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 Cd59b CD59b antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:31618666 NCBI chr 2:104,069,781...104,085,790
Ensembl chr 2:104,069,849...104,091,187
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 2:26,973,361...27,009,625
Ensembl chr 2:26,973,416...27,009,628
JBrowse link
G Alb albumin ISO RGD PMID:6683982 RGD:11036083 NCBI chr 5:90,460,870...90,476,602
Ensembl chr 5:90,460,897...90,476,602
JBrowse link
G Cd40 CD40 antigen ISO protein:increased expression:peripheral blood, B lymphocyte (human) RGD PMID:17654056 RGD:11344977 NCBI chr 2:165,055,614...165,071,654
Ensembl chr 2:165,055,627...165,072,948
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:57,212,143...57,224,042
Ensembl chr  X:57,212,143...57,224,042
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 chr16:36,568,956...36,666,158
Ensembl chr16:36,603,869...36,666,081
JBrowse link
G Dnmt3a DNA methyltransferase 3A ISO mRNA:decreased expression:mononuclear cell RGD PMID:18683034 RGD:9588662 NCBI chr12:3,801,559...3,914,443
Ensembl chr12:3,806,007...3,914,443
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 2:153,649,411...153,687,730
Ensembl chr 2:153,649,450...153,687,730
JBrowse link
G Fas Fas (TNF receptor superfamily member 6) ISO protein:increased expression:serum: RGD PMID:10776692 RGD:11049162 NCBI chr19:34,290,647...34,327,775
Ensembl chr19:34,290,666...34,327,772
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 1:170,960,558...170,976,071
Ensembl chr 1:170,958,617...170,976,547
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 1:171,051,169...171,065,915
Ensembl chr 1:171,051,174...171,064,935
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 1:171,018,926...171,029,761
Ensembl chr 1:171,018,920...171,029,761
JBrowse link
G Gp1ba glycoprotein 1b, alpha polypeptide IMP RGD PMID:16861348 RGD:10450841 NCBI chr11:70,639,102...70,643,986
Ensembl chr11:70,639,122...70,642,036
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 chr17:34,263,227...34,269,418
Ensembl chr17:34,257,689...34,269,419
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 chr17:34,305,867...34,316,674
Ensembl chr17:34,305,867...34,316,674
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 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:plasma: RGD PMID:24801815 RGD:11073600 NCBI chr 9:50,554,700...50,581,841
Ensembl chr 9:50,554,827...50,581,840
JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-899C>T (human) RGD PMID:21591983 RGD:11051966 NCBI chr 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO DNA:repeats:: RGD PMID:20626741 RGD:11528541 NCBI chr 2:24,336,860...24,351,491
Ensembl chr 2:24,336,853...24,351,494
JBrowse link
G Il2 interleukin 2 susceptibility ISO DNA:polymorphism::-330T>G(human) RGD PMID:20626741 RGD:11528541 NCBI chr 3:37,120,713...37,125,954
Ensembl chr 3:37,120,523...37,125,959
JBrowse link
G Il4 interleukin 4 disease_progression ISO DNA:repeat:intron RGD PMID:25051072 RGD:11041894 NCBI chr11:53,612,460...53,618,665
Ensembl chr11:53,602,982...53,618,669
JBrowse link
G Itgb3 integrin beta 3 ISO
IMP
RGD PMID:10936026, PMID:24258817 RGD:10755473, RGD:10755475 NCBI chr11:104,608,000...104,670,476
Ensembl chr11:104,608,000...104,670,476
JBrowse link
G Mir130a microRNA 130a ISO RNA:decreased expression:PBMC RGD PMID:24801815 RGD:11073600 NCBI chr 2:84,741,115...84,741,178
Ensembl chr 2:84,741,115...84,741,178
JBrowse link
G Mir409 microRNA 409 treatment ISO RGD PMID:23360331 RGD:10755694 NCBI chr12:109,743,158...109,743,236
Ensembl chr12:109,743,158...109,743,236
JBrowse link
G Plat plasminogen activator, tissue ISO protein:increased expression:plasma (human) RGD PMID:2129164 RGD:11541072 NCBI chr 8:22,757,722...22,782,848
Ensembl chr 8:22,757,727...22,782,844
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 3:103,856,575...103,912,252
Ensembl chr 3:103,859,795...103,912,247
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Autoimmune thrombocytopenia ClinVar NCBI chr16:10,783,808...10,785,536
Ensembl chr16:10,782,240...10,785,536
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 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
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 Kirsten rat sarcoma viral oncogene homolog ISO ClinVar Annotator: match by term: Multiple cafe-au-lait spots ClinVar PMID:30311386 NCBI chr 6:145,216,699...145,250,420
