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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:Genetic Skin Diseases
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Accession:DOID:9007168 term browser browse the term
Definition:Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism.
Synonyms:exact_synonym: Genetic Skin Disease
 primary_id: MESH:D012873
 alt_id: RDO:0001013


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Genetic Skin Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT4 keratin 4 susceptibility ISO DNA:deletion: ; white sponge nevus, OMIM:193900 RGD PMID:7493030 RGD:1600193 NCBI chr 5:18,091,742...18,099,086
Ensembl chr 5:18,091,743...18,099,178 		JBrowse link
G LOC100515166 keratin, type I cytoskeletal 13 susceptibility ISO DNA:missense mutation: ; white sponge nevus, OMIM:193900 RGD PMID:7493031 RGD:1304472 NCBI chr12:21,139,296...21,143,556 JBrowse link
ACCES Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UBA2 ubiquitin like modifier activating enzyme 2 ISO ClinVar Annotator: match by term: ACCES syndrome | ClinVar Annotator: match by term: APLASIA CUTIS CONGENITA WITH ECTRODACTYLY SKELETAL SYNDROME ClinVar
OMIM		 PMID:11920840 PMID:25741868 PMID:28110515 PMID:28492532 PMID:31332306 More... NCBI chr 6:44,103,150...44,141,396 JBrowse link
acute intermittent porphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Hydroxymethylbilane Synthase Deficiency ClinVar PMID:22958180 PMID:24281366 PMID:25741868 PMID:28492532 NCBI chr15:121,246,180...121,254,350
Ensembl chr15:121,246,187...121,254,331 		JBrowse link
G ACO2 aconitase 2 ISO ClinVar Annotator: match by term: Acute intermittent porphyria ClinVar PMID:25741868 NCBI chr 5:7,014,383...7,071,023
Ensembl chr 5:7,008,719...7,071,025 		JBrowse link
G ALAS2 5'-aminolevulinate synthase 2 ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:23650938 RGD:18337288 NCBI chr  X:47,871,519...47,896,041
Ensembl chr  X:47,871,523...47,896,000 		JBrowse link
G CPOX coproporphyrinogen oxidase ISO ClinVar Annotator: match by term: Acute intermittent porphyria ClinVar PMID:28492532 NCBI chr13:160,332,436...160,345,862
Ensembl chr13:160,332,436...160,348,232 		JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: Porphyria, Swedish type ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 9:46,308,824...46,316,905
Ensembl chr 9:46,310,872...46,316,858 		JBrowse link
G HMBS hydroxymethylbilane synthase severity
susceptibility
treatment		 ISO ClinVar Annotator: match by term: Abnormality of the heme biosynthetic pathway | ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: HMBS-related condition | ClinVar Annotator: match by term: Porphyria, Swedish type
DNA:missense mutation:cds: p.R167Q (c.500G>A) (mouse)
DNA:missense mutation:exon 10: p.R173W (c.517C>T) (human)
human gene in a mouse model
human mRNA in a mouse model		 OMIM
ClinVar
RGD		 PMID:1301948 PMID:1427766 PMID:1496994 PMID:1577472 PMID:1714233 More... RGD:19165353 RGD:21079452 RGD:21079456 RGD:21079460 NCBI chr 9:46,300,039...46,308,681
Ensembl chr 9:46,300,050...46,308,868 		JBrowse link
G PPOX protoporphyrinogen oxidase ISO DNA:missense mutation:exon:p.R59W (mouse) RGD PMID:11929050 RGD:4145363 NCBI chr 4:89,277,984...89,288,946
Ensembl chr 4:89,284,500...89,288,902 		JBrowse link
Acute Intermittent Porphyria, Nonerythroid Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HMBS hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Porphyria, acute intermittent, nonerythroid variant ClinVar PMID:2511016 PMID:2563167 PMID:2915972 PMID:7757070 PMID:7962538 More... NCBI chr 9:46,300,039...46,308,681
Ensembl chr 9:46,300,050...46,308,868 		JBrowse link
Adams-Oliver syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP31 Rho GTPase activating protein 31 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome ClinVar PMID:28492532 NCBI chr13:140,837,078...140,948,504
Ensembl chr13:140,839,268...140,948,303 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome ClinVar PMID:26299364 PMID:29924900 NCBI chr 1:130,376,720...130,386,411
Ensembl chr 1:130,376,721...130,386,411 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome ClinVar PMID:21820096 PMID:24033266 PMID:25558065 PMID:25824905 PMID:28492532 NCBI chr 2:69,925,853...69,972,326
Ensembl chr 2:69,925,854...69,972,316 		JBrowse link
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase ISO ClinVar Annotator: match by term: Adams-Oliver syndrome ClinVar PMID:23522784 PMID:25558065 PMID:25741868 NCBI chr13:50,396,625...50,436,218
Ensembl chr13:50,396,629...50,436,199 		JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome ClinVar PMID:24728327 PMID:25741868 PMID:28492532
G RBPJ recombination signal binding protein for immunoglobulin kappa J region ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:19,933,035...20,166,746
Ensembl chr 8:19,922,779...20,166,754 		JBrowse link
Adams-Oliver Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP31 Rho GTPase activating protein 31 ISO ClinVar Annotator: match by term: ARHGAP31-related condition | ClinVar Annotator: match by term: Adams-Oliver syndrome 1 OMIM
ClinVar		 PMID:474617 PMID:16451141 PMID:21565291 PMID:24033266 PMID:25741868 More... NCBI chr13:140,837,078...140,948,504
Ensembl chr13:140,839,268...140,948,303 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 1 ClinVar PMID:21820096 PMID:25741868 PMID:25824905 PMID:26457590 PMID:28492532 More... NCBI chr 2:69,925,853...69,972,326
Ensembl chr 2:69,925,854...69,972,316 		JBrowse link
Adams-Oliver Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DOCK6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 2 | ClinVar Annotator: match by term: DOCK6-related condition OMIM
ClinVar		 PMID:8849019 PMID:9536098 PMID:16199547 PMID:17159513 PMID:17576681 More... NCBI chr 2:69,925,853...69,972,326
Ensembl chr 2:69,925,854...69,972,316 		JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 2 ClinVar PMID:18593716 PMID:20951801 PMID:20981092 PMID:25741868 PMID:28492532 More...
Adams-Oliver Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RBPJ recombination signal binding protein for immunoglobulin kappa J region ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 3 OMIM
ClinVar		 PMID:22883147 PMID:25741868 PMID:28492532 PMID:29924900 NCBI chr 8:19,933,035...20,166,746
Ensembl chr 8:19,922,779...20,166,754 		JBrowse link
Adams-Oliver Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 4 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23522784 PMID:23860037 More... NCBI chr13:50,396,625...50,436,218
Ensembl chr13:50,396,629...50,436,199 		JBrowse link
Adams-Oliver Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G ANAPC2 anaphase promoting complex subunit 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G ARRDC1 arrestin domain containing 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G C8G complement C8 gamma chain ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G CACNA1B calcium voltage-gated channel subunit alpha1 B ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G CAMSAP1 calmodulin regulated spectrin associated protein 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G CARD9 caspase recruitment domain family member 9 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G CCDC183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G CIMIP2A ciliary microtubule inner protein 2A ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G CLIC3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:28492532 PMID:29907982 NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,111 		JBrowse link
G CYSRT1 cysteine rich tail 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G DIPK1B divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G DNLZ DNL-type zinc finger ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G DPH7 diphthamide biosynthesis 7 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G DPP7 dipeptidyl peptidase 7 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G EDF1 endothelial differentiation related factor 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G EGFL7 EGF like domain multiple 7 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G EHMT1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G ENTR1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G EXD3 exonuclease 3'-5' domain containing 3 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G FBXW5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G FCN2 ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:28492532 PMID:29907982 NCBI chr 1:274,106,276...274,111,970
Ensembl chr 1:274,103,877...274,111,970 		JBrowse link
G FUT7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G GLT6D1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G GPSM1 G protein signaling modulator 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G INPP5E inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G KCNT1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G LCN10 lipocalin 10 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G LCN12 lipocalin 12 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G LCN15 lipocalin 15 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G LCN6 lipocalin 6 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G LCN9 lipocalin 9 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G LOC110258087 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase-like ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G LRRC26 leucine rich repeat containing 26 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G MAMDC4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G MIR126 microRNA mir-126 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G MRPL41 mitochondrial ribosomal protein L41 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G MRPS2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G NACC2 NACC family member 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G NDOR1 NADPH dependent diflavin oxidoreductase 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G NELFB negative elongation factor complex member B ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 OMIM
ClinVar		 PMID:1621771 PMID:3495735 PMID:4750422 PMID:9536098 PMID:12774039 More...
G NOXA1 NADPH oxidase activator 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G NPDC1 neural proliferation, differentiation and control 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G NRARP NOTCH regulated ankyrin repeat protein ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G OBP2B odorant binding protein 2B ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 1:272,886,871...272,890,537 JBrowse link
G OLFM1 olfactomedin 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:28492532 PMID:29907982 NCBI chr 1:274,236,241...274,261,322
Ensembl chr 1:274,224,454...274,261,328 		JBrowse link
G PAEP progestagen associated endometrial protein ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G PAXX PAXX non-homologous end joining factor ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G PHPT1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G PIERCE1 piercer of microtubule wall 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:28492532 PMID:29907982
G PMPCA peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G PNPLA7 patatin like phospholipase domain containing 7 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G PPP1R26 protein phosphatase 1 regulatory subunit 26 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:28492532 PMID:29907982
G PTGDS prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G QSOX2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G RABL6 RAB, member RAS oncogene family like 6 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G RNF208 ring finger protein 208 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G RNF224 ring finger protein 224 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G SAPCD2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G SLC34A3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G SNAPC4 small nuclear RNA activating complex polypeptide 4 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G SSNA1 SS nuclear autoantigen 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G STPG3 sperm-tail PG-rich repeat containing 3 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G TMEM141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G TMEM203 transmembrane protein 203 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G TMEM210 transmembrane protein 210 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G TMEM250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G TOR4A torsin family 4 member A ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G TPRN taperin ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G TRAF2 TNF receptor associated factor 2 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G TUBB4B tubulin beta 4B class IVb ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G UBAC1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
G ZMYND19 zinc finger MYND-type containing 19 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 5 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More...
Adams-Oliver Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLL4 delta like canonical Notch ligand 4 ISO ClinVar Annotator: match by term: Adams-Oliver syndrome 6 | ClinVar Annotator: match by term: DLL4-related condition OMIM
ClinVar		 PMID:616589 PMID:25741868 PMID:26299364 PMID:28492532 PMID:29924900 More... NCBI chr 1:130,376,720...130,386,411
Ensembl chr 1:130,376,721...130,386,411 		JBrowse link
adermatoglyphia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 ISO ClinVar Annotator: match by term: Adermatoglyphia OMIM
ClinVar		 PMID:10631162 PMID:20619487 PMID:21820097 PMID:24909267 PMID:25741868 More... NCBI chr 8:125,410,221...125,488,471
Ensembl chr 8:125,409,507...125,488,153 		JBrowse link
ADULT syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome OMIM
ClinVar		 PMID:8456838 PMID:8737655 PMID:9443880 PMID:9536098 PMID:11462173 More... NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,105...127,347,068 		JBrowse link
ALAD-Deficiency Porphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALAD aminolevulinate dehydratase ISO ClinVar Annotator: match by term: Porphobilinogen synthase deficiency | ClinVar Annotator: match by term: Porphyria, acute hepatic, digenic ClinVar
OMIM		 PMID:513604 PMID:1569184 PMID:1716854 PMID:1905639 PMID:2063868 More... NCBI chr 1:254,015,426...254,027,584
Ensembl chr 1:254,012,850...254,027,508 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO protein:increased expression:liver RGD PMID:23390166 RGD:10449130 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		JBrowse link
Aland Island eye disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CABP4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:30718709 NCBI chr 2:5,068,535...5,079,482
Ensembl chr 2:5,068,037...5,072,188 		JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Ocular albinism, type II OMIM
ClinVar		 PMID:9662399 PMID:11281458 PMID:14230113 PMID:16199547 PMID:17525176 More... NCBI chr  X:43,250,449...43,284,458
Ensembl chr  X:43,251,370...43,283,990 		JBrowse link
G WHRN whirlin ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:28492532 PMID:30718709 NCBI chr 1:255,009,765...255,095,281
Ensembl chr 1:255,009,771...255,095,222 		JBrowse link
Albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCT dopachrome tautomerase ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:33100333 NCBI chr11:63,584,865...63,647,486
Ensembl chr11:63,584,869...63,678,344 		JBrowse link
G GPR143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:8634705 PMID:11115845 PMID:11214907 PMID:26785811 PMID:28041643 More... NCBI chr  X:6,242,296...6,276,654
NCBI chr  Y:4,669,764...4,704,304 		JBrowse link
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:12664304 PMID:16199547 PMID:25741868 PMID:28492532 PMID:29600982 NCBI chr14:44,041,684...44,073,661
Ensembl chr14:44,049,707...44,073,621 		JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:19060277 PMID:23824587 PMID:25741868 PMID:27734839 PMID:28041643 More... NCBI chr15:56,657,648...56,869,920
Ensembl chr15:56,657,616...56,869,918 		JBrowse link
G TYR tyrosinase treatment ISO ClinVar Annotator: match by term: Albinism RGD
ClinVar		 PMID:666627 PMID:1429711 PMID:1820207 PMID:1832718 PMID:1899321 More... RGD:8694355 NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290 		JBrowse link
G TYRP1 tyrosinase related protein 1 ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:8651291 PMID:9345097 PMID:16199547 PMID:25741868 PMID:28041643 More... NCBI chr 1:209,725,698...209,745,141
Ensembl chr 1:209,725,638...209,745,705 		JBrowse link
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome OMIM
ClinVar		 PMID:9536098 PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 More... NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,105...127,347,068 		JBrowse link
Annular Epidermolytic Ichthyosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT1 keratin 1 ISO ClinVar Annotator: match by term: Annular epidermolytic ichthyosis ClinVar PMID:8751983 PMID:10053007 PMID:14708600 PMID:15214894 PMID:22250628 More... NCBI chr 5:18,012,922...18,018,582
Ensembl chr 5:18,012,925...18,018,582 		JBrowse link
G KRT10 keratin 10 ISO ClinVar Annotator: match by term: Annular epidermolytic ichthyosis ClinVar PMID:1381287 PMID:7508181 PMID:7509230 PMID:7512983 PMID:21271994 More... NCBI chr12:21,641,263...21,645,642
Ensembl chr12:21,641,271...21,646,377 		JBrowse link
Annular Epidermolytic Ichthyosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT10 keratin 10 ISO OMIM NCBI chr12:21,641,263...21,645,642
Ensembl chr12:21,641,271...21,646,377 		JBrowse link
Annular Epidermolytic Ichthyosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT1 keratin 1 ISO ClinVar Annotator: match by term: Ichthyosis, annular epidermolytic, 2 OMIM
ClinVar		 PMID:10053007 PMID:15214894 PMID:16227096 PMID:22250628 PMID:25741868 More... NCBI chr 5:18,012,922...18,018,582
Ensembl chr 5:18,012,925...18,018,582 		JBrowse link
arterial tortuosity syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 ISO DNA:missense mutation:CDS:p.D203A (human) RGD PMID:22943132 RGD:42722010 NCBI chr 2:6,455,155...6,463,493
Ensembl chr 2:6,450,332...6,463,486 		JBrowse link
G EMILIN1 elastin microfibril interfacer 1 ISO ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:28492532 PMID:36351433 NCBI chr 3:112,031,910...112,039,928
Ensembl chr 3:112,031,917...112,046,429 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G MUS81 MUS81 structure-specific endonuclease subunit ISO OMIM:208050 MouseDO NCBI chr 2:6,462,825...6,470,780
Ensembl chr 2:6,463,413...6,469,112 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Arterial tortuosity syndrome OMIM
ClinVar		 PMID:9536098 PMID:12801113 PMID:14569121 PMID:16199547 PMID:16550171 More... NCBI chr17:48,824,054...48,842,811
Ensembl chr17:48,824,414...48,843,201 		JBrowse link
Arthrogryposis and Ectodermal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTOF otoferlin ISO ClinVar Annotator: match by term: Trichooculodermovertebral syndrome ClinVar PMID:16199547 PMID:18381613 PMID:19250381 PMID:22575033 PMID:28492532 More... NCBI chr 3:112,478,188...112,581,105
Ensembl chr 3:112,478,027...112,581,104 		JBrowse link
asphyxiating thoracic dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:26077881 NCBI chr 3:96,616,304...96,656,893
Ensembl chr 3:96,616,246...96,656,889 		JBrowse link
G CSRNP3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr15:72,040,854...72,242,269
Ensembl chr15:72,141,621...72,233,832 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 | ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:26874042 More... NCBI chr 9:33,720,920...34,039,954
Ensembl chr 9:33,720,877...34,040,188 		JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr18:507,163...555,142
Ensembl chr18:508,276...553,968 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:9536098 PMID:17576681 PMID:26077881 PMID:26130459 PMID:28492532 More... NCBI chr 3:96,656,099...96,703,282
Ensembl chr 3:96,654,415...96,703,237 		JBrowse link
G EVC2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:19251731 PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr 8:4,893,480...5,023,655
Ensembl chr 8:4,893,217...5,023,644 		JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr15:72,276,502...72,343,524
Ensembl chr15:72,293,614...72,342,435 		JBrowse link
G IFT140 intraflagellar transport 140 ISO OMIM:208500 MouseDO NCBI chr 3:40,309,298...40,372,139
Ensembl chr 3:40,309,635...40,372,135 		JBrowse link
G IFT172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:111,683,674...111,718,504
Ensembl chr 3:111,683,669...111,718,970 		JBrowse link
G IFT80 intraflagellar transport 80 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr13:99,943,203...100,078,148
Ensembl chr13:99,943,208...100,078,148 		JBrowse link
G LBR lamin B receptor ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28600779 PMID:29068549 NCBI chr10:13,389,896...13,416,831
Ensembl chr10:13,386,946...13,416,759 		JBrowse link
G NEK1 NIMA related kinase 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:25741868 NCBI chr14:20,144,631...20,332,248
Ensembl chr14:20,144,659...20,332,245 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,066 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr15:71,864,753...71,999,219
Ensembl chr15:71,864,784...71,999,211 		JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr15:71,717,330...71,824,190
Ensembl chr15:71,717,334...71,824,160 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr15:72,745,706...72,912,352
Ensembl chr15:72,748,705...72,912,382 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome | ClinVar Annotator: match by term: Infantile thoracic dystrophy ClinVar PMID:9536098 PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 More... NCBI chr15:72,430,250...72,512,503
Ensembl chr15:72,430,726...72,512,491 		JBrowse link
G WDR19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:22019273 PMID:23559409 PMID:23683095 PMID:25741868 PMID:26275793 More... NCBI chr 8:30,453,969...30,553,699
Ensembl chr 8:30,463,862...30,553,703 		JBrowse link
G WDR35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:28332779 More... NCBI chr 3:118,209,112...118,279,050
Ensembl chr 3:118,209,139...118,269,452 		JBrowse link
asphyxiating thoracic dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFT80 intraflagellar transport 80 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 More... NCBI chr13:99,943,203...100,078,148
Ensembl chr13:99,943,208...100,078,148 		JBrowse link
ataxia telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:35,903,902...35,948,573
Ensembl chr 9:35,839,917...35,948,575 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633 		JBrowse link
G ADA2 adenosine deaminase 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia ClinVar PMID:25741868 PMID:27884168 PMID:28492532 NCBI chr 5:69,526,413...69,554,640
Ensembl chr 5:69,526,435...69,554,661 		JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:39,519,217...39,620,098
Ensembl chr 9:39,527,883...39,619,892 		JBrowse link
G ALKBH8 alkB homolog 8, tRNA methyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:36,077,004...36,119,936
Ensembl chr 9:36,077,192...36,119,920 		JBrowse link
G AMOTL1 angiomotin like 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:26,811,872...26,978,107
Ensembl chr 9:26,864,312...26,973,552 		JBrowse link
G ANGPTL5 angiopoietin like 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:32,610,041...32,627,337
Ensembl chr 9:32,610,297...32,627,337 		JBrowse link
G ANKRD49 ankyrin repeat domain 49 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:26,634,616...26,642,520
Ensembl chr 9:26,634,708...26,642,512 		JBrowse link
G ARHGAP20 Rho GTPase activating protein 20 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:38,471,049...38,582,221
Ensembl chr 9:38,474,865...38,582,242 		JBrowse link
G ARHGAP42 Rho GTPase activating protein 42 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:31,720,586...31,999,730
Ensembl chr 9:31,720,849...31,994,581 		JBrowse link
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency
ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome		 ClinVar
OMIM		 PMID:100011 PMID:133608 PMID:581456 PMID:622825 PMID:623656 More... NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552 		JBrowse link
G BAK1 BCL2 antagonist/killer 1 ISO DNA:mutation:exon:c.342C>T(human) RGD PMID:19898928 RGD:14394817 NCBI chr 7:29,808,849...29,815,345 JBrowse link
G BAX BCL2 associated X, apoptosis regulator susceptibility ISO DNA:mutations:introns:IVS1146C>T, IVS3+14A>G(human) RGD PMID:19898928 RGD:14394817 NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,140 		JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:33,003,570...33,020,252
Ensembl chr 9:33,003,276...33,020,242 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:16439621 PMID:16474404 PMID:18039235 PMID:18413255 PMID:18953432 More... NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553 		JBrowse link
G BTG4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:39,253,116...39,281,327
Ensembl chr 9:39,237,461...39,301,588 		JBrowse link
G C9H11orf52 chromosome 9 C11orf52 homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:39,646,890...39,655,229
Ensembl chr 9:39,647,797...39,655,223 		JBrowse link
G C9H11orf65 chromosome 9 C11orf65 homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome		 ClinVar PMID:100011 PMID:581456 PMID:622825 PMID:988733 PMID:1065243 More... NCBI chr 9:36,768,819...36,855,318
Ensembl chr 9:36,776,897...36,849,710 		JBrowse link
G C9H11orf87 chromosome 9 C11orf87 homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:37,297,438...37,939,922
Ensembl chr 9:37,613,308...37,620,660 		JBrowse link
G CASP1 caspase 1, apoptosis-related cysteine peptidase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:35,188,066...35,199,364
Ensembl chr 9:35,186,420...35,200,328 		JBrowse link
G CCDC82 coiled-coil domain containing 82 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:28,376,716...28,407,350
Ensembl chr 9:28,376,732...28,407,348 		JBrowse link
G CEP126 centrosomal protein 126 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:32,631,859...32,715,458
Ensembl chr 9:32,631,897...32,705,793 		JBrowse link
G CEP57 centrosomal protein 57 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:27,812,944...27,858,293
Ensembl chr 9:27,812,917...27,859,568 		JBrowse link
G CFAP300 cilia and flagella associated protein 300 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:32,753,274...32,795,303
Ensembl chr 9:32,765,880...32,795,297 		JBrowse link
G CFAP68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:39,629,921...39,641,769
Ensembl chr 9:39,612,409...39,660,648 		JBrowse link
G CNTN5 contactin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:30,259,603...31,469,860
Ensembl chr 9:30,572,372...31,469,858 		JBrowse link
G CRYAB crystallin alpha B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:39,638,505...39,643,530
Ensembl chr 9:39,638,506...39,643,530 		JBrowse link
G CUL5 cullin 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:36,419,806...36,507,681
Ensembl chr 9:36,419,881...36,507,667 		JBrowse link
G CWC15 CWC15 spliceosome associated protein homolog ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:27,035,501...27,047,280
Ensembl chr 9:27,035,510...27,047,224 		JBrowse link
G CWF19L2 CWF19 like cell cycle control factor 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:35,967,198...36,059,780
Ensembl chr 9:35,967,204...36,059,749 		JBrowse link
G DCUN1D5 defective in cullin neddylation 1 domain containing 5 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:33,674,524...33,707,648
Ensembl chr 9:33,674,268...33,707,618 		JBrowse link
G DDI1 DNA damage inducible 1 homolog 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:34,503,087...34,505,026
Ensembl chr 9:34,503,716...34,504,921 		JBrowse link
G DDX10 DEAD-box helicase 10 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:37,006,571...37,265,973 JBrowse link
G DIXDC1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:39,666,454...39,734,909 JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:39,738,639...39,763,813
Ensembl chr 9:39,738,564...39,796,806 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:33,720,920...34,039,954
Ensembl chr 9:33,720,877...34,040,188 		JBrowse link
G ELMOD1 ELMO domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:36,141,330...36,208,125
Ensembl chr 9:36,142,316...36,208,696 		JBrowse link
G ENDOD1 endonuclease domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:27,134,039...27,163,278
Ensembl chr 9:27,134,056...27,164,703 		JBrowse link
G FAM76B family with sequence similarity 76 member B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:27,790,139...27,813,418
Ensembl chr 9:27,790,150...27,812,222 		JBrowse link
G FDX1 ferredoxin 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:38,376,147...38,399,026
Ensembl chr 9:38,375,984...38,404,832 		JBrowse link
G FDXACB1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:39,623,871...39,629,987
Ensembl chr 9:39,622,902...39,629,836 		JBrowse link
G FUT4 fucosyltransferase 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:26,679,540...26,686,217
Ensembl chr 9:26,679,868...26,681,541 		JBrowse link
G GRIA4 glutamate ionotropic receptor AMPA type subunit 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:35,442,060...35,803,989
Ensembl chr 9:35,442,091...35,805,357 		JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:62,101,581...62,510,803
Ensembl chr 9:62,101,613...62,499,581 		JBrowse link
G HDAC4 histone deacetylase 4 treatment ISO protein:altered localization:nucleus: RGD PMID:22466704 RGD:9681455 NCBI chr15:138,378,237...138,657,266
Ensembl chr15:138,381,635...138,614,301 		JBrowse link
G HOATZ HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:39,278,888...39,304,816
Ensembl chr 9:39,276,995...39,304,804 		JBrowse link
G IFNG interferon gamma ISO RGD PMID:6432389 RGD:8693328 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
G IL2 interleukin 2 ISO RGD PMID:6432389 RGD:8693328 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609 		JBrowse link
G IL6 interleukin 6 severity ISO RGD PMID:26851119 RGD:11529801 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G KBTBD3 kelch repeat and BTB domain containing 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:35,870,911...35,903,870
Ensembl chr 9:35,874,041...35,903,729 		JBrowse link
G LAYN layilin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:39,306,276...39,326,825
Ensembl chr 9:39,306,300...39,327,072 		JBrowse link
G LOC100512977 KDEL motif-containing protein 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:36,856,092...36,970,940
Ensembl chr 9:36,852,560...36,879,483
Ensembl chr 9:36,852,560...36,879,483 		JBrowse link
G LOC100522887 caspase-13 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:35,167,567...35,185,791 JBrowse link
G LOC100622859 baculoviral IAP repeat-containing protein 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:33,041,592...33,062,865
Ensembl chr 9:33,041,663...33,062,854 		JBrowse link
G LOC100627380 lysine-specific demethylase 4D-like ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:27,083,348...27,085,693 JBrowse link
G LOC641352 caspase-15 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr13:24,046,127...24,068,431 JBrowse link
G MAML2 mastermind like transcriptional coactivator 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:27,993,319...28,372,982
Ensembl chr 9:27,997,887...28,371,397 		JBrowse link
G MIR34C-1 microRNA mir-34c-1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:39,280,278...39,280,357
Ensembl chr 9:39,280,278...39,280,357 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076 		JBrowse link
G MMP12 matrix metallopeptidase 12 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:33,473,625...33,483,630
Ensembl chr 9:33,473,093...33,483,679 		JBrowse link
G MMP13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:33,549,003...33,616,700
Ensembl chr 9:33,549,008...33,561,162 		JBrowse link
G MMP20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:33,261,448...33,308,047
Ensembl chr 9:33,261,443...33,308,047 		JBrowse link
G MMP27 matrix metallopeptidase 27 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:33,366,342...33,379,828
Ensembl chr 9:33,366,345...33,379,789 		JBrowse link
G MMP3 matrix metallopeptidase 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,446,836...33,454,000 		JBrowse link
G MMP7 matrix metallopeptidase 7 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:33,214,590...33,225,080
Ensembl chr 9:33,214,594...33,225,080 		JBrowse link
G MMP8 matrix metallopeptidase 8 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:33,384,034...33,397,637
Ensembl chr 9:33,384,033...33,396,947 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:26,572,352...26,634,596
Ensembl chr 9:26,572,361...26,634,567 		JBrowse link
G MSANTD4 Myb/SANT DNA binding domain containing 4 with coiled-coils ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:35,828,697...35,839,579
Ensembl chr 9:35,830,837...35,862,114 		JBrowse link
G MTMR2 myotubularin related protein 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:27,864,335...27,974,448
Ensembl chr 9:27,854,491...27,974,423 		JBrowse link
G NKAPD1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:39,775,579...39,787,962
Ensembl chr 9:39,775,676...39,787,969 		JBrowse link
G NPAT nuclear protein, coactivator of histone transcription ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 PMID:31671381 NCBI chr 9:36,554,800...36,620,515
Ensembl chr 9:36,554,671...36,620,446 		JBrowse link
G PDGFD platelet derived growth factor D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:34,388,636...34,621,227
Ensembl chr 9:34,388,643...34,621,244 		JBrowse link
G PGR progesterone receptor ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:32,035,684...32,129,776
Ensembl chr 9:32,035,684...32,129,221 		JBrowse link
G PIH1D2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:39,767,708...39,775,477
Ensembl chr 9:39,765,305...39,775,401 		JBrowse link
G PIWIL4 piwi like RNA-mediated gene silencing 4 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:26,679,960...26,751,856
Ensembl chr 9:26,703,340...26,751,854 		JBrowse link
G POU2AF1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:39,121,422...39,144,636
Ensembl chr 9:39,119,052...39,144,606 		JBrowse link
G POU2AF2 POU class 2 homeobox associating factor 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:39,024,067...39,065,379
Ensembl chr 9:39,024,631...39,062,684 		JBrowse link
G POU2AF3 POU class 2 homeobox associating factor 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:39,071,994...39,081,493
Ensembl chr 9:39,071,706...39,081,486 		JBrowse link
G PPP2R1B protein phosphatase 2 scaffold subunit Abeta ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:39,479,040...39,518,773
Ensembl chr 9:39,480,331...39,517,629 		JBrowse link
G RAB39A RAB39A, member RAS oncogene family ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:36,341,339...36,403,690
Ensembl chr 9:36,341,339...36,403,654 		JBrowse link
G RDX radixin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:38,243,608...38,299,561
Ensembl chr 9:38,220,447...38,322,097 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:39,790,654...39,803,602
Ensembl chr 9:39,790,595...39,803,950 		JBrowse link
G SESN3 sestrin 3 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:27,207,239...27,279,205
Ensembl chr 9:27,207,236...27,298,628 		JBrowse link
G SIK2 salt inducible kinase 2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:39,368,555...39,483,519
Ensembl chr 9:39,368,599...39,483,515 		JBrowse link
G SLC35F2 solute carrier family 35 member F2 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:36,243,059...36,341,361
Ensembl chr 9:36,288,558...36,341,284 		JBrowse link
G SLN sarcolipin ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:36,232,955...36,242,405
Ensembl chr 9:36,232,968...36,242,405 		JBrowse link
G TIMM8B translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:39,788,164...39,790,563
Ensembl chr 9:39,787,405...39,790,718 		JBrowse link
G TMEM123 transmembrane protein 123 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:33,084,820...33,160,346
Ensembl chr 9:33,084,822...33,160,311 		JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:32,332,768...32,439,184
Ensembl chr 9:32,332,771...32,439,184 		JBrowse link
G YAP1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:32,811,629...32,924,926
Ensembl chr 9:32,811,416...32,925,603 		JBrowse link
G ZC3H12C zinc finger CCCH-type containing 12C ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 9:38,133,440...38,209,365
Ensembl chr 9:38,138,004...38,207,027 		JBrowse link
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRE11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder ClinVar PMID:2433832 PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 More... NCBI chr 9:26,572,352...26,634,596
Ensembl chr 9:26,572,361...26,634,567 		JBrowse link
G PCNA proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:14,137,746...14,142,584
Ensembl chr17:14,136,886...14,142,744 		JBrowse link
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 ISO ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3 OMIM
ClinVar		 PMID:22065524 PMID:25741868 PMID:28492532 PMID:33116287 NCBI chr12:53,979,206...54,046,927
Ensembl chr12:53,979,207...54,054,490 		JBrowse link
ataxia-oculomotor apraxia type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNKP polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Ataxia - oculomotor apraxia type 4 | ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 OMIM
ClinVar		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:17576681 More... NCBI chr 6:54,870,359...54,880,814
Ensembl chr 6:54,867,637...54,881,088 		JBrowse link
Ataxia-Telangiectasia Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant ClinVar PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 More... NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552 		JBrowse link
G C9H11orf65 chromosome 9 C11orf65 homolog ISO ClinVar Annotator: match by term: Ataxia - telangiectasia variant ClinVar PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 More... NCBI chr 9:36,768,819...36,855,318
Ensembl chr 9:36,776,897...36,849,710 		JBrowse link
ataxia-telangiectasia-like disorder-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRE11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 | ClinVar Annotator: match by term: MRE11-related condition OMIM
ClinVar		 PMID:2433832 PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 More... NCBI chr 9:26,572,352...26,634,596
Ensembl chr 9:26,572,361...26,634,567 		JBrowse link
ataxia-telangiectasia-like disorder-2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCNA proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 OMIM
ClinVar		 PMID:24911150 PMID:25741868 NCBI chr17:14,137,746...14,142,584
Ensembl chr17:14,136,886...14,142,744 		JBrowse link
atopic dermatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTL9 actin like 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr 2:70,658,141...70,659,497
Ensembl chr 2:70,658,247...70,659,497 		JBrowse link
G ADAM17 ADAM metallopeptidase domain 17 ISO OMIM:603165 MouseDO NCBI chr 3:126,795,513...126,853,995
Ensembl chr 3:126,795,426...126,853,995 		JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943 		JBrowse link
G APOE apolipoprotein E ISO protein:decreased expression:plasma RGD PMID:19116453 RGD:11040546 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330 		JBrowse link
G ARTN artemin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr 6:167,356,363...167,361,370
Ensembl chr 6:167,357,662...167,360,729 		JBrowse link
G BDNF brain derived neurotrophic factor no_association
susceptibility		 ISO DNA:polymorphism:cds:p.V66M(human)
DNA:polymorphism::C270T(human)
mRNA:decreased expression:mast cell
protein:increased expression:serum:		 RGD PMID:17073871 PMID:17845420 PMID:19038326 PMID:19522715 RGD:8657028 RGD:8657065 RGD:8657067 RGD:8657069 NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765 		JBrowse link
G C3 complement C3 ISO protein:increased expression:plasma RGD PMID:3923750 RGD:7401273 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228 		JBrowse link
G CARD11 caspase recruitment domain family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 PMID:28628108 NCBI chr 3:2,145,178...2,266,377
Ensembl chr 3:2,145,178...2,266,355 		JBrowse link
G CASP8 caspase 8 ISO OMIM:603165 MouseDO NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,468 		JBrowse link
