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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


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 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:31618666 NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847 		JBrowse link
autoimmune thrombocytopenic purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19260037 NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687 		JBrowse link
G Alb albumin ISO RGD PMID:6683982 RGD:11036083 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:peripheral blood, B lymphocyte (human) RGD PMID:17654056 RGD:11344977 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand treatment ISO 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:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cd86 CD86 molecule treatment ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:19379594 PMID:20581660 RGD:11354966, RGD:11520785 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO mRNA:decreased expression:mononuclear cell RGD PMID:18683034 RGD:9588662 NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687 		JBrowse link
G Dnmt3b DNA methyltransferase 3 beta susceptibility ISO mRNA:decreased expression:mononuclear cell
DNA:SNP:promoter: -579G>T(human)		 RGD PMID:18683034 PMID:23000068 RGD:9588662, RGD:9589094 NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:serum: RGD PMID:10776692 RGD:11049162 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Fcgr2a Fc gamma receptor 2A no_association
susceptibility
treatment		 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 chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Fcgr2b Fc gamma receptor 2B treatment
disease_progression		 ISO 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 chr13:83,191,253...83,207,778
Ensembl chr13:83,193,163...83,207,778 		JBrowse link
G Fcgr3a Fc gamma receptor 3A treatment
susceptibility		 ISO DNA:SNP:cds:p.V158F(human)
DNA:SNP:exon:p.F158V (rs396991) (human)		 RGD PMID:11380443 PMID:23484707 PMID:22123287 PMID:15479722 RGD:11040776, RGD:11352255, RGD:11040989, RGD:11344926 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO RGD PMID:16861348 RGD:10450841 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774 		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 chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:plasma: RGD PMID:24801815 RGD:11073600 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-899C>T (human) RGD PMID:21591983 RGD:11051966 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO DNA:repeats:: RGD PMID:20626741 RGD:11528541 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il2 interleukin 2 susceptibility ISO DNA:polymorphism::-330T>G(human) RGD PMID:20626741 RGD:11528541 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il4 interleukin 4 disease_progression ISO DNA:repeat:intron RGD PMID:25051072 RGD:11041894 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO RGD PMID:10936026 PMID:24258817 RGD:10755473, RGD:10755475 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679 		JBrowse link
G Mir130a microRNA 130a ISO RNA:decreased expression:PBMC RGD PMID:24801815 RGD:11073600 NCBI chr 3:69,822,542...69,822,629
Ensembl chr 3:69,822,542...69,822,629 		JBrowse link
G Mir3581 microRNA 3581 treatment ISO RGD PMID:23360331 RGD:10755694 NCBI chr 6:128,757,779...128,757,858
Ensembl chr 6:128,757,779...128,757,858 		JBrowse link
G Mir409 microRNA 409 treatment ISO RGD PMID:23360331 RGD:10755694 NCBI chr 6:128,757,780...128,757,856
Ensembl chr 6:128,757,779...128,757,858 		JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:2129164 RGD:11541072 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 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 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779 		JBrowse link
G RT1-Bb RT1 class II, locus Bb treatment ISO DNA:polymorphisms:cds:HLA-DQB1*0401 (human) RGD PMID:10435723 RGD:11041758 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 treatment ISO DNA:polymorphisms:cds:HLA-DRB1*0901, HLA-DRB1*0410 (human) RGD PMID:10435723 RGD:11041758 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Autoimmune thrombocytopenia | ClinVar Annotator: match by term: Autoimmune thrombocytopenic purpura ClinVar PMID:32853638 PMID:33087723 NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383 		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 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		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:8499944 More... NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		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 chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107 		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 complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:1594625 PMID:1944469 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:10607834 PMID:10712197 PMID:12112660 PMID:12807981 PMID:16199547 More... NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO CTD Direct Evidence: marker/mechanism CTD PMID:15077197 NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Cafe-au-lait spot ClinVar PMID:11992261 PMID:15121796 PMID:17339163 PMID:17875892 PMID:18241070 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Spred1 sprouty-related, EVH1 domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17704776 NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718 		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 chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
Drug-Induced Immune Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc2 ATP binding cassette subfamily C member 2 susceptibility ISO associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP, haplotype:promoter,cds: 3972C>T, -24C>T(human) RGD PMID:20943283 RGD:11080978 NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238 		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 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982 		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 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		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 chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		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 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta treatment ISO associated with Glioblastoma; RGD PMID:1331350 RGD:10450883 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 severity ISO RGD PMID:10942385 PMID:17234740 RGD:11541093, RGD:11541120 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116 		JBrowse link