Ensembl chr 6:145,216,699...145,250,239
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 chr17:87,672,532...87,723,713
Ensembl chr17:87,672,330...87,723,713
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Multiple cafe-au-lait spots
ClinVar Annotator: match by term: Cafe au lait spots, multiple
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 chr11:79,339,590...79,581,609
Ensembl chr11:79,339,693...79,581,612
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Multiple cafe-au-lait spots ClinVar PMID:30311386 NCBI chr14:73,192,858...73,325,951
Ensembl chr14:73,183,673...73,325,822
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 chr17:80,393,752...80,480,453
Ensembl chr17:80,393,751...80,480,453
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Multiple cafe-au-lait spots ClinVar PMID:30311386 NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020
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:69,360,190...69,872,054
Ensembl chr  X:69,360,294...69,868,037
JBrowse link
G Aldob aldolase B, fructose-bisphosphate 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 chr 4:49,535,993...49,549,546
Ensembl chr 4:49,535,995...49,549,546
JBrowse link
G Atp1a3 ATPase, Na+/K+ transporting, alpha 3 polypeptide 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 7:24,978,167...25,006,077
Ensembl chr 7:24,978,167...25,005,958
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 chr 8:84,132,828...84,147,917
Ensembl chr 8:84,132,828...84,147,936
JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:30311386 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Cafe-au-lait spots ClinVar PMID:30311386 NCBI chr 5:134,702,595...134,747,368
Ensembl chr 5:134,702,593...134,747,323
JBrowse link
G Ethe1 ethylmalonic encephalopathy 1 ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:28933811, PMID:30311386 NCBI chr 7:24,587,543...24,608,925
Ensembl chr 7:24,587,543...24,608,925
JBrowse link
G Gnas GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:1594625, PMID:1944469 NCBI chr 2:174,284,320...174,346,744
Ensembl chr 2:174,284,320...174,346,744
JBrowse link
G Lamb1 laminin B1 ISO ClinVar Annotator: match by term: Cafe-au-lait spots ClinVar PMID:30311386 NCBI chr12:31,265,146...31,329,644
Ensembl chr12:31,265,234...31,329,644
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 chr11:79,339,590...79,581,609
Ensembl chr11:79,339,693...79,581,612
JBrowse link
G Notch3 notch 3 ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:30311386 NCBI chr17:32,120,820...32,166,896
Ensembl chr17:32,120,820...32,166,852
JBrowse link
G Pms2 PMS1 homolog2, mismatch repair system component ISO CTD Direct Evidence: marker/mechanism CTD PMID:15077197 NCBI chr 5:143,909,901...143,972,745
Ensembl chr 5:143,909,964...143,933,968
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 chr 5:121,130,533...121,191,397
Ensembl chr 5:121,130,533...121,191,397
JBrowse link
G Sik1 salt inducible kinase 1 ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:30311386 NCBI chr17:31,844,248...31,855,804
Ensembl chr17:31,844,250...31,855,804
JBrowse link
G Spred1 sprouty protein with EVH-1 domain 1, related sequence ISO CTD Direct Evidence: marker/mechanism CTD PMID:17704776 NCBI chr 2:117,121,071...117,182,279
Ensembl chr 2:117,121,374...117,182,279
JBrowse link
G Tek TEK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:30311386 NCBI chr 4:94,739,086...94,874,976
Ensembl chr 4:94,739,289...94,874,976
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 chr17:24,595,816...24,632,676
Ensembl chr17:24,595,816...24,632,630
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 chr19:43,782,308...43,838,332
Ensembl chr19:43,782,192...43,840,740
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 3:118,562,109...119,432,924
Ensembl chr 3:118,562,129...119,432,924
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 3:108,012,250...108,017,973
Ensembl chr 3:108,012,255...108,017,973
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 chr10:75,783,813...75,798,584
Ensembl chr10:75,783,813...75,798,584
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 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
JBrowse link