G CCDC80 coiled-coil domain containing 80 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr13:147,203,333...147,244,753
Ensembl chr13:147,207,598...147,245,994 		JBrowse link
G CCL11 chemokine (C-C motif) ligand 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr12:40,779,906...40,782,862
Ensembl chr12:40,779,173...40,782,893 		JBrowse link
G CCL17 C-C motif chemokine ligand 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr 6:19,345,929...19,372,972
Ensembl chr 6:19,345,941...19,348,926 		JBrowse link
G CCL20 C-C motif chemokine ligand 20 treatment
severity		 ISO protein:increased expression:plasma RGD PMID:11133838 PMID:19162238 RGD:7483580 RGD:7483583 NCBI chr15:129,172,743...129,176,069 JBrowse link
G CCL22 C-C motif chemokine ligand 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 PMID:22125604 NCBI chr 6:19,296,726...19,301,506
Ensembl chr 6:19,296,637...19,302,737 		JBrowse link
G CCL24 C-C motif chemokine ligand 24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr 3:10,347,397...10,361,500 JBrowse link
G CCL26 C-C motif chemokine ligand 26 ISO protein:increased expression:serum (human) RGD PMID:14616792 RGD:11087554 NCBI chr 3:10,381,306...10,385,677
Ensembl chr 3:10,381,306...10,385,677 		JBrowse link
G CCL27 C-C motif chemokine ligand 27 ISO RGD PMID:12642842 RGD:1626250 NCBI chr10:32,138,232...32,138,980
Ensembl chr10:32,138,232...32,138,974 		JBrowse link
G CCL28 C-C motif chemokine ligand 28 severity ISO associated with Asthma; protein: increased secretion:serum (human) RGD PMID:20161852 RGD:4892193 NCBI chr16:27,990,024...28,010,859
Ensembl chr16:27,985,167...28,010,858 		JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO protein:increased expression:skin,monocyte: RGD PMID:15370700 RGD:8661734 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO protein:increased expression:skin
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:16449815 PMID:18249437 RGD:6893391 NCBI chr13:29,251,950...29,286,470
Ensembl chr13:29,285,012...29,376,343 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16449815 PMID:18249437 RGD:6893391 NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895 		JBrowse link
G CD40 CD40 molecule ISO RGD PMID:18693155 RGD:5132274 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528 		JBrowse link
G CDSN corneodesmosin ISO protein:decreased expression:skin of body (human) RGD PMID:21211653 RGD:42721970 NCBI chr 7:23,520,142...23,524,372
Ensembl chr 7:23,520,142...23,524,372 		JBrowse link
G CLDN1 claudin 1 ISO DNA:SNPs:intron,promoter :rs17501010,rs9290927,rs893051,rs9290929,rs16865373(human) RGD PMID:21163515 RGD:11344875 NCBI chr13:127,714,857...127,730,628
Ensembl chr13:127,712,777...127,730,657 		JBrowse link
G CLDN23 claudin 23 ISO mRNA:decreased expression:epidermis: RGD PMID:21163515 RGD:11344875 NCBI chr17:483,635...484,686
Ensembl chr17:481,527...484,859 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO mRNA:increased expression:blood:
DNA:SNP,haplotype:exon,3'UTR:rs3087243,rs231775 (human)		 RGD PMID:16445777 PMID:22357516 RGD:7411698 RGD:7411700 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103 		JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO protein:increased expression:serum RGD PMID:15131578 RGD:9491761 NCBI chr 6:19,312,351...19,324,439 JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO protein:decreased expression:blood, leukocyte RGD PMID:15131578 PMID:24821910 RGD:9491393 RGD:9491761 NCBI chr13:23,944,386...23,957,567
Ensembl chr13:23,944,369...23,957,486 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948 		JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr  X:57,592,032...57,595,706
Ensembl chr  X:57,592,038...57,595,692 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27869817 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775 		JBrowse link
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 ISO ClinVar Annotator: match by term: Atopic eczema ClinVar PMID:25741868 NCBI chr 2:62,078,403...62,110,891
Ensembl chr 2:62,081,269...62,110,899 		JBrowse link
G DOCK8 dedicator of cytokinesis 8 ISO DNA:mutations:cds: RGD PMID:22476911 RGD:40903056 NCBI chr 1:221,257,771...221,491,889
Ensembl chr 1:221,256,009...221,491,953 		JBrowse link
G EMSY EMSY transcriptional repressor, BRCA2 interacting ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr 9:10,628,053...10,715,814
Ensembl chr 9:10,628,053...10,716,396 		JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:plasma RGD PMID:21488867 RGD:5147756 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137 		JBrowse link
G GLB1 galactosidase beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr13:18,878,407...18,978,999
Ensembl chr13:18,878,612...18,953,146 		JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO RGD PMID:16159638 RGD:5128852 NCBI chr16:66,162,318...66,208,868 JBrowse link
G HNMT histamine N-methyltransferase ISO RGD PMID:19025430 RGD:5128889 NCBI chr15:13,733,412...13,768,106
Ensembl chr15:13,732,680...13,768,199 		JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:18249437 PMID:22101570 PMID:33274957 RGD:8157618 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
G IL10 interleukin 10 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18249437 PMID:23843958 RGD:7364805 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378 		JBrowse link
G IL13 interleukin 13 treatment
severity		 ISO DNA:SNPs: :rs3091307, rs20541 (human)
DNA:SNP:exon:4257G>A (human)
DNA, protein:SNP, increased expression:promoter, serum:-1112C>T (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:10887320 PMID:16672002 PMID:17313488 PMID:18249437 PMID:19006098 More... RGD:5684364 RGD:8549509 RGD:8549529 RGD:8549531 RGD:8549539 RGD:8549583 NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093 		JBrowse link
G IL13RA1 interleukin 13 receptor subunit alpha 1 ISO mRNA:increased expression:skin RGD PMID:14527737 RGD:8549525 NCBI chr  X:97,300,960...97,353,754
Ensembl chr  X:97,300,466...97,356,133 		JBrowse link
G IL13RA2 interleukin 13 receptor subunit alpha 2 ISO protein:increased expression:serum RGD PMID:20971924 PMID:21462799 RGD:8549521 RGD:8549556 NCBI chr  X:94,402,665...94,455,609
Ensembl chr  X:94,402,676...94,439,060 		JBrowse link
G IL17A interleukin 17A severity
treatment		 ISO protein:increased expression:dermis, lymphocyte (human)
protein:increased expression:epidermis (mouse)		 RGD PMID:18432274 PMID:22848348 PMID:24337738 RGD:8698670 RGD:9068417 RGD:9068436 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153 		JBrowse link
G IL18 interleukin 18 severity
no_association		 ISO protein:increased expression:serum
DNA:SNPs, haplotype: :rs795467, rs4937113, rs5744247 (human)
DNA:SNP:promoter:-140C>G (rs360721) (human)
DNA:SNP:promoter:-137G>C (rs187238) (human)		 RGD PMID:11490156 PMID:15317323 PMID:17517100 PMID:22840759 RGD:8655872 RGD:8655876 RGD:8655908 RGD:8655914 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219 		JBrowse link
G IL2 interleukin 2 susceptibility ISO associated with food hypersensitivity;
protein:increased expression:CD8+ T cell:
DNA:SNP:promoter:rs2069762(human)		 RGD PMID:1673687 PMID:7547077 PMID:16333313 PMID:16672002 PMID:21982597 RGD:8549583 RGD:8662961 RGD:8663444 RGD:8663473 RGD:8693325 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609 		JBrowse link
G IL21R interleukin 21 receptor ISO protein:increased expression:skin RGD PMID:19075398 RGD:6892938 NCBI chr 3:19,447,488...19,489,201
Ensembl chr 3:19,443,359...19,489,152 		JBrowse link
G IL23A interleukin 23 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:33274957 NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267 		JBrowse link
G IL25 interleukin 25 ISO protein:increased expression:arm skin RGD PMID:23657503 RGD:39128244 NCBI chr 7:75,710,453...75,717,688
Ensembl chr 7:75,709,995...75,714,355 		JBrowse link
G IL28B interleukin 28B (interferon, lambda 3) ISO CTD Direct Evidence: marker/mechanism CTD PMID:22295096 NCBI chr 6:47,951,925...47,953,282
Ensembl chr 6:47,951,595...47,953,467 		JBrowse link
G IL31 interleukin 31 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr14:30,553,688...30,559,545 JBrowse link
G IL33 interleukin 33 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840 		JBrowse link
G IL4 interleukin 4 ISO DNA:SNP:promoter:-590C>T (human)
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:8363440 PMID:9643293 PMID:11886533 PMID:12230500 PMID:18249437 RGD:7829786 RGD:7829795 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365 		JBrowse link
G IL4R interleukin 4 receptor susceptibility ISO DNA:mutation:cds:p.Q576R(human) RGD PMID:9392697 RGD:11530001 NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544 		JBrowse link
G IL5 interleukin 5 ISO mRNA: increased expression: skin
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:11886533 PMID:18249437 PMID:22299064 PMID:33274957 RGD:5687175 NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 ISO ClinVar Annotator: match by term: Atopic eczema ClinVar NCBI chr 2:41,756,637...41,760,340
Ensembl chr 2:41,757,356...41,765,555 		JBrowse link
G LOC100739508 glutathione S-transferase P-like susceptibility ISO DNA:polymorphism:exon:p.I105V (rs1695) (human)
DNA:polymorphism:exon:p.I105V (rs1695) (human) 		RGD PMID:19842992 PMID:20674822 RGD:5490540 RGD:5490981 NCBI chr 2:5,005,498...5,009,247 JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:18249437
G MAPK8 mitogen-activated protein kinase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24046278 NCBI chr14:88,988,914...89,108,875
Ensembl chr14:88,988,949...89,108,874 		JBrowse link
G MBL2 mannose binding lectin 2 susceptibility ISO DNA:polymorphisms:promoter, exon: RGD PMID:20642202 RGD:8693720 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083 		JBrowse link
G MC1R melanocortin 1 receptor ISO protein: increased expression: skin RGD PMID:19889022 RGD:5687321 NCBI chr 6:181,225...182,187
Ensembl chr 6:181,225...182,187 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:27776525 RGD:13204759 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G MS4A2 membrane spanning 4-domains A2 susceptibility ISO Atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:polymorphism:CDS:amino acid E237G RGD PMID:8817330 RGD:1599903 NCBI chr 2:11,400,415...11,420,314
Ensembl chr 2:11,400,420...11,420,298 		JBrowse link
G NFKBIA NFKB inhibitor alpha ISO OMIM:603165 MouseDO NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277 		JBrowse link
G NFKBIZ NFKB inhibitor zeta ISO OMIM:603165 MouseDO NCBI chr13:157,261,419...157,273,119
Ensembl chr13:157,261,419...157,272,688 		JBrowse link
G NGF nerve growth factor ISO protein:increased expression:serum: RGD PMID:17073871 RGD:8657069 NCBI chr 4:105,256,691...105,307,843
Ensembl chr 4:105,256,749...105,307,837 		JBrowse link
G NGFR nerve growth factor receptor ISO protein:increased expression:nerve fibers of the papillary dermis RGD PMID:16586073 RGD:5508452 NCBI chr12:25,699,410...25,720,355
Ensembl chr12:25,699,427...25,720,356 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO protein:increased expression:eosinophil RGD PMID:17223862 PMID:18647313 RGD:5144116 RGD:5684771 NCBI chr 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,255,981 		JBrowse link
G OVOL1 ovo like transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23042114 NCBI chr 2:6,526,679...6,538,992
Ensembl chr 2:6,526,671...6,538,921 		JBrowse link
G PPARA peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism
potential therapeutic target with or without glucocorticoid therapy		 CTD
RGD		 PMID:18249437 PMID:21633371 RGD:5509940 NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,741...3,364,239 		JBrowse link
G PPIA peptidylprolyl isomerase A ISO mRNA:increased expression:zone of skin (human) RGD PMID:32496587 RGD:150383342 NCBI chr18:50,563,130...50,566,857 JBrowse link
G RELB RELB proto-oncogene, NF-kB subunit ISO OMIM:603165 RGD
MouseDO		 PMID:10940923 RGD:7777149 NCBI chr 6:51,444,670...51,480,350
Ensembl chr 6:51,444,664...51,480,319 		JBrowse link
G S100A8 S100 calcium binding protein A8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18336422 NCBI chr 4:96,209,670...96,210,603
Ensembl chr 4:96,209,659...96,210,602 		JBrowse link
G SELE selectin E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12410700 NCBI chr 4:81,289,061...81,299,657 JBrowse link
G SELP selectin P ISO atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:point_mutation:CDS:amino acid Val640Leu RGD PMID:12929084 RGD:1599904 NCBI chr 4:81,376,804...81,401,240
Ensembl chr 4:81,365,740...81,399,955 		JBrowse link
G SHARPIN SHANK associated RH domain interactor ISO OMIM:603165 MouseDO NCBI chr 4:600,698...605,711
Ensembl chr 4:600,698...605,701 		JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein ISO associated with Noonan syndrome and related diseases; DNA:mutation:cds:c.4A>G (p.S2G)(human) RGD PMID:20882035 RGD:11071178 NCBI chr14:121,347,938...121,444,144
Ensembl chr14:121,349,059...121,444,136 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396 		JBrowse link
G STAT6 signal transducer and activator of transcription 6 ISO CTD Direct Evidence: therapeutic CTD PMID:15306842 NCBI chr 5:22,406,356...22,422,412
Ensembl chr 5:22,406,368...22,421,989 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO RGD PMID:11496247 RGD:7394812 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046 		JBrowse link
G TLR2 toll like receptor 2 severity ISO DNA:polymorphism:cds:p.R753Q(human)
DNA:polymorphism: :-16934A>T(human)		 RGD PMID:17531301 PMID:19627277 PMID:22032785 RGD:8552997 RGD:8552999 RGD:8553048 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330 		JBrowse link
G TLR4 toll like receptor 4 ISO DNA:polymorphism: :896G>A(human)
mRNA:increased expression:blood cell:		 RGD PMID:19764566 PMID:23821954 RGD:7794689 RGD:7794745 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970 		JBrowse link
G TMEM79 transmembrane protein 79 ISO OMIM:603165 MouseDO NCBI chr 4:93,762,176...93,768,840
Ensembl chr 4:93,762,177...93,768,633 		JBrowse link
G TNF tumor necrosis factor susceptibility ISO DNA:haplotype:promoter:−308G>A,-238G>A(human) RGD PMID:22533231 RGD:7401246 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G TNFAIP6 TNF alpha induced protein 6 ISO mRNA:altered expression:fibroblast RGD PMID:16650051 RGD:7777183 NCBI chr15:862,013...881,352
Ensembl chr15:862,015...881,461 		JBrowse link
G TRAF3IP2 TRAF3 interacting protein 2 ISO OMIM:603165 MouseDO NCBI chr 1:77,483,997...77,541,557
Ensembl chr 1:77,487,577...77,541,198 		JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 ISO OMIM:603165 MouseDO NCBI chr12:49,638,852...49,671,671
Ensembl chr12:49,635,927...49,671,613 		JBrowse link
G TSLP thymic stromal lymphopoietin treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16880407 PMID:22355542 PMID:23688403 PMID:27869817 PMID:29310423 RGD:38549374 NCBI chr 2:115,832,152...115,837,572 JBrowse link
G VDR vitamin D receptor severity
no_association		 ISO DNA:SNPs, haplotype: :rs731236, rs1544410, rs7975232 (human)
DNA:SNP: :rs2228570 (human)		 RGD PMID:23034014 RGD:8157625 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475 		JBrowse link
G VNN1 vanin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19322213 NCBI chr 1:31,003,338...31,023,731
Ensembl chr 1:31,000,255...31,024,505 		JBrowse link
G VNN2 vanin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19322213 NCBI chr 1:30,961,520...30,970,945 JBrowse link
G WASL WASP like actin nucleation promoting factor ISO OMIM:603165 MouseDO NCBI chr18:23,722,188...23,789,516
Ensembl chr18:23,722,188...23,789,506 		JBrowse link
Autoinflammation with Arthritis and Dyskeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP1 NLR family pyrin domain containing 1 ISO ClinVar Annotator: match by term: Autoinflammation with arthritis and dyskeratosis ClinVar
OMIM		 PMID:16918630 PMID:17377159 PMID:24033266 PMID:25741868 PMID:27965258 More... NCBI chr12:51,479,968...51,495,540 JBrowse link
Autoinflammation with Episodic Fever and Lymphadenopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RIPK1 receptor interacting serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Autoinflammation with episodic fever and lymphadenopathy | ClinVar Annotator: match by term: RIPK1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31827280 PMID:31827281 NCBI chr 7:1,841,143...1,880,705
Ensembl chr 7:1,841,239...1,880,699 		JBrowse link
Autoinflammation with Infantile Enterocolitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPY30 dpy-30 histone methyltransferase complex regulatory subunit ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 3:107,520,641...107,533,504
Ensembl chr 3:107,520,642...107,533,496 		JBrowse link
G MEMO1 mediator of cell motility 1 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 3:107,542,045...107,657,195
Ensembl chr 3:107,542,096...107,658,455 		JBrowse link
G NLRC4 NLR family CARD domain containing 4 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis | ClinVar Annotator: match by term: Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More... NCBI chr 3:107,358,117...107,389,557 JBrowse link
G SLC30A6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 3:107,387,875...107,426,330
Ensembl chr 3:107,387,860...107,426,337 		JBrowse link
G SPAST spastin ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 3:107,439,810...107,508,915
Ensembl chr 3:107,439,813...107,508,926 		JBrowse link
G SRD5A2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 3:107,840,200...107,918,351
Ensembl chr 3:107,840,200...107,918,350 		JBrowse link
G XDH xanthine dehydrogenase ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,987,126...108,053,169 		JBrowse link
Autoinflammation with Pulmonary and Cutaneous Vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HCK HCK proto-oncogene, Src family tyrosine kinase ISO ClinVar Annotator: match by term: Autoinflammation with pulmonary and cutaneous vasculitis OMIM
ClinVar		 PMID:34536415 NCBI chr17:35,708,549...35,751,590
Ensembl chr17:35,709,349...35,751,582 		JBrowse link
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLCG2 phospholipase C gamma 2 ISO ClinVar Annotator: match by term: Autoinflammation, antibody deficiency, and immune dysregulation syndrome | ClinVar Annotator: match by term: Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated OMIM
ClinVar		 PMID:16199547 PMID:23000145 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 6:6,433,146...6,603,092
Ensembl chr 6:6,433,153...6,603,060 		JBrowse link
Autoinflammation, Immune Dysregulation, and Eosinophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL9A3 collagen type IX alpha 3 chain ISO Oculoskeletal dysplasia 1 OMIA PMID:830631 PMID:1525714 PMID:3204050 PMID:20686772 PMID:22065099 More... NCBI chr17:62,074,108...62,094,228
Ensembl chr17:62,074,855...62,093,703 		JBrowse link
G JAK1 Janus kinase 1 ISO ClinVar Annotator: match by term: Autoinflammation, immune dysregulation, and eosinophilia | ClinVar Annotator: match by term: JAK1-related condition OMIM
ClinVar		 PMID:20167706 PMID:24728327 PMID:25356970 PMID:25741868 PMID:28111307 More... NCBI chr 6:147,320,288...147,567,188
Ensembl chr 6:147,429,056...147,567,182 		JBrowse link
AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DOCK11 dedicator of cytokinesis 11 ISO ClinVar Annotator: match by term: DOCK11 deficiency | ClinVar Annotator: match by term: Inborn error of hematopoiesis and immunity with systemic inflammation and normocytic anemia OMIM
ClinVar		 PMID:25741868 PMID:36952639 PMID:37342957 NCBI chr  X:97,068,488...97,267,528
Ensembl chr  X:97,068,355...97,267,517 		JBrowse link
AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNASE2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Autoinflammatory-pancytopenia syndrome | ClinVar Annotator: match by term: DNASE2-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24242851 PMID:25741868 PMID:28492532 More... NCBI chr 2:66,150,071...66,152,857
Ensembl chr 2:66,149,862...66,152,855 		JBrowse link
autosomal dominant cutis laxa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:107,174,062...107,221,373
Ensembl chr14:107,170,689...107,221,215 		JBrowse link
G ELN elastin ISO ClinVar Annotator: match by term: Cutis laxa, autosomal dominant ClinVar PMID:11175284 PMID:12555228 PMID:16894468 PMID:19029017 PMID:24033266 More... NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897 		JBrowse link
G FBLN5 fibulin 5 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal dominant ClinVar PMID:3232707 PMID:12189163 PMID:16374472 PMID:16652333 PMID:16691202 More... NCBI chr 7:113,423,629...113,526,412
Ensembl chr 7:113,423,632...113,512,198 		JBrowse link
autosomal dominant cutis laxa 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELN elastin ISO ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 1 OMIM
ClinVar		 PMID:5046633 PMID:7884000 PMID:8091333 PMID:9215670 PMID:9215671 More... NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897 		JBrowse link
autosomal dominant cutis laxa 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBLN5 fibulin 5 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 2 OMIM
ClinVar		 PMID:12618961 PMID:21576112 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 7:113,423,629...113,526,412
Ensembl chr 7:113,423,632...113,512,198 		JBrowse link
autosomal dominant cutis laxa 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 3 OMIM
ClinVar		 PMID:8779323 PMID:9536098 PMID:9643297 PMID:11092761 PMID:16199547 More... NCBI chr14:107,174,062...107,221,373
Ensembl chr14:107,170,689...107,221,215 		JBrowse link
Autosomal Dominant Dyskeratosis Congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RTEL1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita autosomal dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr17:62,611,844...62,636,628
Ensembl chr17:62,611,909...62,634,690 		JBrowse link
G TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Dyskeratosis congenita autosomal dominant ClinVar PMID:20301779 PMID:21436073 PMID:24833766 PMID:25741868 PMID:26136524 More... NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:75,056,790...75,067,895
Ensembl chr 7:75,056,798...75,063,979 		JBrowse link
autosomal dominant dyskeratosis congenita 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTRT3 actin related protein T3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr13:108,429,745...108,434,366
Ensembl chr13:108,428,986...108,435,383 		JBrowse link
G GPR160 G protein-coupled receptor 160 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr13:108,746,315...108,794,150
Ensembl chr13:108,748,145...108,793,348 		JBrowse link
G INPP4A inositol polyphosphate-4-phosphatase type I A ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:15849264 PMID:21931702 PMID:25741868 NCBI chr 3:55,711,025...55,779,579
Ensembl chr 3:55,711,031...55,834,367 		JBrowse link
G LRRC31 leucine rich repeat containing 31 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr13:108,521,042...108,550,292
Ensembl chr13:108,521,018...108,542,334 		JBrowse link
G LRRC34 leucine rich repeat containing 34 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr13:108,451,559...108,487,116
Ensembl chr13:108,458,560...108,487,113 		JBrowse link
G LRRIQ4 leucine rich repeats and IQ motif containing 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr13:108,500,055...108,520,792
Ensembl chr13:108,487,546...108,519,806 		JBrowse link
G MECOM MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:25741868 PMID:27192671 NCBI chr13:107,753,207...108,336,136
Ensembl chr13:107,754,482...108,335,702 		JBrowse link
G MYNN myoneurin ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr13:108,435,194...108,452,699
Ensembl chr13:108,435,324...108,457,226 		JBrowse link
G PHC3 polyhomeotic homolog 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr13:108,791,675...108,883,620
Ensembl chr13:108,776,220...108,883,572 		JBrowse link
G PRKCI protein kinase C iota ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr13:108,913,018...108,997,934
Ensembl chr13:108,913,173...108,997,931 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita Scoggins type | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29344583 More... NCBI chr17:62,611,844...62,636,628
Ensembl chr17:62,611,909...62,634,690 		JBrowse link
G SAMD7 sterile alpha motif domain containing 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr13:108,622,402...108,641,412
Ensembl chr13:108,610,172...108,642,120 		JBrowse link
G SEC62 SEC62 homolog, preprotein translocation factor ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr13:108,660,486...108,688,307
Ensembl chr13:108,660,450...108,691,595 		JBrowse link
G SKIL SKI like proto-oncogene ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr13:109,029,831...109,059,176
Ensembl chr13:109,029,952...109,059,173 		JBrowse link
G TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Dyskeratosis congenita Scoggins type | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:12167716 PMID:15885610 PMID:16247010 PMID:18042801 PMID:18635888 More... NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421 		JBrowse link
G TGM1 transglutaminase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:18669893 PMID:20301779 PMID:21199492 PMID:22211879 PMID:25741868 More... NCBI chr 7:75,030,123...75,045,157
Ensembl chr 7:75,029,923...75,047,300 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:18252230 PMID:18669893 PMID:19090550 PMID:20301779 PMID:21199492 More... NCBI chr 7:75,056,790...75,067,895
Ensembl chr 7:75,056,798...75,063,979 		JBrowse link
autosomal dominant dyskeratosis congenita 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRD9 bromodomain containing 9 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr16:79,473,750...79,492,638
Ensembl chr16:79,473,745...79,492,635 		JBrowse link
G CEP72 centrosomal protein 72 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr16:79,559,046...79,591,262
Ensembl chr16:79,559,046...79,591,249 		JBrowse link
G CLPTM1L CLPTM1 like ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr16:79,237,000...79,248,503
Ensembl chr16:79,237,061...79,248,500 		JBrowse link
G IRX4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr16:78,940,033...78,944,855
Ensembl chr16:78,937,566...78,945,269 		JBrowse link
G LPCAT1 lysophosphatidylcholine acyltransferase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr16:79,134,396...79,173,775
Ensembl chr16:79,134,465...79,173,772 		JBrowse link
G MRPL36 mitochondrial ribosomal protein L36 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr16:79,001,488...79,002,781
Ensembl chr16:79,001,549...79,004,358 		JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr16:78,993,909...79,000,001
Ensembl chr16:78,993,913...79,000,006 		JBrowse link
G NKD2 NKD inhibitor of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr16:79,400,323...79,419,779
Ensembl chr16:79,400,997...79,419,759 		JBrowse link
G SLC12A7 solute carrier family 12 member 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr16:79,356,868...79,396,652
Ensembl chr16:79,357,010...79,396,656 		JBrowse link
G SLC6A18 solute carrier family 6 member 18 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr16:79,278,126...79,292,463
Ensembl chr16:79,277,696...79,292,530 		JBrowse link
G SLC6A19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr16:79,293,940...79,310,922
Ensembl chr16:79,293,943...79,310,922 		JBrowse link
G SLC6A3 solute carrier family 6 member 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr16:79,186,114...79,220,302
Ensembl chr16:79,186,108...79,220,297 		JBrowse link
G SLC9A3 solute carrier family 9 member A3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr16:79,625,555...79,704,084
Ensembl chr16:79,666,825...79,700,658 		JBrowse link
G TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 OMIM
ClinVar		 PMID:9536098 PMID:12167716 PMID:12629597 PMID:15814878 PMID:15885610 More... NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421 		JBrowse link
G TPPP tubulin polymerization promoting protein ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr16:79,535,037...79,556,383
Ensembl chr16:79,542,928...79,556,382 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr16:79,458,843...79,473,705
Ensembl chr16:79,458,847...79,473,712 		JBrowse link
G ZDHHC11 zinc finger DHHC-type containing 11 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2 ClinVar PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532 NCBI chr16:79,501,510...79,528,010 JBrowse link
autosomal dominant dyskeratosis congenita 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TGM1 transglutaminase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 3 ClinVar PMID:18669893 PMID:20301779 PMID:21199492 PMID:22211879 PMID:25741868 More... NCBI chr 7:75,030,123...75,045,157
Ensembl chr 7:75,029,923...75,047,300 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 3 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18252230 PMID:18669893 PMID:18979121 More... NCBI chr 7:75,056,790...75,067,895
Ensembl chr 7:75,056,798...75,063,979 		JBrowse link
autosomal dominant dyskeratosis congenita 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RTEL1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 4 ClinVar PMID:23329068 PMID:23453664 PMID:23959892 PMID:25326637 PMID:25607374 More... NCBI chr17:62,611,844...62,636,628
Ensembl chr17:62,611,909...62,634,690 		JBrowse link
autosomal dominant dyskeratosis congenita 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:13,298,336...13,321,423
Ensembl chr 6:13,298,330...13,321,383 		JBrowse link
G ACD ACD shelterin complex subunit and telomerase recruitment factor ISO ClinVar Annotator: match by term: ACD-related condition | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 7 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25205116 PMID:25233904 More... NCBI chr 6:28,277,649...28,280,409
Ensembl chr 6:28,277,614...28,280,405 		JBrowse link
G AGRP agouti related neuropeptide ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,132,614...28,135,594
Ensembl chr 6:28,132,615...28,134,900 		JBrowse link
G AP1G1 adaptor related protein complex 1 subunit gamma 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:14,719,949...14,809,821
Ensembl chr 6:14,719,959...14,809,491 		JBrowse link
G ATP6V0D1 ATPase H+ transporting V0 subunit d1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,090,180...28,132,080
Ensembl chr 6:28,090,183...28,131,985 		JBrowse link
G ATXN1L ataxin 1 like ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:14,836,732...14,848,474
Ensembl chr 6:14,836,752...14,848,422 		JBrowse link
G B3GNT9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,791,387...27,797,458
Ensembl chr 6:27,792,134...27,795,361 		JBrowse link
G BEAN1 brain expressed associated with NEDD4 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,176,023...27,217,749
Ensembl chr 6:27,176,024...27,215,367 		JBrowse link
G C6H16orf86 chromosome 6 C16orf86 homolog ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,287,414...28,289,248
Ensembl chr 6:28,287,414...28,289,406 		JBrowse link
G CA7 carbonic anhydrase 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,548,647...27,563,966
Ensembl chr 6:27,548,706...27,563,861 		JBrowse link
G CALB2 calbindin 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:14,392,220...14,420,663
Ensembl chr 6:14,391,857...14,420,663 		JBrowse link
G CARMIL2 capping protein regulator and myosin 1 linker 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,265,130...28,277,649
Ensembl chr 6:28,265,135...28,277,641 		JBrowse link
G CBFB core-binding factor subunit beta ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,684,320...27,750,856
Ensembl chr 6:27,684,030...27,750,852 		JBrowse link
G CDH1 cadherin 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986 		JBrowse link
G CDH16 cadherin 16 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,589,183...27,599,002
Ensembl chr 6:27,589,184...27,598,987 		JBrowse link
G CDH3 cadherin 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:18,190,971...18,236,184
Ensembl chr 6:18,191,664...18,235,862 		JBrowse link
G CDH5 cadherin 5 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,108,560...27,142,145
Ensembl chr 6:27,108,597...27,142,177 		JBrowse link
G CENPT centromere protein T ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,450,568...28,456,620
Ensembl chr 6:28,450,569...28,456,229 		JBrowse link
G CES3 carboxylesterase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,627,712...27,637,827
Ensembl chr 6:27,627,742...27,638,760 		JBrowse link
G CHST4 carbohydrate sulfotransferase 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:14,532,379...14,544,502
Ensembl chr 6:14,535,849...14,546,972 		JBrowse link
G CIAO2B cytosolic iron-sulfur assembly component 2B ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,610,469...27,612,617
Ensembl chr 6:27,610,470...27,612,592 		JBrowse link
G CKLF chemokine like factor ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,258,392...27,267,701
Ensembl chr 6:27,258,551...27,267,753 		JBrowse link
G CLEC18C C-type lectin domain family 18 member C ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:13,265,775...13,280,353 JBrowse link
G CMTM2 CKLF like MARVEL transmembrane domain containing 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,281,809...27,295,429
Ensembl chr 6:27,282,070...27,295,522 		JBrowse link
G CMTM3 CKLF like MARVEL transmembrane domain containing 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,308,146...27,320,449
Ensembl chr 6:27,308,141...27,317,308 		JBrowse link
G CMTM4 CKLF like MARVEL transmembrane domain containing 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,319,074...27,391,478
Ensembl chr 6:27,320,364...27,391,471 		JBrowse link
G CMTR2 cap methyltransferase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:14,325,869...14,334,043
Ensembl chr 6:14,323,981...14,334,008 		JBrowse link
G COG4 component of oligomeric golgi complex 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:13,492,876...13,524,442
Ensembl chr 6:13,490,116...13,524,452 		JBrowse link
G COG8 component of oligomeric golgi complex 8 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:17,645,544...17,652,301
Ensembl chr 6:17,645,590...17,650,481 		JBrowse link
G CTCF CCCTC-binding factor ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,188,002...28,261,009
Ensembl chr 6:28,195,647...28,261,009 		JBrowse link
G CTRL chymotrypsin like ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,540,187...28,542,820
Ensembl chr 6:28,540,808...28,542,773 		JBrowse link
G CYB5B cytochrome b5 type B ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:17,522,587...17,558,030
Ensembl chr 6:17,519,289...17,558,181 		JBrowse link
G DDX19B DEAD-box helicase 19B ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:13,328,241...13,358,139
Ensembl chr 6:13,325,351...13,359,459 		JBrowse link
G DDX28 DEAD-box helicase 28 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,615,461...28,617,443
Ensembl chr 6:28,615,330...28,617,335 		JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:14,942,898...14,956,000
Ensembl chr 6:14,942,933...14,955,997 		JBrowse link
G DHX38 DEAH-box helicase 38 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:14,998,091...15,016,380
Ensembl chr 6:14,998,293...15,016,378 		JBrowse link
G DPEP2 dipeptidase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,593,542...28,599,076
Ensembl chr 6:28,593,546...28,599,051 		JBrowse link
G DPEP3 dipeptidase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,583,037...28,586,856
Ensembl chr 6:28,583,317...28,587,773 		JBrowse link
G DUS2 dihydrouridine synthase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,617,350...28,661,313
Ensembl chr 6:28,617,408...28,661,319 		JBrowse link
G DYNC1LI2 dynein cytoplasmic 1 light intermediate chain 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,416,475...27,446,172
Ensembl chr 6:27,416,477...27,446,360 		JBrowse link
G E2F4 E2F transcription factor 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,834,356...27,841,419
Ensembl chr 6:27,834,411...27,841,416 		JBrowse link
G EDC4 enhancer of mRNA decapping 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,489,427...28,501,511
Ensembl chr 6:28,489,422...28,501,510 		JBrowse link
G ELMO3 engulfment and cell motility 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,841,559...27,846,332
Ensembl chr 6:27,841,624...27,846,330 		JBrowse link
G ENKD1 enkurin domain containing 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,283,108...28,289,266
Ensembl chr 6:28,283,117...28,287,306 		JBrowse link
G ESRP2 epithelial splicing regulatory protein 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,804,425...28,814,478
Ensembl chr 6:28,802,651...28,812,963 		JBrowse link
G EXOC3L1 exocyst complex component 3 like 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,827,268...27,832,553
Ensembl chr 6:27,827,350...27,832,452 		JBrowse link
G EXOSC6 exosome component 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:13,295,591...13,296,942
Ensembl chr 6:13,295,125...13,296,914 		JBrowse link
G FBXL8 F-box and leucine rich repeat protein 8 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,803,581...27,813,404
Ensembl chr 6:27,803,590...27,807,788 		JBrowse link
G FCSK fucose kinase ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:13,471,771...13,492,581
Ensembl chr 6:13,471,833...13,506,419 		JBrowse link
G FHOD1 formin homology 2 domain containing 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,867,499...27,883,077
Ensembl chr 6:27,867,502...27,883,079 		JBrowse link
G GFOD2 Gfo/Idh/MocA-like oxidoreductase domain containing 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,293,957...28,348,197
Ensembl chr 6:28,293,967...28,348,161 		JBrowse link
G HAS3 hyaluronan synthase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:17,844,974...17,870,331
Ensembl chr 6:17,843,882...17,853,210 		JBrowse link
G HP haptoglobin ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,084,087...28,089,256
Ensembl chr 6:28,083,955...28,089,671 		JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:13,895,276...14,307,790 JBrowse link
G IL34 interleukin 34 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:13,588,748...13,679,864
Ensembl chr 6:13,588,787...13,659,895 		JBrowse link
G IST1 IST1 factor associated with ESCRT-III ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:14,868,859...14,910,679
Ensembl chr 6:14,836,752...14,911,311 		JBrowse link
G KCTD19 potassium channel tetramerization domain containing 19 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,932,783...27,966,294
Ensembl chr 6:27,931,930...27,966,277 		JBrowse link
G LCAT lecithin-cholesterol acyltransferase ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,550,356...28,553,561
Ensembl chr 6:28,550,358...28,553,566 		JBrowse link
G LOC100523672 heat shock factor protein 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,808,658...27,818,256
Ensembl chr 6:27,808,652...27,818,750 		JBrowse link
G LOC110260932 CKLF-like MARVEL transmembrane domain-containing protein 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,267,733...27,281,657 JBrowse link
G LRRC29 Leucine-rich repeat-containing protein 29 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,848,524...27,864,471
Ensembl chr 6:27,848,526...27,851,395 		JBrowse link
G LRRC36 leucine rich repeat containing 36 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,965,253...28,051,798
Ensembl chr 6:27,966,365...28,038,168 		JBrowse link
G MARVELD3 MARVEL domain containing 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:14,616,508...14,630,798
Ensembl chr 6:14,616,481...14,625,983 		JBrowse link
G MATCAP1 microtubule associated tyrosine carboxypeptidase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,818,257...27,826,896
Ensembl chr 6:27,818,262...27,824,777 		JBrowse link
G MIR140 microRNA mir-140 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:17,077,530...17,077,599
Ensembl chr 6:17,077,507...17,077,620 		JBrowse link
G MTSS2 MTSS I-BAR domain containing 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:13,660,388...13,682,311
Ensembl chr 6:13,660,392...13,682,316 		JBrowse link
G NAE1 NEDD8 activating enzyme E1 subunit 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,511,541...27,540,142
Ensembl chr 6:27,450,632...27,540,118 		JBrowse link
G NFAT5 nuclear factor of activated T cells 5 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:17,313,511...17,434,951
Ensembl chr 6:17,313,413...17,434,940 		JBrowse link
G NFATC3 nuclear factor of activated T cells 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,666,458...28,806,432
Ensembl chr 6:28,666,549...28,806,419 		JBrowse link
G NIP7 nucleolar pre-rRNA processing protein NIP7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:17,642,092...17,645,404
