 RGD:11051963, RGD:11051964 NCBI chrNW_004936783:1,210,715...1,218,315 JBrowse link
G Il1b interleukin 1 beta treatment ISO associated with Glioblastoma; RGD PMID:1331350 RGD:10450883 NCBI chrNW_004936783:1,251,678...1,256,807 JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 severity ISO RGD PMID:10942385, PMID:17234740 RGD:11541093, RGD:11541120 NCBI chrNW_004936541:4,873,459...4,919,787 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 chrNW_004936660:2,575,255...2,622,867 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 chrNW_004936735:266,918...283,858 JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 NCBI chrNW_004936471:10,747,030...10,969,223 JBrowse link
G Myh11 myosin heavy chain 11 ISO 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 chrNW_004936501:3,223,057...3,313,487 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 chrNW_004936725:1,418,930...1,594,697 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 chrNW_004936501:3,193,962...3,234,640 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 chrNW_004936514:6,490,728...6,504,152 JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 NCBI chrNW_004936471:27,080,662...27,185,861 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 chrNW_004936524:7,656,523...7,680,043 JBrowse link
Henoch-Schoenlein purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen severity ISO DNA:missense mutation:cds:p.T174M (human)
DNA:missense mutation:cds:p.M235T (human)
RGD PMID:16521052, PMID:20702504 RGD:11039045, RGD:11039055 NCBI chrNW_004936484:19,713,299...19,721,144 JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1353212 NCBI chrNW_004936588:3,985,732...4,023,221 JBrowse link
G Cd86 CD86 molecule treatment ISO protein:increased expression:venous blood, B cell (human) RGD PMID:27030970 RGD:11354986 NCBI chrNW_004936536:8,414,491...8,481,712 JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chrNW_004936492:5,042,353...5,049,216 JBrowse link
G Igf1 insulin like growth factor 1 ISO protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chrNW_004936492:11,709,623...11,784,028 JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) RGD PMID:9186886 RGD:6909151 NCBI chrNW_004936783:1,447,158...1,466,331 JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:serum RGD PMID:16787590 RGD:11354946 NCBI chrNW_004936647:2,647,982...2,651,477 JBrowse link
G Kng1 kininogen 1 ISO protein:increased expression:serum RGD PMID:26098644 RGD:11059888 NCBI chrNW_004936578:3,255,335...3,281,296 JBrowse link
G LOC101968921 angiotensin-converting enzyme disease_progression ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15315169 RGD:11038920 NCBI chrNW_004936541:4,157,847...4,178,156 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 chrNW_004936694:970,706...980,605 JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:9543574 RGD:11541055 NCBI chrNW_004936785:476,200...503,371 JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:9002298, PMID:12671112 NCBI chrNW_004936521:5,238,128...5,243,829 JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:19967651 RGD:11552576 NCBI chrNW_004936585:4,954,871...4,979,560 JBrowse link
Heparin-induced Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr3a Fc fragment of IgG receptor IIIa susceptibility ISO DNA:SNP:cds:p.V158F(human) RGD PMID:15191947 RGD:11040991 NCBI chrNW_004937131:42,523...49,533 JBrowse link
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 chrNW_004936557:5,834,874...5,838,502 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 ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:mutation:exon:p.E924X(mouse)
DNA:transversion mutation:splice site:1674G>C(mouse)
DNA:transition mutation:intron:
DNA:deletion:cds:
DNA:mutation: :
DNA:deletion mutation:exon:
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 chrNW_004936785:738,323...944,734 JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chrNW_004936493:5,308,268...5,332,934 JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chrNW_004936475:21,863,627...21,877,660 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 chrNW_004936471:6,377,232...6,393,588 JBrowse link
G Klf1 Kruppel like factor 1 ISO DNA:missense mutation:exon:p.E339D (1065A>T) (human) RGD PMID:20691777 RGD:10769342 NCBI chrNW_004936659:1,946,614...1,950,003 JBrowse link
G LOC101973775 olfactory receptor 10Z1 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar NCBI chrNW_004936740:1,765,462...1,766,403 JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:duplication:cds: (human)
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
RGD
PMID:1378323, PMID:8282779, PMID:8547122, PMID:9207478, PMID:9326249 RGD:10450491, RGD:10450506, RGD:10450510, RGD:1599007 NCBI chrNW_004936541:718,577...727,420 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 chrNW_004936740:1,686,218...1,759,083 JBrowse link