G Il1b interleukin 1 beta treatment ISO associated with Glioblastoma; RGD PMID:1331350 RGD:10450883 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Pecam1 platelet/endothelial cell adhesion molecule 1 severity ISO
IMP
RGD PMID:10942385, PMID:17234740 RGD:11541093, RGD:11541120 NCBI chr11:106,654,213...106,715,281
Ensembl chr11:106,654,217...106,750,628
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 ClinVar
OMIM
PMID:21157497, PMID:23230001, PMID:23263490, PMID:23447401, PMID:23636398, PMID:24033266, PMID:25079317, PMID:25529843, PMID:25559809, PMID:25642631, PMID:25741868, PMID:25860647, PMID:25948378, PMID:26467025, PMID:26822575, PMID:28492532, PMID:29120461, PMID:29987844, PMID:30049826, PMID:30194485 NCBI chr 5:110,286,319...110,337,468
Ensembl chr 5:110,286,306...110,337,474
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
ClinVar Annotator: match by OMIM:611788
OMIM
ClinVar
PMID:10532176, PMID:13129918, PMID:14730227, PMID:15138499, PMID:15472996, PMID:17994018, PMID:19409525, PMID:19639654, PMID:20689142, PMID:20734336, PMID:20970362, PMID:21212136, PMID:21248741, PMID:21288906, PMID:21733706, PMID:21937134, PMID:22302747, PMID:22543189, PMID:22752479, PMID:22790431, PMID:22831780, PMID:22946110, PMID:23099432, PMID:23253043, PMID:23613326, PMID:24020716, PMID:24033266, PMID:24243736, PMID:24293535, PMID:24621862, PMID:24793577, PMID:24998021, PMID:25326635, PMID:25644172, PMID:25741868, PMID:25759435, PMID:25944730, PMID:26034244, PMID:26153420, PMID:26188975, PMID:26637293, PMID:27176728, PMID:27481187, PMID:27549731, PMID:27551047, PMID:27567161, PMID:27611364, PMID:28492532, PMID:28659821, PMID:28855619, PMID:29300374, PMID:29687370, PMID:29907982, PMID:30311386 NCBI chr19:34,240,336...34,255,585
Ensembl chr19:34,241,090...34,255,590
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 NCBI chr 2:125,300,594...125,506,485
Ensembl chr 2:125,300,594...125,507,993
JBrowse link
G Myh11 myosin, heavy polypeptide 11, smooth muscle 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 chr16:14,194,527...14,292,188
Ensembl chr16:14,194,535...14,291,372
JBrowse link
G Mylk myosin, light polypeptide kinase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:24033266, PMID:25637381, PMID:25741868, PMID:28492532 NCBI chr16:34,745,199...35,002,436
Ensembl chr16:34,745,210...35,002,420
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 chr16:14,163,275...14,192,928
Ensembl chr16:14,163,275...14,192,928
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 2:165,503,897...165,519,917
Ensembl chr 2:165,503,787...165,519,917
JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 NCBI chr 9:63,646,766...63,757,994
Ensembl chr 9:63,646,767...63,757,994
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:27879313, 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 chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
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 8:124,556,587...124,569,706
Ensembl chr 8:124,556,534...124,569,706
JBrowse link
G C3 complement component 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1353212 NCBI chr17:57,203,967...57,228,136
Ensembl chr17:57,203,970...57,228,136
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 chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Cd86 CD86 antigen treatment ISO protein:increased expression:venous blood, B cell (human) RGD PMID:27030970 RGD:11354986 NCBI chr16:36,568,956...36,666,158
Ensembl chr16:36,603,869...36,666,081
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 chr17:34,282,744...34,287,823
Ensembl chr17:34,282,744...34,287,823
JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chr 8:75,093,618...75,100,593
Ensembl chr 8:75,093,621...75,100,589
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chr10:87,858,265...87,937,047
Ensembl chr10:87,858,265...87,937,042
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 2:24,336,860...24,351,491
Ensembl chr 2:24,336,853...24,351,494
JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:serum RGD PMID:16787590 RGD:11354946 NCBI chr11:53,720,794...53,725,103
Ensembl chr11:53,720,794...53,725,106
JBrowse link
G Kng2 kininogen 2 ISO protein:increased expression:serum RGD PMID:26098644 RGD:11059888 NCBI chr16:22,985,852...23,029,101
Ensembl chr16:22,985,854...23,029,482