Ensembl chr 6:17,635,548...17,645,422 		JBrowse link
G NOB1 NIN1 (RPN12) binding protein 1 homolog ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:17,233,863...17,245,451
Ensembl chr 6:17,233,858...17,245,451 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,770...17,302,590 		JBrowse link
G NRN1L neuritin 1 like ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,501,664...28,506,234
Ensembl chr 6:28,501,697...28,503,347 		JBrowse link
G NUTF2 nuclear transport factor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,469,274...28,489,007
Ensembl chr 6:28,469,505...28,489,005 		JBrowse link
G PARD6A par-6 family cell polarity regulator alpha ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,280,502...28,282,923
Ensembl chr 6:28,280,502...28,283,788 		JBrowse link
G PDF peptide deformylase, mitochondrial ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:17,652,297...17,658,257
Ensembl chr 6:17,652,356...17,654,740 		JBrowse link
G PDP2 pyruvate dehydrogenase phosphatase catalytic subunit 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,565,423...27,572,868
Ensembl chr 6:27,565,450...27,575,455 		JBrowse link
G PDPR pyruvate dehydrogenase phosphatase regulatory subunit ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:13,187,377...13,230,601
Ensembl chr 6:13,187,427...13,227,033 		JBrowse link
G PHAF1 phagosome assembly factor 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,757,576...27,792,564
Ensembl chr 6:27,757,582...27,792,565 		JBrowse link
G PHLPP2 PH domain and leucine rich repeat protein phosphatase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:14,633,756...14,715,921
Ensembl chr 6:14,633,751...14,715,965 		JBrowse link
G PLA2G15 phospholipase A2 group XV ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,820,620...28,832,768
Ensembl chr 6:28,820,668...28,832,767 		JBrowse link
G PLEKHG4 pleckstrin homology and RhoGEF domain containing G4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,921,598...27,932,680
Ensembl chr 6:27,923,617...27,933,153 		JBrowse link
G PRMT7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,883,148...28,945,904
Ensembl chr 6:28,883,646...28,945,905 		JBrowse link
G PSKH1 protein serine kinase H1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,508,785...28,544,063
Ensembl chr 6:28,508,823...28,544,062 		JBrowse link
G PSMB10 proteasome 20S subunit beta 10 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,544,910...28,547,609
Ensembl chr 6:28,543,972...28,548,152 		JBrowse link
G RANBP10 RAN binding protein 10 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,352,001...28,428,383
Ensembl chr 6:28,352,003...28,428,370 		JBrowse link
G RIPOR1 RHO family interacting cell polarization regulator 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,156,508...28,183,640
Ensembl chr 6:28,132,115...28,183,780 		JBrowse link
G RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,601,692...27,605,127
Ensembl chr 6:27,601,695...27,605,083 		JBrowse link
G SF3B3 splicing factor 3b subunit 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:13,524,519...13,578,681
Ensembl chr 6:13,524,717...13,578,680 		JBrowse link
G SLC12A4 solute carrier family 12 member 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,554,162...28,576,458
Ensembl chr 6:28,553,616...28,576,504 		JBrowse link
G SLC7A6 solute carrier family 7 member 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,834,797...28,876,154 JBrowse link
G SLC7A6OS solute carrier family 7 member 6 opposite strand ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,874,220...28,883,572
Ensembl chr 6:28,872,665...28,883,548 		JBrowse link
G SLC9A5 solute carrier family 9 member A5 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,883,163...27,904,076
Ensembl chr 6:27,884,592...27,904,075 		JBrowse link
G SMPD3 sphingomyelin phosphodiesterase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,938,287...29,025,397
Ensembl chr 6:28,938,290...29,025,357 		JBrowse link
G SNTB2 syntrophin beta 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:17,674,587...17,774,550
Ensembl chr 6:17,681,837...17,774,527 		JBrowse link
G ST3GAL2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:13,402,336...13,456,495
Ensembl chr 6:13,402,345...13,419,378 		JBrowse link
G TANGO6 transport and golgi organization 6 homolog ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:17,870,050...18,071,555
Ensembl chr 6:17,869,929...18,071,522 		JBrowse link
G TAT tyrosine aminotransferase ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:14,571,311...14,583,203
Ensembl chr 6:14,570,589...14,583,177 		JBrowse link
G TERB1 telomere repeat binding bouquet formation protein 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,450,923...27,509,969
Ensembl chr 6:27,450,632...27,540,118 		JBrowse link
G TERF2 telomeric repeat binding factor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:17,605,748...17,631,795
Ensembl chr 6:17,605,763...17,631,721 		JBrowse link
G THAP11 THAP domain containing 11 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,465,458...28,466,387
Ensembl chr 6:28,465,208...28,467,074 		JBrowse link
G TK2 thymidine kinase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,226,421...27,255,645
Ensembl chr 6:27,226,425...27,255,574 		JBrowse link
G TMED6 transmembrane p24 trafficking protein 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:17,633,653...17,641,915
Ensembl chr 6:17,634,366...17,641,903 		JBrowse link
G TMEM208 transmembrane protein 208 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,864,337...27,867,229
Ensembl chr 6:27,853,452...27,867,226 		JBrowse link
G TPPP3 tubulin polymerization promoting protein family member 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,045,433...28,051,141
Ensembl chr 6:28,045,438...28,046,998 		JBrowse link
G TRADD TNFRSF1A associated via death domain ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:27,797,594...27,804,654
Ensembl chr 6:27,797,607...27,804,423 		JBrowse link
G TSNAXIP1 translin associated factor X interacting protein 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,428,531...28,453,743
Ensembl chr 6:28,428,917...28,450,563 		JBrowse link
G TXNL4B thioredoxin like 4B ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:14,985,063...14,998,077
Ensembl chr 6:14,985,474...14,998,017 		JBrowse link
G UTP4 UTP4 small subunit processome component ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:17,784,908...17,818,417
Ensembl chr 6:17,778,556...17,818,132 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:13,683,800...13,791,246
Ensembl chr 6:13,683,801...13,791,241 		JBrowse link
G VPS4A vacuolar protein sorting 4 homolog A ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:17,657,792...17,669,560
Ensembl chr 6:17,654,638...17,669,841 		JBrowse link
G WWP2 WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:17,068,780...17,227,982
Ensembl chr 6:17,066,799...17,227,926 		JBrowse link
G ZDHHC1 zinc finger DHHC-type containing 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:28,046,099...28,071,535
Ensembl chr 6:28,049,949...28,071,540 		JBrowse link
G ZFP90 ZFP90 zinc finger protein ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:18,312,931...18,335,458
Ensembl chr 6:18,312,935...18,335,458 		JBrowse link
G ZNF19 zinc finger protein 19 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:14,463,135...14,486,480 JBrowse link
G ZNF23 zinc finger protein 23 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:14,463,135...14,480,783
Ensembl chr 6:14,463,304...14,480,863 		JBrowse link
G ZNF821 zinc finger protein 821 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:14,850,255...14,870,319
Ensembl chr 6:14,850,252...14,869,793 		JBrowse link
autosomal dominant dystrophic epidermolysis bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant OMIM
ClinVar		 PMID:1680286 PMID:7577595 PMID:7695699 PMID:7833933 PMID:7861014 More... NCBI chr13:31,262,750...31,295,112 JBrowse link
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:16098032 More... NCBI chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
G LOC110255312 keratin, type I cytoskeletal 14 ISO ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa ClinVar PMID:25741868 PMID:28492532 NCBI chr12:21,074,965...21,079,393
Ensembl chr12:21,024,314...21,119,396 		JBrowse link
autosomal dominant familial periodic fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCNN1A sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar PMID:25741868 NCBI chr 5:64,287,529...64,312,917
Ensembl chr 5:64,285,015...64,313,612 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Autosomal Dominant Familial Periodic Fever | ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) ClinVar
OMIM		 PMID:1144354 PMID:1402641 PMID:7156325 PMID:9529351 PMID:9536098 More... NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909 		JBrowse link
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPATA22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: Olmsted syndrome 1 ClinVar NCBI chr12:49,573,050...49,609,232
Ensembl chr12:49,576,835...49,608,237 		JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 ISO ClinVar Annotator: match by term: Olmsted syndrome 1 OMIM
ClinVar		 PMID:22405088 PMID:24452206 PMID:25741868 PMID:27273692 PMID:28492532 More... NCBI chr12:49,638,852...49,671,671
Ensembl chr12:49,635,927...49,671,613 		JBrowse link
autosomal recessive congenital ichthyosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA12 ATP binding cassette subfamily A member 12 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Congenital ichthyosis of skin | ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar PMID:9536098 PMID:15756637 PMID:17508018 PMID:17576681 PMID:17684380 More... NCBI chr15:117,244,704...117,451,009
Ensembl chr15:117,244,719...117,450,863 		JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar PMID:9536098 PMID:16116617 PMID:16199547 PMID:17139268 PMID:17576681 More... NCBI chr12:53,292,530...53,302,850
Ensembl chr12:53,292,526...53,302,993 		JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar PMID:11398099 PMID:11773004 PMID:16116617 PMID:19131948 PMID:19890349 More... NCBI chr12:53,309,845...53,331,780
Ensembl chr12:53,309,848...53,331,523 		JBrowse link
G CERS3 ceramide synthase 3 ISO ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar PMID:28875980 PMID:30578701 PMID:33492757 NCBI chr 1:139,027,604...139,154,830
Ensembl chr 1:139,030,642...139,136,874 		JBrowse link
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar PMID:16436457 PMID:23621129 PMID:25741868 PMID:25998749 PMID:26056268 More... NCBI chr 2:62,078,403...62,110,891
Ensembl chr 2:62,081,269...62,110,899 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO trichothiodystrophy,OMIM:601675;DNA:point mutation:exon:A725P RGD PMID:9195225 RGD:1601069 NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553 		JBrowse link
G NIPAL4 NIPA like domain containing 4 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar PMID:15317751 PMID:17557927 PMID:19434086 PMID:20016120 PMID:20301593 More... NCBI chr16:65,814,588...65,831,788
Ensembl chr16:65,815,295...65,829,296 		JBrowse link
G PNPLA1 patatin like phospholipase domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar PMID:3757302 PMID:22246504 PMID:24344921 PMID:25741868 PMID:26691440 More... NCBI chr 7:31,987,596...32,025,673
Ensembl chr 7:31,988,197...32,025,245 		JBrowse link
G SDR9C7 short chain dehydrogenase/reductase family 9C member 7 ISO ClinVar Annotator: match by term: Congenital ichthyosis of skin | ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar PMID:25741868 PMID:28369735 PMID:28492532 PMID:28906551 PMID:31012992 More... NCBI chr 5:22,228,041...22,251,622
Ensembl chr 5:22,228,042...22,244,528 		JBrowse link
G SLC27A4 solute carrier family 27 member 4 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar PMID:19631310 PMID:21450060 PMID:22927265 PMID:25741868 PMID:26783444 More... NCBI chr 1:268,773,792...268,788,208
Ensembl chr 1:268,773,806...268,788,731 		JBrowse link
G TGM1 transglutaminase 1 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar PMID:7581379 PMID:7773290 PMID:7824952 PMID:9178327 PMID:9261103 More... NCBI chr 7:75,030,123...75,045,157
Ensembl chr 7:75,029,923...75,047,300 		JBrowse link
G UGCG UDP-glucose ceramide glucosyltransferase ISO ClinVar Annotator: match by term: Congenital nonbullous ichthyosiform erythroderma ClinVar PMID:29417556 NCBI chr 1:252,651,850...252,690,817
Ensembl chr 1:252,651,879...252,688,550 		JBrowse link
autosomal recessive congenital ichthyosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA12 ATP binding cassette subfamily A member 12 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:12915478 PMID:16675967 RGD:1598548 NCBI chr15:117,244,704...117,451,009
Ensembl chr15:117,244,719...117,450,863 		JBrowse link
G ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase susceptibility ISO RGD PMID:11590543 RGD:1598668 NCBI chr13:27,006,331...27,053,760
Ensembl chr13:27,006,208...27,056,744 		JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type ISO CTD Direct Evidence: marker/mechanism CTD PMID:21739938 NCBI chr12:53,292,530...53,302,850
Ensembl chr12:53,292,526...53,302,993 		JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 susceptibility ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:11773004 PMID:21739938 RGD:1599073 NCBI chr12:53,309,845...53,331,780
Ensembl chr12:53,309,848...53,331,523 		JBrowse link
G SULT2B1 sulfotransferase family 2B member 1 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 ClinVar PMID:28575648 NCBI chr 6:53,928,248...53,963,443
Ensembl chr 6:53,928,248...53,963,443 		JBrowse link
G TGM1 transglutaminase 1 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar Annotator: match by term: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION | ClinVar Annotator: match by term: Lamellar ichthyosis, type 1 OMIM
ClinVar		 PMID:7581379 PMID:7773290 PMID:7824952 PMID:9178327 PMID:9261103 More... NCBI chr 7:75,030,123...75,045,157
Ensembl chr 7:75,029,923...75,047,300 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 ClinVar PMID:18669893 PMID:20301779 PMID:21199492 PMID:22211879 PMID:25741868 More... NCBI chr 7:75,056,790...75,067,895
Ensembl chr 7:75,056,798...75,063,979 		JBrowse link
autosomal recessive congenital ichthyosis 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10 ClinVar PMID:9425895 PMID:19453707 PMID:23708187 PMID:24375629 PMID:25741868 More... NCBI chr17:62,459,277...62,506,403
Ensembl chr17:62,459,281...62,506,424 		JBrowse link
G PNPLA1 patatin like phospholipase domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10 | ClinVar Annotator: match by term: PNPLA1-related condition OMIM
ClinVar		 PMID:3757302 PMID:22246504 PMID:23352160 PMID:24033266 PMID:24344921 More... NCBI chr 7:31,987,596...32,025,673
Ensembl chr 7:31,988,197...32,025,245 		JBrowse link
autosomal recessive congenital ichthyosis 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ST14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 11 OMIM
ClinVar		 PMID:9450882 PMID:12207612 PMID:17273967 PMID:18445049 PMID:18843291 More... NCBI chr 9:56,888,246...56,929,771
Ensembl chr 9:56,888,246...56,929,767 		JBrowse link
Autosomal Recessive Congenital Ichthyosis 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASP14 caspase 14 ISO ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 12 OMIM
ClinVar		 PMID:25741868 PMID:27494380 PMID:28492532 NCBI chr 2:62,522,294...62,531,594
Ensembl chr 2:62,524,183...62,531,642 		JBrowse link
autosomal recessive congenital ichthyosis 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SDR9C7 short chain dehydrogenase/reductase family 9C member 7 ISO ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 13 | ClinVar Annotator: match by term: SDR9C7-related condition OMIM
ClinVar		 PMID:25741868 PMID:28173123 PMID:28369735 PMID:28492532 PMID:28906551 More... NCBI chr 5:22,228,041...22,251,622
Ensembl chr 5:22,228,042...22,244,528 		JBrowse link
autosomal recessive congenital ichthyosis 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SULT2B1 sulfotransferase family 2B member 1 ISO ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 14 OMIM
ClinVar		 PMID:17496163 PMID:25741868 PMID:28492532 PMID:28575648 NCBI chr 6:53,928,248...53,963,443
Ensembl chr 6:53,928,248...53,963,443 		JBrowse link
autosomal recessive congenital ichthyosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALOX12B arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: ALOX12B-related condition | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 OMIM
ClinVar		 PMID:9536098 PMID:11773004 PMID:16116617 PMID:16199547 PMID:17139268 More... NCBI chr12:53,292,530...53,302,850
Ensembl chr12:53,292,526...53,302,993 		JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 ClinVar PMID:16116617 PMID:19131948 PMID:25741868 PMID:26370990 PMID:26762237 More... NCBI chr12:53,309,845...53,331,780
Ensembl chr12:53,309,848...53,331,523 		JBrowse link
G SULT2B1 sulfotransferase family 2B member 1 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 ClinVar PMID:17496163 PMID:28575648 NCBI chr 6:53,928,248...53,963,443
Ensembl chr 6:53,928,248...53,963,443 		JBrowse link
autosomal recessive congenital ichthyosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALOXE3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 OMIM
ClinVar		 PMID:9536098 PMID:11398099 PMID:11773004 PMID:16116617 PMID:17576681 More... NCBI chr12:53,309,845...53,331,780
Ensembl chr12:53,309,848...53,331,523 		JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 ClinVar PMID:24824130 NCBI chr12:53,200,570...53,250,566
Ensembl chr12:53,235,801...53,249,467 		JBrowse link
autosomal recessive congenital ichthyosis 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA12 ATP binding cassette subfamily A member 12 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4A OMIM
ClinVar		 PMID:8845852 PMID:10094194 PMID:12915478 PMID:15756637 PMID:16199547 More... NCBI chr15:117,244,704...117,451,009
Ensembl chr15:117,244,719...117,450,863 		JBrowse link
autosomal recessive congenital ichthyosis 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA12 ATP binding cassette subfamily A member 12 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4B OMIM
ClinVar		 PMID:10094194 PMID:12915478 PMID:15756637 PMID:16902423 PMID:17684380 More... NCBI chr15:117,244,704...117,451,009
Ensembl chr15:117,244,719...117,450,863 		JBrowse link
G CST6 cystatin E/M ISO OMIM:242500 MouseDO NCBI chr 2:6,323,737...6,325,519
Ensembl chr 2:6,323,740...6,325,415 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A ISO OMIM:242500 MouseDO NCBI chr  X:11,871,746...11,886,519
Ensembl chr  X:11,871,750...11,886,438 		JBrowse link
G PRSS8 serine protease 8 ISO OMIM:242500 MouseDO NCBI chr 3:17,357,793...17,362,223
Ensembl chr 3:17,357,802...17,362,220 		JBrowse link
autosomal recessive congenital ichthyosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 5 | ClinVar Annotator: match by term: Ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive OMIM
ClinVar		 PMID:16199547 PMID:16436457 PMID:18034255 PMID:22992804 PMID:23621129 More... NCBI chr 2:62,078,403...62,110,891
Ensembl chr 2:62,081,269...62,110,899 		JBrowse link
autosomal recessive congenital ichthyosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NIPAL4 NIPA like domain containing 4 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 6 OMIM
ClinVar		 PMID:15317751 PMID:17557927 PMID:19434086 PMID:20016120 PMID:20301593 More... NCBI chr16:65,814,588...65,831,788
Ensembl chr16:65,815,295...65,829,296 		JBrowse link
autosomal recessive congenital ichthyosis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100156277 lipase member N ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 8 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr14:100,678,863...100,710,229
Ensembl chr14:100,691,955...100,710,316 		JBrowse link
autosomal recessive congenital ichthyosis 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CERS3 ceramide synthase 3 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 9 OMIM
ClinVar		 PMID:23549421 PMID:23754960 PMID:25741868 PMID:28492532 NCBI chr 1:139,027,604...139,154,830
Ensembl chr 1:139,030,642...139,136,874 		JBrowse link
Autosomal Recessive Cutis Laxa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 ISO ClinVar Annotator: match by term: Cutis laxa, recessive ClinVar NCBI chr14:107,174,062...107,221,373
Ensembl chr14:107,170,689...107,221,215 		JBrowse link
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Cutis laxa, recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr14:29,250,400...29,297,697
Ensembl chr14:29,250,405...29,297,683 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Cutis laxa, recessive ClinVar NCBI chr 2:6,455,155...6,463,493
Ensembl chr 2:6,450,332...6,463,486 		JBrowse link
G FBLN5 fibulin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12189163 NCBI chr 7:113,423,629...113,526,412
Ensembl chr 7:113,423,632...113,512,198 		JBrowse link
G MUS81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Cutis laxa, recessive ClinVar NCBI chr 2:6,462,825...6,470,780
Ensembl chr 2:6,463,413...6,469,112 		JBrowse link
G PYCR1 pyrroline-5-carboxylate reductase 1 ISO ClinVar Annotator: match by term: Cutis laxa, recessive ClinVar NCBI chr12:1,060,028...1,064,808
Ensembl chr12:1,060,570...1,064,805 		JBrowse link
G TCTN2 tectonic family member 2 ISO ClinVar Annotator: match by term: Cutis laxa, recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr14:29,301,848...29,333,063
Ensembl chr14:29,297,881...29,332,720 		JBrowse link
autosomal recessive cutis laxa type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive cutis laxa type IA | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1A ClinVar PMID:8985490 PMID:15776121 PMID:16685658 PMID:17937443 PMID:19664000 More... NCBI chr 2:6,455,155...6,463,493
Ensembl chr 2:6,450,332...6,463,486 		JBrowse link
G FBLN5 fibulin 5 ISO ClinVar Annotator: match by term: Autosomal recessive cutis laxa type IA | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1A OMIM
ClinVar		 PMID:3232707 PMID:12189163 PMID:16374472 PMID:16652333 PMID:16691202 More... NCBI chr 7:113,423,629...113,526,412
Ensembl chr 7:113,423,632...113,512,198 		JBrowse link
G MUS81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1A ClinVar PMID:15776121 PMID:20389311 PMID:21563328 PMID:28492532 NCBI chr 2:6,462,825...6,470,780
Ensembl chr 2:6,463,413...6,469,112 		JBrowse link
autosomal recessive cutis laxa type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4GAT1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 2:6,043,594...6,045,220
Ensembl chr 2:6,043,508...6,045,817 		JBrowse link
G BANF1 BAF nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 2:6,333,451...6,335,326
Ensembl chr 2:6,333,453...6,334,839 		JBrowse link
G BRMS1 BRMS1 transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 2:6,046,077...6,053,672
Ensembl chr 2:6,046,098...6,053,667 		JBrowse link
G C2H11orf68 chromosome 2 C11orf68 homolog ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 2:6,411,946...6,414,286
Ensembl chr 2:6,411,833...6,414,280 		JBrowse link
G CATSPER1 cation channel sperm associated 1 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 2:6,312,906...6,321,690
Ensembl chr 2:6,312,906...6,321,690 		JBrowse link
G CCDC85B coiled-coil domain containing 85B ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 2:6,436,787...6,437,828
Ensembl chr 2:6,436,794...6,437,808 		JBrowse link
G CD248 CD248 molecule ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 2:6,070,885...6,073,518
Ensembl chr 2:6,070,910...6,073,509 		JBrowse link
G CNIH2 cornichon family AMPA receptor auxiliary protein 2 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 2:6,102,347...6,109,424 JBrowse link
G CST6 cystatin E/M ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 2:6,323,737...6,325,519
Ensembl chr 2:6,323,740...6,325,415 		JBrowse link
G CTSW cathepsin W ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 2:6,446,105...6,450,357
Ensembl chr 2:6,446,105...6,450,360 		JBrowse link
G DRAP1 DR1 associated protein 1 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 2:6,409,623...6,411,935
Ensembl chr 2:6,409,655...6,412,395 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B OMIM
ClinVar		 PMID:2038931 PMID:8985490 PMID:9536098 PMID:15776121 PMID:16199547 More... NCBI chr 2:6,455,155...6,463,493
Ensembl chr 2:6,450,332...6,463,486 		JBrowse link
G EIF1AD eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 2:6,334,882...6,340,125
Ensembl chr 2:6,334,197...6,340,112 		JBrowse link
G FIBP FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 2:6,440,483...6,445,927
Ensembl chr 2:6,440,390...6,445,927 		JBrowse link
G FOSL1 FOS like 1, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 2:6,430,158...6,436,173
Ensembl chr 2:6,430,153...6,436,173 		JBrowse link
G GAL3ST3 galactose-3-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 2:6,297,797...6,306,200
Ensembl chr 2:6,297,855...6,306,198 		JBrowse link
G GBE1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:25741868 NCBI chr13:173,634,401...173,909,646
Ensembl chr13:173,634,454...173,914,756 		JBrowse link
G KLC2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 2:6,117,236...6,127,048
Ensembl chr 2:6,116,429...6,126,951 		JBrowse link
G KLC2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 2:6,110,438...6,116,443
Ensembl chr 2:6,102,354...6,116,221 		JBrowse link
G MUS81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:15776121 PMID:20389311 PMID:21563328 PMID:25741868 PMID:28492532 NCBI chr 2:6,462,825...6,470,780
Ensembl chr 2:6,463,413...6,469,112 		JBrowse link
G PACS1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 2:6,138,345...6,277,309
Ensembl chr 2:6,138,351...6,174,632 		JBrowse link
G RIN1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 2:6,053,875...6,061,051 JBrowse link
G SART1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 2:6,355,690...6,373,342
Ensembl chr 2:6,354,908...6,373,272 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 2:6,279,039...6,295,550
Ensembl chr 2:6,279,049...6,294,639 		JBrowse link
G TMEM151A transmembrane protein 151A ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 2:6,090,535...6,095,499
Ensembl chr 2:6,090,543...6,095,352 		JBrowse link
G TSGA10IP testis specific 10 interacting protein ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 2:6,374,617...6,391,457
Ensembl chr 2:6,374,617...6,387,718 		JBrowse link
G YIF1A Yip1 interacting factor homolog A, membrane trafficking protein ISO ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B ClinVar PMID:28492532 NCBI chr 2:6,097,749...6,101,965
Ensembl chr 2:6,095,877...6,102,037 		JBrowse link
autosomal recessive cutis laxa type IC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LTBP4 latent transforming growth factor beta binding protein 4 ISO ClinVar Annotator: match by term: Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type IC OMIM
ClinVar		 PMID:16199547 PMID:19836010 PMID:22829427 PMID:24033266 PMID:25741868 More... NCBI chr 6:48,831,018...48,861,503
Ensembl chr 6:48,831,014...48,861,507 		JBrowse link
autosomal recessive cutis laxa type IIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Cutis laxa with osteodystrophy OMIM
ClinVar		 PMID:9536098 PMID:15657616 PMID:16199547 PMID:17576681 PMID:18157129 More... NCBI chr14:29,250,400...29,297,697
Ensembl chr14:29,250,405...29,297,683 		JBrowse link
G TCTN2 tectonic family member 2 ISO ClinVar Annotator: match by term: Cutis laxa with osteodystrophy ClinVar PMID:25741868 NCBI chr14:29,301,848...29,333,063
Ensembl chr14:29,297,881...29,332,720 		JBrowse link
autosomal recessive cutis laxa type IIB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PYCR1 pyrroline-5-carboxylate reductase 1 ISO ClinVar Annotator: match by term: Autosomal recessive cutis laxa type 2B | ClinVar Annotator: match by term: CUTIS LAXA WITH PROGEROID FEATURES OMIM
ClinVar		 PMID:11424136 PMID:16045708 PMID:16233902 PMID:18304158 PMID:18348262 More... NCBI chr12:1,060,028...1,064,808
Ensembl chr12:1,060,570...1,064,805 		JBrowse link
autosomal recessive cutis laxa type IIC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1E1 ATPase H+ transporting V1 subunit E1 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC OMIM
ClinVar		 PMID:25741916 PMID:27023906 PMID:28065471 PMID:28492532 NCBI chr 5:69,752,644...69,772,038
Ensembl chr 5:69,747,700...69,771,990 		JBrowse link
autosomal recessive cutis laxa type IID term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1A ATPase H+ transporting V1 subunit A ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID OMIM
ClinVar		 PMID:24459010 PMID:25741868 PMID:28065471 PMID:28492532 NCBI chr13:146,128,664...146,165,269
Ensembl chr13:146,121,759...146,192,442 		JBrowse link
Autosomal Recessive Cutis Laxa Type IIE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LTBP1 latent transforming growth factor beta binding protein 1 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE OMIM
ClinVar		 PMID:25741868 PMID:33991472 NCBI chr 3:106,300,748...106,724,538
Ensembl chr 3:106,300,750...106,724,737 		JBrowse link
autosomal recessive cutis laxa type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 ISO ClinVar Annotator: match by term: Progeroid syndrome of De Barsy | ClinVar Annotator: match by term: de Barsy syndrome ClinVar PMID:8779323 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21739576 More... NCBI chr14:107,174,062...107,221,373
Ensembl chr14:107,170,689...107,221,215 		JBrowse link
autosomal recessive cutis laxa type IIIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 ISO ClinVar Annotator: match by term: Cutis laxa-corneal clouding-oligophrenia syndrome | ClinVar Annotator: match by term: DE BARSY SYNDROME A OMIM
ClinVar		 PMID:8779323 PMID:9536098 PMID:9643297 PMID:11092761 PMID:16199547 More... NCBI chr14:107,174,062...107,221,373
Ensembl chr14:107,170,689...107,221,215 		JBrowse link
autosomal recessive cutis laxa type IIIB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PYCR1 pyrroline-5-carboxylate reductase 1 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB | ClinVar Annotator: match by term: DE BARSY SYNDROME B | ClinVar Annotator: match by term: PYCR1-related condition OMIM
ClinVar		 PMID:4076251 PMID:9536098 PMID:16233902 PMID:17576681 PMID:18348262 More... NCBI chr12:1,060,028...1,064,808
Ensembl chr12:1,060,570...1,064,805 		JBrowse link
Autosomal Recessive Dyskeratosis Congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTC1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar PMID:25741868 NCBI chr12:53,427,807...53,454,149
Ensembl chr12:53,428,185...53,454,096 		JBrowse link
G DCLRE1B DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Autosomal recessive dyskeratosis congenita ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:106,646,591...106,656,490
Ensembl chr 4:106,646,011...106,656,452 		JBrowse link
G NHP2 NHP2 ribonucleoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:80,223,439...80,227,614 JBrowse link
G NOP10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar PMID:25741868 NCBI chr 7:80,161,024...80,162,299
Ensembl chr 7:80,161,096...80,164,328 		JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar PMID:25741868 NCBI chr12:53,458,401...53,477,254 JBrowse link
G SLC12A6 solute carrier family 12 member 6 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar NCBI chr 7:80,164,788...80,266,335
Ensembl chr 7:80,164,911...80,268,323 		JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
G WRAP53 WD repeat containing antisense to TP53 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr12:52,954,674...52,968,371
Ensembl chr12:52,954,669...52,968,364 		JBrowse link
autosomal recessive dyskeratosis congenita 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NHP2 NHP2 ribonucleoprotein ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 ClinVar PMID:18523010 PMID:20301779 PMID:25741868 PMID:28492532 PMID:31681265 NCBI chr 2:80,223,439...80,227,614 JBrowse link
G NOP10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 OMIM
ClinVar		 PMID:17507419 PMID:20301779 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:80,161,024...80,162,299
Ensembl chr 7:80,161,096...80,164,328 		JBrowse link
G RMND5B required for meiotic nuclear division 5 homolog B ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 ClinVar PMID:18523010 PMID:20301779 PMID:25741868 PMID:28492532 NCBI chr 2:80,226,047...80,247,358
Ensembl chr 2:80,225,496...80,246,945 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 ClinVar NCBI chr 7:80,164,788...80,266,335
Ensembl chr 7:80,164,911...80,268,323 		JBrowse link
G TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 ClinVar PMID:17785587 PMID:20301779 PMID:25741868 PMID:26887940 PMID:28192371 More... NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421 		JBrowse link
autosomal recessive dyskeratosis congenita 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NHP2 NHP2 ribonucleoprotein ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2 OMIM
ClinVar		 PMID:18523010 PMID:20301779 PMID:25741868 PMID:28492532 NCBI chr 2:80,223,439...80,227,614 JBrowse link
G RMND5B required for meiotic nuclear division 5 homolog B ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2 ClinVar PMID:18523010 PMID:20301779 PMID:25741868 PMID:28492532 NCBI chr 2:80,226,047...80,247,358
Ensembl chr 2:80,225,496...80,246,945 		JBrowse link
autosomal recessive dyskeratosis congenita 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 3 | ClinVar Annotator: match by term: WRAP53-related condition ClinVar PMID:17683073 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
G WRAP53 WD repeat containing antisense to TP53 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 3 | ClinVar Annotator: match by term: WRAP53-related condition OMIM
ClinVar		 PMID:17683073 PMID:20301779 PMID:21205863 PMID:24033266 PMID:25741868 More... NCBI chr12:52,954,674...52,968,371
Ensembl chr12:52,954,669...52,968,364 		JBrowse link
autosomal recessive dyskeratosis congenita 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Autosomal recessive dyskeratosis congenita 4 ClinVar PMID:15814878 PMID:17785587 PMID:18042801 PMID:18635888 PMID:18753630 More... NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421 		JBrowse link
autosomal recessive dyskeratosis congenita 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARFRP1 ADP ribosylation factor related protein 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar NCBI chr17:62,636,584...62,642,485
Ensembl chr17:62,636,588...62,642,490 		JBrowse link
G BARD1 BRCA1 associated RING domain 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr15:117,049,483...117,135,889
Ensembl chr15:117,047,845...117,175,851 		JBrowse link
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:23453664 PMID:23959892 PMID:25607374 PMID:28492532 NCBI chr17:62,424,672...62,436,646
Ensembl chr17:62,423,878...62,435,728 		JBrowse link
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr17:62,517,811...62,526,379
Ensembl chr17:62,517,503...62,526,190 		JBrowse link
G FNDC11 fibronectin type III domain containing 11 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr17:62,558,294...62,559,961
Ensembl chr17:62,558,684...62,559,688 		JBrowse link
G GMEB2 glucocorticoid modulatory element binding protein 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr17:62,568,546...62,595,880
Ensembl chr17:62,568,549...62,584,820 		JBrowse link
G HELZ2 helicase with zinc finger 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr 6:59,916,378...59,932,537
Ensembl chr 6:59,919,847...59,932,546 		JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr17:62,459,277...62,506,403
Ensembl chr17:62,459,281...62,506,424 		JBrowse link
G PPDPF pancreatic progenitor cell differentiation and proliferation factor ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr17:62,537,510...62,539,012 JBrowse link
G PTK6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr17:62,538,853...62,547,866
Ensembl chr17:62,538,855...62,546,870 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 OMIM
ClinVar		 PMID:9536098 PMID:14534157 PMID:16199547 PMID:17576681 PMID:19461895 More... NCBI chr17:62,611,844...62,636,628
Ensembl chr17:62,611,909...62,634,690 		JBrowse link
G SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr17:62,549,025...62,555,904
Ensembl chr17:62,548,182...62,556,975 		JBrowse link
G STMN3 stathmin 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr17:62,600,450...62,609,851
Ensembl chr17:62,600,455...62,609,018 		JBrowse link
G TNFRSF6B TNF receptor superfamily member 6b ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:23453664 PMID:23729807 PMID:23959892 PMID:24009516 PMID:24033266 More... NCBI chr17:62,635,024...62,637,520 JBrowse link
autosomal recessive dyskeratosis congenita 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PARN poly(A)-specific ribonuclease ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 6 OMIM
ClinVar		 PMID:9536098 PMID:9736620 PMID:16199547 PMID:17576681 PMID:22834816 More... NCBI chr 3:28,616,808...28,802,506
Ensembl chr 3:28,612,269...28,802,504 		JBrowse link
Autosomal Recessive Dyskeratosis Congenita 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACD ACD shelterin complex subunit and telomerase recruitment factor ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 7 ClinVar PMID:25205116 PMID:25233904 PMID:25741868 PMID:27807141 PMID:28492532 More... NCBI chr 6:28,277,649...28,280,409
Ensembl chr 6:28,277,614...28,280,405 		JBrowse link
Autosomal Recessive Dyskeratosis Congenita 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCLRE1B DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 8 OMIM
ClinVar		 PMID:28492532 PMID:35007328 NCBI chr 4:106,646,591...106,656,490
Ensembl chr 4:106,646,011...106,656,452 		JBrowse link
Bart-Pumphrey syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Bart-Pumphrey syndrome OMIM
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846 		JBrowse link
BASAN syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 ISO ClinVar Annotator: match by term: Basan syndrome OMIM
ClinVar		 PMID:20619487 PMID:21820097 PMID:24664640 PMID:25741868 PMID:26932190 NCBI chr 8:125,410,221...125,488,471
Ensembl chr 8:125,409,507...125,488,153 		JBrowse link
Basaran Yilmaz Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156 		JBrowse link
Behcet's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 ISO DNA:missense mutations, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human) RGD PMID:22705826 RGD:8657073 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 no_association
susceptibility		 ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15045629 PMID:15961928 RGD:7829810 RGD:8142349 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703 		JBrowse link
G ADA2 adenosine deaminase 2 ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28814775 PMID:29681619 NCBI chr 5:69,526,413...69,554,640
Ensembl chr 5:69,526,435...69,554,661 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21044750 RGD:8694430 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646 		JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25045206 NCBI chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943 		JBrowse link
G APOA1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713 		JBrowse link
G APOB apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200 		JBrowse link
G CAT catalase ISO CTD Direct Evidence: marker/mechanism
protein:decreased activity:erythrocyte:		 CTD
RGD		 PMID:12074830 PMID:17206395 RGD:9068907 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452 		JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 susceptibility ISO protein:increased expression:plasma (human)
DNA:snp:promoter:g.-2518A>G (human)		 RGD PMID:12712358 PMID:19782713 RGD:8548882 RGD:8549488 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026 		JBrowse link
G CCR1 C-C motif chemokine receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr13:29,227,218...29,233,862
Ensembl chr13:29,227,222...29,233,960 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 no_association ISO DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
protein:increased expression:blood, T cell (human)		 RGD PMID:15009175 PMID:15501397 PMID:17067435 RGD:4892106 RGD:8551814 RGD:8551827 NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895 		JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:plasma RGD PMID:22116092 RGD:8547820 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709 		JBrowse link
G CDK6 cyclin dependent kinase 6 ISO ClinVar Annotator: match by term: Behcet disease ClinVar NCBI chr 9:72,510,858...72,765,631
