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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 Cd59b CD59b antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:31618666 NCBI chr 2:103,900,127...103,920,619
Ensembl chr 2:103,900,194...103,921,532
JBrowse link
autoimmune thrombocytopenic purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19260037 NCBI chr 2:26,863,363...26,899,638
Ensembl chr 2:26,863,428...26,899,640
JBrowse link
G Alb albumin ISO RGD PMID:6683982 RGD:11036083 NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
JBrowse link
G Cd40 CD40 antigen ISO protein:increased expression:peripheral blood, B lymphocyte (human) RGD PMID:17654056 RGD:11344977 NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
JBrowse link
G Cd40lg CD40 ligand treatment ISO
IEP
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:56,257,503...56,269,402
Ensembl chr  X:56,257,503...56,269,402
JBrowse link
G Cd86 CD86 antigen treatment ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:19379594 PMID:20581660 RGD:11354966, RGD:11520785 NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
JBrowse link
G Dnmt3a DNA methyltransferase 3A ISO mRNA:decreased expression:mononuclear cell RGD PMID:18683034 RGD:9588662 NCBI chr12:3,851,559...3,964,443
Ensembl chr12:3,856,007...3,964,443
JBrowse link
G Dnmt3b DNA methyltransferase 3B susceptibility ISO mRNA:decreased expression:mononuclear cell
DNA:SNP:promoter: -579G>T(human)
RGD PMID:18683034 PMID:23000068 RGD:9588662, RGD:9589094 NCBI chr 2:153,491,332...153,529,650
Ensembl chr 2:153,491,370...153,529,650
JBrowse link
G Fas Fas (TNF receptor superfamily member 6) ISO protein:increased expression:serum: RGD PMID:10776692 RGD:11049162 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
JBrowse link
G Fcgr2b Fc receptor, IgG, low affinity IIb treatment
disease_progression
ISO
IMP
IDA
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 1:170,788,127...170,803,691
Ensembl chr 1:170,786,186...170,804,116
JBrowse link
G Fcgr3 Fc receptor, IgG, low affinity III no_association
susceptibility
treatment
IMP
ISO
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 1:170,878,738...170,893,476
Ensembl chr 1:170,878,743...170,892,504
JBrowse link
G Fcgr4 Fc receptor, IgG, low affinity IV treatment
susceptibility
ISO
IGI
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 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
JBrowse link
G Gp1ba glycoprotein 1b, alpha polypeptide IMP RGD PMID:16861348 RGD:10450841 NCBI chr11:70,529,928...70,534,812
Ensembl chr11:70,529,948...70,532,862
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 treatment ISO DNA:polymorphisms:cds:HLA-DQB1*0401 (human) RGD PMID:10435723 RGD:11041758 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta treatment ISO DNA:polymorphisms:cds:HLA-DRB1*0901, HLA-DRB1*0410 (human) RGD PMID:10435723 RGD:11041758 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
G Il10 interleukin 10 disease_progression ISO 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 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:plasma: RGD PMID:24801815 RGD:11073600 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-899C>T (human) RGD PMID:21591983 RGD:11051966 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO DNA:repeats:: RGD PMID:20626741 RGD:11528541 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
JBrowse link
G Il2 interleukin 2 susceptibility ISO DNA:polymorphism::-330T>G(human) RGD PMID:20626741 RGD:11528541 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
JBrowse link
G Il4 interleukin 4 disease_progression ISO DNA:repeat:intron RGD PMID:25051072 RGD:11041894 NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
JBrowse link
G Itgb3 integrin beta 3 ISO
IMP
RGD PMID:10936026 PMID:24258817 RGD:10755473, RGD:10755475 NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302
JBrowse link
G Mir130a microRNA 130a ISO RNA:decreased expression:PBMC RGD PMID:24801815 RGD:11073600 NCBI chr 2:84,571,459...84,571,522
Ensembl chr 2:84,571,459...84,571,522
JBrowse link
G Mir409 microRNA 409 treatment ISO RGD PMID:23360331 RGD:10755694 NCBI chr12:109,709,592...109,709,670