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 chr16:3,706,974...3,718,211
Ensembl chr16:3,707,218...3,718,097
JBrowse link
G Plat plasminogen activator, tissue ISO protein:increased expression:plasma (human) RGD PMID:9543574 RGD:11541055 NCBI chr 8:22,757,722...22,782,848
Ensembl chr 8:22,757,727...22,782,844
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:9002298, PMID:12671112 NCBI chr14:20,836,662...20,843,388
Ensembl chr14:20,836,660...20,843,385
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 Fcgr3 Fc receptor, IgG, low affinity III ISO RGD PMID:8772238 RGD:11040889 NCBI chr 1:171,051,169...171,065,915
Ensembl chr 1:171,051,174...171,064,935
JBrowse link
G Fcgr4 Fc receptor, IgG, low affinity IV susceptibility ISO DNA:SNP:cds:p.V158F(human) RGD PMID:15191947 RGD:11040991 NCBI chr 1:171,018,926...171,029,761
Ensembl chr 1:171,018,920...171,029,761
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 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
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, Dominant
DNA:deletion mutation:exon:
DNA:deletion:cds:
DNA:mutation: :
DNA:transversion mutation:splice site:1674G>C(mouse)
DNA:transition mutation:intron:
DNA:mutation:exon:p.E924X(mouse)
ClinVar PMID:8640229, PMID:14671619, PMID:9054656, PMID:23390527, PMID:19179303, PMID:23934996, PMID:21193012 RGD:1578350, RGD:11251681, RGD:11251680, RGD:11041609, RGD:11251676, RGD:11251675, RGD:11251674 NCBI chr 8:22,974,836...23,150,501
Ensembl chr 8:22,974,844...23,150,497
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 5:31,054,620...31,078,479
Ensembl chr 5:31,054,780...31,078,479
JBrowse link
G Dhodh dihydroorotate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 8:109,593,244...109,608,699
Ensembl chr 8:109,591,343...109,608,673
JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar PMID:1558976 RGD:1598910 NCBI chr 2:121,017,891...121,036,877
Ensembl chr 2:121,017,891...121,037,072
JBrowse link
G Klf1 Kruppel-like factor 1 (erythroid) IAGP
IEA
DNA:missense mutation:exon:p.E339D (1065A>T) (human) MouseDO PMID:20691777 RGD:10769342 NCBI chr 8:84,901,982...84,905,291
Ensembl chr 8:84,901,928...84,905,291
Ensembl chr 8:84,901,928...84,905,291
JBrowse link
G Olfr419 olfactory receptor 419 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar NCBI chr 1:174,249,889...174,250,976
Ensembl chr 1:174,248,514...174,252,061
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
PMID:1378323, PMID:8282779, PMID:9326249, PMID:9207478, PMID:8547122 RGD:1599007, RGD:10450510, RGD:10450506, RGD:10450491 NCBI chr11:102,348,820...102,365,281
Ensembl chr11:102,348,824...102,366,203
JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 ISO
IAGP
DNA:polymorphisms:introns,exon:
ClinVar Annotator: match by term: Spherocytosis, Recessive
DNA:deletion:cds:
ClinVar PMID:28492532, PMID:15384986, PMID:11920196 RGD:11059521, RGD:11059522 NCBI chr 1:174,172,739...174,248,449
Ensembl chr 1:174,172,776...174,248,450
JBrowse link
G Sptb spectrin beta, erythrocytic ISO mRNA:decreased expression:erythrocyte:
ClinVar Annotator: match by term: Spherocytosis, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8102379, PMID:19538529, PMID:25741868, PMID:28492532, PMID:19538529 RGD:11059526 NCBI chr12:76,580,488...76,710,547
Ensembl chr12:76,580,488...76,710,547
JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr16:33,954,782...33,967,038
Ensembl chr16:33,954,782...33,967,038
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 6:86,028,681...86,124,409
Ensembl chr 6:86,028,681...86,124,409
JBrowse link
G Ank1 ankyrin 1, erythroid ISO
IEA
ClinVar Annotator: match by term: SPHEROCYTOSIS, HEREDITARY, 1
ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive
OMIM:182900
ClinVar Annotator: match by OMIM:182900
OMIM
ClinVar
MouseDO
PMID:1486040, PMID:7883994, PMID:8640229, PMID:9590147, PMID:11102985, PMID:11167760, PMID:12899723, PMID:15071790, PMID:16037067, PMID:17327413, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 8:22,974,836...23,150,501
Ensembl chr 8:22,974,844...23,150,497
JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 IEA OMIM:182900 MouseDO NCBI chr 2:121,017,891...121,036,877
Ensembl chr 2:121,017,891...121,037,072
JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 IEA OMIM:182900 MouseDO NCBI chr 1:174,172,739...174,248,449