Ensembl chr 9:72,518,101...72,764,129 		JBrowse link
G CFB complement factor B ISO RGD PMID:6900632 RGD:7411737 NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,033,740...24,041,179 		JBrowse link
G CPB2 carboxypeptidase B2 ISO RGD PMID:15668188 RGD:1598474 NCBI chr11:21,234,447...21,298,250
Ensembl chr11:21,234,447...21,298,241 		JBrowse link
G CRP C-reactive protein, pentraxin-related ISO protein:increased expression:plasma,erythrocyte: RGD PMID:12180795 RGD:9491757 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO DNA:SNPs: :1661A>G,49C>A(human) RGD PMID:19563524 RGD:7411682 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO DNA:SNPs: :4889A>G, 4887C>A (human) RGD PMID:15088300 RGD:8552789 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase ISO associated with uveitis; DNA:SNP:CDS:rs12785878 (human) RGD PMID:24184224 RGD:401901083 NCBI chr 2:2,377,352...2,391,846
Ensembl chr 2:2,377,416...2,391,447 		JBrowse link
G EDN1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:9132327 RGD:8661801 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348 		JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr 2:103,378,428...103,415,066
Ensembl chr 2:103,378,429...103,408,759 		JBrowse link
G F5 coagulation factor V no_association ISO DNA:mutation: :1691G>A (human) RGD PMID:15077257 RGD:7394769 NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,274...81,485,066 		JBrowse link
G FAS Fas cell surface death receptor severity ISO protein:increased expression:serum (human) RGD PMID:9836498 RGD:8662438 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa susceptibility ISO DNA:SNP:exon:p.F158V (rs396991)(human) RGD PMID:19026120 RGD:5508432 NCBI chr 4:88,948,357...88,956,513 JBrowse link
G HMOX1 heme oxygenase 1 ISO mRNA:decreased expression:mononulcear cell: RGD PMID:18234118 RGD:7777175
G ICAM1 intercellular adhesion molecule 1 no_association
susceptibility		 ISO DNA:SNP:exon:p.R241G (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :p.K469E (human)		 RGD
CTD		 PMID:8712863 PMID:10792421 PMID:11409120 PMID:12074830 PMID:12808331 RGD:8158115 RGD:8158123 RGD:8547575 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205 		JBrowse link
G IFNG interferon gamma ISO associated with Uveitis; protein:increased expression:aqueous humor:
protein:increased expression:serum:		 RGD PMID:2154346 PMID:21334264 RGD:8142356 RGD:8142377 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO DNA:missense mutation:cds:1217A>T(D406V)(human) RGD PMID:20412081 RGD:12791269 NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		JBrowse link
G IL10 interleukin 10 susceptibility
onset
disease_progression
treatment		 ISO DNA:SNP:promoter:-592A>C (rs1800872) (human)
CTD Direct Evidence: marker/mechanism
DNA, protein:hypermethylation, decreased expression:promoter, serum		 RGD
CTD		 PMID:15980236 PMID:20622878 PMID:20622879 PMID:21506890 PMID:26654556 More... RGD:14975131 RGD:14975149 RGD:14975256 RGD:1598628 RGD:7364843 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378 		JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:plasma (human) RGD PMID:21455110 RGD:8698672 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153 		JBrowse link
G IL18 interleukin 18 no_association
susceptibility		 ISO DNA:SNP, haplotype:promoter:-607C>A (rs1946518) (human)
DNA:SNPs:promoter:-1297T>C (rs360719), -137G>C (rs187238) (human)
DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)		 RGD PMID:14727452 PMID:15234532 PMID:16273766 PMID:17055358 PMID:21532063 RGD:4889844 RGD:8655897 RGD:8655910 RGD:8655926 RGD:8655927 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219 		JBrowse link
G IL18R1 interleukin 18 receptor 1 ISO ClinVar Annotator: match by term: Behcet disease ClinVar PMID:25741868 NCBI chr 3:51,803,383...51,844,758
Ensembl chr 3:51,803,175...51,844,684 		JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213
G IL2 interleukin 2 ISO DNA:polymorphism:promoter (human) RGD PMID:21640045 RGD:5147902 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609 		JBrowse link
G IL21R interleukin 21 receptor ISO RGD PMID:21724243 RGD:6892926 NCBI chr 3:19,447,488...19,489,201
Ensembl chr 3:19,443,359...19,489,152 		JBrowse link
G IL23R interleukin 23 receptor susceptibility ISO DNA:SNP: :rs1884444(human)
DNA:SNPs,haplotype::rs17375018, rs11209032(human);		 RGD PMID:20375120 PMID:22483685 RGD:8549550 RGD:8549565 NCBI chr 6:145,337,765...145,401,909
Ensembl chr 6:145,335,741...145,401,510 		JBrowse link
G IL4 interleukin 4 ISO DNA:polymorphisms:promoter:-33T>C (human) RGD PMID:21640045 RGD:5147902 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365 		JBrowse link
G IL6 interleukin 6 ISO protein:increased secretion:monocyte: RGD PMID:8164212 RGD:7829752 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G IRF8 interferon regulatory factor 8 susceptibility ISO DNA:Hypermethylation
protein:decreased expression:Peripheral blood mononuclear cells, monocytes (human)
DNA:SNPs,haplotypes: (rs17445836, rs11642873) (human)		 RGD PMID:26794091 PMID:28592884 PMID:28881647 RGD:329902077 RGD:329902079 RGD:329955373 NCBI chr 6:3,041,617...3,060,685
Ensembl chr 6:3,041,645...3,097,406 		JBrowse link
G ITGA2 integrin subunit alpha 2 susceptibility ISO RGD PMID:12412731 RGD:1582300 NCBI chr16:32,336,240...32,440,311
Ensembl chr16:32,336,292...32,437,103 		JBrowse link
G ITGAL integrin subunit alpha L ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr 3:17,817,785...17,858,057
Ensembl chr 3:17,817,011...17,858,012 		JBrowse link
G ITGAM integrin subunit alpha M ISO protein:increased expression:neutrophil (human) RGD PMID:21719422 RGD:329901843 NCBI chr 3:17,216,719...17,272,134
Ensembl chr 3:17,204,610...17,273,613 		JBrowse link
G ITGB2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr13:207,514,281...207,544,108
Ensembl chr13:207,512,950...207,544,107 		JBrowse link
G LOC110258578 interleukin-1 beta-like ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213
G MBL2 mannose binding lectin 2 susceptibility
severity		 ISO DNA:polymorphisms:5' utr, exon:multiple (human)
protein:decreased secretion:serum (human)		 RGD PMID:15693089 PMID:15730518 RGD:1582154 RGD:1582155 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Behcet disease ClinVar PMID:25741868 PMID:28492532 PMID:28814775 PMID:31411330 NCBI chr 3:38,934,573...38,948,609 JBrowse link
G MIR155 microRNA mir-155 ISO miRNA:increased expression:peripheral blood mononuclear cell RGD PMID:27156371 PMID:30366049 RGD:21409751 RGD:25671481 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:17949555 RGD:8657044 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:plasma, platelets RGD PMID:17949555 PMID:22116092 RGD:8547820 RGD:8657044 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 susceptibility
no_association		 ISO DNA:snp, insertion:exons:p.R702W, p.L1007insC (human)
ClinVar Annotator: match by term: Behcet disease
DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human)		 RGD
ClinVar		 PMID:15515785 PMID:19748964 PMID:28492532 RGD:13204711 RGD:8158059 NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534 		JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility
no_association		 ISO DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human)
DNA:snp:cds:p.E298D
DNA:duplication:intron:g.IVS4?-?+27 (human)
DNA:snp:cds:p.E298D (human)		 RGD PMID:11908569 PMID:15705632 PMID:16463158 PMID:21957880 RGD:7771576 RGD:7771577 RGD:7775048 RGD:7775050 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943 		JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:15377545 RGD:8547573 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 ISO ClinVar Annotator: match by term: Behcet disease | ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:57,100,212...57,145,278
Ensembl chr 7:57,102,757...57,146,751 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 no_association ISO DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human) RGD PMID:17660222 PMID:22396730 RGD:6484733 RGD:7829745 NCBI chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099 		JBrowse link
G SERPINE1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum (human)		 CTD
RGD		 PMID:12074830 PMID:18341631 RGD:8547693 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547 		JBrowse link
G SLA-DMA SLA-DM alpha chain no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr 7:25,133,494...25,137,928
Ensembl chr 7:25,133,497...25,137,966 		JBrowse link
G SLA-DMB MHC class II, DM beta no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr 7:25,119,278...25,125,089
Ensembl chr 7:25,119,139...25,128,236 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO DNA:polymorphism:intron (human) RGD PMID:18998137 RGD:5684936 NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396 		JBrowse link
G SOD1 superoxide dismutase 1 ISO protein:increased activity:serum (human) RGD PMID:12458889 RGD:1580846 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 no_association ISO DNA:SNP: :rs2293152 (human)
DNA:SNP: :rs744166, rs2293152 (human)		 RGD PMID:22205606 PMID:23127549 RGD:6483021 RGD:8694309 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO DNA:SNP: :rs7574865 (human)
DNA:SNPs: :rs897200, rs7572482, rs7574070 (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:20438790 PMID:23001997 PMID:23291587 RGD:8661713 RGD:8661718 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO DNA:polymorphism:promoter:exon (human) RGD PMID:21640045 RGD:5147902 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046 		JBrowse link
G TLR2 toll like receptor 2 no_association
susceptibility		 ISO protein,mRNA:increased expression:peripheral blood mononuclear cell
DNA:polymorphism: :12408G>A(human)
mRNA:increased expression:intestine:
DNA:SNPs: : rs2289318,rs3804099(human)		 RGD PMID:18336589 PMID:19796535 PMID:23908180 PMID:24255044 RGD:8552883 RGD:8552885 RGD:8552888 RGD:8552915 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330 		JBrowse link
G TLR3 toll like receptor 3 ISO protein,mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:23908180 RGD:8552883 NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,969,006...46,979,291 		JBrowse link
G TLR4 toll like receptor 4 susceptibility
no_association		 ISO mRNA:increased expression:mononulcear cell:
DNA:SNP:3'UTR: rs7037117(human)
mRNA:increased expression:intestine:
DNA:polymorphism: :1896A>G,11196C>T(human)		 RGD PMID:18234118 PMID:18336589 PMID:18408113 PMID:19796535 RGD:7777175 RGD:7777176 RGD:8552888 RGD:8552915 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970 		JBrowse link
G TNF tumor necrosis factor no_association ISO DNA:SNP:promoter
DNA:SNP:promoter:-308G>A (human)
associated with Uveitis;protein:increased expression:aqueous humor:
protein:increased expression:serum
DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human)		 RGD PMID:12632436 PMID:12770792 PMID:14600787 PMID:15875188 PMID:20601837 More... RGD:12904036 RGD:12904040 RGD:12904048 RGD:7394759 RGD:7401213 RGD:8142356 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Behcet disease ClinVar PMID:25741868 PMID:27264265 PMID:28492532 PMID:28814775 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909 		JBrowse link
G VDR vitamin D receptor no_association ISO DNA:SNP: :rs1544410 (human)
DNA:SNP:exon:rs2228570 (human)		 RGD PMID:21820934 RGD:8158077 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:serum RGD PMID:15257411 RGD:8655578 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		JBrowse link
G VIM vimentin ISO RGD PMID:3780056 RGD:6480476 NCBI chr10:43,516,441...43,526,172
Ensembl chr10:43,517,307...43,526,170 		JBrowse link
G VWF von Willebrand factor ISO RGD PMID:15849757 RGD:1580642 NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,519,186...65,002,452 		JBrowse link
Bloch-Sulzberger syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Incontinentia pigmenti syndrome OMIM
ClinVar		 PMID:11590134 PMID:18222329 PMID:18350553 PMID:19656162 PMID:24339369 More... NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO OMIM:308300 MouseDO NCBI chr  X:123,906,130...123,921,935
Ensembl chr  X:123,906,199...123,929,117 		JBrowse link
Bothnian type palmoplantar keratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP5 aquaporin 5 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, Bothnian type OMIM
ClinVar		 PMID:7531539 PMID:23830519 PMID:25741868 PMID:27255181 PMID:28492532 More... NCBI chr 5:15,876,527...15,879,608
Ensembl chr 5:15,876,407...15,880,067 		JBrowse link
Brittle Cornea Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Brittle cornea syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29228253 NCBI chr 6:1,161,514...1,208,406
Ensembl chr 6:1,162,822...1,174,257 		JBrowse link
brittle cornea syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRDM5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:103,188,312...103,383,955
Ensembl chr 8:103,189,561...103,382,094 		JBrowse link
G ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 1 | ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility | ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE | ClinVar Annotator: match by term: EDS6B | ClinVar Annotator: match by term: ZNF469-related condition OMIM
ClinVar		 PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 More... NCBI chr 6:1,161,514...1,208,406
Ensembl chr 6:1,162,822...1,174,257 		JBrowse link
brittle cornea syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRDM5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 2 OMIM
ClinVar		 PMID:8458232 PMID:9536098 PMID:17576681 PMID:21664999 PMID:22122778 More... NCBI chr 8:103,188,312...103,383,955
Ensembl chr 8:103,189,561...103,382,094 		JBrowse link
Brown Oculocutaneous Albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OCA2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Brown oculocutaneous albinism ClinVar PMID:7920637 PMID:11179026 PMID:17767372 NCBI chr15:56,657,648...56,869,920
Ensembl chr15:56,657,616...56,869,918 		JBrowse link
bullous congenital ichthyosiform erythroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT1 keratin 1 ISO ClinVar Annotator: match by term: Congenital bullous ichthyosiform erythroderma ClinVar PMID:12406348 PMID:25741868 PMID:28492532 PMID:30288772 NCBI chr 5:18,012,922...18,018,582
Ensembl chr 5:18,012,925...18,018,582 		JBrowse link
G KRT10 keratin 10 ISO ClinVar Annotator: match by term: Congenital bullous ichthyosiform erythroderma ClinVar PMID:1381287 PMID:7508181 PMID:7509230 PMID:7512983 PMID:21271994 More... NCBI chr12:21,641,263...21,645,642
Ensembl chr12:21,641,271...21,646,377 		JBrowse link
G KRT2 keratin 2 ISO ClinVar Annotator: match by term: Ichthyosis bullosa of Siemens | ClinVar Annotator: match by term: KRT2-related condition OMIM
ClinVar		 PMID:1380918 PMID:2004005 PMID:7521371 PMID:7524919 PMID:8077693 More... NCBI chr 5:17,984,316...17,992,092
Ensembl chr 5:17,984,316...17,992,092 		JBrowse link
Burnett Schwartz Berberian Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRP1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Keratosis pilaris ClinVar PMID:25741868 PMID:26142438 PMID:28381441 NCBI chr 5:22,435,636...22,519,276 JBrowse link
Buschke-Ollendorff syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELN elastin ISO RGD PMID:1629625 RGD:9585749 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897 		JBrowse link
G LEMD3 LEM domain containing 3 no_association ISO ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata | ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata, isolated | ClinVar Annotator: match by term: LEMD3-related condition | ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis | ClinVar Annotator: match by term: OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS OMIM
ClinVar
RGD		 PMID:9295073 PMID:12749062 PMID:15489854 PMID:16470551 PMID:17087626 More... RGD:11553842 NCBI chr 5:29,596,334...29,672,704
Ensembl chr 5:29,596,334...29,673,875 		JBrowse link
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SASH1 SAM and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma OMIM
ClinVar		 PMID:25315659 PMID:25741868 NCBI chr 1:17,306,364...17,663,117
Ensembl chr 1:17,306,373...17,511,672 		JBrowse link
cardiofaciocutaneous syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar PMID:2500657 PMID:4386970 PMID:5771505 PMID:8042262 PMID:11313766 More... NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17703371 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar PMID:8234268 PMID:16474404 PMID:16474405 PMID:16987887 PMID:17056636 More... NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar PMID:1804226 PMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 More... NCBI chr 1:164,381,892...164,469,313
Ensembl chr 1:164,381,845...164,471,226 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar PMID:16439621 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18413255 More... NCBI chr 2:74,626,739...74,651,352
Ensembl chr 2:74,626,783...74,651,348 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: CFC syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003 		JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar PMID:28492532 NCBI chr 4:94,117,721...94,127,882
Ensembl chr 4:94,117,882...94,127,384 		JBrowse link
G SNAPC5 small nuclear RNA activating complex polypeptide 5 ISO ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome ClinVar NCBI chr 1:164,459,111...164,475,053
Ensembl chr 1:164,467,599...164,475,011 		JBrowse link
cardiofaciocutaneous syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 OMIM
ClinVar		 PMID:2102266 PMID:2500657 PMID:2851224 PMID:3265306 PMID:4386970 More... NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 ClinVar PMID:8234268 PMID:17056636 PMID:18958496 PMID:21784453 PMID:24033266 More... NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 ClinVar PMID:17366577 PMID:24719372 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 2:74,626,739...74,651,352
Ensembl chr 2:74,626,783...74,651,348 		JBrowse link
cardiofaciocutaneous syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 2 OMIM
ClinVar		 PMID:8246952 PMID:12110640 PMID:14982869 PMID:16474404 PMID:16474405 More... NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
cardiofaciocutaneous syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 3 | ClinVar Annotator: match by term: MAP2K1-Related Disorder OMIM
ClinVar		 PMID:1804226 PMID:12370306 PMID:12612583 PMID:15917206 PMID:16199547 More... NCBI chr 1:164,381,892...164,469,313
Ensembl chr 1:164,381,845...164,471,226 		JBrowse link
cardiofaciocutaneous syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 4 | ClinVar Annotator: match by term: MAP2K2-related condition OMIM
ClinVar		 PMID:9536098 PMID:16439621 PMID:17366577 PMID:17576681 PMID:17981815 More... NCBI chr 2:74,626,739...74,651,352
Ensembl chr 2:74,626,783...74,651,348 		JBrowse link
cartilage-hair hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Cartilage-hair hypoplasia ClinVar PMID:8034306 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 More... NCBI chr 1:236,380,572...236,383,671
Ensembl chr 1:236,380,577...236,383,666 		JBrowse link
Carvajal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP6 bone morphogenetic protein 6 ISO ClinVar Annotator: match by term: Carvajal syndrome ClinVar PMID:28492532 NCBI chr 7:5,058,817...5,208,868
Ensembl chr 7:5,058,817...5,210,270 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma | ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy | ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair OMIM
ClinVar		 PMID:491020 PMID:2450378 PMID:3198322 PMID:8769422 PMID:9229116 More... NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623 		JBrowse link
G SNRNP48 small nuclear ribonucleoprotein U11/U12 subunit 48 ISO ClinVar Annotator: match by term: Carvajal syndrome ClinVar PMID:28492532 NCBI chr 7:4,919,343...4,940,359
Ensembl chr 7:4,919,351...4,936,036 		JBrowse link
CEDNIK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GGT1 gamma-glutamyltransferase 1 ISO ClinVar Annotator: match by term: CEDNIK syndrome ClinVar PMID:25741868 NCBI chr14:49,618,737...49,638,054 JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: CEDNIK syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr14:50,390,416...50,491,983
Ensembl chr14:50,390,410...50,491,944 		JBrowse link
G SNAP29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: CEDNIK syndrome | ClinVar Annotator: match by term: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome OMIM
ClinVar		 PMID:15968592 PMID:19350501 PMID:19896110 PMID:21073448 PMID:23185475 More... NCBI chr14:50,492,187...50,511,475
Ensembl chr14:50,492,187...50,511,456 		JBrowse link
Chanarin-Dorfman syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis OMIM
ClinVar		 PMID:6181472 PMID:11590543 PMID:14708602 PMID:15136565 PMID:20022472 More... NCBI chr13:27,006,331...27,053,760
Ensembl chr13:27,006,208...27,056,744 		JBrowse link
G ANO10 anoctamin 10 ISO ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis ClinVar PMID:11590543 PMID:25741868 PMID:28492532 NCBI chr13:26,734,098...27,006,163
Ensembl chr13:26,734,107...27,006,539 		JBrowse link
G CDHR5 cadherin related family member 5 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 2:376,449...382,713
Ensembl chr 2:375,726...382,719 		JBrowse link
G CEND1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 2:487,817...490,704
Ensembl chr 2:487,821...490,699 		JBrowse link
G DEAF1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 2:404,514...427,584
Ensembl chr 2:404,533...427,542 		JBrowse link
G DRD4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 2:398,766...401,539
Ensembl chr 2:398,766...402,433 		JBrowse link
G EPS8L2 EPS8 signaling adaptor L2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 2:435,257...452,630
Ensembl chr 2:433,649...452,630 		JBrowse link
G GATD1 glutamine amidotransferase class 1 domain containing 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 2:472,766...484,609
Ensembl chr 2:474,296...480,736 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501 		JBrowse link
G IRF7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 2:372,235...375,572
Ensembl chr 2:372,238...375,378 		JBrowse link
G LMNTD2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 2:323,642...329,782
Ensembl chr 2:323,647...329,660 		JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 2:303,836...323,701
Ensembl chr 2:304,430...323,699 		JBrowse link
G PHRF1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 2:340,536...371,699
Ensembl chr 2:340,528...371,692 		JBrowse link
G PIDD1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 2:499,294...505,740
Ensembl chr 2:499,303...504,871 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:9536098 PMID:16199547 PMID:16644682 PMID:17187067 PMID:17576681 More... NCBI chr 2:513,065...517,962
Ensembl chr 2:513,077...518,182 		JBrowse link
G RASSF7 Ras association domain family member 7 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 2:329,830...332,505
Ensembl chr 2:329,851...332,520 		JBrowse link
G RPLP2 ribosomal protein lateral stalk subunit P2 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 2:507,891...509,818
Ensembl chr 2:507,848...510,782 		JBrowse link
G SCT secretin ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 2:382,783...385,082
Ensembl chr 2:383,799...384,841 		JBrowse link
G SLC25A22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 2:491,288...498,773
Ensembl chr 2:491,293...498,767 		JBrowse link
G TALDO1 transaldolase 1 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 2:464,781...472,836
Ensembl chr 2:464,728...472,835 		JBrowse link
G TMEM80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Neutral lipid storage myopathy ClinVar PMID:28492532 NCBI chr 2:428,297...433,533
Ensembl chr 2:428,303...433,528 		JBrowse link
Chediak-Higashi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA2 adenosine deaminase 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome		 ClinVar PMID:24552284 PMID:24552285 PMID:24737293 PMID:25075844 PMID:25075845 More... NCBI chr 5:69,526,413...69,554,640
Ensembl chr 5:69,526,435...69,554,661 		JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:31898847 NCBI chr 2:86,875,922...87,142,722
Ensembl chr 2:86,873,290...87,142,768 		JBrowse link
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr14:55,749,409...55,818,738
Ensembl chr14:55,749,473...55,818,004 		JBrowse link
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:126,168,944...126,184,813
Ensembl chr 1:126,165,994...126,184,858 		JBrowse link
G CARD14 caspase recruitment domain family member 14 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:9536098 PMID:17576681 PMID:22521419 PMID:24033266 PMID:24999592 More... NCBI chr12:2,248,337...2,275,015
Ensembl chr12:2,255,038...2,271,588 		JBrowse link
G CD27 CD27 molecule ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:64,197,594...64,202,236
Ensembl chr 5:64,196,994...64,202,613 		JBrowse link
G ELANE elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome		 ClinVar PMID:10581030 PMID:11675333 PMID:19036076 PMID:23463630 PMID:25427142 More... NCBI chr 2:77,513,769...77,516,118
Ensembl chr 2:77,509,344...77,516,027 		JBrowse link
G GNG4 G protein subunit gamma 4 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr14:55,652,743...55,725,085
Ensembl chr14:55,653,034...55,726,373 		JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:12837270 PMID:16519819 PMID:19729864 PMID:20842532 PMID:21279638 More...
G ITK IL2 inducible T cell kinase ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:9536098 PMID:17576681 PMID:22289921 PMID:25741868 PMID:28492532 NCBI chr16:66,010,766...66,082,263
Ensembl chr16:66,010,772...66,082,185 		JBrowse link
G LPIN2 lipin 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:2809904 PMID:9536098 PMID:10969284 PMID:15994876 PMID:17576681 More... NCBI chr 6:103,625,725...103,728,151
Ensembl chr 6:103,687,743...103,728,148 		JBrowse link
G LYST lysosomal trafficking regulator ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome | ClinVar Annotator: match by term: LYST-related condition OMIM
ClinVar		 PMID:8717042 PMID:8751863 PMID:8896560 PMID:9215679 PMID:9215680 More... NCBI chr14:55,433,163...55,634,011
Ensembl chr14:55,433,597...55,633,484 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:5458961 PMID:7677151 PMID:9288094 PMID:9288758 PMID:9527614 More... NCBI chr 3:38,934,573...38,948,609 JBrowse link
G MMAB metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:41,357,587...41,371,374
Ensembl chr14:41,357,637...41,373,205 		JBrowse link
G MVK mevalonate kinase ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:1377680 PMID:10369261 PMID:10369262 PMID:10401001 PMID:10417275 More... NCBI chr14:41,320,790...41,357,437
Ensembl chr14:41,281,673...41,357,368 		JBrowse link
G NLRC4 NLR family CARD domain containing 4 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:107,358,117...107,389,557 JBrowse link
G NLRP12 NLR family pyrin domain containing 12 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chediak-Higashi Syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18230725 PMID:21360512 More... NCBI chr 6:56,402,617...56,425,038
Ensembl chr 6:56,402,665...56,425,101 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:49161 PMID:447320 PMID:5173311 PMID:9536098 PMID:11687797 More... NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:9536098 PMID:11385576 PMID:11385577 PMID:11425413 PMID:11875755 More... NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534 		JBrowse link
G PRF1 perforin 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:1156555 PMID:7851014 PMID:10583959 PMID:11179007 PMID:11565555 More... NCBI chr14:73,515,306...73,520,256
Ensembl chr14:73,512,769...73,520,202 		JBrowse link
G PSMB8 proteasome 20S subunit beta 8 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26524591 PMID:28492532 NCBI chr 7:25,058,456...25,061,666
Ensembl chr 7:25,058,465...25,062,245 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:25741868 PMID:27577878 PMID:28492532 PMID:30290665 PMID:35482138 NCBI chr 7:57,100,212...57,145,278
Ensembl chr 7:57,102,757...57,146,751 		JBrowse link
G RAB27A RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:10835631 PMID:15475639 PMID:16199547 PMID:16278825 PMID:18397837 More... NCBI chr 1:116,532,816...116,606,477
Ensembl chr 1:116,532,974...116,606,474 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:25741868 NCBI chr 5:64,287,529...64,312,917
Ensembl chr 5:64,285,015...64,313,612 		JBrowse link
G SGSH N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:22521419 PMID:24033266 PMID:25741868 PMID:26203641 PMID:26255310 More... NCBI chr12:2,241,824...2,248,388
Ensembl chr12:2,241,840...2,248,376 		JBrowse link
G SH2D1A SH2 domain containing 1A ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:9771704 PMID:11049992 PMID:15711562 PMID:22970278 PMID:25741868 More... NCBI chr  X:101,824,602...101,847,265
Ensembl chr  X:101,824,367...101,849,671 		JBrowse link
G SLC7A7 solute carrier family 7 member 7 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:10631139 PMID:15776427 PMID:17530437 PMID:17764084 PMID:20301535 More... NCBI chr 7:76,195,774...76,235,406
Ensembl chr 7:76,198,256...76,235,402 		JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome		 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28087229 PMID:28166811 More... NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198 		JBrowse link
G STX11 syntaxin 11 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:24524345 PMID:25741868 PMID:28492532 NCBI chr 1:21,127,871...21,170,321
Ensembl chr 1:21,127,564...21,159,694 		JBrowse link
G STXBP2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:19804848 PMID:19884660 PMID:20558610 PMID:20798128 PMID:20823128 More... NCBI chr 2:71,504,575...71,513,446
Ensembl chr 2:71,504,569...71,513,422 		JBrowse link
G TBCE tubulin folding cofactor E ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr14:55,816,663...55,901,215
Ensembl chr14:55,816,668...55,901,171 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome		 ClinVar PMID:10199409 PMID:11443543 PMID:16508982 PMID:16635178 PMID:16684962 More... NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909 		JBrowse link
G UNC13D unc-13 homolog D ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:9536098 PMID:10459864 PMID:14622600 PMID:15466010 PMID:16199547 More... NCBI chr12:5,573,428...5,598,914
Ensembl chr12:5,573,668...5,589,085 		JBrowse link
G XIAP X-linked inhibitor of apoptosis ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:20517649 PMID:21119115 PMID:23944711 PMID:24033266 PMID:24616127 More... NCBI chr  X:101,399,374...101,440,021
Ensembl chr  X:101,399,812...101,440,013 		JBrowse link
cherubism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADD1 adducin 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:1,627,146...1,710,653
Ensembl chr 8:1,627,062...1,710,650 		JBrowse link
G ATP5ME ATP synthase membrane subunit e ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:112,092...113,526
Ensembl chr 8:110,605...113,510 		JBrowse link
G CPLX1 complexin 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:197,876...231,721
Ensembl chr 8:197,882...205,371 		JBrowse link
G CTBP1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:475,164...496,510
Ensembl chr 8:475,888...496,002 		JBrowse link
G DGKQ diacylglycerol kinase theta ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:313,325...325,089
Ensembl chr 8:313,329...325,095 		JBrowse link
G DOK7 docking protein 7 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:2,089,645...2,119,076
Ensembl chr 8:2,089,670...2,122,685 		JBrowse link
G FAM193A family with sequence similarity 193 member A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:1,388,442...1,523,935
Ensembl chr 8:1,388,266...1,523,928 		JBrowse link
G FAM53A family with sequence similarity 53 member A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:777,081...796,383
Ensembl chr 8:776,661...795,695 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:365,367...378,384
Ensembl chr 8:365,181...378,375 		JBrowse link
G GAK cyclin G associated kinase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:240,818...296,989
Ensembl chr 8:240,822...296,956 		JBrowse link
G GRK4 G protein-coupled receptor kinase 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:1,737,960...1,792,390
Ensembl chr 8:1,738,333...1,792,374 		JBrowse link
G HAUS3 HAUS augmin like complex subunit 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:1,187,149...1,198,517
Ensembl chr 8:1,073,889...1,197,086 		JBrowse link
G HGFAC HGF activator ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:2,077,164...2,084,506
Ensembl chr 8:2,077,176...2,084,507 		JBrowse link
G HTT huntingtin ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:1,809,768...1,934,002
Ensembl chr 8:1,809,785...1,934,024 		JBrowse link
G IDUA alpha-L-iduronidase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:334,604...351,970
Ensembl chr 8:334,617...351,969 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:898,178...926,500
Ensembl chr 8:898,181...926,593 		JBrowse link
G MAEA macrophage erythroblast attacher, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:543,281...568,437
Ensembl chr 8:543,291...568,452 		JBrowse link
G MFSD10 major facilitator superfamily domain containing 10 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:1,710,524...1,715,015
Ensembl chr 8:1,710,530...1,715,760 		JBrowse link
G MSANTD1 Myb/SANT DNA binding domain containing 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:1,934,960...1,944,754
Ensembl chr 8:1,938,397...1,947,985 		JBrowse link
G MXD4 MAX dimerization protein 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:1,203,163...1,216,807
Ensembl chr 8:1,203,172...1,216,725 		JBrowse link
G MYL5 myosin light chain 5 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:115,986...120,297
Ensembl chr 8:116,711...120,301 		JBrowse link
G NAT8L N-acetyltransferase 8 like ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:1,063,917...1,072,191
Ensembl chr 8:1,063,824...1,072,189 		JBrowse link
G NELFA negative elongation factor complex member A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:1,018,443...1,039,091
Ensembl chr 8:1,018,453...1,039,134 		JBrowse link
G NICOL1 NELL2 interacting cell ontogeny regulator 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:1,055,115...1,058,203
Ensembl chr 8:1,054,236...1,058,200 		JBrowse link
G NKX1-1 NK1 homeobox 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:608,327...611,859
Ensembl chr 8:608,098...611,859 		JBrowse link
G NOP14 NOP14 nucleolar protein ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:1,717,019...1,737,971
Ensembl chr 8:1,716,826...1,737,902 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:938,832...1,018,032
Ensembl chr 8:964,893...1,018,028 		JBrowse link
G PCGF3 polycomb group ring finger 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:140,435...189,796
Ensembl chr 8:140,446...182,261 		JBrowse link
G PDE6B phosphodiesterase 6B ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:80,378...111,960
Ensembl chr 8:80,378...110,672 		JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:21,437...44,415
Ensembl chr 8:20,646...43,330 		JBrowse link
G POLN DNA polymerase nu ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:1,073,337...1,198,538
Ensembl chr 8:1,073,889...1,197,086 		JBrowse link
G RGS12 regulator of G protein signaling 12 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:1,971,390...2,074,970
Ensembl chr 8:1,963,308...2,075,971 		JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:94,117,721...94,127,882
Ensembl chr 4:94,117,882...94,127,384 		JBrowse link
G RNF212 ring finger protein 212 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:393,707...413,952 JBrowse link
G RNF4 ring finger protein 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:1,353,532...1,380,637
Ensembl chr 8:1,353,658...1,380,634 		JBrowse link
G SH3BP2 SH3 domain binding protein 2 ISO ClinVar Annotator: match by term: Cherubism | ClinVar Annotator: match by term: Fibrous dysplasia of jaw OMIM
ClinVar		 PMID:9536098 PMID:11381256 PMID:12900899 PMID:14577811 PMID:15507112 More... NCBI chr 8:1,583,169...1,619,038
Ensembl chr 8:1,583,193...1,619,037 		JBrowse link
G SLC26A1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:335,420...345,955
Ensembl chr 8:335,427...342,444 		JBrowse link
G SLC49A3 solute carrier family 49 member 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:120,088...128,420
Ensembl chr 8:120,102...128,425 		JBrowse link
G SPON2 spondin 2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:447,176...450,829
Ensembl chr 8:447,180...450,538 		JBrowse link
G TACC3 transforming acidic coiled-coil containing protein 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:825,433...835,425
Ensembl chr 8:824,999...837,322 		JBrowse link
G TMEM129 transmembrane protein 129, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:802,940...818,161
Ensembl chr 8:802,940...818,216 		JBrowse link
G TMEM129 transmembrane protein 129, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:819,762...826,233
Ensembl chr 8:819,764...826,192 		JBrowse link
G TMEM175 transmembrane protein 175 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:295,693...313,974
Ensembl chr 8:297,007...313,972 		JBrowse link
G TNIP2 TNFAIP3 interacting protein 2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:1,530,534...1,554,677
Ensembl chr 8:1,533,429...1,554,683 		JBrowse link
G UVSSA UV stimulated scaffold protein A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:573,299...602,617
Ensembl chr 8:573,426...601,944 		JBrowse link
G ZFYVE28 zinc finger FYVE-type containing 28 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:1,225,417...1,312,938
Ensembl chr 8:1,225,429...1,312,521 		JBrowse link
CHILD syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Child syndrome OMIM
ClinVar		 PMID:10710235 PMID:11907515 PMID:12966526 PMID:14527740 PMID:15689440 More... NCBI chr  X:123,906,130...123,921,935
Ensembl chr  X:123,906,199...123,929,117 		JBrowse link
CHIME syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIGL phosphatidylinositol glycan anchor biosynthesis class L ISO ClinVar Annotator: match by term: CHIME syndrome | ClinVar Annotator: match by term: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome | ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 5 | ClinVar Annotator: match by term: Zunich neuroectodermal syndrome OMIM
ClinVar		 PMID:3041916 PMID:7666399 PMID:8893234 PMID:16199547 PMID:18414213 More... NCBI chr12:59,217,267...59,256,896
Ensembl chr12:59,201,556...59,256,829 		JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNF135 ring finger protein 135 ISO ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome ClinVar PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chr12:42,793,755...42,808,937
Ensembl chr12:42,795,409...42,808,897 		JBrowse link
CINCA syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3 | ClinVar Annotator: match by term: Chronic Infantile Neurological Cutaneous Articular syndrome | ClinVar Annotator: match by term: Chronic infantile neurological, cutaneous and articular syndrome | ClinVar Annotator: match by term: Prieur Griscelli syndrome OMIM
ClinVar		 PMID:49161 PMID:5173311 PMID:9536098 PMID:11687797 PMID:11992256 More... NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228 		JBrowse link
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: Cleft lip with or without cleft palate, nonsyndromic, 8 ClinVar PMID:9536098 PMID:16740912 PMID:17576681 PMID:24309930 PMID:25741868 More... NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,105...127,347,068 		JBrowse link
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NECTIN1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, MARGARITA ISLAND TYPE | ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, TYPE 4 | ClinVar Annotator: match by term: Zlotogora-Ogur syndrome OMIM
ClinVar		 PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 More... NCBI chr 9:46,823,552...46,891,564
Ensembl chr 9:46,789,726...46,891,304 		JBrowse link
Clouston syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRYL1 crystallin lambda 1 ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia ClinVar PMID:27480936 PMID:28492532 NCBI chr11:845,471...925,849
Ensembl chr11:845,475...931,648 		JBrowse link
G EDA ectodysplasin A ISO Anhidrotic ectodermal dysplasia, EDA-related OMIA PMID:579352 PMID:3710892 PMID:4055508 PMID:5462764 PMID:6746381 More... NCBI chr  X:55,770,958...56,103,296
Ensembl chr  X:55,771,041...56,103,265 		JBrowse link
G FOXI3 forkhead box I3 ISO Ectodermal dysplasia OMIA PMID:3998444 PMID:8437436 PMID:15771734 PMID:15958791 PMID:18787161 More... NCBI chr 3:57,586,669...57,590,366
Ensembl chr 3:57,586,485...57,590,344 		JBrowse link