G Pf4 platelet factor 4 treatment IEP RGD PMID:31863655 RGD:329901923 NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365 		JBrowse link
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Facial dysmorphism, immunodeficiency, livedo, and short stature
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:9536098 PMID:16699561 PMID:17576681 PMID:20091185 PMID:21129811 More... NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939 		JBrowse link
Familial Thoracic Aortic Aneurysm 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:9536098 PMID:10532176 PMID:13129918 PMID:14730227 PMID:15138499 More... NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554 		JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:28492532 NCBI chr 1:232,014,877...232,016,195
Ensembl chr 1:232,014,880...232,016,195 		JBrowse link
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:28492532 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Lipa lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:28492532 NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 | ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25500235 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459 		JBrowse link
G Mylk myosin light chain 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 chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		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 PMID:28492532 NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869 		JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25741868 PMID:27879313 PMID:28492532 NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777 		JBrowse link
Henoch-Schoenlein purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme disease_progression ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15315169 RGD:11038920 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Agt angiotensinogen severity ISO DNA:missense mutation:cds:p.M235T (human)
DNA:missense mutation:cds:p.T174M (human)		 RGD PMID:16521052 PMID:20702504 RGD:11039045, RGD:11039055 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1353212 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Ccl2 C-C motif chemokine 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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Cd86 CD86 molecule treatment ISO protein:increased expression:venous blood, B cell (human) RGD PMID:27030970 RGD:11354986 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818 		JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		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 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		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 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582 		JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:serum RGD PMID:16787590 RGD:11354946 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
G Kng2 kininogen 2 ISO protein:increased expression:serum RGD PMID:26098644 RGD:11059888 NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin 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 chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:9543574 RGD:11541055 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:9002298 PMID:12671112 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:19967651 RGD:11552576 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms:cds:HLA-DQA1*0301, HLA-DQA1*0302 (human) RGD PMID:11836690 RGD:5147830 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
Heparin-induced Thrombocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr2a Fc gamma receptor 2A ISO RGD PMID:8772238 RGD:11040889 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Fcgr3a Fc gamma receptor 3A susceptibility ISO DNA:SNP:cds:p.V158F(human) RGD PMID:15191947 RGD:11040991 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921 		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 chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
hereditary spherocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank1 ankyrin 1 severity ISO ClinVar Annotator: match by term: Hereditary spherocytosis | 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 chr16:68,876,294...69,054,963
Ensembl chr16:68,877,504...69,054,759 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861 		JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654 		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 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932 		JBrowse link
G Gpi glucose-6-phosphate isomerase ISO ClinVar Annotator: match by term: Hereditary spherocytosis ClinVar PMID:25741868 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
G Klf1 KLF transcription factor 1 ISO
ISS		 DNA:missense mutation:exon:p.E339D (1065A>T) (human) MouseDO
RGD		 PMID:20691777 RGD:10769342 NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758 		JBrowse link
G Or10z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar NCBI chr13:86,281,535...86,282,476
Ensembl chr13:86,278,626...86,283,642 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) 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 chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO DNA:polymorphisms:introns,exon:
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Recessive
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant | 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 chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371 		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 chr 6:95,310,342...95,437,221
Ensembl chr 6:95,310,326...95,437,118 		JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903 		JBrowse link
hereditary spherocytosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add2 adducin 2 ISS OMIM:182900 MouseDO NCBI chr 4:118,444,594...118,538,505
Ensembl chr 4:118,497,416...118,538,505 		JBrowse link