Ensembl chr 1:174,172,776...174,248,450
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: Spherocytosis type 2
ClinVar Annotator: match by term: Spectrin kissimmee
ClinVar Annotator: match by term: Spectrin durham
ClinVar
OMIM
PMID:1385736, PMID:3654760, PMID:6215583, PMID:7883966, PMID:8102379, PMID:8844207, PMID:9414314, PMID:9714702, PMID:11703334, PMID:19538529, PMID:25741868 NCBI chr12:76,580,488...76,710,547
Ensembl chr12:76,580,488...76,710,547
JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Olfr419 olfactory receptor 419 ISO ClinVar Annotator: match by term: Spherocytosis type 3 ClinVar NCBI chr 1:174,249,889...174,250,976
Ensembl chr 1:174,248,514...174,252,061
JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 ISO
IEA
ClinVar Annotator: match by term: Spherocytosis type 3
OMIM:270970
ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive
ClinVar Annotator: match by OMIM:270970
OMIM
ClinVar
MouseDO
PMID:1638030, PMID:3785322, PMID:8081008, PMID:8370581, PMID:8941647, PMID:15071791, PMID:21212007, PMID:23241237, PMID:24033266, PMID:25741868, PMID:26002053, PMID:27667160, PMID:28492532, PMID:30311386, PMID:32581362 NCBI chr 1:174,172,739...174,248,449
Ensembl chr 1:174,172,776...174,248,450
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: Spherocytosis type 4
OMIM:612653
ClinVar Annotator: match by OMIM:612653
OMIM
ClinVar
MouseDO
PMID:893429, PMID:1378323, PMID:1419785, PMID:1520883, PMID:1678289, PMID:1696010, PMID:2146504, PMID:2196932, PMID:2527366, PMID:7530501, PMID:7812009, PMID:8011524, PMID:8206915, PMID:8282779, PMID:8343110, PMID:8471774, PMID:8547122, PMID:8567957, PMID:8608262, PMID:8704215, PMID:9207478, PMID:9312167, PMID:9734643, PMID:9973643, PMID:10745622, PMID:10942416, PMID:11155072, PMID:11380459, PMID:16227998, PMID:19229254, PMID:21039340, PMID:23255290, PMID:24033266, PMID:25111073, PMID:25296721, PMID:25741868, PMID:26571219, PMID:26879370, PMID:28492532 NCBI chr11:102,348,820...102,365,281
Ensembl chr11:102,348,824...102,366,203
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: Spherocytosis type 5
ClinVar Annotator: match by OMIM:612690
OMIM
ClinVar
PMID:1558976, PMID:2386772, PMID:7772513, PMID:7803799, PMID:8319790, PMID:8528207, PMID:10406914, PMID:12176912, PMID:19508687, PMID:25741868, PMID:28492532 NCBI chr 2:121,017,891...121,036,877
Ensembl chr 2:121,017,891...121,037,072
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 OMIM:614156 OMIM
ClinVar
PMID:19580635, PMID:21278388 NCBI chr 2:127,070,629...127,097,084
Ensembl chr 2:127,070,665...127,097,084
JBrowse link
Jaundice 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 ISO ClinVar Annotator: match by term: Icterus ClinVar PMID:30311386 NCBI chr19:43,782,308...43,838,332
Ensembl chr19:43,782,192...43,840,740
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 chr16:23,146,536...23,157,968
Ensembl chr16:23,146,536...23,158,028
JBrowse link
G Ccl25 chemokine (C-C motif) ligand 25 ISO mRNA:decreased expression:ileum RGD PMID:18592157 RGD:5130926 NCBI chr 8:4,325,205...4,360,020
Ensembl chr 8:4,325,210...4,360,020
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 chr15:8,169,025...8,271,158
Ensembl chr15:8,169,106...8,271,158
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO RGD PMID:8502229 RGD:11576308 NCBI chr 9:57,687,928...57,703,824
Ensembl chr 9:57,687,928...57,703,824
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 9:57,676,937...57,683,655
Ensembl chr 9:57,676,937...57,683,703
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 chr18:64,456,542...64,489,098
Ensembl chr18:64,452,914...64,490,251
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 9:21,015,940...21,028,814
Ensembl chr 9:21,015,985...21,028,817
JBrowse link
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 ISO ClinVar Annotator: match by term: Icterus ClinVar PMID:30311386 NCBI chr11:102,348,820...102,365,281
Ensembl chr11:102,348,824...102,366,203
JBrowse link
G Spta1 spectrin alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Icterus ClinVar PMID:30311386 NCBI chr 1:174,172,739...174,248,449
Ensembl chr 1:174,172,776...174,248,450
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase 1 family, polypeptide A1 treatment ISO RGD PMID:19585550 RGD:13432069 NCBI chr 1:88,211,959...88,220,002
Ensembl chr 1:88,211,959...88,218,997