G GJA3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr11:750,658...751,889
Ensembl chr11:750,658...751,800 		JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846 		JBrowse link
G GJB6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia syndrome OMIM
ClinVar		 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11874494 More... NCBI chr11:793,276...800,109
Ensembl chr11:793,280...800,046 		JBrowse link
G IFT88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr11:943,444...1,025,617
Ensembl chr11:943,469...1,025,613 		JBrowse link
G IL17D interleukin 17D ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr11:1,029,219...1,066,086
Ensembl chr11:1,029,109...1,066,085 		JBrowse link
G XPO4 exportin 4 ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr11:1,104,270...1,208,144
Ensembl chr11:1,105,014...1,208,116 		JBrowse link
G XPO4 exportin 4 ISO ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr11:1,054,816...1,095,118
Ensembl chr11:1,067,061...1,082,591 		JBrowse link
Cold Hypersensitivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPA1 transient receptor potential cation channel subfamily A member 1 ISO associated with Peripheral Nerve Injuries; RGD PMID:21068322 RGD:10043615 NCBI chr 4:63,493,374...63,558,486
Ensembl chr 4:63,508,104...63,558,484 		JBrowse link
Cole Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 susceptibility ISO ClinVar Annotator: match by term: Cole disease | ClinVar Annotator: match by term: GUTTATE HYPOPIGMENTATION AND PUNCTATE PALMOPLANTAR KERATODERMA WITH OR WITHOUT ECTOPIC CALCIFICATION ClinVar
OMIM		 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 More... NCBI chr 1:31,724,290...31,796,594
Ensembl chr 1:31,722,721...31,796,595 		JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MITF melanocyte inducing transcription factor susceptibility ISO ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness ClinVar
OMIM		 PMID:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:27889061 More... NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,093 		JBrowse link
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | ClinVar Annotator: match by term: OIEDS SYNDROME 1 OMIM
ClinVar		 PMID:7695699 PMID:7942841 PMID:8218237 PMID:8456808 PMID:8613526 More... NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | ClinVar Annotator: match by term: OIEDS SYNDROME 2 OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 PMID:10027910 More... NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397 		JBrowse link
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSG1 desmoglein 1 ISO ClinVar Annotator: match by term: Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | ClinVar Annotator: match by term: SAM SYNDROME OMIM
ClinVar		 PMID:23974871 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:115,237,836...115,272,944
Ensembl chr 6:115,237,677...115,276,645 		JBrowse link
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRKD1 protein kinase D1 ISO ClinVar Annotator: match by term: Congenital heart defects and ectodermal dysplasia OMIM
ClinVar		 PMID:25741868 PMID:25741905 PMID:27479907 PMID:28492532 PMID:32817298 NCBI chr 7:69,527,743...69,872,374
Ensembl chr 7:69,527,811...69,872,863 		JBrowse link
Congenital Ichthyosis with Trichothiodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS ClinVar PMID:7585650 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033 More... NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553 		JBrowse link
congenital symmetric circumferential skin creases 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBB tubulin beta class I ISO ClinVar Annotator: match by term: Symmetric circumferential skin creases, congenital, 1 | ClinVar Annotator: match by term: TUBB-related condition OMIM
ClinVar		 PMID:23246003 PMID:24833723 PMID:25741868 PMID:26637975 PMID:29671837 More... NCBI chr 7:23,247,827...23,252,240
Ensembl chr 7:23,247,850...23,252,233 		JBrowse link
congenital symmetric circumferential skin creases 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAPRE2 microtubule associated protein RP/EB family member 2 ISO ClinVar Annotator: match by term: Skin creases, congenital symmetric circumferential, 2 OMIM
ClinVar		 PMID:19182162 PMID:21262397 PMID:25741868 PMID:26637975 PMID:31903734 NCBI chr 6:118,816,967...118,987,762
Ensembl chr 6:118,943,422...118,987,169 		JBrowse link
cranioectodermal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFT122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia ClinVar PMID:23826986 PMID:24027799 PMID:25741868 PMID:28492532 NCBI chr13:68,828,710...68,902,062
Ensembl chr13:68,828,719...68,902,060 		JBrowse link
G IFT43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia ClinVar NCBI chr 7:99,155,889...99,254,436
Ensembl chr 7:99,158,892...99,254,355 		JBrowse link
G MATN3 matrilin 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:118,185,928...118,206,465
Ensembl chr 3:118,185,975...118,205,558 		JBrowse link
G TGFB3 transforming growth factor beta 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia ClinVar NCBI chr 7:99,133,873...99,162,239
Ensembl chr 7:99,133,879...99,162,232 		JBrowse link
G WDR19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia ClinVar PMID:22019273 PMID:23559409 PMID:23683095 PMID:25726036 PMID:25741868 More... NCBI chr 8:30,453,969...30,553,699
Ensembl chr 8:30,463,862...30,553,703 		JBrowse link
G WDR35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome ClinVar PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:28332779 More... NCBI chr 3:118,209,112...118,279,050
Ensembl chr 3:118,209,139...118,269,452 		JBrowse link
cranioectodermal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFT122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 | ClinVar Annotator: match by term: LEVIN SYNDROME I OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17022080 PMID:17576681 PMID:19648123 More... NCBI chr13:68,828,710...68,902,062
Ensembl chr13:68,828,719...68,902,060 		JBrowse link
G MBD4 methyl-CpG binding domain 4, DNA glycosylase ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 ClinVar PMID:28492532 NCBI chr13:68,816,677...68,828,559
Ensembl chr13:68,816,679...68,828,580 		JBrowse link
G RHO rhodopsin ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 ClinVar PMID:28492532 NCBI chr13:68,908,578...68,913,651
Ensembl chr13:68,908,578...68,913,651 		JBrowse link
cranioectodermal dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MATN3 matrilin 3 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:118,185,928...118,206,465
Ensembl chr 3:118,185,975...118,205,558 		JBrowse link
G SPAG17 sperm associated antigen 17 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 ClinVar NCBI chr 4:102,596,465...102,826,213
Ensembl chr 4:102,427,186...102,826,226 		JBrowse link
G WDR35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20817137 PMID:21473986 More... NCBI chr 3:118,209,112...118,279,050
Ensembl chr 3:118,209,139...118,269,452 		JBrowse link
cranioectodermal dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFT43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 3 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21378380 PMID:24027799 PMID:25741868 More... NCBI chr 7:99,155,889...99,254,436
Ensembl chr 7:99,158,892...99,254,355 		JBrowse link
cranioectodermal dysplasia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDR19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Cranioectodermal dysplasia 4 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22019273 PMID:23559409 PMID:23683095 More... NCBI chr 8:30,453,969...30,553,699
Ensembl chr 8:30,463,862...30,553,703 		JBrowse link
Cryopyrin-Associated Periodic Syndromes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCSAML germinal center associated signaling and motility like ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 NCBI chr 2:56,690,853...56,744,757
Ensembl chr 2:56,687,503...56,744,674 		JBrowse link
G IL17A interleukin 17A treatment ISO RGD PMID:21637346 RGD:9068438 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153 		JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO RGD PMID:16899778 RGD:8549803
G LOC100513138 olfactory receptor 6F1 ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 NCBI chr 2:56,347,655...56,348,578 JBrowse link
G LOC100515362 olfactory receptor 2B11 ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 PMID:29611406 NCBI chr 2:56,862,025...56,862,981
Ensembl chr 2:56,862,025...56,862,978 		JBrowse link
G LOC100516421 olfactory receptor 2G3 ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 NCBI chr 2:56,615,126...56,616,070
Ensembl chr 2:56,615,141...56,616,070 		JBrowse link
G LOC100517331 olfactory receptor 14A16-like ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 NCBI chr 2:56,149,329...56,150,261 JBrowse link
G LOC100624683 olfactory receptor 2W3 ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 NCBI chr 2:55,810,043...55,810,972
Ensembl chr 2:55,810,043...55,810,972 		JBrowse link
G LOC100624876 olfactory receptor 13G1 ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 NCBI chr 2:56,402,657...56,403,580
Ensembl chr 2:56,402,657...56,403,580 		JBrowse link
G LOC100737570 olfactory receptor 2C3-like ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 NCBI chr 2:56,767,973...56,768,920
Ensembl chr 2:56,760,602...56,769,511 		JBrowse link
G LOC100737613 olfactory receptor 2G2-like ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 NCBI chr 2:56,631,761...56,632,714
Ensembl chr 2:56,631,761...56,632,714 		JBrowse link
G LOC100739823 olfactory receptor 11L1 ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 NCBI chr 2:55,853,519...55,854,490
Ensembl chr 2:55,853,477...55,854,490 		JBrowse link
G MME membrane metalloendopeptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12928894 NCBI chr13:95,018,395...95,122,977
Ensembl chr13:95,019,081...95,126,045 		JBrowse link
G NLRC4 NLR family CARD domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:107,358,117...107,389,557 JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome | ClinVar Annotator: match by term: Familial cold urticaria ClinVar PMID:49161 PMID:5173311 PMID:9536098 PMID:11687797 PMID:11992256 More... NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228 		JBrowse link
G PLCG2 phospholipase C gamma 2 ISO ClinVar Annotator: match by term: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED
ClinVar Annotator: match by term: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED | ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome		 ClinVar PMID:16199547 PMID:24033266 PMID:25741868 PMID:28166811 PMID:28492532 More... NCBI chr 6:6,433,146...6,603,092
Ensembl chr 6:6,433,153...6,603,060 		JBrowse link
G SLC6A5 solute carrier family 6 member 5 ISO Hyperekplexia (Startle disease) OMIA PMID:6524730 PMID:21420493 PMID:30847549 PMID:33769611 NCBI chr 2:38,767,447...38,826,891
Ensembl chr 2:38,767,501...38,826,783 		JBrowse link
G TRIM58 tripartite motif containing 58 ISO ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome ClinVar PMID:28492532 NCBI chr 2:55,822,361...55,843,923
Ensembl chr 2:55,821,915...55,860,382 		JBrowse link
cutaneous porphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALAS2 5'-aminolevulinate synthase 2 severity ISO DNA:mutation:exon: c.1757 A > T, p.Y586F (human) RGD PMID:21653323 RGD:11035240 NCBI chr  X:47,871,519...47,896,041
Ensembl chr  X:47,871,523...47,896,000 		JBrowse link
G FECH ferrochelatase ISO DNA:transitions, frameshift mutations:exon:multiple (human)
protein:decreased activity:skin fibroblast, liver (human)		 RGD PMID:1184741 PMID:8601739 RGD:1598932 RGD:4145285 NCBI chr 1:106,861,628...106,898,407
Ensembl chr 1:106,854,011...106,898,591 		JBrowse link
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Congenital erythropoietic porphyria ClinVar PMID:12200364 PMID:17148589 PMID:20301538 PMID:25741868 NCBI chr  X:42,898,431...42,905,939
Ensembl chr  X:42,898,442...42,905,976 		JBrowse link
G UROS uroporphyrinogen III synthase susceptibility ISO ClinVar Annotator: match by term: Congenital erythropoietic porphyria | ClinVar Annotator: match by term: Cutaneous porphyria
DNA:missense mutations,SNP,deletion:cds,introns:multiple		 OMIM
ClinVar
RGD		 PMID:1733834 PMID:1737856 PMID:2331520 PMID:7616657 PMID:7860775 More... RGD:18937001 NCBI chr14:135,101,609...135,131,082
Ensembl chr14:135,101,610...135,131,072 		JBrowse link
cutis laxa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Cutis laxa ClinVar PMID:10811882 PMID:10835642 PMID:11536079 PMID:12176944 PMID:12384774 More... NCBI chr 3:28,260,935...28,356,706
Ensembl chr 3:28,261,282...28,356,646 		JBrowse link
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Cutis laxa ClinVar PMID:18157129 PMID:19321599 PMID:28492532 NCBI chr14:29,250,400...29,297,697
Ensembl chr14:29,250,405...29,297,683 		JBrowse link
G ATP7A ATPase copper transporting alpha susceptibility ISO DNA:splice-site mutation RGD PMID:10739752 RGD:734621 NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,991...62,110,048 		JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Cutis laxa ClinVar PMID:25741868 NCBI chr 3:85,407,677...85,473,251
Ensembl chr 3:85,407,677...85,473,252 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 ISO OMIM:123700 | OMIM:219100 | OMIM:219150 | OMIM:219200 | OMIM:612940 | OMIM:613177 | OMIM:614434 | OMIM:614437 | OMIM:614438 MouseDO NCBI chr 2:6,455,155...6,463,493
Ensembl chr 2:6,450,332...6,463,486 		JBrowse link
G ELN elastin ISO CTD Direct Evidence: marker/mechanism
DNA:deletions:exon:2012del,2039del(human)
associated with lung diseases; DNA:duplication: :
DNA:deletion mutations:cds:		 CTD
RGD		 PMID:2745999 PMID:9873040 PMID:12189163 PMID:15381555 PMID:15955094 More... RGD:1580330 RGD:9585732 RGD:9585738 RGD:9585740 RGD:9585761 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897 		JBrowse link
G FBLN5 fibulin 5 ISO ClinVar Annotator: match by term: Cutis Laxa, Dominant/Recessive | ClinVar Annotator: match by term: Cutis laxa ClinVar PMID:15269314 PMID:16374472 PMID:16652333 PMID:17035250 PMID:19194475 More... NCBI chr 7:113,423,629...113,526,412
Ensembl chr 7:113,423,632...113,512,198 		JBrowse link
G LOX lysyl oxidase ISO ClinVar Annotator: match by term: Cutis laxa ClinVar PMID:25741868 NCBI chr 2:125,595,115...125,607,026
Ensembl chr 2:125,591,789...125,607,594 		JBrowse link
G LTBP4 latent transforming growth factor beta binding protein 4 ISO ClinVar Annotator: match by term: Cutis laxa ClinVar NCBI chr 6:48,831,018...48,861,503
Ensembl chr 6:48,831,014...48,861,507 		JBrowse link
G PYCR1 pyrroline-5-carboxylate reductase 1 ISO ClinVar Annotator: match by term: Cutis laxa ClinVar PMID:16199547 PMID:16233902 PMID:18304158 PMID:19576563 PMID:19648921 More... NCBI chr12:1,060,028...1,064,808
Ensembl chr12:1,060,570...1,064,805 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Cutis laxa ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:15,194,028...15,202,936
Ensembl chr 2:15,194,017...15,210,425 		JBrowse link
G SRFBP1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Cutis laxa ClinVar PMID:25741868 NCBI chr 2:125,507,744...125,574,751
Ensembl chr 2:125,507,837...125,575,679 		JBrowse link
Darier Disease, Acral Hemorrhagic Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Darier disease, acral hemorrhagic type ClinVar PMID:10441324 PMID:25741868 NCBI chr14:31,674,659...31,744,981
Ensembl chr14:31,674,757...31,744,969 		JBrowse link
Darier Disease, Segmental term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Darier disease, segmental ClinVar PMID:11121153 NCBI chr14:31,674,659...31,744,981
Ensembl chr14:31,674,757...31,744,969 		JBrowse link
De Sanctis-Cacchione syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC6 ERCC excision repair 6, chromatin remodeling factor susceptibility ISO ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME ClinVar
OMIM		 PMID:887325 PMID:1339317 PMID:7063265 PMID:9150142 PMID:9443879 More... NCBI chr14:89,998,125...90,075,911
Ensembl chr14:90,002,024...90,075,898 		JBrowse link
Deficiency of Interleukin-1 Receptor Antagonist term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1RN interleukin 1 receptor antagonist ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis OMIM
ClinVar		 PMID:9536098 PMID:12837270 PMID:16199547 PMID:16519819 PMID:17576681 More...
G NFKBIA NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277 		JBrowse link
dermatopathia pigmentosa reticularis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC110255312 keratin, type I cytoskeletal 14 ISO ClinVar Annotator: match by term: Dermatopathia pigmentosa reticularis OMIM
ClinVar		 PMID:1303619 PMID:1717157 PMID:10730767 PMID:11710919 PMID:16098032 More... NCBI chr12:21,074,965...21,079,393
Ensembl chr12:21,024,314...21,119,396 		JBrowse link
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis OMIM
ClinVar		 PMID:3198322 PMID:9536098 PMID:12101406 PMID:12802069 PMID:15941723 More... NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623 		JBrowse link
Dowling-Degos disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM10 ADAM metallopeptidase domain 10 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:113,289,480...113,407,940
Ensembl chr 1:113,289,209...113,412,798 		JBrowse link
G KRT5 keratin 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
G POFUT1 protein O-fucosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:35,856,557...35,883,918
Ensembl chr17:35,856,575...35,882,964 		JBrowse link
G POGLUT1 protein O-glucosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:140,763,231...140,793,645
Ensembl chr13:140,764,216...140,793,596 		JBrowse link
Dowling-Degos Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: Dowling-Degos disease 1 OMIM
ClinVar		 PMID:3188604 PMID:7520042 PMID:8807337 PMID:14674915 PMID:16465624 More... NCBI chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
Dowling-Degos Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POFUT1 protein O-fucosyltransferase 1 ISO ClinVar Annotator: match by term: Dowling-Degos disease 2 OMIM
ClinVar		 PMID:23684010 PMID:25229252 PMID:25741868 PMID:28492532 PMID:31566882 NCBI chr17:35,856,557...35,883,918
Ensembl chr17:35,856,575...35,882,964 		JBrowse link
Dowling-Degos Disease 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POGLUT1 protein O-glucosyltransferase 1 ISO ClinVar Annotator: match by term: Dowling-Degos disease 4 OMIM
ClinVar		 PMID:20664185 PMID:21971768 PMID:24387993 PMID:25741868 PMID:27479915 More... NCBI chr13:140,763,231...140,793,645
Ensembl chr13:140,764,216...140,793,596 		JBrowse link
Dyschromatosis Universalis Hereditaria 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SASH1 SAM and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Dyschromatosis universalis hereditaria 1 OMIM
ClinVar		 PMID:12190883 PMID:15150790 PMID:23333244 PMID:25741868 PMID:26203640 More... NCBI chr 1:17,306,364...17,663,117
Ensembl chr 1:17,306,373...17,511,672 		JBrowse link
Dyschromatosis Universalis Hereditaria 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Dyschromatosis universalis hereditaria 3 OMIM
ClinVar		 PMID:2998465 PMID:15142123 PMID:23180570 PMID:23519333 PMID:24224009 More... NCBI chr15:121,246,180...121,254,350
Ensembl chr15:121,246,187...121,254,331 		JBrowse link
dyskeratosis congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,485,076...124,501,742
Ensembl chr  X:124,485,076...124,501,741 		JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,573,521...52,581,755
Ensembl chr12:52,576,402...52,581,748 		JBrowse link
G ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,683,230...52,698,746
Ensembl chr12:52,685,045...52,697,459 		JBrowse link
G ALOX12 arachidonate 12-lipoxygenase, 12S type ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,401,861...52,414,913
Ensembl chr12:52,401,810...52,414,903 		JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,292,530...53,302,850
Ensembl chr12:53,292,526...53,302,993 		JBrowse link
G ALOX15B arachidonate 15-lipoxygenase type B ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,259,867...53,281,127
Ensembl chr12:53,271,583...53,281,123 		JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,309,845...53,331,780
Ensembl chr12:53,309,848...53,331,523 		JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,641,222...124,655,312
Ensembl chr  X:124,641,226...124,655,279 		JBrowse link
G ARHGEF15 Rho guanine nucleotide exchange factor 15 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,495,409...53,506,373
Ensembl chr12:53,495,453...53,506,352 		JBrowse link
G ASGR1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,536,738...52,540,636
Ensembl chr12:52,536,738...52,544,791 		JBrowse link
G ASGR2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,479,404...52,506,569
Ensembl chr12:52,464,689...52,506,574 		JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,925,697...52,932,638
Ensembl chr12:52,925,693...52,932,635 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,318,874...124,357,653
Ensembl chr  X:124,301,713...124,357,653 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,952,532...124,960,344
Ensembl chr  X:124,952,500...124,960,343 		JBrowse link
G AURKB aurora kinase B ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,410,833...53,426,165
Ensembl chr12:53,410,177...53,423,225 		JBrowse link
G AVPR2 vasopressin receptor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,638,433...124,640,969
Ensembl chr  X:124,638,523...124,640,966 		JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 2:80,349,732...80,359,878
Ensembl chr 2:80,346,307...80,359,973 		JBrowse link
G BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,456,999...124,484,923
Ensembl chr  X:124,457,001...124,484,743 		JBrowse link
G BCL6B BCL6B transcription repressor ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,427,405...52,433,231
Ensembl chr12:52,427,462...52,433,228 		JBrowse link
G BGN biglycan ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,282,048...124,295,450
Ensembl chr  X:124,275,305...124,295,445 		JBrowse link
G BORCS6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,394,514...53,406,752
Ensembl chr12:53,404,339...53,406,207 		JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,383,392...125,439,082
Ensembl chr  X:125,383,414...125,439,082 		JBrowse link
G C12H17orf49 chromosome 12 C17orf49 homolog ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,418,989...52,421,938
Ensembl chr12:52,418,984...52,421,935 		JBrowse link
G CCNQ cyclin Q ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,361,003...124,370,072
Ensembl chr  X:124,361,006...124,369,867 		JBrowse link
G CD68 CD68 molecule ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,874,754...52,877,256
Ensembl chr12:52,874,785...52,877,695 		JBrowse link
G CHD3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,135,767...53,163,244
Ensembl chr12:53,139,366...53,163,243 		JBrowse link
G CHRNB1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,749,422...52,774,642
Ensembl chr12:52,749,473...52,758,488 		JBrowse link
G CLDN7 claudin 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,612,517...52,628,376
Ensembl chr12:52,612,510...52,628,362 		JBrowse link
G CLEC10A C-type lectin domain containing 10A ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,461,750...52,464,632 JBrowse link
G CLIC2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,546,451...125,560,059
Ensembl chr  X:125,546,467...125,570,523 		JBrowse link
G CMC4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,372,941...125,383,272
Ensembl chr  X:125,372,941...125,376,999 		JBrowse link
G CNTROB centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,181,096...53,201,670
Ensembl chr12:53,181,642...53,201,667 		JBrowse link
G CTC1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:9536098 PMID:16199547 PMID:16943371 PMID:17576681 PMID:18076099 More... NCBI chr12:53,427,807...53,454,149
Ensembl chr12:53,428,185...53,454,096 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:768476 PMID:7607282 PMID:9536098 PMID:9590285 PMID:9888995 More... NCBI chr  X:125,218,928...125,228,881
Ensembl chr  X:125,218,923...125,229,525 		JBrowse link
G DLG4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,550,138...52,574,021
Ensembl chr12:52,550,141...52,575,143 		JBrowse link
G DNAH2 dynein axonemal heavy chain 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:52,982,217...53,086,744
Ensembl chr12:52,992,843...53,086,744 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,931,410...124,937,569
Ensembl chr  X:124,931,410...124,939,965 		JBrowse link
G DUSP9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,404,852...124,414,246
Ensembl chr  X:124,409,289...124,414,212 		JBrowse link
G DVL2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,581,687...52,590,266
Ensembl chr12:52,581,688...52,590,285 		JBrowse link
G EFNB3 ephrin B3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:52,970,398...52,976,260
Ensembl chr12:52,970,285...52,976,257 		JBrowse link
G EIF4A1 eukaryotic translation initiation factor 4A1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,868,479...52,874,248
Ensembl chr12:52,868,434...52,874,249 		JBrowse link
G EIF5A eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,659,040...52,664,686 JBrowse link
G ELP5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,606,140...52,612,275
Ensembl chr12:52,606,293...52,612,266 		JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,883,047...124,885,429
Ensembl chr  X:124,883,049...124,885,432 		JBrowse link
G ENOSF1 enolase superfamily member 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:25741868 PMID:35931051 NCBI chr 6:105,613,211...105,642,533
Ensembl chr 6:105,613,215...105,645,113 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,265,330...125,350,853
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G F8A1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,280,978...125,282,771 JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,015,985...125,025,119
Ensembl chr  X:125,014,714...125,025,104 		JBrowse link
G FAM50A family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,967,821...124,973,487
Ensembl chr  X:124,967,510...124,973,483 		JBrowse link
G FBXO39 F-box protein 39 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:50,635,915...50,723,841
Ensembl chr12:50,635,905...50,640,213 		JBrowse link
G FGF11 fibroblast growth factor 11 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,742,090...52,749,331
Ensembl chr12:52,742,131...52,748,487 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G FUNDC2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,354,032...125,366,029
Ensembl chr  X:125,354,021...125,372,610 		JBrowse link
G FXR2 FMR1 autosomal homolog 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,885,932...52,903,257
Ensembl chr12:52,882,870...52,903,450 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		JBrowse link
G GAB3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,158,148...125,209,080
Ensembl chr  X:125,158,154...125,209,035 		JBrowse link
G GABARAP GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,596,130...52,598,166
Ensembl chr12:52,596,543...52,598,194 		JBrowse link
G GAR1 GAR1 ribonucleoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22299032 NCBI chr 8:112,401,114...112,414,277
Ensembl chr 8:112,400,005...112,414,033 		JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,960,835...124,966,833
Ensembl chr  X:124,960,990...124,966,832 		JBrowse link
G GMPR2 guanosine monophosphate reductase 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 7:75,060,680...75,070,079
Ensembl chr 7:75,060,676...75,070,084 		JBrowse link
G GPS2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,664,869...52,667,643
Ensembl chr12:52,664,875...52,667,610 		JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,200,570...53,250,566
Ensembl chr12:53,235,801...53,249,467 		JBrowse link
G H2AB1 H2A.B variant histone 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,277,575...125,280,752 JBrowse link
G HAUS7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,234,735...124,258,133
Ensembl chr  X:124,234,736...124,258,098 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,673,125...124,694,846
Ensembl chr  X:124,673,128...124,694,152 		JBrowse link
G HES7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,334,350...53,339,336
Ensembl chr12:53,333,907...53,337,575 		JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,528,643...124,537,570
Ensembl chr  X:124,528,585...124,537,575 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860 		JBrowse link
G KCNAB3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,171,315...53,178,924
Ensembl chr12:53,171,319...53,180,823 		JBrowse link
G KCTD11 potassium channel tetramerization domain containing 11 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,698,155...52,700,965
Ensembl chr12:52,698,834...52,699,649 		JBrowse link
G KDM6B lysine demethylase 6B ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,087,072...53,108,949
Ensembl chr12:53,098,964...53,108,214 		JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307 		JBrowse link
G LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,001,673...125,003,206 JBrowse link
G LOC100521350 transmembrane protein 256-like ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 1:73,130,766...73,131,276 JBrowse link
G LOC110257703 paraneoplastic antigen-like protein 6B ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,203,040...124,204,023 JBrowse link
G LOC494564 medium-wave-sensitive opsin ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,816,014...124,828,225 JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		JBrowse link
G MIR195 microRNA mir-195 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,422,039...52,422,118
Ensembl chr12:52,422,039...52,422,118 		JBrowse link
G MPDU1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,878,924...52,882,854
Ensembl chr12:52,878,764...52,882,863 		JBrowse link
G MPP1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,230,412...125,252,384
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G MTCP1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,372,941...125,377,910
Ensembl chr  X:125,377,350...125,381,178 		JBrowse link
G N4BP3 NEDD4 binding protein 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 2:80,251,234...80,263,905
Ensembl chr 2:80,251,238...80,263,918 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,658,429...124,662,744
Ensembl chr  X:124,658,158...124,662,702 		JBrowse link
G NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,111,249...53,112,487 JBrowse link
G NEURL4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,667,826...52,680,158
Ensembl chr12:52,667,831...52,680,189 		JBrowse link
G NHP2 NHP2 ribonucleoprotein ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18523010 PMID:25741868 More... NCBI chr 2:80,223,439...80,227,614 JBrowse link
G NOP10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:80,161,024...80,162,299
Ensembl chr 7:80,161,096...80,164,328 		JBrowse link
G NPM1 nucleophosmin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570891 NCBI chr16:52,767,263...52,781,862
Ensembl chr16:52,765,298...52,781,771 		JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:123,906,130...123,921,935
Ensembl chr  X:123,906,199...123,929,117 		JBrowse link
G ODF4 outer dense fiber of sperm tails 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,517,175...53,525,458 JBrowse link
G PARN poly(A)-specific ribonuclease ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:25893599 NCBI chr 3:28,616,808...28,802,506
Ensembl chr 3:28,612,269...28,802,504 		JBrowse link
G PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,543,845...124,567,477
Ensembl chr  X:124,544,944...124,567,369 		JBrowse link
G PER1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,361,863...53,376,723
Ensembl chr12:53,361,889...53,374,248 		JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20522432 PMID:21056402 More... NCBI chr12:53,458,401...53,477,254 JBrowse link
G PHF23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,590,801...52,595,208
Ensembl chr12:52,590,804...52,595,266 		JBrowse link
G PLSCR3 phospholipid scramblase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,719,060...52,724,570
Ensembl chr12:52,719,064...52,724,982 		JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,982,307...124,997,098
Ensembl chr  X:124,983,943...124,997,072 		JBrowse link
G PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,507,953...124,522,780
Ensembl chr  X:124,509,526...124,522,767 		JBrowse link
G PNCK pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,425,867...124,430,000
Ensembl chr  X:124,425,872...124,429,261 		JBrowse link
G PNMA5 PNMA family member 5 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:123,998,935...124,001,201
Ensembl chr  X:123,999,037...124,000,974 		JBrowse link
G POLR2A RNA polymerase II subunit A ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,779,833...52,806,210
Ensembl chr12:52,779,828...52,807,598 		JBrowse link
G PROP1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr 2:79,627,466...79,631,270
Ensembl chr 2:79,627,603...79,631,270 		JBrowse link
G RAB39B RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,520,764...125,528,253
Ensembl chr  X:125,520,497...125,527,379 		JBrowse link
G RANGRF RAN guanine nucleotide release factor ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,484,584...53,486,716
Ensembl chr12:53,485,265...53,486,713 		JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,662,957...124,670,522
Ensembl chr  X:124,662,719...124,672,235 		JBrowse link
G RMND5B required for meiotic nuclear division 5 homolog B ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18523010 PMID:25741868 PMID:28492532 NCBI chr 2:80,226,047...80,247,358
Ensembl chr 2:80,225,496...80,246,945 		JBrowse link
G RNASEK ribonuclease K ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,416,903...52,418,876
Ensembl chr12:52,417,135...52,418,873 		JBrowse link
G RNF227 ring finger protein 227 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,163,996...53,166,418
Ensembl chr12:53,163,866...53,166,440 		JBrowse link
G RPL10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,927,249...124,929,791
Ensembl chr  X:124,926,772...124,929,791 		JBrowse link
G RPL26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,548,313...53,553,453
Ensembl chr12:53,548,321...53,553,455 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19461895 PMID:23329068 More... NCBI chr17:62,611,844...62,636,628
Ensembl chr17:62,611,909...62,634,690 		JBrowse link
G SAT2 spermidine/spermine N1-acetyltransferase family member 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,911,725...52,913,314
Ensembl chr12:52,911,725...52,913,363 		JBrowse link
G SENP3 SUMO specific peptidase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,857,463...52,867,583
Ensembl chr12:52,765,187...52,867,576 		JBrowse link
G SHBG sex hormone binding globulin ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,914,711...52,919,092 JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,010,128...125,013,992
Ensembl chr  X:125,010,131...125,011,928 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,007,121...125,009,657
Ensembl chr  X:125,007,122...125,013,980 		JBrowse link
G SLC13A5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:50,679,900...50,710,985
Ensembl chr12:50,680,444...50,705,261 		JBrowse link
G SLC16A11 solute carrier family 16 member 11 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,434,607...52,442,476
Ensembl chr12:52,439,418...52,442,435 		JBrowse link
G SLC16A13 solute carrier family 16 member 13 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,435,519...52,439,631
Ensembl chr12:52,435,537...52,439,994 		JBrowse link
G SLC25A35 solute carrier family 25 member 35 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,486,687...53,495,972
Ensembl chr12:53,485,626...53,495,972 		JBrowse link
G SLC2A4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,628,746...52,634,965
Ensembl chr12:52,628,450...52,634,967 		JBrowse link
G SLC35G6 solute carrier family 35 member G6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,774,664...52,779,575 JBrowse link
G SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,435,282...124,452,182
Ensembl chr  X:124,294,856...124,452,182 		JBrowse link
G SMIM9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,254,737...125,262,113
Ensembl chr  X:125,255,157...125,259,938 		JBrowse link
G SOX15 SRY-box transcription factor 15 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,882,840...52,885,785 JBrowse link
G SPEM2 SPEM family member 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,729,001...52,731,131
Ensembl chr12:52,728,826...52,730,822 		JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,524,102...124,528,607
Ensembl chr  X:124,524,083...124,528,945 		JBrowse link
G SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,537,545...124,541,635
Ensembl chr  X:124,537,540...124,541,637 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,946,273 		JBrowse link
G TEKT1 tektin 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:50,526,188...50,552,083
Ensembl chr12:50,526,193...50,580,552 		JBrowse link
G TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:9536098 PMID:15814878 PMID:15885610 PMID:16199547 PMID:16247010 More... NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421 		JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,828,222...124,840,093
Ensembl chr  X:124,828,225...124,834,315 		JBrowse link
G TGM1 transglutaminase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18669893 PMID:20301779 PMID:21199492 PMID:22211879 PMID:25741868 More... NCBI chr 7:75,030,123...75,045,157
Ensembl chr 7:75,029,923...75,047,300 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18252230 PMID:18669893 More... NCBI chr 7:75,056,790...75,067,895
Ensembl chr 7:75,056,798...75,063,979 		JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,840,072...124,867,313
Ensembl chr  X:124,839,995...124,867,614 		JBrowse link
G TMEM102 transmembrane protein 102 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,738,942...52,749,326
Ensembl chr12:52,739,238...52,741,322 		JBrowse link
G TMEM107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,394,500...53,397,064
Ensembl chr12:53,393,332...53,397,064 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,695,050...124,699,349 JBrowse link
G TMEM88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,109,467...53,110,648
Ensembl chr12:53,109,621...53,110,644 		JBrowse link
G TMEM95 transmembrane protein 95 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,701,119...52,704,121
Ensembl chr12:52,701,052...52,703,216 		JBrowse link
G TNFSF12 TNF superfamily member 12 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,843,026...52,853,328
Ensembl chr12:52,843,026...52,853,325 		JBrowse link
G TNFSF13 TNF superfamily member 13 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,853,646...52,857,033
Ensembl chr12:52,853,904...52,857,029 		JBrowse link
G TNK1 tyrosine kinase non receptor 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,711,133...52,719,101
Ensembl chr12:52,711,921...52,719,096 		JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:17683073 PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 More... NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
G TRAPPC1 trafficking protein particle complex subunit 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,179,257...53,180,981 JBrowse link
G TREX2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,234,736...124,244,193
Ensembl chr  X:124,234,738...124,238,598 		JBrowse link
G TYMS thymidylate synthetase ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:25741868 PMID:35931051 NCBI chr 6:105,642,730...105,660,279
Ensembl chr 6:105,642,381...105,660,578 		JBrowse link
G VAMP2 vesicle associated membrane protein 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr12:53,378,407...53,382,243
Ensembl chr12:53,378,409...53,382,240 		JBrowse link
G VBP1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:125,485,357...125,506,781
Ensembl chr  X:125,480,808...125,506,771 		JBrowse link
G WRAP53 WD repeat containing antisense to TP53 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:17683073 PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 More... NCBI chr12:52,954,674...52,968,371
Ensembl chr12:52,954,669...52,968,364 		JBrowse link
G YBX2 Y-box binding protein 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,635,383...52,642,443
Ensembl chr12:52,635,385...52,641,651 		JBrowse link
G ZBTB4 zinc finger and BTB domain containing 4 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:28492532 NCBI chr12:52,759,912...52,775,725 JBrowse link