G Ank1 ankyrin 1 ISO
ISS		 OMIM:182900
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spherocytosis type 1 | ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive		 OMIM
MouseDO
CTD
ClinVar		 PMID:1486040 PMID:7883994 PMID:8640229 PMID:9590147 PMID:11102985 More... NCBI chr16:68,876,294...69,054,963
Ensembl chr16:68,877,504...69,054,759 		JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISS OMIM:182900 MouseDO NCBI chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISS OMIM:182900 MouseDO NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spherocytosis type 2		 OMIM
CTD
ClinVar		 PMID:1391962 PMID:1498324 PMID:7883966 PMID:8667615 PMID:8844207 More... NCBI chr 6:95,310,342...95,437,221
Ensembl chr 6:95,310,326...95,437,118 		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 chr13:86,281,535...86,282,476
Ensembl chr13:86,278,626...86,283,642 		JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO
ISS		 OMIM:270970
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spherocytosis type 3 | ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive		 OMIM
MouseDO
CTD
ClinVar		 PMID:1638030 PMID:3785322 PMID:8081008 PMID:8370581 PMID:8941647 More... NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371 		JBrowse link
hereditary spherocytosis type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spherocytosis type 4 | ClinVar Annotator: match by term: Spherocytosis type 4
OMIM:612653		 CTD
ClinVar
MouseDO		 PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 More... NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spherocytosis type 5		 OMIM
CTD
ClinVar		 PMID:1558976 PMID:2386772 PMID:7772513 PMID:7803799 PMID:8319790 More... NCBI chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperbiliverdinemia		 OMIM
CTD
ClinVar		 PMID:19580635 PMID:21278388 PMID:25741868 NCBI chr 3:114,340,778...114,366,048
Ensembl chr 3:114,340,838...114,366,033 		JBrowse link
Immunodeficiency 111 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpp9 dipeptidyl peptidase 9 ISO ClinVar Annotator: match by term: Hatipoglu immunodeficiency syndrome OMIM
ClinVar		 PMID:36112693 NCBI chr 9:1,011,347...1,046,337
Ensembl chr 9:1,011,351...1,046,541 		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 chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Ccl25 C-C motif chemokine ligand 25 IEP mRNA:decreased expression:ileum RGD PMID:18592157 RGD:5130926 NCBI chr12:2,707,398...2,716,571
Ensembl chr12:2,707,398...2,716,554 		JBrowse link
G Cplane1 ciliogenesis and planar polarity effector complex subunit 1 ISO ClinVar Annotator: match by term: Jaundice ClinVar PMID:24178751 PMID:25407461 PMID:25741868 PMID:26092869 PMID:28125082 More... NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 IEP RGD PMID:8502229 RGD:11576308 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 IEP mRNA:decreased expression:liver RGD PMID:18442205 PMID:8502229 RGD:2303375, RGD:11576308 NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312 		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 chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348 		JBrowse link
G Hbb hemoglobin subunit beta ISO RGD PMID:10870887 RGD:1600896 NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP protein:increased expression:lung (rat) RGD PMID:19034056 RGD:4145521 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Invs inversin ISO RGD PMID:10421642 RGD:155791685 NCBI chr 5:62,610,916...62,763,813
Ensembl chr 5:62,610,968...62,763,350 		JBrowse link
G Rbp4 retinol binding protein 4 disease_progression ISO associated with biliary atresia; protein:decreased expression:blood serum (human) RGD PMID:21484122 RGD:329845870 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399 		JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 treatment ISO
IAGP		 RGD PMID:19585550 PMID:20323028 RGD:13432069, RGD:1354701 NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465 		JBrowse link
G Ugt1a1j UDP glucuronosyltransferase family 1 member A1, jaundice mutant IAGP RGD PMID:20323028 RGD:1354701
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 3:104,134,803...104,164,249
Ensembl chr 3:104,134,824...104,163,704 		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 3:104,168,549...104,230,107
Ensembl chr 3:104,170,013...104,230,056 		JBrowse link
G Spred1 sprouty-related, EVH1 domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Legius syndrome | ClinVar Annotator: match by term: Neurofibromatosis type 1 like syndrome		 OMIM
CTD
ClinVar		 PMID:2275304 PMID:9536098 PMID:15683364 PMID:16199547 PMID:17576681 More... NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718 		JBrowse link
obstructive jaundice term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22022477 NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202 		JBrowse link
G Adm adrenomedullin IEP protein:increased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654 		JBrowse link
G Alb albumin IEP RGD PMID:9161836 RGD:11036102 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment IDA RGD PMID:15573249 RGD:8549649 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Cd14 CD14 molecule IEP mRNA:increased expression:ileum, liver, lung, spleen RGD PMID:25093541 RGD:9685190 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261 		JBrowse link
G Cfh complement factor H IEP protein:decreased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
G Gpt glutamic--pyruvic transaminase IEP RGD PMID:9161836 RGD:11036102 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494 		JBrowse link
G Hmbs hydroxymethylbilane synthase EXP Protein:increased activity:liver (rat) RGD PMID:3963818 RGD:4144803 NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957 		JBrowse link
G Hmgb1 high mobility group box 1 IEP protein:increased expression:liver, plasma RGD PMID:21737101 RGD:10402168 NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565 		JBrowse link
G Irf5 interferon regulatory factor 5 IEP mRNA,protein:increased expression:liver,nucleus: RGD PMID:21737101 RGD:10402168 NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267 		JBrowse link
G Lbp lipopolysaccharide binding protein IEP mRNA:increased expression:liver RGD PMID:25093541 RGD:9685190 NCBI chr 3:146,953,889...146,981,032