G Sptb spectrin beta, erythrocytic ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spherocytosis, Dominant
ClinVar Annotator: match by term: Hereditary spherocytosis
DNA:mutations:cds,splice junction:
CTD
ClinVar
RGD
PMID:8102379, PMID:19538529, PMID:25741868, PMID:28492532 RGD:11059526 NCBI chrNW_004936495:8,415,950...8,540,590 JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chrNW_004936725:553,278...564,846 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 chrNW_004936785:738,323...944,734 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 chrNW_004936495:8,415,950...8,540,590 JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101973775 olfactory receptor 10Z1 ISO ClinVar Annotator: match by term: Spherocytosis type 3 ClinVar NCBI chrNW_004936740:1,765,462...1,766,403 JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 ISO OMIM NCBI chrNW_004936740:1,686,218...1,759,083 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) ISO OMIM NCBI chrNW_004936541:718,577...727,420 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 chrNW_004936471:6,377,232...6,393,588 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 chrNW_004936478:18,811,452...18,850,594 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 chrNW_004936636:292,631...341,999 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 chrNW_004936578:3,168,599...3,179,369 JBrowse link
G Ccl25 C-C motif chemokine ligand 25 ISO mRNA:decreased expression:ileum RGD PMID:18592157 RGD:5130926 NCBI chrNW_004936588:4,973,476...4,998,365 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 chrNW_004936518:4,706,496...4,847,283 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 chrNW_004936497:6,755,626...6,788,568 JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:lung (rat) RGD PMID:19034056 RGD:4145521 NCBI chrNW_004936659:616,570...627,172 JBrowse link
G LOC101969148 cytochrome P450 1A1 ISO RGD PMID:8502229 RGD:11576308 NCBI chrNW_004936471:33,682,730...33,688,332 JBrowse link
G LOC101969421 cytochrome P450 1A2 ISO mRNA:decreased expression:liver RGD PMID:8502229, PMID:18442205 RGD:11576308, RGD:2303375 NCBI chrNW_004936471:33,704,616...33,709,455 JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Icterus ClinVar PMID:30311386 NCBI chrNW_004936541:718,577...727,420 JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Icterus ClinVar PMID:30311386 NCBI chrNW_004936740:1,686,218...1,759,083 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 chrNW_004936471:2,118,797...2,149,346 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 chrNW_004936471:2,152,231...2,222,260 JBrowse link
G Spred1 sprouty related EVH1 domain containing 1 ISO OMIM NCBI chrNW_004936471:1,952,532...2,039,561 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 chrNW_004936763:1,339,849...1,415,528 JBrowse link
G Adm adrenomedullin ISO protein:increased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chrNW_004936528:8,005,223...8,007,586 JBrowse link
G Cd14 CD14 molecule ISO mRNA:increased expression:ileum, liver, lung, spleen RGD PMID:25093541 RGD:9685190 NCBI chrNW_004936531:9,572,392...9,575,771 JBrowse link
G Hmbs hydroxymethylbilane synthase ISO Protein:increased activity:liver (rat) RGD PMID:3963818 RGD:4144803 NCBI chrNW_004936542:4,037,888...4,046,089 JBrowse link
G Lbp lipopolysaccharide binding protein ISO mRNA:increased expression:liver RGD PMID:25093541 RGD:9685190 NCBI chrNW_004936561:3,017,471...3,035,481 JBrowse link
G Pcna proliferating cell nuclear antigen treatment ISO RGD PMID:12917765 RGD:10448973 NCBI chrNW_004936485:13,766,221...13,771,215 JBrowse link
G Tlr2 toll like receptor 2 treatment ISO RGD PMID:29366780 RGD:15090858 NCBI chrNW_004936576:522,234...531,660 JBrowse link
G Ucp2 uncoupling protein 2 ISO RGD PMID:19632092 RGD:7204429 NCBI chrNW_004936498:3,059,700...3,066,112 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 chrNW_004936541:2,822,789...2,871,069 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 chrNW_004936469:10,521,576...10,599,005 JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 ISO ClinVar Annotator: match by term: Itching ClinVar PMID:30311386 NCBI chrNW_004936763:1,339,849...1,415,528 JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chrNW_004936546:3,737,908...3,783,492 JBrowse link
G Artn artemin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chrNW_004936474:25,252,510...25,254,221 JBrowse link
G F2rl1 F2R like trypsin receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19712758 NCBI chrNW_004936549:142,281...153,575 JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Itching ClinVar PMID:30311386 NCBI chrNW_004936471:10,747,030...10,969,223 JBrowse link
G Grk2 G protein-coupled receptor kinase 2 severity ISO RGD PMID:29530536 RGD:13513974 NCBI chrNW_004936599:2,437,061...2,456,141 JBrowse link