G ZFP92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,215,906...124,227,853
Ensembl chr  X:124,216,324...124,224,778 		JBrowse link
G ZNF185 zinc finger protein 185 with LIM domain ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:123,942,981...123,988,102
Ensembl chr  X:123,944,210...123,987,962 		JBrowse link
G ZNF275 zinc finger protein 275 ISO ClinVar Annotator: match by term: Dyskeratosis congenita ClinVar PMID:18177777 PMID:28492532 NCBI chr  X:124,156,708...124,173,566 JBrowse link
DYSKERATOSIS CONGENITA, DIGENIC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ENOSF1 enolase superfamily member 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, digenic ClinVar PMID:25741868 PMID:35931051 NCBI chr 6:105,613,211...105,642,533
Ensembl chr 6:105,613,215...105,645,113 		JBrowse link
G TYMS thymidylate synthetase ISO ClinVar Annotator: match by term: Dyskeratosis congenita, digenic OMIM
ClinVar		 PMID:25741868 PMID:35931051 NCBI chr 6:105,642,730...105,660,279
Ensembl chr 6:105,642,381...105,660,578 		JBrowse link
ectodermal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Aplasia cutis congenita ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 4:95,154,230...95,197,308
Ensembl chr 4:95,154,358...95,197,304 		JBrowse link
G BMS1 BMS1 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Aplasia cutis congenita ClinVar PMID:23785305 PMID:25741868 NCBI chr14:61,056,075...61,125,984
Ensembl chr14:61,087,670...61,125,980 		JBrowse link
G CRYL1 crystallin lambda 1 ISO ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia ClinVar PMID:27480936 PMID:28492532 NCBI chr11:845,471...925,849
Ensembl chr11:845,475...931,648 		JBrowse link
G EDA ectodysplasin A ISO ClinVar Annotator: match by term: Anhidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal dysplasia ClinVar PMID:9736768 PMID:11279189 PMID:11416205 PMID:15663448 PMID:18231121 More... NCBI chr  X:55,770,958...56,103,296
Ensembl chr  X:55,771,041...56,103,265 		JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Dominant ClinVar PMID:16435307 PMID:18065779 PMID:18561327 PMID:18704500 PMID:18816645 More... NCBI chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784 		JBrowse link
G EDARADD EDAR associated death domain ISO ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr14:54,924,156...54,992,206
Ensembl chr14:54,925,771...54,990,848 		JBrowse link
G GJA3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr11:750,658...751,889
Ensembl chr11:750,658...751,800 		JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846 		JBrowse link
G GJB6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: Hidrotic Ectodermal Dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia
ClinVar Annotator: match by term: Hidrotic Ectodermal Dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Dominant | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Recessive		 ClinVar PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 More... NCBI chr11:793,276...800,109
Ensembl chr11:793,280...800,046 		JBrowse link
G IFT88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr11:943,444...1,025,617
Ensembl chr11:943,469...1,025,613 		JBrowse link
G IL17D interleukin 17D ISO ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr11:1,029,219...1,066,086
Ensembl chr11:1,029,109...1,066,085 		JBrowse link
G ITGB4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18348258 NCBI chr12:5,651,292...5,685,601
Ensembl chr12:5,651,292...5,685,611 		JBrowse link
G LOC100511376 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Dominant ClinVar PMID:16435307 PMID:18065779 PMID:18561327 PMID:18704500 PMID:18816645 More... NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495 		JBrowse link
G LOC100737030 keratin, type I cytoskeletal 42 susceptibility ISO protein:mutation: ; N92D; pachyonychia congenita, OMIM:167210 RGD PMID:7539673 RGD:1600184 NCBI chr12:21,014,182...21,022,123 JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 ISO cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X RGD PMID:10932188 RGD:1599795 NCBI chr 9:46,823,552...46,891,564
Ensembl chr 9:46,789,726...46,891,304 		JBrowse link
G PKP1 plakophilin 1 ISO RGD PMID:9326952 RGD:1599084 NCBI chr10:23,689,394...23,735,457
Ensembl chr10:23,689,380...23,735,453 		JBrowse link
G RHOA ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570889 NCBI chr13:31,918,484...31,991,207
Ensembl chr13:31,918,834...31,986,607 		JBrowse link
G TP63 tumor protein p63 ISO DNA:missense mutation:exon:p.K193E (577A>G) (human) RGD PMID:22574117 RGD:11568633 NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,105...127,347,068 		JBrowse link
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Ectodermal dysplasia ClinVar PMID:17847007 PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 More... NCBI chr15:120,925,204...120,939,032
Ensembl chr15:120,925,499...120,938,430 		JBrowse link
G XPO4 exportin 4 ISO ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr11:1,104,270...1,208,144
Ensembl chr11:1,105,014...1,208,116 		JBrowse link
G XPO4 exportin 4 ISO ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia ClinVar PMID:28492532 NCBI chr11:1,054,816...1,095,118
Ensembl chr11:1,067,061...1,082,591 		JBrowse link
ectodermal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDA ectodysplasin A ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia OMIM
ClinVar		 PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... NCBI chr  X:55,770,958...56,103,296
Ensembl chr  X:55,771,041...56,103,265 		JBrowse link
G EDA2R ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:52,522,231...52,533,080 JBrowse link
G MVK mevalonate kinase ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:25741868 NCBI chr14:41,320,790...41,357,437
Ensembl chr14:41,281,673...41,357,368 		JBrowse link
ectodermal dysplasia 10A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 3:47,470,649...47,525,606
Ensembl chr 3:47,470,709...47,523,529 		JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:11279189 More... NCBI chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784 		JBrowse link
G EDARADD EDAR associated death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921 NCBI chr14:54,924,156...54,992,206
Ensembl chr14:54,925,771...54,990,848 		JBrowse link
G GCC2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 3:47,718,251...47,759,060
Ensembl chr 3:47,718,254...47,758,999 		JBrowse link
G LIMS1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 3:47,607,737...47,704,921
Ensembl chr 3:47,606,230...47,672,884 		JBrowse link
G LOC100511376 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant ClinVar PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:11279189 More... NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495 		JBrowse link
G LOC100623441 sulfotransferase 1C4 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 3:47,765,022...47,777,178
Ensembl chr 3:47,766,407...47,776,867 		JBrowse link
G SLC5A7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 3:47,994,116...48,020,744
Ensembl chr 3:47,996,335...48,022,379 		JBrowse link
G SULT1C2 sulfotransferase family 1C member 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 3:47,807,830...47,824,199
Ensembl chr 3:47,807,832...47,824,187 		JBrowse link
G SULT1C3 sulfotransferase family 1C member 3 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 3:47,838,671...47,864,646
Ensembl chr 3:47,838,558...47,856,943 		JBrowse link
ectodermal dysplasia 10B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:28492532 NCBI chr 3:47,470,649...47,525,606
Ensembl chr 3:47,470,709...47,523,529 		JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive OMIM
ClinVar		 PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 More... NCBI chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784 		JBrowse link
G EDARADD EDAR associated death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar NCBI chr14:54,924,156...54,992,206
Ensembl chr14:54,925,771...54,990,848 		JBrowse link
G LOC100511376 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 More... NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495 		JBrowse link
ectodermal dysplasia 11A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDARADD EDAR associated death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant OMIM
ClinVar		 PMID:11780064 PMID:17354266 PMID:20222921 PMID:20979233 PMID:21626677 More... NCBI chr14:54,924,156...54,992,206
Ensembl chr14:54,925,771...54,990,848 		JBrowse link
ectodermal dysplasia 11B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 More... NCBI chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784 		JBrowse link
G EDARADD EDAR associated death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive OMIM
ClinVar		 PMID:9245989 PMID:11212737 PMID:11780064 PMID:17354266 PMID:25741868 More... NCBI chr14:54,924,156...54,992,206
Ensembl chr14:54,925,771...54,990,848 		JBrowse link
G LOC100511376 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 More... NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495 		JBrowse link
ectodermal dysplasia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDF1 keratinocyte differentiation factor 1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type OMIM
ClinVar		 PMID:25741868 PMID:27838789 PMID:28492532 NCBI chr 6:84,254,493...84,265,112
Ensembl chr 6:84,254,499...84,265,041 		JBrowse link
ectodermal dysplasia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C14H22orf31 chromosome 14 C22orf31 homolog ISO ClinVar Annotator: match by term: Ectodermal dysplasia 13, hair/tooth type ClinVar PMID:25741868 PMID:28492532 NCBI chr14:46,242,376...46,254,129 JBrowse link
G KREMEN1 kringle containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 13, hair/tooth type OMIM
ClinVar		 PMID:25741868 PMID:27049303 PMID:28492532 NCBI chr14:46,254,248...46,323,355
Ensembl chr14:46,254,326...46,323,354 		JBrowse link
ectodermal dysplasia 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TSPEAR thrombospondin type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | ClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type, with hypohidrosis | ClinVar Annotator: match by term: TSPEAR-related disorder of tooth and hair follicle morphogenesis OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22678063 PMID:24033266 PMID:25741868 More... NCBI chr13:207,285,878...207,412,523
Ensembl chr13:207,285,886...207,412,511 		JBrowse link
ectodermal dysplasia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CST6 cystatin E/M ISO ClinVar Annotator: match by term: Ectodermal dysplasia 15, hypohidrotic/hair type OMIM
ClinVar		 PMID:25741868 PMID:25741909 PMID:30425301 NCBI chr 2:6,323,737...6,325,519
Ensembl chr 2:6,323,740...6,325,415 		JBrowse link
ectodermal dysplasia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXC13 homeobox C13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24239177 NCBI chr 5:19,151,096...19,159,008
Ensembl chr 5:19,151,084...19,158,646 		JBrowse link
G KRT74 keratin 74 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 4, hair/nail type ClinVar PMID:20409997 PMID:24714551 PMID:25741868 PMID:28492532 NCBI chr 5:17,914,911...17,924,004
Ensembl chr 5:17,914,912...17,924,004 		JBrowse link
G LOC100524022 keratin, type II cuticular Hb5 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 4, hair/nail type OMIM
ClinVar		 PMID:16525032 PMID:19865094 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:17,679,196...17,686,714
Ensembl chr 5:17,679,199...17,690,711 		JBrowse link
ectodermal dysplasia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT74 keratin 74 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 7, hair/nail type OMIM
ClinVar		 PMID:20409997 PMID:24714551 PMID:25741868 PMID:28492532 NCBI chr 5:17,914,911...17,924,004
Ensembl chr 5:17,914,912...17,924,004 		JBrowse link
ectodermal dysplasia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXC13 homeobox C13 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 9, hair/nail type OMIM
ClinVar		 PMID:23063621 PMID:23315978 PMID:25741868 NCBI chr 5:19,151,096...19,159,008
Ensembl chr 5:19,151,084...19,158,646 		JBrowse link
ectodermal dysplasia and immune deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY ClinVar PMID:25741868 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY ClinVar PMID:25741868 NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		JBrowse link
ectodermal dysplasia and immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia OMIM
ClinVar		 PMID:11242109 PMID:11590134 PMID:15229184 PMID:15833888 PMID:16532398 More... NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		JBrowse link
ectodermal dysplasia and immunodeficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAZ1A bromodomain adjacent to zinc finger domain 1A ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 7:64,969,626...65,069,969
Ensembl chr 7:64,969,640...65,069,889 		JBrowse link
G CFL2 cofilin 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 7:65,090,170...65,094,521
Ensembl chr 7:65,090,276...65,094,512 		JBrowse link
G FAM177A1 family with sequence similarity 177 member A1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 7:64,788,829...64,808,640
Ensembl chr 7:64,788,077...64,808,473 		JBrowse link
G NFKBIA NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 | ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:14523047 PMID:15337789 PMID:17576681 PMID:17931563 More... NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277 		JBrowse link
G PPP2R3C protein phosphatase 2 regulatory subunit B''gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 7:64,762,863...64,789,919
Ensembl chr 7:64,763,050...64,789,921 		JBrowse link
G PRORP protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 7:64,620,514...64,763,272
Ensembl chr 7:64,620,517...64,762,428 		JBrowse link
G PSMA6 proteasome 20S subunit alpha 6 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 7:64,578,247...64,603,351
Ensembl chr 7:64,578,243...64,616,491 		JBrowse link
G SRP54 signal recognition particle 54 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 7:64,829,625...64,877,574
Ensembl chr 7:64,829,228...64,877,195 		JBrowse link
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RHOA ras homolog family member A ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES, SOMATIC MOSAIC | ClinVar Annotator: match by term: Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31570889 PMID:31821646 NCBI chr13:31,918,484...31,991,207
Ensembl chr13:31,918,834...31,986,607 		JBrowse link
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH3 cadherin 3 ISO ClinVar Annotator: match by term: CDH3-related condition | ClinVar Annotator: match by term: EEM syndrome OMIM
ClinVar		 PMID:9536098 PMID:10420194 PMID:13372143 PMID:14708629 PMID:15805154 More... NCBI chr 6:18,190,971...18,236,184
Ensembl chr 6:18,191,664...18,235,862 		JBrowse link
Ectodermal Dysplasia-Skin Fragility Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin ISO ClinVar Annotator: match by term: Mcgrath syndrome ClinVar PMID:18632414 PMID:21636032 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623 		JBrowse link
G PKP1 plakophilin 1 ISO ClinVar Annotator: match by term: Mcgrath syndrome OMIM
ClinVar		 PMID:9326952 PMID:10951270 PMID:11994137 PMID:16781314 PMID:24073657 More... NCBI chr10:23,689,394...23,735,457
Ensembl chr10:23,689,380...23,735,453 		JBrowse link
Ectodermal Dysplasia-Syndactyly Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NECTIN4 nectin cell adhesion molecule 4 ISO ClinVar Annotator: match by term: Ectodermal dysplasia-syndactyly syndrome 1 OMIM
ClinVar		 PMID:20691405 PMID:21346770 PMID:24577405 PMID:25529316 PMID:25741868 More... NCBI chr 4:89,356,935...89,374,358
Ensembl chr 4:89,355,407...89,374,358 		JBrowse link
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRHL2 grainyhead like transcription factor 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia/short stature syndrome OMIM
ClinVar		 PMID:24033266 PMID:25152456 PMID:25741868 PMID:28492532 NCBI chr 4:35,368,788...35,565,394
Ensembl chr 4:35,371,136...35,564,919 		JBrowse link
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 OMIM
ClinVar		 PMID:8737655 PMID:9028452 PMID:9443880 PMID:9536098 PMID:10535733 More... NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,105...127,347,068 		JBrowse link
EEC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome ClinVar PMID:8737655 PMID:9443880 PMID:9536098 PMID:10535733 PMID:10839977 More... NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,105...127,347,068 		JBrowse link
Ehlers-Danlos syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 susceptibility ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome RGD
ClinVar		 PMID:10417273 PMID:22863189 PMID:25741868 PMID:28346524 PMID:28492532 More... RGD:1598739 NCBI chr 2:79,182,901...79,406,879
Ensembl chr 2:79,182,943...79,406,875 		JBrowse link
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:10570920 PMID:11241493 PMID:18414213 PMID:20045993 PMID:23281160 More... NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,991...62,110,048 		JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 susceptibility ISO DNA:transition:exon;808C>T
ClinVar Annotator: match by term: Ehlers-Danlos syndrome		 RGD
ClinVar		 PMID:10473568 PMID:25741868 PMID:28492532 PMID:31278392 PMID:31614862 RGD:1599433 NCBI chr 2:80,349,732...80,359,878
Ensembl chr 2:80,346,307...80,359,973 		JBrowse link
G C1R complement C1r ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar NCBI chr 5:63,644,097...63,655,149
Ensembl chr 5:63,643,374...63,655,143 		JBrowse link
G CHST14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25188385 PMID:25741868 PMID:28492532 PMID:32214361 NCBI chr 1:130,845,103...130,847,203
Ensembl chr 1:130,845,835...130,846,965 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:2238087 PMID:7691343 PMID:7695699 PMID:8079666 PMID:8218237 More... NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:1577745 PMID:1634225 PMID:1712342 PMID:1990839 PMID:2993307 More... NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397 		JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:2049575 PMID:2235526 PMID:8514866 PMID:9036918 PMID:9399899 More... NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363 		JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:10471441 PMID:10602121 PMID:10777716 PMID:10946364 PMID:11992482 More... NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,111 		JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:2855059 PMID:9536098 PMID:11940702 PMID:17576681 PMID:25741868 More... NCBI chr15:93,611,856...93,981,131
Ensembl chr15:93,611,856...93,800,191 		JBrowse link
G CYP21A1 cytochrome P450 family 21 subfamily A member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 NCBI chr 7:24,086,138...24,089,364
Ensembl chr 7:24,086,218...24,089,370 		JBrowse link
G DCN decorin ISO OMIM:225400 MouseDO NCBI chr 5:91,678,601...91,713,925
Ensembl chr 5:91,682,658...91,714,235 		JBrowse link
G DSE dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:81,996,894...82,063,847
Ensembl chr 1:81,934,679...82,062,982 		JBrowse link
G FBN2 fibrillin 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:16835936 PMID:17345643 PMID:17935258 PMID:18414213 PMID:19006240 More... NCBI chr 2:131,150,665...131,370,241
Ensembl chr 2:131,152,127...131,370,881 		JBrowse link
G FKBP14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31428121 PMID:33587123 NCBI chr18:42,903,100...42,913,609
Ensembl chr18:42,903,100...42,913,609 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G LOX lysyl oxidase ISO RGD PMID:8638917 RGD:1581895 NCBI chr 2:125,595,115...125,607,026
Ensembl chr 2:125,591,789...125,607,594 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:9220536 PMID:9536098 PMID:9893157 PMID:10329027 PMID:10686424 More... NCBI chr 6:71,987,938...72,019,712
Ensembl chr 6:71,988,459...72,021,804 		JBrowse link
G PRDM5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:21664999 PMID:25741868 PMID:26395458 PMID:28492532 PMID:33739556 More... NCBI chr 8:103,188,312...103,383,955
Ensembl chr 8:103,189,561...103,382,094 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:15,194,028...15,202,936
Ensembl chr 2:15,194,017...15,210,425 		JBrowse link
G SMAD3 SMAD family member 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:15350224 PMID:21217753 PMID:22167769 PMID:23554019 PMID:24033266 More... NCBI chr 1:164,998,457...165,124,455
Ensembl chr 1:164,998,103...165,124,449 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO protein:increased expression:plasma: RGD PMID:24399159 RGD:11073604 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046 		JBrowse link
G TGFB2 transforming growth factor beta 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:22772371 PMID:24465802 PMID:25741868 PMID:26017485 PMID:28139901 More... NCBI chr10:8,306,136...8,435,307
Ensembl chr10:8,305,539...8,390,341 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:2511639 PMID:16928994 PMID:18781618 PMID:20332227 PMID:21358634 More... NCBI chr 1:240,842,735...240,918,267
Ensembl chr 1:240,860,156...240,918,528 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:8246946 PMID:9395234 PMID:9590282 PMID:11212236 PMID:16791849 More... NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,490...16,878,160 		JBrowse link
G THBS2 thrombospondin 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:25741868 PMID:38433265 NCBI chr 1:854,473...882,467
Ensembl chr 1:855,389...882,473 		JBrowse link
G TNXB tenascin XB ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:11642233 PMID:15733269 PMID:20649799 PMID:20853426 PMID:23555315 More... NCBI chr 7:24,088,873...24,155,815
Ensembl chr 7:24,088,873...24,150,596 		JBrowse link
G ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome ClinVar PMID:23642083 PMID:23680354 PMID:24082139 PMID:24895405 PMID:25097247 More... NCBI chr 6:1,161,514...1,208,406
Ensembl chr 6:1,162,822...1,174,257 		JBrowse link
Ehlers-Danlos syndrome arthrochalasia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Arthrochalasis multiplex congenita | ClinVar Annotator: match by term: EDS VII, MUTANT PROCOLLAGEN TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 OMIM
ClinVar		 PMID:2037280 PMID:2542316 PMID:7691343 PMID:7695699 PMID:7942841 More... NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Arthrochalasis multiplex congenita | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7A
ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1		 ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 More... NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397 		JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A
ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1		 ClinVar PMID:9536098 PMID:10471441 PMID:10602121 PMID:10946364 PMID:11992482 More... NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,111 		JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A
ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1		 ClinVar PMID:9536098 PMID:17576681 PMID:25326637 PMID:25741868 PMID:28087566 More... NCBI chr15:93,611,856...93,981,131
Ensembl chr15:93,611,856...93,800,191 		JBrowse link
Ehlers-Danlos syndrome arthrochalasia type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2 ClinVar PMID:7942841 PMID:9295084 PMID:9443882 PMID:18311573 PMID:21667357 More... NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2 OMIM
ClinVar		 PMID:1556139 PMID:1577745 PMID:1712342 PMID:1978725 PMID:1990839 More... NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397 		JBrowse link
Ehlers-Danlos syndrome cardiac valvular type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type ClinVar PMID:2404284 PMID:8347685 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,721,696 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, cardiac valvular type		 ClinVar PMID:1867198 PMID:2037280 PMID:2542316 PMID:2767050 PMID:3082886 More... NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, cardiac valvular type OMIM
ClinVar		 PMID:3049731 PMID:3383844 PMID:7695699 PMID:7860070 PMID:8094076 More... NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397 		JBrowse link
Ehlers-Danlos syndrome classic type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,912,239...272,935,316 JBrowse link
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:273,022,014...273,066,916
Ensembl chr 1:273,024,009...273,056,039 		JBrowse link
G ADAMTSL2 ADAMTS like 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:273,119,826...273,155,412
Ensembl chr 1:273,119,904...273,155,409 		JBrowse link
G AEBP1 AE binding protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:25741868 PMID:30759870 NCBI chr18:51,046,895...51,056,789
Ensembl chr18:51,046,899...51,056,698 		JBrowse link
G AK8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,497,661...272,625,668
Ensembl chr 1:272,497,662...272,625,660 		JBrowse link
G BARHL1 BarH like homeobox 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,373,125...272,380,223
Ensembl chr 1:272,373,402...272,381,224 		JBrowse link
G CACFD1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:273,045,620...273,066,916
Ensembl chr 1:273,056,532...273,066,914 		JBrowse link
G CAMSAP1 calmodulin regulated spectrin associated protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G CARD9 caspase recruitment domain family member 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G CASD1 CAS1 domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:74,276,533...74,347,608
Ensembl chr 9:74,276,908...74,347,588 		JBrowse link
G CEL carboxyl ester lipase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,763,203...272,770,259
Ensembl chr 1:272,763,003...272,770,255 		JBrowse link
G CFAP77 cilia and flagella associated protein 77 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,216,581...272,362,321
Ensembl chr 1:272,217,072...272,361,733 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1		 ClinVar PMID:10739762 PMID:16786509 PMID:17211858 PMID:23587214 PMID:25597651 More... NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1		 ClinVar PMID:458828 PMID:1978725 PMID:1990009 PMID:2010058 PMID:2052622 More... NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397 		JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:20648054 PMID:22696272 PMID:23587214 PMID:24922459 PMID:28492532 NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363 		JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1		 OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:8575750 PMID:8923000 PMID:8950675 More... NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,111 		JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1		 ClinVar PMID:2855059 PMID:7695699 PMID:8218237 PMID:9425231 PMID:9536098 More... NCBI chr15:93,611,856...93,981,131
Ensembl chr15:93,611,856...93,800,191 		JBrowse link
G DBH dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:273,204,407...273,225,562
Ensembl chr 1:273,204,175...273,225,552 		JBrowse link
G DDX31 DEAD-box helicase 31 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,383,585...272,454,395
Ensembl chr 1:272,383,595...272,453,979 		JBrowse link
G DNLZ DNL-type zinc finger ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G ENTR1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G FAM163B family with sequence similarity 163 member B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:273,156,749...273,186,756
Ensembl chr 1:273,156,751...273,186,756 		JBrowse link
G FCN2 ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 1:274,106,276...274,111,970
Ensembl chr 1:274,103,877...274,111,970 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,827,930...272,836,460
Ensembl chr 1:272,827,934...272,836,449 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,701,386...272,715,551
Ensembl chr 1:272,702,184...272,715,539 		JBrowse link
G GLT6D1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G GPSM1 G protein signaling modulator 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G GTF3C4 general transcription factor IIIC subunit 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,454,488...272,479,968
Ensembl chr 1:272,454,503...272,479,952 		JBrowse link
G GTF3C5 general transcription factor IIIC subunit 5 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,743,527...272,760,055 JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G KCNT1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G LCN9 lipocalin 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 ClinVar PMID:28492532 PMID:29907982
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G LUM lumican ISO OMIM:130000 MouseDO NCBI chr 5:91,748,871...91,756,381
Ensembl chr 5:91,748,885...91,757,598 		JBrowse link
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr  X:57,150,884...57,174,367
Ensembl chr  X:57,150,919...57,175,333 		JBrowse link
G MED22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,956,119...272,961,618
Ensembl chr 1:272,955,473...272,961,596 		JBrowse link
G MED27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:271,724,910...271,928,367
Ensembl chr 1:271,724,910...271,928,367 		JBrowse link
G MRPS2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 ClinVar PMID:28492532 PMID:29907982
G MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:7,002,667...7,143,093
Ensembl chr 3:7,002,735...7,143,095 		JBrowse link
G MYMK myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:273,101,674...273,111,721
Ensembl chr 1:273,101,678...273,111,727 		JBrowse link
G NACC2 NACC family member 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G NTNG2 netrin G2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,007,513...272,077,105
Ensembl chr 1:272,012,112...272,077,018 		JBrowse link
G OBP2B odorant binding protein 2B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 1:272,886,871...272,890,537 JBrowse link
G OLFM1 olfactomedin 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982 NCBI chr 1:274,236,241...274,261,322
Ensembl chr 1:274,224,454...274,261,328 		JBrowse link
G PAEP progestagen associated endometrial protein ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G PIERCE1 piercer of microtubule wall 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G PMPCA peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:271,432,196...271,448,584
Ensembl chr 1:271,432,210...271,452,461 		JBrowse link
G PPP1R26 protein phosphatase 1 regulatory subunit 26 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G QSOX2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G RALGDS ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 NCBI chr 1:272,776,844...272,824,179
Ensembl chr 1:272,776,846...272,824,184 		JBrowse link
G RAPGEF1 Rap guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:271,494,243...271,624,609
Ensembl chr 1:271,494,248...271,600,920 		JBrowse link
G REXO4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:273,011,736...273,021,956
Ensembl chr 1:273,011,734...273,021,938 		JBrowse link
G RPL7A ribosomal protein L7a ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,961,421...272,965,636
Ensembl chr 1:272,959,831...272,965,634 		JBrowse link
G RXRA retinoid X receptor alpha ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:273,698,842...273,797,622
Ensembl chr 1:273,705,505...273,797,620 		JBrowse link
G SARDH sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:273,230,357...273,295,170
Ensembl chr 1:273,230,375...273,294,621 		JBrowse link
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G SETX senataxin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,747 		JBrowse link
G SGCE sarcoglycan epsilon ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 9:74,402,714...74,473,904
Ensembl chr 9:74,402,717...74,473,910 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr17:48,824,054...48,842,811
Ensembl chr17:48,824,414...48,843,201 		JBrowse link
G SLC2A6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:273,063,261...273,075,455
Ensembl chr 1:273,063,270...273,075,391 		JBrowse link
G SLC40A1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:20648054 PMID:23587214 PMID:28492532 NCBI chr15:94,140,635...94,161,793
Ensembl chr15:94,141,988...94,167,408 		JBrowse link
G SNAPC4 small nuclear RNA activating complex polypeptide 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G SPACA9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,625,701...272,635,406
Ensembl chr 1:272,625,712...272,636,346 		JBrowse link
G STKLD1 serine/threonine kinase like domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,988,767...273,012,007
Ensembl chr 1:272,995,842...273,011,443 		JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,965,637...272,970,516
Ensembl chr 1:272,965,643...272,970,483 		JBrowse link
G SURF2 surfeit 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,970,522...272,976,188
Ensembl chr 1:272,970,548...272,975,293 		JBrowse link
G SURF4 surfeit 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,975,164...272,988,683
Ensembl chr 1:272,975,160...272,988,688 		JBrowse link
G SURF6 surfeit 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,949,236...272,955,674
Ensembl chr 1:272,949,247...272,955,197 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:30675029 NCBI chr 1:240,842,735...240,918,267
Ensembl chr 1:240,860,156...240,918,528 		JBrowse link
G TMEM250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G TSC1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,636,530...272,685,948
Ensembl chr 1:272,636,532...272,685,951 		JBrowse link
G TTF1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:272,180,488...272,212,504
Ensembl chr 1:272,180,498...272,212,478 		JBrowse link
G UBAC1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 ClinVar PMID:28492532 PMID:29907982
G UCK1 uridine-cytidine kinase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:271,448,362...271,453,811
Ensembl chr 1:271,448,365...271,453,816 		JBrowse link
G VAV2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:273,303,142...273,476,250
Ensembl chr 1:273,303,144...273,476,207 		JBrowse link
G WDR5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:28492532 NCBI chr 1:273,560,274...273,577,827
Ensembl chr 1:273,560,283...273,578,063 		JBrowse link
G WDR75 WD repeat domain 75 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type ClinVar PMID:20648054 PMID:23587214 PMID:28492532 NCBI chr15:93,981,054...94,026,479
Ensembl chr15:93,981,215...94,026,707 		JBrowse link
Ehlers-Danlos syndrome classic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: EDS II | ClinVar Annotator: match by term: EHLERS DANLOS SYNDROME, MITIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE II ClinVar PMID:458828 PMID:1978725 PMID:2010058 PMID:2824475 PMID:2985635 More... NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397 		JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 ClinVar PMID:15580559 PMID:22696272 PMID:25741868 PMID:28492532 PMID:32720758 More... NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,111 		JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: COL5A2-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 OMIM
ClinVar		 PMID:2855059 PMID:9536098 PMID:11940702 PMID:16199547 PMID:17576681 More... NCBI chr15:93,611,856...93,981,131
Ensembl chr15:93,611,856...93,800,191 		JBrowse link
Ehlers-Danlos syndrome classic-like 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP21A1 cytochrome P450 family 21 subfamily A member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome due to tenascin-X deficiency ClinVar PMID:25741868 NCBI chr 7:24,086,138...24,089,364
Ensembl chr 7:24,086,218...24,089,370 		JBrowse link
G TNXB tenascin XB ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome due to tenascin-X deficiency ClinVar PMID:11642233 PMID:11925569 PMID:12865992 PMID:15733269 PMID:20649799 More... NCBI chr 7:24,088,873...24,155,815
Ensembl chr 7:24,088,873...24,150,596 		JBrowse link
Ehlers-Danlos syndrome classic-like 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AEBP1 AE binding protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic-like, 2 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:27023906 PMID:28492532 PMID:29606302 More... NCBI chr18:51,046,895...51,056,789
Ensembl chr18:51,046,899...51,056,698 		JBrowse link
Ehlers-Danlos syndrome dermatosparaxis type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type OMIM
ClinVar		 PMID:1642226 PMID:7735500 PMID:8215497 PMID:8986271 PMID:9536098 More... NCBI chr 2:79,182,901...79,406,879
Ensembl chr 2:79,182,943...79,406,875 		JBrowse link
G ARL10 ADP ribosylation factor like GTPase 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,496,823...81,506,344
Ensembl chr 2:81,496,825...81,506,329 		JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,349,732...80,359,878
Ensembl chr 2:80,346,307...80,359,973 		JBrowse link
G CANX calnexin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:78,879,031...78,915,828
Ensembl chr 2:78,879,033...78,915,827 		JBrowse link
G CBY3 chibby family member 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:78,933,852...78,936,011 JBrowse link
G CDHR2 cadherin related family member 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,319,179...81,361,598
Ensembl chr 2:81,318,407...81,361,606 		JBrowse link
G CLK4 CDC like kinase 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:79,729,460...79,752,945
Ensembl chr 2:79,693,669...79,753,712 		JBrowse link
G CLTB clathrin light chain B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,488,191...81,498,623
Ensembl chr 2:81,488,092...81,495,014 		JBrowse link
G CLTB clathrin light chain B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,464,887...81,484,712
Ensembl chr 2:81,464,917...81,485,419 		JBrowse link
G COL23A1 collagen type XXIII alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:79,766,260...80,141,296
Ensembl chr 2:79,766,150...80,141,293 		JBrowse link
G CPLX2 complexin 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,732,527...81,813,189
Ensembl chr 2:81,732,533...81,813,271 		JBrowse link
G DBN1 drebrin 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,480,603...80,495,797
Ensembl chr 2:80,479,460...80,495,796 		JBrowse link
G DDX41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,440,774...80,445,484
Ensembl chr 2:80,439,247...80,445,482 		JBrowse link
G DDX41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,433,065...80,445,484
Ensembl chr 2:80,433,190...80,438,867 		JBrowse link
G EIF4E1B eukaryotic translation initiation factor 4E family member 1B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,277,086...81,281,668
Ensembl chr 2:81,277,952...81,281,453 		JBrowse link
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,527,451...80,544,835
Ensembl chr 2:80,527,446...80,544,828 		JBrowse link
G FAF2 Fas associated factor family member 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,401,852...81,454,272
Ensembl chr 2:81,401,859...81,454,262 		JBrowse link
G FAM193B family with sequence similarity 193 member B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,396,371...80,430,074
Ensembl chr 2:80,396,371...80,430,071 		JBrowse link
G FGFR4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,841,536...80,853,791
Ensembl chr 2:80,841,536...80,853,796 		JBrowse link
G GPRIN1 G protein regulated inducer of neurite outgrowth 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,307,732...81,319,183
Ensembl chr 2:81,315,368...81,318,382 		JBrowse link
G GRK6 G protein-coupled receptor kinase 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,496,105...80,527,208
Ensembl chr 2:80,508,979...80,527,210 		JBrowse link
G GRM6 glutamate metabotropic receptor 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:79,466,899...79,480,562
Ensembl chr 2:79,466,779...79,479,146 		JBrowse link
G HIGD2A HIG1 hypoxia inducible domain family member 2A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,486,890...81,488,039
Ensembl chr 2:81,486,890...81,488,045 		JBrowse link
G HK3 hexokinase 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,042,401...81,060,832
Ensembl chr 2:81,042,755...81,060,826 		JBrowse link
G HNRNPAB heterogeneous nuclear ribonucleoprotein A/B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,186,998...80,194,155 JBrowse link
G HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:78,961,456...78,971,799
Ensembl chr 2:78,963,309...78,969,949 		JBrowse link
G KIAA1191 KIAA1191 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,506,407...81,539,624
Ensembl chr 2:81,520,408...81,539,624 		JBrowse link
G LMAN2 lectin, mannose binding 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,595,064...80,636,168
Ensembl chr 2:80,595,334...80,609,594 		JBrowse link
G LOC100620238 zinc finger protein 454 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:79,491,750...79,549,974
Ensembl chr 2:79,512,767...79,549,925