Ensembl chr12:109,709,592...109,709,670
JBrowse link
G Plat plasminogen activator, tissue ISO protein:increased expression:plasma (human) RGD PMID:2129164 RGD:11541072 NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) no_association ISO DNA: snp: cds: C1858T
DNA:snp:cds:c.1858C>T (rs2476601) (human)
RGD PMID:21597364 PMID:27309885 RGD:6484673, RGD:11535019 NCBI chr 3:103,763,891...103,819,568
Ensembl chr 3:103,767,111...103,819,563
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Autoimmune thrombocytopenic purpura ClinVar PMID:33087723 NCBI chr16:10,601,672...10,603,400
Ensembl chr16:10,600,104...10,603,400
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:11073603, RGD:11073600 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
JBrowse link
Cafe au lait Spots, Multiple term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Cafe au lait spots, multiple ClinVar PMID:1568247 PMID:7581973 PMID:7981679 PMID:8264648 PMID:8837715 More... NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
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 chr17:80,701,181...80,787,882
Ensembl chr17:80,701,180...80,787,882
JBrowse link
Cafe-au-Lait Spots term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:1594625 PMID:1944469 NCBI chr 2:174,126,113...174,188,537
Ensembl chr 2:174,126,113...174,188,537
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:10607834 PMID:10712197 PMID:12807981 PMID:16199547 PMID:16835897 More... NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
JBrowse link
G Pms2 PMS1 homolog2, mismatch repair system component ISO CTD Direct Evidence: marker/mechanism CTD PMID:15077197 NCBI chr 5:143,846,379...143,922,538
Ensembl chr 5:143,846,782...143,870,786
Ensembl chr 5:143,846,782...143,870,786
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:15121796 PMID:17339163 PMID:17875892 PMID:18241070 PMID:24033266 More... NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460
JBrowse link
G Spred1 sprouty protein with EVH-1 domain 1, related sequence ISO CTD Direct Evidence: marker/mechanism CTD PMID:17704776 NCBI chr 2:116,951,552...117,012,760
Ensembl chr 2:116,951,855...117,012,760
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr17:24,814,790...24,851,607
Ensembl chr17:24,814,790...24,851,604
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, sub-family C (CFTR/MRP), 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 chr19:43,770,747...43,826,771
Ensembl chr19:43,770,631...43,829,179
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 chr 3:118,355,758...119,226,573
Ensembl chr 3:118,355,778...119,226,573
JBrowse link
G Gstm1 glutathione S-transferase, mu 1 susceptibility
treatment
ISO 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 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
JBrowse link
G Gstt1 glutathione S-transferase, theta 1 treatment ISO associated with diffuse large B-cell lymphoma; DNA:deletion:cds: RGD PMID:20303013 RGD:10450835 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
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 chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
JBrowse link
G Il1b interleukin 1 beta treatment ISO associated with Glioblastoma; RGD PMID:1331350 RGD:10450883 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
JBrowse link
G Pecam1 platelet/endothelial cell adhesion molecule 1 severity ISO
IMP
RGD PMID:10942385 PMID:17234740 RGD:11541093, RGD:11541120 NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454
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 polymerase (DNA directed), epsilon ISO ClinVar Annotator: match by term: Facial dysmorphism, immunodeficiency, livedo, and short stature OMIM
ClinVar
PMID:9536098 PMID:16699561 PMID:17576681 PMID:20091185 PMID:21129811 More... NCBI chr 5:110,434,185...110,485,319
Ensembl chr 5:110,434,172...110,485,340
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, aorta 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 OMIM
ClinVar
PMID:9536098 PMID:10532176 PMID:13129918 PMID:15138499 PMID:15472996 More... NCBI chr19:34,217,736...34,232,985
Ensembl chr19:34,218,490...34,232,990
JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:28492532 NCBI chr19:34,451,183...34,452,548
Ensembl chr19:34,451,178...34,452,564
JBrowse link
G Fas Fas (TNF receptor superfamily member 6) ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:28492532 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913
JBrowse link
G Lipa lysosomal acid lipase A ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:28492532 NCBI chr19:34,469,716...34,504,874
Ensembl chr19:34,469,718...34,504,874
JBrowse link
G Myh11 myosin, heavy polypeptide 11, smooth muscle ISO 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 chr16:14,012,391...14,110,052
Ensembl chr16:14,012,399...14,109,236
JBrowse link
G Mylk myosin, light polypeptide kinase ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr16:34,565,569...34,822,806
Ensembl chr16:34,565,580...34,822,790
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 chr16:13,981,139...14,010,792
Ensembl chr16:13,981,139...14,010,792
JBrowse link
G Slc2a10 solute carrier family 2 (facilitated glucose transporter), member 10 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:165,345,817...165,361,837
Ensembl chr 2:165,345,707...165,361,837
JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 NCBI chr 9:63,554,048...63,665,276
Ensembl chr 9:63,554,049...63,665,276
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor I ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:47,353,222...47,414,926
Ensembl chr 4:47,353,222...47,414,931
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 (peptidyl-dipeptidase A) 1 disease_progression ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15315169 RGD:11038920 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
JBrowse link
G Agt angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 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 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445
JBrowse link
G C3 complement component 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1353212 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 susceptibility ISO DNA:snp:promoter:g.-2518C>T (human)
protein:increased expression:serum (human)
RGD PMID:26234573 PMID:25839768 RGD:11522500, RGD:11528567 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
JBrowse link
G Cd86 CD86 antigen treatment ISO protein:increased expression:venous blood, B cell (human) RGD PMID:27030970 RGD:11354986 NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO DNA:polymorphisms:cds:HLA-DQA1*0301, HLA-DQA1*0302 (human) RGD PMID:11836690 RGD:5147830 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) RGD PMID:9186886 RGD:6909151 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
JBrowse link
G Il27 interleukin 27 ISO mRNA,protein:decreased expression:peripheral blood mononuclear cell, blood serum (human)" RGD PMID:33280050 RGD:126790550 NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113
JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:serum RGD PMID:16787590 RGD:11354946 NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
JBrowse link
G Kng2 kininogen 2 ISO protein:increased expression:serum RGD PMID:26098644 RGD:11059888 NCBI chr16:22,804,602...22,847,851
Ensembl chr16:22,804,604...22,848,232
JBrowse link
G Mefv Mediterranean fever susceptibility ISO 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 chr16:3,524,838...3,536,073
Ensembl chr16:3,525,082...3,535,961
JBrowse link
G Plat plasminogen activator, tissue ISO protein:increased expression:plasma (human) RGD PMID:9543574 RGD:11541055 NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:9002298 PMID:12671112 NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453
JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:19967651 RGD:11552576 NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
Heparin-induced Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr4 Fc receptor, IgG, low affinity IV susceptibility ISO DNA:SNP:cds:p.V158F(human) RGD PMID:15191947 RGD:11040991 NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
JBrowse link
G Il10 interleukin 10 no_association ISO 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 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