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 2:117,249,713...117,271,540
Ensembl chr 2:117,249,739...117,271,540
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 2:117,279,983...117,342,877
Ensembl chr 2:117,279,993...117,343,001
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 OMIM:611431
OMIM
ClinVar
PMID:3128965, PMID:11493923, PMID:15683364, PMID:17704776, PMID:19366998, PMID:19443465, PMID:19920235, PMID:20179001, PMID:20339110, PMID:21089071, PMID:21495177, PMID:21548021, PMID:21649642, PMID:22751498, PMID:22753041, PMID:24033266, PMID:24334617, PMID:24469042, PMID:25074460, PMID:25741868, PMID:25883013, PMID:25981987, PMID:26214305, PMID:26635368, PMID:27081556, PMID:27763634, PMID:28150585, PMID:28492532, PMID:28747691 NCBI chr 2:117,121,071...117,182,279
Ensembl chr 2:117,121,374...117,182,279
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 5:8,893,614...8,959,226
Ensembl chr 5:8,893,717...8,959,231
JBrowse link
G Adm adrenomedullin ISO protein:increased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr 7:110,627,657...110,629,820
Ensembl chr 7:110,627,661...110,629,820
JBrowse link
G Alb albumin ISO RGD PMID:9161836 RGD:11036102 NCBI chr 5:90,460,870...90,476,602
Ensembl chr 5:90,460,897...90,476,602
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 treatment ISO RGD PMID:15573249 RGD:8549649 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Cd14 CD14 antigen ISO mRNA:increased expression:ileum, liver, lung, spleen RGD PMID:25093541 RGD:9685190 NCBI chr18:36,725,064...36,726,815
Ensembl chr18:36,725,067...36,726,798
JBrowse link
G Cfh complement component factor h ISO protein:decreased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr 1:140,085,855...140,183,411
Ensembl chr 1:140,084,708...140,183,764
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO Protein:increased activity:liver (rat) RGD PMID:3963818 RGD:4144803 NCBI chr 9:44,336,348...44,344,228
Ensembl chr 9:44,336,339...44,344,228
JBrowse link
G Lbp lipopolysaccharide binding protein ISO mRNA:increased expression:liver RGD PMID:25093541 RGD:9685190 NCBI chr 2:158,306,493...158,332,852
Ensembl chr 2:158,306,493...158,332,852
JBrowse link
G Pcna proliferating cell nuclear antigen treatment ISO RGD PMID:12917765 RGD:10448973 NCBI chr 2:132,249,286...132,253,180
Ensembl chr 2:132,249,162...132,253,314
JBrowse link
G Tlr2 toll-like receptor 2 treatment IEP RGD PMID:29366780 RGD:15090858 NCBI chr 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
JBrowse link
G Ucp2 uncoupling protein 2 (mitochondrial, proton carrier) ISO RGD PMID:19632092 RGD:7204429 NCBI chr 7:100,493,337...100,499,629
Ensembl chr 7:100,493,337...100,502,020
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:28492532 NCBI chr11:104,608,000...104,670,476
Ensembl chr11:104,608,000...104,670,476
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: 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 chr 2:69,238,282...69,342,616
Ensembl chr 2:69,238,282...69,342,616
JBrowse link
G Abcb4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 ISO ClinVar Annotator: match by term: Itching ClinVar PMID:30311386 NCBI chr 5:8,893,614...8,959,226
Ensembl chr 5:8,893,717...8,959,231
JBrowse link
G Ahr aryl-hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr12:35,497,979...35,534,989
Ensembl chr12:35,497,974...35,535,038
JBrowse link
G Artn artemin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr 4:117,925,908...117,930,795
Ensembl chr 4:117,926,162...117,929,763
JBrowse link
G F2rl1 coagulation factor II (thrombin) receptor-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19712758 NCBI chr13:95,511,718...95,525,240
Ensembl chr13:95,511,732...95,525,227
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Itching ClinVar PMID:30311386 NCBI chr 2:125,300,594...125,506,485
Ensembl chr 2:125,300,594...125,507,993
JBrowse link
G Grk2 G protein-coupled receptor kinase 2 severity IMP RGD PMID:29530536 RGD:13513974 NCBI chr19:4,285,999...4,306,222
Ensembl chr19:4,286,001...4,306,222
JBrowse link
G Grp gastrin releasing peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:29669290 NCBI chr18:65,872,751...65,886,599
Ensembl chr18:65,872,820...65,886,596
JBrowse link
G Hrh1 histamine receptor H1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652466 NCBI chr 6:114,397,936...114,483,298