G Grp gastrin releasing peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:29669290 NCBI chrNW_004936497:5,473,293...5,487,344 JBrowse link
G Hrh1 histamine receptor H1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652466 NCBI chrNW_004936602:2,182,053...2,185,297 JBrowse link
G Hrh4 histamine receptor H4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652466 NCBI chrNW_004936550:3,815,372...3,831,481 JBrowse link
G Nmb neuromedin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29669290 NCBI chrNW_004936483:16,712,382...16,715,397 JBrowse link
G Oprm1 opioid receptor mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27192616 NCBI chrNW_004936489:6,506,207...6,567,136 JBrowse link
G Pdyn prodynorphin ISO CTD Direct Evidence: marker/mechanism CTD PMID:29669290 NCBI chrNW_004936485:16,559,371...16,571,461 JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24820863 NCBI chrNW_004936469:13,063,971...13,153,030 JBrowse link
G Tac1 tachykinin precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652466 NCBI chrNW_004936585:2,932,783...2,941,141 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 chrNW_004936507:5,223,756...5,305,392 JBrowse link
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chrNW_004936880:546,250...608,061 JBrowse link
G Cnksr2 connector enhancer of kinase suppressor of Ras 2 ISO ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chrNW_004936624:2,727,208...2,989,653 JBrowse link
G Dst dystonin ISO ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chrNW_004936476:4,344,673...4,772,892 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 chrNW_004936647:2,529,933...2,532,503 JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Purpura ClinVar PMID:25741868, PMID:28259615, PMID:28492532, PMID:30311386 NCBI chrNW_004936801:1,185,615...1,298,416 JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chrNW_004936503:613,250...690,555 JBrowse link
G Spata6l spermatogenesis associated 6 like ISO ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chrNW_004936503:555,168...600,347 JBrowse link
G Wwox WW domain containing oxidoreductase ISO ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chrNW_004936475:26,342,245...27,209,563 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 chrNW_004936469:43,841,989...43,850,322 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 chrNW_004936471:10,747,030...10,969,223 JBrowse link
G Foxe3 forkhead box E3 ISO ClinVar Annotator: match by term: Stretch marks ClinVar PMID:30311386 NCBI chrNW_004936474:28,211,144...28,212,963 JBrowse link
G Znf469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Stretch marks ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004936641:1,193,085...1,205,283 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 chrNW_004936798:170,654...171,625 JBrowse link
G Itga2b integrin subunit alpha 2b ISO RGD PMID:11493456 RGD:2316362 NCBI chrNW_004936541:813,815...828,826 JBrowse link
G Itgb3 integrin subunit beta 3 ISO associated with HIV Infections RGD PMID:8565280, PMID:11493456 RGD:10755471, RGD:2316362 NCBI chrNW_004936541:2,822,789...2,871,069 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 chrNW_004936669:3,449,259...3,478,471 JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:7529543 RGD:11041104 NCBI chrNW_004936810:791,823...838,303 JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chrNW_004936537:4,637,028...4,647,915 JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:10936861 RGD:11100014 NCBI chrNW_004936469:43,841,989...43,850,322 JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:7740478 RGD:11340214 NCBI chrNW_004936506:10,103,120...10,172,800 JBrowse link
G Thbd thrombomodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chrNW_004936620:2,563,900...2,568,117 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 chrNW_004936669:3,449,259...3,478,471 JBrowse link
G Vwf von Willebrand factor treatment ISO RGD PMID:26863353 RGD:11079195 NCBI chrNW_004936709:1,578,137...1,741,877 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 chrNW_004936541:4,389,428...4,418,414 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 chrNW_004936538:3,394,623...3,596,025 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11962
    Pathological Conditions, Signs and Symptoms 7204
      Signs and Symptoms 4446
        Skin Manifestations 128
          Cafe-au-Lait Spots + 24
          Cellulite 0
          Ecchymosis 0
          Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 1
          Jaundice + 27
          Livedo Reticularis + 9
          Necrolytic Migratory Erythema 0
          Pallor 0
          Pruritus + 16
          Striae Distensae + 3
          purpura + 52
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.