JBrowse link
hereditary spherocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank1 ankyrin 1, erythroid severity ISO
IAGP
IMP
ClinVar Annotator: match by term: Spherocytosis | 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
RGD
PMID:25741868 PMID:28492532 PMID:8640229 PMID:14671619 PMID:9054656 More... RGD:1578350, RGD:11251681, RGD:11251680, RGD:11041609, RGD:11251676, RGD:11251675, RGD:11251674 NCBI chr 8:23,464,852...23,640,517
Ensembl chr 8:23,464,860...23,640,513
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 5:31,211,964...31,235,823
Ensembl chr 5:31,212,124...31,235,823
JBrowse link
G Dhodh dihydroorotate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 8:110,319,876...110,335,330
Ensembl chr 8:110,317,975...110,335,305
JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar
RGD
PMID:1558976 RGD:1598910 NCBI chr 2:120,848,372...120,867,358
Ensembl chr 2:120,848,372...120,867,553
JBrowse link
G Klf1 Kruppel-like factor 1 (erythroid) IAGP
IEA
DNA:missense mutation:exon:p.E339D (1065A>T) (human) MouseDO
RGD
PMID:20691777 RGD:10769342 NCBI chr 8:85,628,611...85,631,920
Ensembl chr 8:85,628,557...85,631,924
JBrowse link
G Or10z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar NCBI chr 1:174,077,455...174,078,542
Ensembl chr 1:174,076,080...174,079,627
JBrowse link
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 ISO DNA:duplication:cds: (human)
ClinVar Annotator: match by term: Spherocytosis, Dominant
CTD Direct Evidence: marker/mechanism
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)
ClinVar
CTD
RGD
PMID:1378323 PMID:8282779 PMID:9326249 PMID:9207478 PMID:8547122 RGD:1599007, RGD:10450510, RGD:10450506, RGD:10450491 NCBI chr11:102,239,646...102,256,107
Ensembl chr11:102,239,650...102,257,029
JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 ISO
IAGP
DNA:polymorphisms:introns,exon:
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Recessive
DNA:deletion:cds:
ClinVar
RGD
PMID:8941647 PMID:15384986 PMID:24033266 PMID:25741868 PMID:27292444 More... RGD:11059521, RGD:11059522 NCBI chr 1:174,000,305...174,076,015
Ensembl chr 1:174,000,342...174,076,016
JBrowse link
G Sptb spectrin beta, erythrocytic ISO mRNA:decreased expression:erythrocyte:
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:8102379 PMID:19538529 PMID:25741868 PMID:28492532 PMID:19538529 RGD:11059526 NCBI chr12:76,627,262...76,757,321
Ensembl chr12:76,627,262...76,757,321
JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr16:33,775,152...33,787,408
Ensembl chr16:33,775,152...33,787,408
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 (beta) IEA OMIM:182900 MouseDO NCBI chr 6:86,005,663...86,101,391
Ensembl chr 6:86,005,663...86,101,391
JBrowse link
G Ank1 ankyrin 1, erythroid ISO
IEA
ClinVar Annotator: match by term: Hereditary spherocytosis type 1 | ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive
OMIM:182900
OMIM
ClinVar
MouseDO
PMID:1486040 PMID:7883994 PMID:8640229 PMID:9590147 PMID:11102985 More... NCBI chr 8:23,464,852...23,640,517
Ensembl chr 8:23,464,860...23,640,513
JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 IEA OMIM:182900 MouseDO NCBI chr 2:120,848,372...120,867,358
Ensembl chr 2:120,848,372...120,867,553
JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 IEA OMIM:182900 MouseDO NCBI chr 1:174,000,305...174,076,015
Ensembl chr 1:174,000,342...174,076,016
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 ClinVar Annotator: match by term: Hereditary spherocytosis type 2 OMIM
ClinVar
PMID:7883966 PMID:8844207 PMID:9714702 PMID:11703334 PMID:19538529 More... NCBI chr12:76,627,262...76,757,321
Ensembl chr12:76,627,262...76,757,321
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: Hereditary spherocytosis type 3 ClinVar NCBI chr 1:174,077,455...174,078,542
Ensembl chr 1:174,076,080...174,079,627
JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 ISO
IEA
ClinVar Annotator: match by term: Hereditary spherocytosis type 3 | ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive
OMIM:270970
OMIM
ClinVar
MouseDO
PMID:1638030 PMID:3785322 PMID:8081008 PMID:8370581 PMID:8941647 More... NCBI chr 1:174,000,305...174,076,015