Ensembl chr 6:114,397,936...114,483,296
JBrowse link
G Hrh4 histamine receptor H4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652466 NCBI chr18:13,006,982...13,023,701
Ensembl chr18:13,006,990...13,022,882
JBrowse link
G Nmb neuromedin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29669290 NCBI chr 7:80,902,227...80,905,062
Ensembl chr 7:80,902,227...80,905,076
JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27192616 NCBI chr10:6,758,593...7,038,209
Ensembl chr10:6,758,506...7,038,198
JBrowse link
G Pdyn prodynorphin ISO CTD Direct Evidence: marker/mechanism CTD PMID:29669290 NCBI chr 2:129,686,549...129,699,938
Ensembl chr 2:129,686,565...129,699,844
JBrowse link
G Scn9a sodium channel, voltage-gated, type IX, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24820863 NCBI chr 2:66,480,080...66,635,114
Ensembl chr 2:66,480,080...66,634,962
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 chr17:25,343,245...25,345,562
Ensembl chr17:25,343,245...25,345,562
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 chr10:100,487,548...100,575,671
Ensembl chr10:100,487,558...100,574,840
JBrowse link
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chr14:52,198,151...52,258,042
Ensembl chr14:52,198,151...52,257,780
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:157,821,430...158,044,458
Ensembl chr  X:157,821,436...158,043,294
JBrowse link
G Dst dystonin ISO ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chr 1:33,907,888...34,308,662
Ensembl chr 1:33,908,225...34,308,661
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 chr11:53,631,323...53,634,702
Ensembl chr11:53,631,324...53,634,702
JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Purpura ClinVar PMID:25741868, PMID:28259615, PMID:28492532, PMID:30311386 NCBI chr 7:29,003,340...29,125,179
Ensembl chr 7:29,003,344...29,125,179
JBrowse link
G Slc1a1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 ISO ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chr19:28,835,135...28,913,960
Ensembl chr19:28,835,049...28,913,960
JBrowse link
G Spata6l spermatogenesis associated 6 like ISO ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chr19:28,917,638...28,967,832
Ensembl chr19:28,893,042...28,967,800
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Purpura ClinVar PMID:30311386 NCBI chr 8:114,439,635...115,352,712
Ensembl chr 8:114,439,655...115,352,708
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 chr18:32,123,126...32,139,570
Ensembl chr18:32,123,126...32,139,570
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 chr 2:125,300,594...125,506,485
Ensembl chr 2:125,300,594...125,507,993
JBrowse link
G Foxe3 forkhead box E3 ISO ClinVar Annotator: match by term: Stretch marks ClinVar PMID:30311386 NCBI chr 4:114,924,443...114,926,067
Ensembl chr 4:114,925,147...114,926,013
JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Stretch marks ClinVar PMID:25741868, PMID:30311386 NCBI chr 8:122,043,123...122,272,650
Ensembl chr 8:122,258,620...122,272,650
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 6:87,776,131...87,779,786
Ensembl chr 6:87,778,072...87,779,768
JBrowse link
G Itga2b integrin alpha 2b IDA RGD PMID:11493456 RGD:2316362 NCBI chr11:102,453,297...102,469,883
Ensembl chr11:102,453,297...102,470,122
JBrowse link
G Itgb3 integrin beta 3 IMP
ISO
associated with HIV Infections RGD PMID:11493456, PMID:8565280 RGD:2316362, RGD:10755471 NCBI chr11:104,608,000...104,670,476
Ensembl chr11:104,608,000...104,670,476
JBrowse link
G Vwf Von Willebrand factor ISO RGD PMID:14727254 RGD:1580644 NCBI chr 6:125,552,948...125,686,679
Ensembl chr 6:125,546,774...125,686,679
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: Upshaw-Schulman syndrome
ClinVar Annotator: match by term: Thrombotic thrombocytopenic purpura
ClinVar Annotator: match by OMIM:274150
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