Ensembl chr 2:79,512,767...79,549,925 		JBrowse link
G LTC4S leukotriene C4 synthase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:78,799,446...78,802,281
Ensembl chr 2:78,799,449...78,802,285 		JBrowse link
G MAML1 mastermind like transcriptional coactivator 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:78,818,658...78,876,633
Ensembl chr 2:78,818,411...78,876,615 		JBrowse link
G MGAT4B alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:78,783,775...78,798,425
Ensembl chr 2:78,783,785...78,798,423 		JBrowse link
G MXD3 MAX dimerization protein 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,636,778...80,641,346
Ensembl chr 2:80,637,323...80,641,950 		JBrowse link
G N4BP3 NEDD4 binding protein 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,251,234...80,263,905
Ensembl chr 2:80,251,238...80,263,918 		JBrowse link
G NHP2 NHP2 ribonucleoprotein ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,223,439...80,227,614 JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,649,882...80,810,934
Ensembl chr 2:80,654,379...80,809,059 		JBrowse link
G PDLIM7 PDZ and LIM domain 7 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,453,013...80,472,660
Ensembl chr 2:80,452,706...80,472,658 		JBrowse link
G PFN3 profilin 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,545,495...80,546,524
Ensembl chr 2:80,546,048...80,546,497 		JBrowse link
G PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,142,273...80,188,753
Ensembl chr 2:80,142,033...80,191,957 		JBrowse link
G PRELID1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,641,844...80,646,390
Ensembl chr 2:80,641,845...80,653,670 		JBrowse link
G PROP1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:79,627,466...79,631,270
Ensembl chr 2:79,627,603...79,631,270 		JBrowse link
G PRR7 proline rich 7, synaptic ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,496,105...80,508,825
Ensembl chr 2:80,496,106...80,505,430 		JBrowse link
G RAB24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,646,426...80,651,498 JBrowse link
G RGS14 regulator of G protein signaling 14 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,574,411...80,589,998
Ensembl chr 2:80,574,415...80,590,003 		JBrowse link
G RMND5B required for meiotic nuclear division 5 homolog B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,226,047...80,247,358
Ensembl chr 2:80,225,496...80,246,945 		JBrowse link
G RNF44 ring finger protein 44 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,372,427...81,390,232
Ensembl chr 2:81,378,725...81,390,230 		JBrowse link
G RUFY1 RUN and FYVE domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:78,974,361...79,021,677
Ensembl chr 2:78,963,989...79,021,574 		JBrowse link
G SIMC1 SUMO interacting motifs containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,539,713...81,613,705
Ensembl chr 2:81,539,712...81,613,703 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,548,208...80,563,380
Ensembl chr 2:80,548,232...80,563,321 		JBrowse link
G SNCB synuclein beta ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,287,764...81,302,859
Ensembl chr 2:81,287,759...81,302,861 		JBrowse link
G SQSTM1 sequestosome 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:78,752,768...78,763,998
Ensembl chr 2:78,752,771...78,763,938 		JBrowse link
G THOC3 THO complex subunit 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,658,736...81,670,996
Ensembl chr 2:81,658,788...81,670,127 		JBrowse link
G TMED9 transmembrane p24 trafficking protein 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,364,532...80,368,434
Ensembl chr 2:80,364,769...80,368,589 		JBrowse link
G TSPAN17 tetraspanin 17 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,256,989...81,276,638
Ensembl chr 2:81,260,281...81,276,636 		JBrowse link
G UIMC1 ubiquitin interaction motif containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,895,631...81,040,712
Ensembl chr 2:80,929,267...81,036,448 		JBrowse link
G UNC5A unc-5 netrin receptor A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:81,061,096...81,126,191
Ensembl chr 2:81,060,803...81,126,196 		JBrowse link
G ZNF346 zinc finger protein 346 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:80,871,576...80,895,592
Ensembl chr 2:80,871,595...80,895,585 		JBrowse link
G ZNF354A zinc finger protein 354A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:79,670,436...79,690,546
Ensembl chr 2:79,670,479...79,690,537 		JBrowse link
G ZNF354B zinc finger protein 354B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type ClinVar PMID:16770806 PMID:17090394 PMID:21567906 PMID:23599694 PMID:23913520 More... NCBI chr 2:79,579,737...79,602,080
Ensembl chr 2:79,579,753...79,601,137 		JBrowse link
Ehlers-Danlos syndrome hypermobility type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos Syndrome, Hypermobility Type ClinVar PMID:25741868 PMID:25758994 PMID:26854089 PMID:28087566 PMID:28492532 More... NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363 		JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 ClinVar PMID:28492532
G TNXB tenascin XB ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 3 ClinVar PMID:25326637 PMID:25741868 NCBI chr 7:24,088,873...24,155,815
Ensembl chr 7:24,088,873...24,150,596 		JBrowse link
Ehlers-Danlos syndrome kyphoscoliotic type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 6:71,881,912...71,915,016
Ensembl chr 6:71,881,972...71,916,029 		JBrowse link
G KIAA2013 KIAA2013 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 6:71,976,011...71,981,674
Ensembl chr 6:71,976,019...71,981,673 		JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,028,499...72,056,438 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		JBrowse link
G NPPA natriuretic peptide A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 6:71,919,557...71,921,345
Ensembl chr 6:71,918,845...71,921,405 		JBrowse link
G NPPB natriuretic peptide B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 ClinVar PMID:28492532 NCBI chr 6:71,930,374...71,931,843
Ensembl chr 6:71,930,382...71,932,254 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1 | ClinVar Annotator: match by term: Nevo syndrome OMIM
ClinVar		 PMID:222849 PMID:416188 PMID:1345174 PMID:3110540 PMID:3931636 More... NCBI chr 6:71,987,938...72,019,712
Ensembl chr 6:71,988,459...72,021,804 		JBrowse link
Ehlers-Danlos syndrome kyphoscoliotic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP1 aquaporin 1 (Colton blood group) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr18:42,063,482...42,076,741
Ensembl chr18:42,063,485...42,076,746 		JBrowse link
G CRHR2 corticotropin releasing hormone receptor 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr18:42,251,755...42,296,457
Ensembl chr18:42,251,749...42,295,467 		JBrowse link
G FKBP14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22265013 PMID:24677762 More... NCBI chr18:42,903,100...42,913,609
Ensembl chr18:42,903,100...42,913,609 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr18:42,311,711...42,352,201
Ensembl chr18:42,311,576...42,352,162 		JBrowse link
G GGCT gamma-glutamylcyclotransferase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr18:42,410,734...42,418,534
Ensembl chr18:42,410,792...42,418,980 		JBrowse link
G GHRHR growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr18:42,030,505...42,046,178
Ensembl chr18:42,030,510...42,046,184 		JBrowse link
G INMT indolethylamine N-methyltransferase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr18:42,213,335...42,218,175
Ensembl chr18:42,209,352...42,218,174 		JBrowse link
G MINDY4 MINDY lysine 48 deubiquitinase 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr18:42,096,351...42,202,511
Ensembl chr18:42,096,353...42,200,694 		JBrowse link
G MTURN maturin, neural progenitor differentiation regulator homolog ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr18:42,767,452...42,802,109
Ensembl chr18:42,771,454...42,802,093 		JBrowse link
G NOD1 nucleotide binding oligomerization domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr18:42,464,667...42,509,135
Ensembl chr18:42,432,050...42,512,264 		JBrowse link
G PLEKHA8 pleckstrin homology domain containing A8 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr18:42,841,085...42,901,203
Ensembl chr18:42,820,921...42,902,867 		JBrowse link
G ZNRF2 zinc and ring finger 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr18:42,550,571...42,651,914
Ensembl chr18:42,549,846...42,651,807 		JBrowse link
Ehlers-Danlos syndrome musculocontractural type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHST14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS | ClinVar Annotator: match by term: Adducted Thumb-Clubfoot Syndrome | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 1 OMIM
ClinVar		 PMID:1184396 PMID:2202212 PMID:9084938 PMID:10766984 PMID:11370633 More... NCBI chr 1:130,845,103...130,847,203
Ensembl chr 1:130,845,835...130,846,965 		JBrowse link
Ehlers-Danlos syndrome musculocontractural type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSE dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2 OMIM
ClinVar		 PMID:23704329 PMID:25703627 PMID:25741868 PMID:28492532 NCBI chr 1:81,996,894...82,063,847
Ensembl chr 1:81,934,679...82,062,982 		JBrowse link
Ehlers-Danlos syndrome periodontal type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1R complement C1r ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 OMIM
ClinVar		 PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:25741868 More... NCBI chr 5:63,644,097...63,655,149
Ensembl chr 5:63,643,374...63,655,143 		JBrowse link
G C1RL complement C1r subcomponent like ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 ClinVar PMID:25741868 PMID:27745832 NCBI chr 5:63,623,398...63,640,065
Ensembl chr 5:63,627,313...63,640,057 		JBrowse link
G C1S complement C1s ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 ClinVar PMID:27745832 NCBI chr 5:63,670,309...63,681,466
Ensembl chr 5:63,670,312...63,708,214 		JBrowse link
Ehlers-Danlos syndrome periodontal type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1R complement C1r ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 ClinVar PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:25741868 More... NCBI chr 5:63,644,097...63,655,149
Ensembl chr 5:63,643,374...63,655,143 		JBrowse link
G C1RL complement C1r subcomponent like ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 ClinVar PMID:25741868 PMID:27745832 NCBI chr 5:63,623,398...63,640,065
Ensembl chr 5:63,627,313...63,640,057 		JBrowse link
G C1S complement C1s ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 OMIM
ClinVar		 PMID:25741868 PMID:27745832 PMID:28492532 NCBI chr 5:63,670,309...63,681,466
Ensembl chr 5:63,670,312...63,708,214 		JBrowse link
Ehlers-Danlos syndrome spondylodysplastic type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT6 beta-1,3-galactosyltransferase 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:63,540,066...63,541,962
Ensembl chr 6:63,540,141...63,541,112 		JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 1 OMIM
ClinVar		 PMID:1221956 PMID:1640425 PMID:9536098 PMID:15211654 PMID:17576681 More... NCBI chr 2:80,349,732...80,359,878
Ensembl chr 2:80,346,307...80,359,973 		JBrowse link
Ehlers-Danlos syndrome spondylodysplastic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,579,291...63,593,429
Ensembl chr 6:63,579,304...63,593,435 		JBrowse link
G ACTRT2 actin related protein T2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,664,484...64,665,774
Ensembl chr 6:64,664,641...64,665,774 		JBrowse link
G AGRN agrin ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,366,017...63,398,311
Ensembl chr 6:63,365,983...63,398,309 		JBrowse link
G ANKRD65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,678,757...63,686,409 JBrowse link
G ARHGEF16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,026,490...65,048,545
Ensembl chr 6:65,027,442...65,048,542 		JBrowse link
G AURKAIP1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,656,120...63,657,568
Ensembl chr 6:63,656,119...63,657,472 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 OMIM
ClinVar		 PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:23664117 More... NCBI chr 6:63,540,066...63,541,962
Ensembl chr 6:63,540,141...63,541,112 		JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type
ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2		 ClinVar PMID:1221956 PMID:1640425 PMID:3631078 PMID:9536098 PMID:10473568 More... NCBI chr 2:80,349,732...80,359,878
Ensembl chr 2:80,346,307...80,359,973 		JBrowse link
G C1QTNF12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,548,862...63,555,991
Ensembl chr 6:63,548,864...63,553,332 		JBrowse link
G CALML6 calmodulin like 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,970,359...63,971,973 JBrowse link
G CCDC27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,242,725...65,254,879
Ensembl chr 6:65,242,602...65,255,727 		JBrowse link
G CCNL2 cyclin L2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,659,053...63,668,077
Ensembl chr 6:63,659,054...63,668,047 		JBrowse link
G CDK11 cyclin dependent kinase 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,804,914...63,819,960 JBrowse link
G CEP104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,274,092...65,310,735
Ensembl chr 6:65,274,488...65,310,669 		JBrowse link
G CFAP74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,976,011...64,038,899
Ensembl chr 6:63,976,346...64,024,562 		JBrowse link
G CLK4 CDC like kinase 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:79,729,460...79,752,945
Ensembl chr 2:79,693,669...79,753,712 		JBrowse link
G COL23A1 collagen type XXIII alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:79,766,260...80,141,296
Ensembl chr 2:79,766,150...80,141,293 		JBrowse link
G CPTP ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,607,991...63,612,325 JBrowse link
G DBN1 drebrin 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,480,603...80,495,797
Ensembl chr 2:80,479,460...80,495,796 		JBrowse link
G DDX41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,440,774...80,445,484
Ensembl chr 2:80,439,247...80,445,482 		JBrowse link
G DDX41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,433,065...80,445,484
Ensembl chr 2:80,433,190...80,438,867 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,617,787...63,628,965
Ensembl chr 6:63,617,789...63,628,913 		JBrowse link
G EIF4E1B eukaryotic translation initiation factor 4E family member 1B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:81,277,086...81,281,668
Ensembl chr 2:81,277,952...81,281,453 		JBrowse link
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,527,451...80,544,835
Ensembl chr 2:80,527,446...80,544,828 		JBrowse link
G FAAP20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,160,760...64,169,663 JBrowse link
G FAM193B family with sequence similarity 193 member B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,396,371...80,430,074
Ensembl chr 2:80,396,371...80,430,071 		JBrowse link
G FGFR4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,841,536...80,853,791
Ensembl chr 2:80,841,536...80,853,796 		JBrowse link
G FNDC10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,762,059...63,765,483
Ensembl chr 6:63,764,815...63,765,483 		JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,049,665...64,059,644
Ensembl chr 6:64,049,675...64,059,640 		JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,867,155...63,957,514
Ensembl chr 6:63,867,158...63,952,505 		JBrowse link
G GRK6 G protein-coupled receptor kinase 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,496,105...80,527,208
Ensembl chr 2:80,508,979...80,527,210 		JBrowse link
G GRM6 glutamate metabotropic receptor 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:79,466,899...79,480,562
Ensembl chr 2:79,466,779...79,479,146 		JBrowse link
G HES4 hes family bHLH transcription factor 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,351,593...63,356,690
Ensembl chr 6:63,351,602...63,356,466 		JBrowse link
G HES5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,409,110...64,410,541
Ensembl chr 6:64,408,956...64,410,881 		JBrowse link
G HK3 hexokinase 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:81,042,401...81,060,832
Ensembl chr 2:81,042,755...81,060,826 		JBrowse link
G HNRNPAB heterogeneous nuclear ribonucleoprotein A/B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,186,998...80,194,155 JBrowse link
G INTS11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,596,809...63,607,915
Ensembl chr 6:63,596,803...63,607,921 		JBrowse link
G ISG15 ISG15 ubiquitin like modifier ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,363,201...63,364,211
Ensembl chr 6:63,363,173...63,364,208 		JBrowse link
G KLHL17 kelch like family member 17 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,320,898...63,328,093
Ensembl chr 6:63,322,184...63,328,259 		JBrowse link
G LMAN2 lectin, mannose binding 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,595,064...80,636,168
Ensembl chr 2:80,595,334...80,609,594 		JBrowse link
G LOC100525876 ATPase family AAA domain-containing protein 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,706,155...63,721,574
Ensembl chr 6:63,701,460...63,721,573 		JBrowse link
G LOC100620238 zinc finger protein 454 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:79,491,750...79,549,974
Ensembl chr 2:79,512,767...79,549,925
Ensembl chr 2:79,512,767...79,549,925 		JBrowse link
G LOC100624218 MORN repeat-containing protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,266,184...64,300,980
Ensembl chr 6:64,253,268...64,300,897 		JBrowse link
G LRRC47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,261,990...65,271,745
Ensembl chr 6:65,260,793...65,271,729 		JBrowse link
G MEGF6 multiple EGF like domains 6 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,055,533...65,141,449
Ensembl chr 6:65,053,389...65,141,380 		JBrowse link
G MIB2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,787,200...63,800,425
Ensembl chr 6:63,787,201...63,800,423 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,436,778...64,470,888
Ensembl chr 6:64,436,642...64,472,759 		JBrowse link
G MMP23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,801,668...63,804,275
Ensembl chr 6:63,801,965...63,805,046 		JBrowse link
G MRPL20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,670,750...63,675,834
Ensembl chr 6:63,670,755...63,675,839 		JBrowse link
G MXD3 MAX dimerization protein 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,636,778...80,641,346
Ensembl chr 2:80,637,323...80,641,950 		JBrowse link
G MXRA8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,630,936...63,635,623
Ensembl chr 6:63,630,938...63,635,456 		JBrowse link
G N4BP3 NEDD4 binding protein 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,251,234...80,263,905
Ensembl chr 2:80,251,238...80,263,918 		JBrowse link
G NADK NAD kinase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,846,650...63,864,137
Ensembl chr 6:63,846,655...63,863,946 		JBrowse link
G NHP2 NHP2 ribonucleoprotein ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,223,439...80,227,614 JBrowse link
G NOC2L NOC2 like nucleolar associated transcriptional repressor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,307,703...63,320,799
Ensembl chr 6:63,307,695...63,335,201 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,649,882...80,810,934
Ensembl chr 2:80,654,379...80,809,059 		JBrowse link
G PANK4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,393,092...64,407,443
Ensembl chr 6:64,393,102...64,407,448 		JBrowse link
G PDLIM7 PDZ and LIM domain 7 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,453,013...80,472,660
Ensembl chr 2:80,452,706...80,472,658 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2		 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,311,743...64,317,693 JBrowse link
G PFN3 profilin 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,545,495...80,546,524
Ensembl chr 2:80,546,048...80,546,497 		JBrowse link
G PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,142,273...80,188,753
Ensembl chr 2:80,142,033...80,191,957 		JBrowse link
G PLCH2 phospholipase C eta 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,325,918...64,392,070
Ensembl chr 6:64,325,952...64,392,068 		JBrowse link
G PLEKHN1 pleckstrin homology domain containing N1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,328,054...63,336,140
Ensembl chr 6:63,328,605...63,336,138 		JBrowse link
G PRDM16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,704,181...65,012,580
Ensembl chr 6:64,704,920...65,012,570 		JBrowse link
G PRELID1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,641,844...80,646,390
Ensembl chr 2:80,641,845...80,653,670 		JBrowse link
G PRKCZ protein kinase C zeta ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,073,343...64,159,187
Ensembl chr 6:64,068,577...64,163,472 		JBrowse link
G PROP1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:79,627,466...79,631,270
Ensembl chr 2:79,627,603...79,631,270 		JBrowse link
G PRR7 proline rich 7, synaptic ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,496,105...80,508,825
Ensembl chr 2:80,496,106...80,505,430 		JBrowse link
G PRXL2B peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,432,187...64,435,328
Ensembl chr 6:64,432,148...64,435,320 		JBrowse link
G PUSL1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,593,539...63,596,921
Ensembl chr 6:63,593,959...63,599,019 		JBrowse link
G RAB24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,646,426...80,651,498 JBrowse link
G RER1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,301,139...64,311,526
Ensembl chr 6:64,301,199...64,311,783 		JBrowse link
G RGS14 regulator of G protein signaling 14 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,574,411...80,589,998
Ensembl chr 2:80,574,415...80,590,003 		JBrowse link
G RMND5B required for meiotic nuclear division 5 homolog B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,226,047...80,247,358
Ensembl chr 2:80,225,496...80,246,945 		JBrowse link
G RNF223 ring finger protein 223 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,413,080...63,445,277
Ensembl chr 6:63,413,086...63,414,357 		JBrowse link
G SAMD11 sterile alpha motif domain containing 11 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,287,449...63,308,231
Ensembl chr 6:63,287,713...63,308,482 		JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,568,171...63,578,623 JBrowse link
G SDF4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,529,853...63,539,979
Ensembl chr 6:63,529,853...63,544,944 		JBrowse link
G SKI SKI proto-oncogene ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,188,265...64,242,596
Ensembl chr 6:64,188,236...64,242,560 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,548,208...80,563,380
Ensembl chr 2:80,548,232...80,563,321 		JBrowse link
G SLC35E2 solute carrier family 35 member E2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,820,804...63,842,400
Ensembl chr 6:63,820,812...63,835,561 		JBrowse link
G SMIM1 small integral membrane protein 1 (Vel blood group) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,255,792...65,259,129
Ensembl chr 6:65,255,823...65,259,126 		JBrowse link
G SNCB synuclein beta ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:81,287,764...81,302,859
Ensembl chr 2:81,287,759...81,302,861 		JBrowse link
G SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,728,318...63,757,460
Ensembl chr 6:63,728,325...63,755,163 		JBrowse link
G TAS1R3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,613,536...63,617,831
Ensembl chr 6:63,607,990...63,617,809 		JBrowse link
G TMED9 transmembrane p24 trafficking protein 9 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,364,532...80,368,434
Ensembl chr 2:80,364,769...80,368,589 		JBrowse link
G TMEM240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,721,655...63,727,457
Ensembl chr 6:63,721,656...63,727,526 		JBrowse link
G TMEM52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,969,438...63,974,312
Ensembl chr 6:63,969,440...63,974,286 		JBrowse link
G TMEM88B transmembrane protein 88B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,686,542...63,689,298
Ensembl chr 6:63,686,546...63,688,456 		JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,516,037...63,519,323
Ensembl chr 6:63,516,045...63,518,405 		JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,523,850...63,526,672
Ensembl chr 6:63,523,804...63,526,666 		JBrowse link
G TP73 tumor protein p73 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,169,770...65,228,997
Ensembl chr 6:65,182,456...65,228,990 		JBrowse link
G TPRG1L tumor protein p63 regulated 1 like ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,150,897...65,154,311
Ensembl chr 6:65,150,903...65,154,429 		JBrowse link
G TSPAN17 tetraspanin 17 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:81,256,989...81,276,638
Ensembl chr 2:81,260,281...81,276,636 		JBrowse link
G TTC34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,478,117...64,499,034
Ensembl chr 6:64,478,408...64,499,986 		JBrowse link
G TTLL10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,494,759...63,513,884
Ensembl chr 6:63,497,597...63,511,918 		JBrowse link
G UBE2J2 ubiquitin conjugating enzyme E2 J2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,556,134...63,568,080
Ensembl chr 6:63,555,488...63,568,017 		JBrowse link
G UIMC1 ubiquitin interaction motif containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,895,631...81,040,712
Ensembl chr 2:80,929,267...81,036,448 		JBrowse link
G UNC5A unc-5 netrin receptor A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:81,061,096...81,126,191
Ensembl chr 2:81,060,803...81,126,196 		JBrowse link
G VWA1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,695,195...63,700,296
Ensembl chr 6:63,694,979...63,700,287 		JBrowse link
G WRAP73 WD repeat containing, antisense to TP73 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,155,201...65,167,091
Ensembl chr 6:65,155,209...65,167,079 		JBrowse link
G ZNF346 zinc finger protein 346 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:80,871,576...80,895,592
Ensembl chr 2:80,871,595...80,895,585 		JBrowse link
G ZNF354A zinc finger protein 354A ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:79,670,436...79,690,546
Ensembl chr 2:79,670,479...79,690,537 		JBrowse link
G ZNF354B zinc finger protein 354B ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type ClinVar PMID:28492532 NCBI chr 2:79,579,737...79,602,080
Ensembl chr 2:79,579,753...79,601,137 		JBrowse link
Ehlers-Danlos syndrome spondylodysplastic type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC39A13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 | ClinVar Annotator: match by term: Spondylocheirodysplasia, Ehlers-Danlos syndrome-like OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18513683 PMID:18985159 PMID:24033266 More... NCBI chr 2:15,194,028...15,202,936
Ensembl chr 2:15,194,017...15,210,425 		JBrowse link
Ehlers-Danlos Syndrome Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:1352273 PMID:1357232 PMID:1370809 PMID:1496983 PMID:1556139 More... NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363 		JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:22696272 PMID:23587214 PMID:24922459 PMID:28492532 NCBI chr15:93,611,856...93,981,131
Ensembl chr15:93,611,856...93,800,191 		JBrowse link
G SLC40A1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:23587214 PMID:28492532 NCBI chr15:94,140,635...94,161,793
Ensembl chr15:94,141,988...94,167,408 		JBrowse link
G WDR75 WD repeat domain 75 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:23587214 PMID:28492532 NCBI chr15:93,981,054...94,026,479
Ensembl chr15:93,981,215...94,026,707 		JBrowse link
Ellis-Van Creveld syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADD1 adducin 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 8:1,627,146...1,710,653
Ensembl chr 8:1,627,062...1,710,650 		JBrowse link
G ADRA2C adrenoceptor alpha 2C ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 8:2,320,125...2,322,162
Ensembl chr 8:2,320,226...2,321,608 		JBrowse link
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:21131972 PMID:23255504 PMID:24498942 PMID:25741868 PMID:28492532 More... NCBI chr13:118,623,787...118,773,205
Ensembl chr13:118,626,330...118,682,281 		JBrowse link
G CYTL1 cytokine like 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 8:5,455,576...5,460,861
Ensembl chr 8:5,455,671...5,460,861 		JBrowse link
G DOK7 docking protein 7 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 8:2,089,645...2,119,076
Ensembl chr 8:2,089,670...2,122,685 		JBrowse link
G EVC EvC ciliary complex subunit 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome OMIM
ClinVar		 PMID:7628126 PMID:7635486 PMID:9066272 PMID:9536098 PMID:10700162 More... NCBI chr 8:4,808,622...4,891,236
Ensembl chr 8:4,810,093...4,891,165 		JBrowse link
G EVC2 EvC ciliary complex subunit 2 susceptibility ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome
DNA:mutations		 OMIM
ClinVar
RGD		 PMID:7218275 PMID:9536098 PMID:12468274 PMID:12571802 PMID:16199547 More... RGD:1600212 NCBI chr 8:4,893,480...5,023,655
Ensembl chr 8:4,893,217...5,023,644 		JBrowse link
G FAM193A family with sequence similarity 193 member A ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 8:1,388,442...1,523,935
Ensembl chr 8:1,388,266...1,523,928 		JBrowse link
G GRK4 G protein-coupled receptor kinase 4 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 8:1,737,960...1,792,390
Ensembl chr 8:1,738,333...1,792,374 		JBrowse link
G HAUS3 HAUS augmin like complex subunit 3 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 8:1,187,149...1,198,517
Ensembl chr 8:1,073,889...1,197,086 		JBrowse link
G HGFAC HGF activator ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 8:2,077,164...2,084,506
Ensembl chr 8:2,077,176...2,084,507 		JBrowse link
G HTT huntingtin ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 8:1,809,768...1,934,002
Ensembl chr 8:1,809,785...1,934,024 		JBrowse link
G LRPAP1 LDL receptor related protein associated protein 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 8:2,129,492...2,145,632
Ensembl chr 8:2,125,405...2,145,647 		JBrowse link
G LYAR Ly1 antibody reactive ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 8:6,081,332...6,099,861
Ensembl chr 8:6,081,368...6,099,857 		JBrowse link
G MFSD10 major facilitator superfamily domain containing 10 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 8:1,710,524...1,715,015
Ensembl chr 8:1,710,530...1,715,760 		JBrowse link
G MSANTD1 Myb/SANT DNA binding domain containing 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 8:1,934,960...1,944,754
Ensembl chr 8:1,938,397...1,947,985 		JBrowse link
G MSX1 msh homeobox 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 8:5,628,381...5,632,375
Ensembl chr 8:5,628,380...5,632,607 		JBrowse link
G MXD4 MAX dimerization protein 4 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 8:1,203,163...1,216,807
Ensembl chr 8:1,203,172...1,216,725 		JBrowse link
G NOP14 NOP14 nucleolar protein ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 8:1,717,019...1,737,971
Ensembl chr 8:1,716,826...1,737,902 		JBrowse link
G NSG1 neuronal vesicle trafficking associated 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 8:6,000,054...6,023,379
Ensembl chr 8:6,000,057...6,024,769 		JBrowse link
G OTOP1 otopetrin 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 8:6,127,837...6,164,421
Ensembl chr 8:6,127,965...6,163,061 		JBrowse link
G POLN DNA polymerase nu ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 8:1,073,337...1,198,538
Ensembl chr 8:1,073,889...1,197,086 		JBrowse link
G RGS12 regulator of G protein signaling 12 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 8:1,971,390...2,074,970
Ensembl chr 8:1,963,308...2,075,971 		JBrowse link
G RNF4 ring finger protein 4 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 8:1,353,532...1,380,637
Ensembl chr 8:1,353,658...1,380,634 		JBrowse link
G SH3BP2 SH3 domain binding protein 2 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 8:1,583,169...1,619,038
Ensembl chr 8:1,583,193...1,619,037 		JBrowse link
G STK32B serine/threonine kinase 32B ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 8:5,056,816...5,418,326
Ensembl chr 8:5,056,817...5,418,329 		JBrowse link
G STX18 syntaxin 18 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 8:5,883,653...6,000,944
Ensembl chr 8:5,890,765...6,004,399 		JBrowse link
G TMEM128 transmembrane protein 128 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 8:6,114,992...6,125,139
Ensembl chr 8:6,115,002...6,125,139 		JBrowse link
G TNIP2 TNFAIP3 interacting protein 2 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 8:1,530,534...1,554,677
Ensembl chr 8:1,533,429...1,554,683 		JBrowse link
G TRAF3IP1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:25741868 NCBI chr15:137,863,612...137,912,325
Ensembl chr15:137,863,609...137,912,477 		JBrowse link
G WDR35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:118,209,112...118,279,050
Ensembl chr 3:118,209,139...118,269,452 		JBrowse link
G ZBTB49 zinc finger and BTB domain containing 49 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 8:6,050,952...6,081,304
Ensembl chr 8:6,050,952...6,081,309 		JBrowse link
G ZFYVE28 zinc finger FYVE-type containing 28 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chr 8:1,225,417...1,312,938
Ensembl chr 8:1,225,429...1,312,521 		JBrowse link
Encephalocraniocutaneous Lipomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis OMIM
ClinVar		 PMID:10766980 PMID:11173846 PMID:14513299 PMID:15793702 PMID:23819449 More... NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis ClinVar PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:7773929 More... NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
epidermolysis bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Epidermolysis bullosa ClinVar PMID:16971478 PMID:25741868 PMID:28492532 NCBI chr13:31,262,750...31,295,112 JBrowse link
G ITGB4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18348258 NCBI chr12:5,651,292...5,685,601
Ensembl chr12:5,651,292...5,685,611 		JBrowse link
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa ClinVar PMID:25741868 NCBI chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
G LOC100512977 KDEL motif-containing protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:36,856,092...36,970,940
Ensembl chr 9:36,852,560...36,879,483
Ensembl chr 9:36,852,560...36,879,483 		JBrowse link
epidermolysis bullosa dystrophica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL7A1 collagen type VII alpha 1 chain susceptibility ISO ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica | ClinVar Annotator: match by term: Hallopeau-Siemens Disease
DNA:insertion-deletion		 OMIM
ClinVar
RGD		 PMID:2425097 PMID:5910871 PMID:7577595 PMID:7695699 PMID:7833933 More... RGD:1600946 NCBI chr13:31,262,750...31,295,112 JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO mRNA,protein:decreased expression:skin: RGD PMID:15140235 RGD:12743601 NCBI chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690 		JBrowse link
G MMP1 matrix metallopeptidase 1 severity ISO ClinVar Annotator: match by term: Hallopeau-Siemens Disease
DNA:insertion:promoter:g.-1607_-1606insG (human)		 OMIM
ClinVar
RGD		 PMID:18030675 PMID:25741868 PMID:28492532 RGD:8549728 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076 		JBrowse link
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant ClinVar PMID:7695699 PMID:8218237 PMID:8755915 PMID:9536098 PMID:9804332 More... NCBI chr13:31,262,750...31,295,112 JBrowse link
Epidermolysis Bullosa Pruriginosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal dominant | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal recessive OMIM
ClinVar		 PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 PMID:8755915 More... NCBI chr13:31,262,750...31,295,112 JBrowse link
epidermolysis bullosa simplex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT5 keratin 5 susceptibility ISO DNA:mutation
ClinVar Annotator: match by term: Epidermolysis bullosa simplex | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Cockayne-Touraine type		 RGD
ClinVar		 PMID:421361 PMID:1049409 PMID:1372711 PMID:1718160 PMID:2476664 More... RGD:1600195 NCBI chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
G LOC110255312 keratin, type I cytoskeletal 14 susceptibility ISO DNA:point mutations
ClinVar Annotator: match by term: Epidermolysis bullosa simplex | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Cockayne-Touraine type | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive		 RGD
ClinVar		 PMID:1717157 PMID:8601736 PMID:10583131 PMID:10971341 PMID:11331879 More... RGD:1600173 NCBI chr12:21,074,965...21,079,393
Ensembl chr12:21,024,314...21,119,396 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:23894602 RGD:13204851 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G PLEC plectin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex ClinVar PMID:11851880 PMID:23289980 PMID:25741868 PMID:28492532 NCBI chr 4:696,355...753,859
Ensembl chr 4:689,034...753,696 		JBrowse link
Epidermolysis Bullosa Simplex 2E with Migratory Circinate Erythema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 2E, WITH MIGRATORY CIRCINATE ERYTHEMA | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with migratory circinate erythema OMIM
ClinVar		 PMID:7520042 PMID:8807337 PMID:9036937 PMID:12925204 PMID:15324323 More... NCBI chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with BP230 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DST dystonin ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, autosomal recessive 2 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:20164846 PMID:22113475 PMID:22522446 More... NCBI chr 7:28,812,423...29,300,149
Ensembl chr 7:28,812,252...29,300,152 		JBrowse link
Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100512977 KDEL motif-containing protein 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive OMIM
ClinVar		 PMID:23176819 PMID:24005056 PMID:24443915 PMID:25741868 PMID:26211931 More... NCBI chr 9:36,856,092...36,970,940
Ensembl chr 9:36,852,560...36,879,483
Ensembl chr 9:36,852,560...36,879,483 		JBrowse link
Epidermolysis Bullosa Simplex 5C with Pyloric Atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLEC plectin ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5C, with pyloric atresia | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia OMIM
ClinVar		 PMID:9536098 PMID:11851880 PMID:14675180 PMID:15206692 PMID:15654962 More... NCBI chr 4:696,355...753,859
Ensembl chr 4:689,034...753,696 		JBrowse link
Epidermolysis Bullosa Simplex 5D with Nail Dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP10 Rho GTPase activating protein 10 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 8:80,674,999...81,024,501
Ensembl chr 8:80,675,002...81,024,452 		JBrowse link
G BCLAF1 BCL2 associated transcription factor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 1:27,872,167...27,902,980
Ensembl chr 1:27,872,183...27,902,974 		JBrowse link
G DCUN1D2 defective in cullin neddylation 1 domain containing 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr11:78,673,582...78,708,959
Ensembl chr11:78,679,039...78,708,846 		JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr11:13,775,267...14,116,377
Ensembl chr11:13,959,666...14,113,230 		JBrowse link
G GPR33 G protein-coupled receptor 33 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 7:68,084,248...68,088,895
Ensembl chr 7:68,084,248...68,088,895 		JBrowse link
G HRNR hornerin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 4:96,983,596...96,992,606 JBrowse link
G IDS iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr  X:121,572,797...121,596,525
Ensembl chr  X:121,572,807...121,596,513 		JBrowse link
G PLEC plectin ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy OMIM
ClinVar		 PMID:9536098 PMID:11851880 PMID:15206692 PMID:15659326 PMID:15810881 More... NCBI chr 4:696,355...753,859
Ensembl chr 4:689,034...753,696 		JBrowse link
G RP1L1 RP1 like 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr14:13,790,287...13,841,230 JBrowse link
G TMEM249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy ClinVar NCBI chr 4:428,339...430,393
Ensembl chr 4:428,535...431,282 		JBrowse link
Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD151 CD151 molecule ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 7, with nephropathy and deafness OMIM
ClinVar		 PMID:15265795 PMID:25741868 PMID:25741871 PMID:28492532 NCBI chr 2:525,000...529,568
Ensembl chr 2:525,051...529,565 		JBrowse link