Ensembl chr 1:174,000,342...174,076,016
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 (anion exchanger), member 1 ISO
IEA
ClinVar Annotator: match by term: Hereditary spherocytosis type 4 | ClinVar Annotator: match by term: Spherocytosis type 4
OMIM:612653
OMIM
ClinVar
MouseDO
PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 More... NCBI chr11:102,239,646...102,256,107
Ensembl chr11:102,239,650...102,257,029
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 ClinVar Annotator: match by term: Hereditary spherocytosis type 5 OMIM
ClinVar
PMID:1558976 PMID:2386772 PMID:7772513 PMID:7803799 PMID:8319790 More... NCBI chr 2:120,848,372...120,867,358
Ensembl chr 2:120,848,372...120,867,553
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 ClinVar Annotator: match by term: Hyperbiliverdinemia OMIM
ClinVar
PMID:19580635 PMID:21278388 PMID:25741868 NCBI chr 2:126,912,549...126,939,004
Ensembl chr 2:126,912,585...126,939,004
JBrowse link
Jaundice term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO associated with Biliary Atresia; protein:increased expression:serum RGD PMID:21356120 RGD:5686894 NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
JBrowse link
G Ccl25 chemokine (C-C motif) ligand 25 ISO mRNA:decreased expression:ileum RGD PMID:18592157 RGD:5130926 NCBI chr 8:4,375,207...4,410,020
Ensembl chr 8:4,375,210...4,410,020
JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Jaundice ClinVar PMID:24178751 PMID:25407461 PMID:25741868 PMID:26092869 PMID:28125082 More... NCBI chr15:8,198,509...8,300,642
Ensembl chr15:8,198,590...8,300,642
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO RGD PMID:8502229 RGD:11576308 NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107
JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO mRNA:decreased expression:liver RGD PMID:18442205 PMID:8502229 RGD:2303375, RGD:11576308 NCBI chr 9:57,584,220...57,590,938
Ensembl chr 9:57,584,220...57,590,986
JBrowse link
G Fech ferrochelatase ISO ClinVar Annotator: match by term: Jaundice ClinVar PMID:1729699 PMID:11753383 PMID:14669009 PMID:16385445 PMID:16958804 More... NCBI chr18:64,589,613...64,622,169
Ensembl chr18:64,585,985...64,623,322
JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO DNA:polymorphism:CDS:329C>G, amino acid H92Q RGD PMID:10870887 RGD:1600896
G Hbb-b2 hemoglobin, beta adult minor chain ISO RGD PMID:10870887 RGD:1600896
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:lung (rat) RGD PMID:19034056 RGD:4145521 NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase 1 family, polypeptide A1 treatment ISO RGD PMID:19585550 PMID:20323028 RGD:13432069, RGD:1354701 NCBI chr 1:88,139,681...88,147,724
Ensembl chr 1:88,139,681...88,146,719
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 chr 2:117,080,150...117,102,021
Ensembl chr 2:117,080,220...117,102,021
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 chr 2:117,110,464...117,173,358
Ensembl chr 2:117,110,474...117,173,482
JBrowse link
G Spred1 sprouty protein with EVH-1 domain 1, related sequence ISO ClinVar Annotator: match by term: Legius syndrome | ClinVar Annotator: match by term: Neurofibromatosis type 1 like syndrome OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17704776 PMID:19366998 More... NCBI chr 2:116,951,552...117,012,760
Ensembl chr 2:116,951,855...117,012,760
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, sub-family B (MDR/TAP), member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22022477 NCBI chr 5:8,943,614...9,009,226
Ensembl chr 5:8,943,717...9,009,231
JBrowse link
G Adm adrenomedullin ISO protein:increased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr 7:110,226,864...110,229,027
Ensembl chr 7:110,226,868...110,229,027
JBrowse link
G Alb albumin ISO RGD PMID:9161836 RGD:11036102 NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 treatment ISO RGD PMID:15573249 RGD:8549649 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
JBrowse link
G Cd14 CD14 antigen ISO mRNA:increased expression:ileum, liver, lung, spleen RGD PMID:25093541 RGD:9685190 NCBI chr18:36,858,117...36,859,868
Ensembl chr18:36,858,120...36,859,851
JBrowse link