PMID:6433703, PMID:7094941, PMID:11563771, PMID:11586351, PMID:12181489, PMID:12393505, PMID:12576319, PMID:12656756, PMID:12753286, PMID:14512317, PMID:14563640, PMID:14597993, PMID:15009458, PMID:15126318, PMID:15521921, PMID:15800115, PMID:16453338, PMID:16796708, PMID:16807643, PMID:17003922, PMID:17187257, PMID:17627784, PMID:18031293, PMID:18443791, PMID:18481107, PMID:18581589, PMID:18665921, PMID:19047683, PMID:19055667, PMID:19786614, PMID:19847791, PMID:20647566, PMID:20886194, PMID:21488199, PMID:21676167, PMID:21781265, PMID:22289888, PMID:22529288, PMID:22768050, PMID:23346910, PMID:23621748, PMID:23648131, PMID:23715102, PMID:23847193, PMID:24033266, PMID:24936513, PMID:25442981, PMID:25741868, PMID:25934476, PMID:26081109, PMID:26566785, PMID:27132698, PMID:27802307, PMID:28492532, PMID:30312976, PMID:30792199, PMID:31064749, PMID:31971692, PMID:18031293, PMID:11586351, PMID:16200209, PMID:9129011 RGD:10449043, RGD:1598736, RGD:10449037, RGD:10449028 NCBI chr 2:26,973,361...27,009,625
Ensembl chr 2:26,973,416...27,009,628
JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:7529543 RGD:11041104 NCBI chr 5:17,781,690...17,888,959
Ensembl chr 5:17,781,690...17,888,801
JBrowse link
G F3 coagulation factor III ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 3:121,723,537...121,735,052
Ensembl chr 3:121,723,537...121,735,048
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 chr17:34,263,227...34,269,418
Ensembl chr17:34,257,689...34,269,419
JBrowse link
G Proc protein C ISO RGD PMID:10936861 RGD:11100014 NCBI chr18:32,123,126...32,139,570
Ensembl chr18:32,123,126...32,139,570
JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478, PMID:7740478 RGD:11340214 NCBI chr 2:84,432,855...84,476,775
Ensembl chr 2:84,432,855...84,476,775
JBrowse link
G Thbd thrombomodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 2:148,404,471...148,408,188
Ensembl chr 2:148,404,466...148,408,188
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 2:26,973,361...27,009,625
Ensembl chr 2:26,973,416...27,009,628
JBrowse link
G Vwf Von Willebrand factor treatment ISO RGD PMID:26863353 RGD:11079195 NCBI chr 6:125,552,948...125,686,679
Ensembl chr 6:125,546,774...125,686,679
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:30401460 NCBI chr11:106,199,260...106,216,523
Ensembl chr11:106,197,408...106,216,344
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: Pulmonic stenosis with cafe-au-lait spots
ClinVar Annotator: match by term: Café-au-lait macules with pulmonary stenosis
OMIM
ClinVar
PMID:190611, PMID:1302608, PMID:1568246, PMID:1770531, PMID:6025371, PMID:7904209, PMID:8317503, PMID:9375928, PMID:9654211, PMID:9691142, PMID:10090487, PMID:10607834, PMID:10678181, PMID:10712197, PMID:10726756, PMID:10862084, PMID:10980545, PMID:11857752, PMID:12522551, PMID:12552569, PMID:12807981, PMID:14569132, PMID:15060124, PMID:15146469, PMID:15221447, PMID:15863657, PMID:16138229, PMID:16199547, PMID:16542390, PMID:16786042, PMID:16835897, PMID:16944272, PMID:16961930, PMID:17105749, PMID:17160901, PMID:17369502, PMID:17726231, PMID:18041031, PMID:18172006, PMID:18484666, PMID:18546366, PMID:19117870, PMID:19539839, PMID:19920235, PMID:20142468, PMID:20602485, PMID:21089071, PMID:21354044, PMID:21520333, PMID:21532985, PMID:22041710, PMID:22155606, PMID:22429592, PMID:22604720, PMID:22703879, PMID:22962301, PMID:23047742, PMID:23165953, PMID:23244495, PMID:23354915, PMID:23460398, PMID:23656349, PMID:23668869, PMID:23758643, PMID:23812910, PMID:23913538, PMID:24033266, PMID:24218100, PMID:24219125, PMID:24728327, PMID:24789688, PMID:24932921, PMID:25074460, PMID:25324428, PMID:25325900, PMID:25541118, PMID:25741868, PMID:25951773, PMID:26000329, PMID:26056819, PMID:26155992, PMID:26178382, PMID:26467025, PMID:26489445, PMID:26510091, PMID:26740943, PMID:26758488, PMID:27069254, PMID:27170677, PMID:27322474, PMID:27793025, PMID:28213670, PMID:28492532, PMID:28873162, PMID:28976792, PMID:29483232, PMID:29872168, PMID:30190611, PMID:30287823, PMID:30308447, PMID:30311386, PMID:32566746 NCBI chr11:79,339,590...79,581,609
Ensembl chr11:79,339,693...79,581,612
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13427
    Pathological Conditions, Signs and Symptoms 8020
      Signs and Symptoms 4817
        Skin Manifestations 144
          Cafe-au-Lait Spots + 24
          Cellulite 0
          Ecchymosis 0
          Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 1
          Jaundice + 34
          Livedo Reticularis + 9
          Necrolytic Migratory Erythema 0
          Pallor 0
          Pruritus + 17
          Striae Distensae + 3
          purpura + 62
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.