Ensembl chr 3:146,954,015...146,981,586 		JBrowse link
G Pcna proliferating cell nuclear antigen treatment IEP RGD PMID:12917765 RGD:10448973 NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995 		JBrowse link
G Tlr2 toll-like receptor 2 treatment ISO RGD PMID:29366780 RGD:15090858 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Ucp2 uncoupling protein 2 IEP RGD PMID:19632092 RGD:7204429 NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611 		JBrowse link
Posttransfusion Purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb3 integrin subunit beta 3 ISO ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM ClinVar
OMIM		 PMID:1430225 PMID:9787162 PMID:14516468 PMID:21658138 PMID:25741868 More... NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679 		JBrowse link
Pruritus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb11 ATP binding cassette subfamily B member 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pruritus		 CTD
ClinVar		 PMID:15300568 PMID:17855769 PMID:18049162 PMID:25741868 PMID:28492532 More... NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Artn artemin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr 5:131,458,596...131,470,193
Ensembl chr 5:131,464,756...131,468,025 		JBrowse link
G F2rl1 F2R like trypsin receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19712758 NCBI chr 2:26,772,274...26,785,226
Ensembl chr 2:26,772,278...26,785,226 		JBrowse link
G Grk2 G protein-coupled receptor kinase 2 severity ISO RGD PMID:29530536 RGD:13513974 NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582 		JBrowse link
G Grp gastrin releasing peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:29669290 NCBI chr18:59,388,679...59,402,061
Ensembl chr18:59,388,274...59,402,061 		JBrowse link
G Hrh1 histamine receptor H 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652466 NCBI chr 4:147,564,963...147,649,353
Ensembl chr 4:147,645,995...147,647,455 		JBrowse link
G Hrh4 histamine receptor H4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652466 NCBI chr18:4,166,270...4,182,426
Ensembl chr18:4,166,270...4,246,345 		JBrowse link
G Nmb neuromedin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29669290 NCBI chr 1:134,869,446...134,875,507
Ensembl chr 1:134,869,446...134,872,190 		JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27192616 NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409 		JBrowse link
G Pdyn prodynorphin ISO CTD Direct Evidence: marker/mechanism CTD PMID:29669290 NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24820863 NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516 		JBrowse link
G Tac1 tachykinin, precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652466 NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178 		JBrowse link
G Tpsab1 tryptase alpha/beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27749843 NCBI chr10:14,360,396...14,362,811
Ensembl chr10:14,360,396...14,362,811 		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 chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
purpura fulminans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:18376272 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133 		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 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Striae distensae ClinVar PMID:25741868 NCBI chr19:50,282,337...50,324,010 JBrowse link
Thrombocytopenic Purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp9 glycoprotein IX (platelet) ISO RGD PMID:23103637 RGD:11040532 NCBI chr 4:120,235,500...120,237,110
Ensembl chr 4:120,235,421...120,237,110 		JBrowse link
G Itga2b integrin subunit alpha 2b ISO RGD PMID:11493456 RGD:2316362 NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO associated with HIV Infections RGD PMID:11493456 PMID:8565280 RGD:2316362, RGD:10755471 NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679 		JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:14727254 RGD:1580644 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
thrombotic thrombocytopenic purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO 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 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687 		JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:7529543 RGD:11041104 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668 		JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO RGD PMID:10936861 RGD:11100014 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms:cds:HLA-DQB1*0301 (human) RGD PMID:19922436 RGD:11041754 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		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 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880 		JBrowse link
G Thbd thrombomodulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7740478 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193 		JBrowse link
Thrombotic Thrombocytopenic Purpura, Acquired term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 treatment ISO human protein in a rat model RGD PMID:9828246 PMID:26338302 RGD:10449039, RGD:10449097 NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687 		JBrowse link
G Vwf von Willebrand factor treatment ISO RGD PMID:26863353 RGD:11079195 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		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 chr10:91,130,303...91,148,829
Ensembl chr10:91,130,303...91,148,881 		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 CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:190611 PMID:1302608 PMID:1568246 PMID:7655472 PMID:7904209 More... NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    Pathological Conditions, Signs and Symptoms 13291
      Signs and Symptoms 10731
        Skin Manifestations 135
          Cafe-au-Lait Spots + 9
          Cellulite 0
          Ecchymosis 0
          Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 1
          Immunodeficiency 111 1
          Jaundice + 42
          Livedo Reticularis + 12
          Necrolytic Migratory Erythema 0
          Pallor 0
          Pruritus + 15
          Striae Distensae + 2
          purpura + 57
paths to the root