G Cfh complement component factor h ISO protein:decreased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO Protein:increased activity:liver (rat) RGD PMID:3963818 RGD:4144803 NCBI chr 9:44,247,645...44,255,525
Ensembl chr 9:44,247,636...44,255,525
JBrowse link
G Hmgb1 high mobility group box 1 ISO protein:increased expression:liver, plasma RGD PMID:21737101 RGD:10402168 NCBI chr 5:148,983,512...148,989,867
Ensembl chr 5:148,983,512...149,121,299
JBrowse link
G Irf5 interferon regulatory factor 5 ISO mRNA,protein:increased expression:liver,nucleus: RGD PMID:21737101 RGD:10402168 NCBI chr 6:29,526,129...29,541,874
Ensembl chr 6:29,526,624...29,541,870
JBrowse link
G Lbp lipopolysaccharide binding protein ISO mRNA:increased expression:liver RGD PMID:25093541 RGD:9685190 NCBI chr 2:158,148,413...158,174,772
Ensembl chr 2:158,148,413...158,174,772
JBrowse link
G Pcna proliferating cell nuclear antigen treatment ISO RGD PMID:12917765 RGD:10448973 NCBI chr 2:132,091,206...132,095,100
Ensembl chr 2:132,091,082...132,095,234
JBrowse link
G Tlr2 toll-like receptor 2 treatment IEP RGD PMID:29366780 RGD:15090858 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
JBrowse link
G Ucp2 uncoupling protein 2 (mitochondrial, proton carrier) ISO RGD PMID:19632092 RGD:7204429 NCBI chr 7:100,142,544...100,148,836
Ensembl chr 7:100,142,544...100,151,227
JBrowse link
Posttransfusion Purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb3 integrin beta 3 ISO ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM OMIM
ClinVar
PMID:1430225 PMID:9787162 PMID:14516468 PMID:21658138 PMID:25741868 More... NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302
JBrowse link
Pruritus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pruritus
CTD
ClinVar
PMID:15300568 PMID:17855769 PMID:18049162 PMID:25741868 PMID:28492532 More... NCBI chr 2:69,068,626...69,172,960
Ensembl chr 2:69,068,626...69,172,960
JBrowse link
G Ahr aryl-hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr12:35,547,978...35,584,988
Ensembl chr12:35,547,973...35,585,037
JBrowse link
G Artn artemin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr 4:117,783,105...117,787,993
Ensembl chr 4:117,783,359...117,786,960
JBrowse link
G F2rl1 coagulation factor II (thrombin) receptor-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19712758 NCBI chr13:95,648,226...95,661,748
Ensembl chr13:95,648,240...95,661,735
JBrowse link
G Grk2 G protein-coupled receptor kinase 2 severity IMP RGD PMID:29530536 RGD:13513974 NCBI chr19:4,336,027...4,356,350
Ensembl chr19:4,336,029...4,356,250
JBrowse link
G Grp gastrin releasing peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:29669290 NCBI chr18:66,005,826...66,019,670
Ensembl chr18:66,005,891...66,019,667
JBrowse link
G Hrh1 histamine receptor H1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652466 NCBI chr 6:114,374,897...114,460,259
Ensembl chr 6:114,374,897...114,460,257
JBrowse link
G Hrh4 histamine receptor H4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652466 NCBI chr18:13,140,039...13,156,758
Ensembl chr18:13,140,047...13,155,939
JBrowse link
G Nmb neuromedin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29669290 NCBI chr 7:80,551,975...80,554,810
Ensembl chr 7:80,551,975...80,554,824
JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27192616 NCBI chr10:6,708,593...6,988,209
Ensembl chr10:6,708,506...6,988,198
JBrowse link
G Pdyn prodynorphin ISO CTD Direct Evidence: marker/mechanism CTD PMID:29669290 NCBI chr 2:129,528,469...129,541,858
Ensembl chr 2:129,528,485...129,541,764
JBrowse link
G Scn9a sodium channel, voltage-gated, type IX, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24820863 NCBI chr 2:66,310,424...66,465,456
Ensembl chr 2:66,310,424...66,465,306
JBrowse link
G Tac1 tachykinin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652466 NCBI chr 6:7,555,061...7,562,978
Ensembl chr 6:7,554,879...7,565,834
JBrowse link
G Tpsab1 tryptase alpha/beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27749843 NCBI chr17:25,562,219...25,564,536
Ensembl chr17:25,562,219...25,564,536
JBrowse link
purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il13 interleukin 13 susceptibility ISO associated withe Sjogren's Syndrome;DNA:SNP:cds:2044 G>A(human) RGD PMID:16166103 RGD:11528572 NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
JBrowse link
purpura fulminans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Proc protein C ISO CTD Direct Evidence: marker/mechanism CTD PMID:18376272 NCBI chr18:32,256,179...32,272,623
Ensembl chr18:32,256,179...32,272,623
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 NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913
JBrowse link
Thrombocytopenic Purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp9 glycoprotein 9 (platelet) ISO RGD PMID:23103637 RGD:11040532 NCBI chr 6:87,753,115...87,756,768
Ensembl chr 6:87,755,054...87,756,750
JBrowse link
G Itga2b integrin alpha 2b IDA RGD PMID:11493456 RGD:2316362 NCBI chr11:102,344,123...102,360,709
Ensembl chr11:102,344,123...102,360,948
JBrowse link
G Itgb3 integrin beta 3 IMP
ISO
associated with HIV Infections RGD PMID:11493456 PMID:8565280 RGD:2316362, RGD:10755471 NCBI chr11:104,498,826...104,561,302
Ensembl chr11:104,498,826...104,561,302
JBrowse link
G Vwf Von Willebrand factor ISO RGD PMID:14727254 RGD:1580644 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642
JBrowse link
thrombotic thrombocytopenic purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 13 ISO
IMP
ClinVar Annotator: match by term: Thrombotic thrombocytopenic purpura | ClinVar Annotator: match by term: Upshaw-Schulman syndrome
CTD Direct Evidence: marker/mechanism
Adult Onset Purpura, Thrombotic Thrombocytopenic;DNA:missense mutation:cds:p.R1060W (human)
DNA:mutations:multiple (human)
protein:decreased activity:plasma (human)
OMIM
ClinVar
CTD
RGD
PMID:6433703 PMID:7094941 PMID:9536098 PMID:11563771 PMID:11586351 More... RGD:10449043, RGD:1598736, RGD:10449037, RGD:10449028 NCBI chr 2:26,863,363...26,899,638
Ensembl chr 2:26,863,428...26,899,640
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:7529543 RGD:11041104 NCBI chr 5:17,986,688...18,093,957
Ensembl chr 5:17,986,688...18,093,799
JBrowse link
G F3 coagulation factor III ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO DNA:polymorphisms:cds:HLA-DQB1*0301 (human) RGD PMID:19922436 RGD:11041754 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
JBrowse link
G Proc protein C ISO RGD PMID:10936861 RGD:11100014 NCBI chr18:32,256,179...32,272,623
Ensembl chr18:32,256,179...32,272,623
JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:7740478 PMID:7740478 RGD:11340214 NCBI chr 2:84,263,199...84,307,119
Ensembl chr 2:84,263,199...84,307,119
JBrowse link
G Thbd thrombomodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108
JBrowse link
Thrombotic Thrombocytopenic Purpura, Acquired term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 a disintegrin-like and metallopeptidase (reprolysin type) 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 2:26,863,363...26,899,638
Ensembl chr 2:26,863,428...26,899,640
JBrowse link
G Vwf Von Willebrand factor treatment ISO RGD PMID:26863353 RGD:11079195 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642
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 ClinVar Annotator: match by term: Trichohepatoneurodevelopmental syndrome OMIM
ClinVar
PMID:25741868 PMID:30401460 NCBI chr11:106,090,086...106,107,349
Ensembl chr11:106,088,234...106,107,170
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 ClinVar Annotator: match by term: Café-au-lait macules with pulmonary stenosis | ClinVar Annotator: match by term: Pulmonic stenosis with cafe-au-lait spots OMIM
ClinVar
PMID:190611 PMID:1302608 PMID:1568246 PMID:7655472 PMID:7904209 More... NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15270
    Pathological Conditions, Signs and Symptoms 10463
      Signs and Symptoms 6741
        Skin Manifestations 124
          Cafe-au-Lait Spots + 9
          Cellulite 0
          Ecchymosis 0
          Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 1
          Jaundice + 35
          Livedo Reticularis + 12
          Necrolytic Migratory Erythema 0
          Pallor 0
          Pruritus + 15
          Striae Distensae + 1
          purpura + 55
paths to the root