epidermolysis bullosa simplex Dowling-Meara type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex Dowling-Meara type ClinVar PMID:7520042 PMID:8807337 PMID:25741868 NCBI chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
G LOC110255312 keratin, type I cytoskeletal 14 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex Dowling-Meara type ClinVar PMID:1717157 PMID:10583131 PMID:10730767 PMID:11331879 PMID:16098032 More... NCBI chr12:21,074,965...21,079,393
Ensembl chr12:21,024,314...21,119,396 		JBrowse link
epidermolysis bullosa simplex generalized type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLHL24 kelch like family member 24 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type ClinVar PMID:25741868 PMID:27798626 PMID:27889062 PMID:28492532 PMID:29779254 More... NCBI chr13:121,564,833...121,608,146
Ensembl chr13:121,570,591...121,608,139 		JBrowse link
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type | ClinVar Annotator: match by term: Generalized EBS ClinVar PMID:7520042 PMID:8807337 PMID:20199538 PMID:25741868 NCBI chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
G LOC110255312 keratin, type I cytoskeletal 14 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type | ClinVar Annotator: match by term: Generalized EBS ClinVar PMID:1703046 PMID:1717157 PMID:1720261 PMID:2365356 PMID:7682883 More... NCBI chr12:21,074,965...21,079,393
Ensembl chr12:21,024,314...21,119,396 		JBrowse link
epidermolysis bullosa simplex localized type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis Bullosa Simplex, Weber-Cockayne Type | ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex ClinVar PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:16098032 More... NCBI chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
G LOC110255312 keratin, type I cytoskeletal 14 ISO ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex ClinVar PMID:25741868 PMID:28492532 NCBI chr12:21,074,965...21,079,393
Ensembl chr12:21,024,314...21,119,396 		JBrowse link
epidermolysis bullosa simplex Ogna type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLEC plectin ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type OMIM
ClinVar		 PMID:9536098 PMID:11851880 PMID:15206692 PMID:15810881 PMID:17576681 More... NCBI chr 4:696,355...753,859
Ensembl chr 4:689,034...753,696 		JBrowse link
epidermolysis bullosa simplex with mottled pigmentation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 2F, WITH MOTTLED PIGMENTATION | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with mottled pigmentation | ClinVar Annotator: match by term: Speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering OMIM
ClinVar		 PMID:421361 PMID:1049409 PMID:2476664 PMID:6457621 PMID:7520042 More... NCBI chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
epidermolysis bullosa simplex with muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCK5 aarF domain containing kinase 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:393,720...410,582
Ensembl chr 4:393,728...410,559 		JBrowse link
G BOP1 BOP1 ribosomal biogenesis factor ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:486,562...507,141
Ensembl chr 4:475,426...507,138 		JBrowse link
G CCDC166 coiled-coil domain containing 166 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:920,432...924,051
Ensembl chr 4:920,749...923,197 		JBrowse link
G CPSF1 cleavage and polyadenylation specific factor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:382,887...393,732 JBrowse link
G CYC1 cytochrome c1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:606,510...608,991
Ensembl chr 4:606,516...608,996 		JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:1,365,725...1,373,138 JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:452,890...463,665
Ensembl chr 4:452,662...466,684 		JBrowse link
G EEF1D eukaryotic translation elongation factor 1 delta ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:969,532...982,250
Ensembl chr 4:969,527...983,270 		JBrowse link
G EPPK1 epiplakin 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:780,276...798,760
Ensembl chr 4:785,029...798,563 		JBrowse link
G EXOSC4 exosome component 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:618,993...621,336
Ensembl chr 4:618,990...621,342 		JBrowse link
G FAM83H family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:887,472...907,523
Ensembl chr 4:892,041...907,517 		JBrowse link
G FBXL6 F-box and leucine rich repeat protein 6 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:424,433...427,799
Ensembl chr 4:424,508...427,799 		JBrowse link
G FOXH1 forkhead box H1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:320,610...324,570
Ensembl chr 4:322,838...324,481 		JBrowse link
G GFUS GDP-L-fucose synthase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:950,947...955,865
Ensembl chr 4:949,867...959,744 		JBrowse link
G GLI4 GLI family zinc finger 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:1,195,414...1,222,456
Ensembl chr 4:1,215,075...1,235,163 		JBrowse link
G GML glycosylphosphatidylinositol anchored molecule like ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:1,355,696...1,364,106 JBrowse link
G GPAA1 glycosylphosphatidylinositol anchor attachment 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:614,596...618,274
Ensembl chr 4:614,601...618,241 		JBrowse link
G GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:1,253,401...1,256,921
Ensembl chr 4:1,254,565...1,256,577 		JBrowse link
G GRINA glutamate ionotropic receptor NMDA type subunit associated protein 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:682,823...686,144
Ensembl chr 4:682,835...686,116 		JBrowse link
G GSDMD gasdermin D ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:995,753...1,001,964
Ensembl chr 4:995,763...1,000,271 		JBrowse link
G HGH1 HGH1 homolog ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:581,751...585,029
Ensembl chr 4:581,758...585,035 		JBrowse link
G HSF1 heat shock transcription factor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:463,531...486,483
Ensembl chr 4:463,393...486,473 		JBrowse link
G KIFC2 kinesin family member C2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:324,623...332,221
Ensembl chr 4:324,626...331,917 		JBrowse link
G LOC100152459 cysteine and histidine-rich protein 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:335,139...348,472
Ensembl chr 4:335,301...346,534 		JBrowse link
G LOC110260198 ly6/PLAUR domain-containing protein 2-like ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:1,461,565...1,463,707
Ensembl chr 4:1,461,588...1,465,796 		JBrowse link
G LY6D lymphocyte antigen 6 family member D ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:1,444,029...1,445,714
Ensembl chr 4:1,444,114...1,445,712 		JBrowse link
G LY6E lymphocyte antigen 6 family member E ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:1,336,112...1,341,112
Ensembl chr 4:1,337,196...1,340,786 		JBrowse link
G LY6H lymphocyte antigen 6 family member H ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:1,268,671...1,271,896
Ensembl chr 4:1,269,466...1,271,893 		JBrowse link
G LYNX1 Ly6/neurotoxin 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:1,450,112...1,455,000
Ensembl chr 4:1,450,147...1,455,889 		JBrowse link
G MAF1 MAF1 homolog, negative regulator of RNA polymerase III ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:597,410...600,520
Ensembl chr 4:597,472...600,447 		JBrowse link
G MAFA MAF bZIP transcription factor A ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:1,090,018...1,093,600
Ensembl chr 4:1,091,263...1,092,818 		JBrowse link
G MAPK15 mitogen-activated protein kinase 15 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:909,266...915,537
Ensembl chr 4:909,268...915,475 		JBrowse link
G MFSD3 major facilitator superfamily domain containing 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:293,707...295,955
Ensembl chr 4:293,708...295,789 		JBrowse link
G MROH1 maestro heat like repeat family member 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:507,223...577,859
Ensembl chr 4:507,228...577,132 		JBrowse link
G MROH6 maestro heat like repeat family member 6 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:988,367...994,613
Ensembl chr 4:988,185...993,815 		JBrowse link
G NAPRT nicotinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:983,428...986,750
Ensembl chr 4:983,423...986,748 		JBrowse link
G NRBP2 nuclear receptor binding protein 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:800,722...808,031
Ensembl chr 4:800,063...807,174 		JBrowse link
G OPLAH 5-oxoprolinase, ATP-hydrolysing ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:629,901...639,420
Ensembl chr 4:629,870...639,406 		JBrowse link
G PARP10 poly(ADP-ribose) polymerase family member 10 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:688,511...695,808 JBrowse link
G PLEC plectin ISO ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy OMIM
ClinVar		 PMID:8696340 PMID:8830774 PMID:8894687 PMID:9536098 PMID:9886273 More... NCBI chr 4:696,355...753,859
Ensembl chr 4:689,034...753,696 		JBrowse link
G PPP1R16A protein phosphatase 1 regulatory subunit 16A ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:302,621...320,048
Ensembl chr 4:297,748...320,056 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:812,137...824,321
Ensembl chr 4:812,131...824,318 		JBrowse link
G PYCR3 pyrroline-5-carboxylate reductase 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:959,709...964,195
Ensembl chr 4:959,710...964,192 		JBrowse link
G RECQL4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:287,206...293,629
Ensembl chr 4:287,214...293,913 		JBrowse link
G RHPN1 rhophilin Rho GTPase binding protein 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:1,123,098...1,133,030
Ensembl chr 4:1,123,105...1,132,966 		JBrowse link
G SCRIB scribble planar cell polarity protein ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:824,925...852,360
Ensembl chr 4:825,062...852,664 		JBrowse link
G SCRT1 scratch family transcriptional repressor 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:443,100...449,113
Ensembl chr 4:443,311...447,677 		JBrowse link
G SCX scleraxis bHLH transcription factor ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:500,884...503,276
Ensembl chr 4:500,526...503,193 		JBrowse link
G SHARPIN SHANK associated RH domain interactor ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:600,698...605,711
Ensembl chr 4:600,698...605,701 		JBrowse link
G SLC39A4 solute carrier family 39 member 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:372,681...378,519
Ensembl chr 4:372,660...378,516 		JBrowse link
G SLC52A2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:421,457...429,360
Ensembl chr 4:421,474...424,384 		JBrowse link
G SPATC1 spermatogenesis and centriole associated 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:642,962...665,330
Ensembl chr 4:643,094...664,649 		JBrowse link
G TIGD5 tigger transposable element derived 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:964,727...969,391
Ensembl chr 4:967,370...969,283 		JBrowse link
G TMEM249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:428,339...430,393
Ensembl chr 4:428,535...431,282 		JBrowse link
G TONSL tonsoku like, DNA repair protein ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:349,992...361,749
Ensembl chr 4:350,060...362,167 		JBrowse link
G TOP1MT DNA topoisomerase I mitochondrial ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:1,134,179...1,188,149
Ensembl chr 4:1,148,890...1,188,130 		JBrowse link
G VPS28 VPS28 subunit of ESCRT-I ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:362,902...368,038
Ensembl chr 4:362,912...370,588 		JBrowse link
G ZC3H3 zinc finger CCCH-type containing 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:1,009,927...1,084,133
Ensembl chr 4:1,010,638...1,089,738 		JBrowse link
G ZNF623 zinc finger protein 623 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 4:928,786...950,917
Ensembl chr 4:928,798...940,679 		JBrowse link
epidermolysis bullosa with congenital localized absence of skin and deformity of nails term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE OMIM
ClinVar		 PMID:2425097 PMID:5910871 PMID:7695699 PMID:7833933 PMID:8088783 More... NCBI chr13:31,262,750...31,295,112 JBrowse link
Epidermolysis Bullosa, Lethal Acantholytic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin ISO ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa OMIM
ClinVar		 PMID:2450378 PMID:3198322 PMID:9536098 PMID:10395892 PMID:12101406 More... NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623 		JBrowse link
epidermolytic hyperkeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma ClinVar PMID:28492532 NCBI chr13:31,262,750...31,295,112 JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17050553 NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553 		JBrowse link
G GJB3 gap junction protein beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16297190 NCBI chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,542 		JBrowse link
G GJB4 gap junction protein beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16297190 NCBI chr 6:91,004,794...91,008,231
Ensembl chr 6:91,007,200...91,008,000 		JBrowse link
G JUP junction plakoglobin ISO OMIM:113800 MouseDO NCBI chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,210 		JBrowse link
G KRT1 keratin 1 susceptibility ISO DNA:mutation: ; 5191/5192GG>A
ClinVar Annotator: match by term: Bullous erythroderma ichthyosiformis congenita of Brocq | ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma		 RGD
ClinVar		 PMID:1284546 PMID:1380725 PMID:1381288 PMID:11286616 PMID:12406348 More... RGD:1600166 NCBI chr 5:18,012,922...18,018,582
Ensembl chr 5:18,012,925...18,018,582 		JBrowse link
G KRT10 keratin 10 susceptibility ISO DNA:mutations:cds: p.R156C (human)
ClinVar Annotator: match by term: Bullous erythroderma ichthyosiformis congenita of Brocq | ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma | ClinVar Annotator: match by term: Epidermolytic Hyperkeratosis		 RGD
ClinVar		 PMID:1380725 PMID:1381287 PMID:2182100 PMID:7508181 PMID:7509230 More... RGD:1600168 NCBI chr12:21,641,263...21,645,642
Ensembl chr12:21,641,271...21,646,377 		JBrowse link
epidermolytic hyperkeratosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT1 keratin 1 ISO ClinVar Annotator: match by term: Epidermolytic hyperkeratosis 1 OMIM
ClinVar		 PMID:25741868 PMID:30288772 NCBI chr 5:18,012,922...18,018,582
Ensembl chr 5:18,012,925...18,018,582 		JBrowse link
epidermolytic hyperkeratosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT10 keratin 10 ISO ClinVar Annotator: match by term: Epidermolytic hyperkeratosis 2 OMIM
ClinVar		 PMID:25741868 PMID:25741905 NCBI chr12:21,641,263...21,645,642
Ensembl chr12:21,641,271...21,646,377 		JBrowse link
Epidermolytic Palmoplantar Keratoderma 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT1 keratin 1 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, epidermolytic, 2 OMIM
ClinVar		 PMID:11286630 PMID:16227096 PMID:25741868 PMID:28492532 PMID:33081034 More... NCBI chr 5:18,012,922...18,018,582
Ensembl chr 5:18,012,925...18,018,582 		JBrowse link
erythrokeratodermia variabilis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 ISO DNA:mutations:cds:p.E227D,p.A44V(human) RGD PMID:25398053 RGD:11568612 NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156 		JBrowse link
G GJB3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC ClinVar PMID:9843210 PMID:19050930 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,542 		JBrowse link
G GJB4 gap junction protein beta 4 ISO DNA:missense mutation: :p.F137L (human)
DNA:missense mutation:exon:p.C86S (c.256T>A) (human)
DNA:missense mutations:exon:multiple		 RGD PMID:11017804 PMID:12648223 PMID:23037955 RGD:12437072 RGD:1598970 RGD:1598971 NCBI chr 6:91,004,794...91,008,231
Ensembl chr 6:91,007,200...91,008,000 		JBrowse link
erythrokeratodermia variabilis et progressiva 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 | ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 ClinVar PMID:9843209 PMID:9843210 PMID:10587579 PMID:10594760 PMID:10798362 More... NCBI chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,542 		JBrowse link
G GJB4 gap junction protein beta 4 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 ClinVar PMID:25741868 NCBI chr 6:91,004,794...91,008,231
Ensembl chr 6:91,007,200...91,008,000 		JBrowse link
G NIPAL4 NIPA like domain containing 4 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 ClinVar NCBI chr16:65,814,588...65,831,788
Ensembl chr16:65,815,295...65,829,296 		JBrowse link
erythrokeratodermia variabilis et progressiva 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB4 gap junction protein beta 4 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 2 OMIM
ClinVar		 PMID:148984 PMID:6437964 PMID:11017804 PMID:11933201 PMID:12648223 More... NCBI chr 6:91,004,794...91,008,231
Ensembl chr 6:91,007,200...91,008,000 		JBrowse link
erythrokeratodermia variabilis et progressiva 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 3 OMIM
ClinVar		 PMID:25398053 PMID:28492532 PMID:30628963 PMID:30631135 NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156 		JBrowse link
erythrokeratodermia variabilis et progressiva 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDSR 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28575652 PMID:28774589 NCBI chr 1:158,288,544...158,329,898
Ensembl chr 1:158,288,544...158,329,881 		JBrowse link
erythrokeratodermia variabilis et progressiva 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100523123 keratin, type II cuticular Hb1 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 5 OMIM
ClinVar		 PMID:25741868 PMID:27965375 PMID:28492532 NCBI chr 5:17,608,637...17,614,061 JBrowse link
erythrokeratodermia variabilis et progressiva 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPM4 transient receptor potential cation channel subfamily M member 4 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 6 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25299611 PMID:25741868 More... NCBI chr 6:54,342,774...54,377,557
Ensembl chr 6:54,342,784...54,377,155 		JBrowse link
Erythrokeratodermia Variabilis et Progressiva 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PERP p53 apoptosis effector related to PMP22 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 7 OMIM
ClinVar		 PMID:30321533 PMID:31898316 NCBI chr 1:26,301,254...26,317,046
Ensembl chr 1:26,301,252...26,317,868 		JBrowse link
Erythrokeratodermia Variabilis, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB3 gap junction protein beta 3 ISO DNA:missense mutation:exon:p.V30I (c.G88A) (human)
DNA:missense mutation:CDS:p.L34P (101T>C) (human)		 RGD PMID:12019212 PMID:21564177 RGD:12050155 RGD:12436733 NCBI chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,542 		JBrowse link
erythropoietic protoporphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Ferrochelatase deficiency | ClinVar Annotator: match by term: Heme synthetase deficiency ClinVar PMID:22958180 PMID:24281366 PMID:25741868 PMID:28492532 NCBI chr15:121,246,180...121,254,350
Ensembl chr15:121,246,187...121,254,331 		JBrowse link
G ABCG2A ATP binding cassette subfamily G member 2A ISO OMIM:177000 | OMIM:300752 MouseDO NCBI chr 8:130,853,414...130,945,388
Ensembl chr 8:130,889,684...130,945,393 		JBrowse link
G AREG amphiregulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19267999 NCBI chr 8:70,417,935...70,428,106
Ensembl chr 8:70,417,923...70,428,102 		JBrowse link
G BTC betacellulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19267999 NCBI chr 8:70,645,721...70,697,538
Ensembl chr 8:70,649,317...70,697,420 		JBrowse link
G EREG epiregulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19267999 NCBI chr 8:70,351,316...70,372,530
Ensembl chr 8:70,351,311...70,372,569 		JBrowse link
G FECH ferrochelatase ISO ClinVar Annotator: match by term: Ferrochelatase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:106,861,628...106,898,407
Ensembl chr 1:106,854,011...106,898,591 		JBrowse link
Erythropoietic Protoporphyria 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1 ClinVar PMID:22958180 PMID:24281366 PMID:25741868 PMID:28492532 NCBI chr15:121,246,180...121,254,350
Ensembl chr15:121,246,187...121,254,331 		JBrowse link
G FECH ferrochelatase ISO ClinVar Annotator: match by term: Increased erythrocyte protoporphyrin concentration | ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1 OMIM
ClinVar		 PMID:1376018 PMID:1729699 PMID:1755842 PMID:3047929 PMID:3940245 More... NCBI chr 1:106,861,628...106,898,407
Ensembl chr 1:106,854,011...106,898,591 		JBrowse link
Erythropoietic Protoporphyria 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPX caseinolytic mitochondrial matrix peptidase chaperone subunit X ISO ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28874591 NCBI chr 1:163,173,887...163,222,067
Ensembl chr 1:163,173,891...163,222,031 		JBrowse link
G FECH ferrochelatase ISO ClinVar Annotator: match by term: Autosomal erythropoietic protoporphyria ClinVar PMID:1729699 PMID:11753383 PMID:14669009 PMID:16385445 PMID:16958804 More... NCBI chr 1:106,861,628...106,898,407
Ensembl chr 1:106,854,011...106,898,591 		JBrowse link
Erythropoietic Protoporphyria, X-Linked Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALAS2 5'-aminolevulinate synthase 2 disease_progression ISO ClinVar Annotator: match by term: ERYTHROHEPATIC PROTOPORPHYRIA, X-LINKED | ClinVar Annotator: match by term: Erythropoietic Protoporphyria, X-Linked Dominant
DNA:deletions:exon: c.1699-1700delAT, c.1706-1709delAGTG (human)		 OMIM
ClinVar
RGD		 PMID:18760763 PMID:21653323 PMID:23263862 PMID:23409301 PMID:25741868 More... RGD:18337287 NCBI chr  X:47,871,519...47,896,041
Ensembl chr  X:47,871,523...47,896,000 		JBrowse link
Familial Autoinflammatory Syndrome, with or without Immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOCS1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY OMIM
ClinVar		 PMID:25741868 PMID:32499645 PMID:32853638 PMID:33087723 NCBI chr 3:31,879,143...31,883,041
Ensembl chr 3:31,881,225...31,884,967 		JBrowse link
familial cold autoinflammatory syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP12 NLR family pyrin domain containing 12 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome ClinVar PMID:24033266 PMID:24064030 PMID:25741868 PMID:27314497 PMID:27633793 More... NCBI chr 6:56,402,617...56,425,038
Ensembl chr 6:56,402,665...56,425,101 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome ClinVar PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 More... NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228 		JBrowse link
G PLCG2 phospholipase C gamma 2 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome ClinVar PMID:25741868 NCBI chr 6:6,433,146...6,603,092
Ensembl chr 6:6,433,153...6,603,060 		JBrowse link
familial cold autoinflammatory syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1 | ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 1 OMIM
ClinVar		 PMID:49161 PMID:447320 PMID:5173311 PMID:11687797 PMID:11992256 More... NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228 		JBrowse link
familial cold autoinflammatory syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYADM myeloid associated differentiation marker ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 ClinVar PMID:28492532 NCBI chr 6:56,236,306...56,278,577
Ensembl chr 6:56,236,311...56,244,185 		JBrowse link
G NLRP12 NLR family pyrin domain containing 12 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 | ClinVar Annotator: match by term: NLRP12-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18230725 PMID:21360512 More... NCBI chr 6:56,402,617...56,425,038
Ensembl chr 6:56,402,665...56,425,101 		JBrowse link
G PRKCG protein kinase C gamma ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 ClinVar PMID:28492532 NCBI chr 6:56,213,479...56,235,683
Ensembl chr 6:56,213,480...56,234,210 		JBrowse link
G RAPGEFL1 Rap guanine nucleotide exchange factor like 1 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 ClinVar NCBI chr12:22,180,928...22,195,841
Ensembl chr12:22,181,849...22,195,840 		JBrowse link
familial cold autoinflammatory syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLCG2 phospholipase C gamma 2 ISO ClinVar Annotator: match by term: FAMILIAL ATYPICAL COLD URTICARIA | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22236196 PMID:24033266 More... NCBI chr 6:6,433,146...6,603,092
Ensembl chr 6:6,433,153...6,603,060 		JBrowse link
familial cold autoinflammatory syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPY30 dpy-30 histone methyltransferase complex regulatory subunit ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 3:107,520,641...107,533,504
Ensembl chr 3:107,520,642...107,533,496 		JBrowse link
G MEMO1 mediator of cell motility 1 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 3:107,542,045...107,657,195
Ensembl chr 3:107,542,096...107,658,455 		JBrowse link
G NLRC4 NLR family CARD domain containing 4 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More... NCBI chr 3:107,358,117...107,389,557 JBrowse link
G SLC30A6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 3:107,387,875...107,426,330
Ensembl chr 3:107,387,860...107,426,337 		JBrowse link
G SPAST spastin ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 3:107,439,810...107,508,915
Ensembl chr 3:107,439,813...107,508,926 		JBrowse link
G SRD5A2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 3:107,840,200...107,918,351
Ensembl chr 3:107,840,200...107,918,350 		JBrowse link
G XDH xanthine dehydrogenase ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,987,126...108,053,169 		JBrowse link
familial mediterranean fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 treatment
susceptibility
no_association		 ISO DNA:SNP: :3435C>T(human)
DNA:SNP,haplotype:exon:3435C>T(human)		 RGD PMID:17610314 PMID:23408444 PMID:24773260 RGD:39456094 RGD:39456095 RGD:39456097 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 susceptibility ISO DNA:insertion/deletion:intron 16: RGD PMID:24680475 RGD:40400709 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:20518740 RGD:5686880 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646 		JBrowse link
G CAT catalase disease_progression ISO RGD PMID:22135646 RGD:9480233 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452 		JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:blood plasma (human) RGD PMID:16721492 RGD:40818434 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137 		JBrowse link
G IGF1 insulin like growth factor 1 disease_progression ISO RGD PMID:21428190 RGD:5508806 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033 		JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:serum RGD PMID:16273770 RGD:8655877 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219 		JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:serum RGD PMID:20518740 RGD:5686880 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G LOC110258578 interleukin-1 beta-like ISO protein:increased expression:serum RGD PMID:22384525 RGD:6482659
G MEFV MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Familial Mediterranean fever | ClinVar Annotator: match by term: Periodic disease
ClinVar Annotator: match by term: Familial Mediterranean fever | ClinVar Annotator: match by term: Familial Periodic Fever | ClinVar Annotator: match by term: Periodic disease		 OMIM
ClinVar		 PMID:2703059 PMID:5458961 PMID:7677151 PMID:9288094 PMID:9288758 More... NCBI chr 3:38,934,573...38,948,609 JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:missense mutations:cds:g.677C>T (rs1801133), g.1298A>C (rs1801131) (human) RGD PMID:28543752 RGD:38501050 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		JBrowse link
G NLRP12 NLR family pyrin domain containing 12 ISO ClinVar Annotator: match by term: Periodic fever syndrome ClinVar PMID:28492532 NCBI chr 6:56,402,617...56,425,038
Ensembl chr 6:56,402,665...56,425,101 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 severity ISO DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human) RGD PMID:22244368 RGD:13204709 NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534 		JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Periodic disease ClinVar PMID:15805161 PMID:16876319 PMID:21228398 PMID:25326637 PMID:25741868 More... NCBI chr 7:45,447,354...45,925,141
Ensembl chr 7:45,450,950...45,925,149 		JBrowse link
G POMC proopiomelanocortin ISO protein: decreassed expression: plasma: ACTH RGD PMID:21428190 RGD:5508806 NCBI chr 3:113,661,712...113,668,558
Ensembl chr 3:113,661,004...113,670,418 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Familial Periodic Fever ClinVar PMID:25741868 NCBI chr 5:64,287,529...64,312,917
Ensembl chr 5:64,285,015...64,313,612 		JBrowse link
G SERPINE1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:22736074 RGD:13207415 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547 		JBrowse link
G SHAS2 hyaluronan synthase 2 ISO Periodic Fever Syndrome OMIA PMID:1606750 PMID:8270767 PMID:20080661 PMID:20178474 PMID:21437276 More... NCBI chr 4:17,583,154...17,613,524
Ensembl chr 4:17,596,492...17,615,480 		JBrowse link
G THBD thrombomodulin ISO protein:increased expression:blood RGD PMID:17067436 RGD:5685013 NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,217,303...30,224,099 		JBrowse link
G TLR4 toll like receptor 4 susceptibility ISO DNA:polymorphism:exon:p.D299G(human) RGD PMID:19445990 RGD:7794686 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Familial Periodic Fever ClinVar PMID:25741868 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909 		JBrowse link
Familial Mediterranean Fever, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEFV MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: FMF, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Familial Mediterranean fever, autosomal dominant OMIM
ClinVar		 PMID:2703059 PMID:5458961 PMID:7677151 PMID:9288094 PMID:9288758 More... NCBI chr 3:38,934,573...38,948,609 JBrowse link
Finnish type amyloidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSN gelsolin ISO ClinVar Annotator: match by term: GSN-related condition | ClinVar Annotator: match by term: Meretoja syndrome OMIM
ClinVar		 PMID:1311149 PMID:1315718 PMID:1322359 PMID:1322360 PMID:1338910 More... NCBI chr 1:261,295,711...261,372,848
Ensembl chr 1:261,307,008...261,372,848 		JBrowse link
focal dermal hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PORCN porcupine O-acyltransferase ISO ClinVar Annotator: match by term: Focal dermal hypoplasia | ClinVar Annotator: match by term: PORCN-related condition OMIM
ClinVar		 PMID:17546030 PMID:17546031 PMID:18325042 PMID:19277062 PMID:19309688 More... NCBI chr  X:42,653,696...42,669,526
Ensembl chr  X:42,653,789...42,669,517 		JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Gorlin-Goltz Syndrome ClinVar PMID:1347096 PMID:8302318 PMID:8658145 PMID:8840969 PMID:8981943 More... NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223 		JBrowse link
G PTCH2 patched 2 ISO ClinVar Annotator: match by term: Gorlin-Goltz Syndrome ClinVar PMID:28492532 NCBI chr 6:166,491,649...166,513,137
Ensembl chr 6:166,495,763...166,512,648 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Gorlin-Goltz Syndrome ClinVar PMID:12068298 PMID:19533801 PMID:21188540 PMID:25741868 PMID:26467025 More... NCBI chr14:113,500,001...113,628,064
Ensembl chr14:113,500,842...113,626,003 		JBrowse link
Focal Facial Dermal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP26C1 cytochrome P450 family 26 subfamily C member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:104,550,901...104,558,977
Ensembl chr14:104,551,134...104,559,978 		JBrowse link
G TWIST2 twist family bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:138,228,640...138,276,341
Ensembl chr15:138,228,807...138,229,289 		JBrowse link
Focal Facial Dermal Dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TWIST2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Focal facial dermal dysplasia 3, Setleis type OMIM
ClinVar		 PMID:8818454 PMID:14069095 PMID:20691403 PMID:21931173 NCBI chr15:138,228,640...138,276,341
Ensembl chr15:138,228,807...138,229,289 		JBrowse link
Focal Facial Dermal Dysplasia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP26C1 cytochrome P450 family 26 subfamily C member 1 ISO ClinVar Annotator: match by term: Focal facial dermal dysplasia 4 OMIM
ClinVar		 PMID:16530710 PMID:23161670 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr14:104,550,901...104,558,977
Ensembl chr14:104,551,134...104,559,978 		JBrowse link
focal nonepidermolytic palmoplantar keratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPATA22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma ClinVar NCBI chr12:49,573,050...49,609,232
Ensembl chr12:49,576,835...49,608,237 		JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 ISO ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma ClinVar PMID:9536098 PMID:17576681 PMID:21285946 PMID:24452206 PMID:25285920 More... NCBI chr12:49,638,852...49,671,671
Ensembl chr12:49,635,927...49,671,613 		JBrowse link
focal nonepidermolytic palmoplantar keratoderma 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPV3 transient receptor potential cation channel subfamily V member 3 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr12:49,638,852...49,671,671
Ensembl chr12:49,635,927...49,671,613 		JBrowse link
Generalized Epidermolysis Bullosa Simplex 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLHL24 kelch like family member 24 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type ClinVar PMID:25741868 PMID:27798626 PMID:27889062 PMID:28492532 PMID:29779254 More... NCBI chr13:121,564,833...121,608,146
Ensembl chr13:121,570,591...121,608,139 		JBrowse link
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type ClinVar PMID:7520042 PMID:8807337 PMID:20199538 PMID:25741868 NCBI chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
G LOC110255312 keratin, type I cytoskeletal 14 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type OMIM
ClinVar		 PMID:1703046 PMID:1717157 PMID:1720261 PMID:2365356 PMID:7682883 More... NCBI chr12:21,074,965...21,079,393
Ensembl chr12:21,024,314...21,119,396 		JBrowse link
Generalized Epidermolysis Bullosa Simplex 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DST dystonin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:28,812,423...29,300,149
Ensembl chr 7:28,812,252...29,300,152 		JBrowse link
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE ClinVar PMID:7520042 PMID:8807337 PMID:25741868 NCBI chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
G LOC110255312 keratin, type I cytoskeletal 14 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive OMIM
ClinVar		 PMID:7525407 PMID:7525408 PMID:7526933 PMID:8875963 PMID:10971341 More... NCBI chr12:21,074,965...21,079,393
Ensembl chr12:21,024,314...21,119,396 		JBrowse link
Generalized Epidermolysis Bullosa Simplex 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2B, generalized intermediate OMIM
ClinVar		 PMID:1718160 PMID:7534039 PMID:7686424 PMID:9740251 PMID:11407988 More... NCBI chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
Generalized Epidermolysis Bullosa Simplex 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive OMIM
ClinVar		 PMID:16465624 PMID:20199538 PMID:25741868 PMID:31312705 NCBI chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
Generalized Epidermolysis Bullosa Simplex 6 with Scarring and Hair Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLHL24 kelch like family member 24 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss OMIM
ClinVar		 PMID:25741868 PMID:27798626 PMID:27889062 PMID:28492532 PMID:29779254 More... NCBI chr13:121,564,833...121,608,146
Ensembl chr13:121,570,591...121,608,139 		JBrowse link
Generalized Severe Epidermolysis Bullosa Simplex 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe ClinVar PMID:7520042 PMID:8807337 PMID:9036937 PMID:10730767 PMID:16098032 More... NCBI chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
G LOC110255312 keratin, type I cytoskeletal 14 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe OMIM
ClinVar		 PMID:1703046 PMID:1717157 PMID:1720261 PMID:9804355 PMID:10583131 More... NCBI chr12:21,074,965...21,079,393
Ensembl chr12:21,024,314...21,119,396 		JBrowse link
Generalized Severe Epidermolysis Bullosa Simplex 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2A, generalized severe OMIM
ClinVar		 PMID:1372711 PMID:8757772 PMID:9036937 PMID:10234505 PMID:10383750 More... NCBI chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
geroderma osteodysplasticum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GORAB golgin, RAB6 interacting ISO ClinVar Annotator: match by term: Geroderma osteodysplastica OMIM
ClinVar		 PMID:631850 PMID:18997784 PMID:19681135 PMID:25741868 PMID:25741905 More... NCBI chr 4:80,568,535...80,590,709
Ensembl chr 4:80,568,859...80,590,679 		JBrowse link
Griscelli syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAB27A RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli syndrome ClinVar PMID:10835631 PMID:12148598 PMID:16551969 PMID:18350256 PMID:19953648 More... NCBI chr 1:116,532,816...116,606,477
Ensembl chr 1:116,532,974...116,606,474 		JBrowse link
Griscelli syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO5A myosin VA ISO ClinVar Annotator: match by term: Griscelli syndrome type 1 | ClinVar Annotator: match by term: Griscelli syndrome, cutaneous and neurologic type OMIM
ClinVar		 PMID:9207796 PMID:9536098 PMID:10704277 PMID:12058346 PMID:17576681 More... NCBI chr 1:119,165,751...119,398,591
Ensembl chr 1:119,165,942...119,394,725 		JBrowse link
Griscelli syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCPG1 cell cycle progression 1 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr 1:116,447,171...116,492,917
Ensembl chr 1:116,449,079...116,492,907 		JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr 1:116,331,217...116,431,673
Ensembl chr 1:116,332,630...116,430,984 		JBrowse link
G PIERCE2 piercer of microtubule wall 2 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr 1:116,435,725...116,448,887
Ensembl chr 1:116,435,820...116,448,972 		JBrowse link
G PIGB phosphatidylinositol glycan anchor biosynthesis class B ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:10835631 PMID:23160464 PMID:28492532 NCBI chr 1:116,492,910...116,519,673
Ensembl chr 1:116,491,886...116,532,934 		JBrowse link
G RAB27A RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 | ClinVar Annotator: match by term: Partial albinism and immunodeficiency syndrome OMIM
ClinVar		 PMID:8319705 PMID:9536098 PMID:10835631 PMID:12058346 PMID:12148598 More... NCBI chr 1:116,532,816...116,606,477
Ensembl chr 1:116,532,974...116,606,474 		JBrowse link
Griscelli syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MLPH melanophilin ISO ClinVar Annotator: match by term: Griscelli syndrome type 3 | ClinVar Annotator: match by term: Hypomelanosis with no immunologic or neurologic manifestations OMIM
ClinVar		 PMID:12148598 PMID:12897212 PMID:21883982 PMID:22711375 PMID:25741868 More... NCBI chr15:137,173,962...137,219,724
Ensembl chr15:137,174,009...137,219,713 		JBrowse link
G MYO5A myosin VA ISO ClinVar Annotator: match by term: Griscelli syndrome type 3 ClinVar PMID:12148598 PMID:12897212 PMID:22711375 PMID:25283056 NCBI chr 1:119,165,751...119,398,591
Ensembl chr 1:119,165,942...119,394,725 		JBrowse link
Hailey-Hailey disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2C1 ATPase secretory pathway Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Familial benign pemphigus OMIM
ClinVar		 PMID:3978039 PMID:10615129 PMID:10767338 PMID:11874499 PMID:15545997 More... NCBI chr13:1,461,562...1,580,035
Ensembl chr13:1,438,615...1,612,676 		JBrowse link
Harderoporphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPOX coproporphyrinogen oxidase ISO ClinVar Annotator: match by term: Harderoporphyria OMIM
ClinVar		 PMID:6886003 PMID:7757079 PMID:7987309 PMID:8286403 PMID:9454777 More... NCBI chr13:160,332,436...160,345,862
Ensembl chr13:160,332,436...160,348,232 		JBrowse link
HELIX syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN10 claudin 10 ISO ClinVar Annotator: match by term: HELIX syndrome OMIM
ClinVar		 PMID:25741868 PMID:25741903 PMID:28686597 PMID:28771254 PMID:32860008 NCBI chr11:65,027,706...65,145,002
Ensembl chr11:65,121,607...65,145,072 		JBrowse link
Hepatic Porphyrias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALAD aminolevulinate dehydratase ISO CTD Direct Evidence: marker/mechanism
protein:increased activity:liver (rat)		 CTD
RGD		 PMID:1905639 PMID:3684400 PMID:6721832 RGD:4144806 NCBI chr 1:254,015,426...254,027,584
Ensembl chr 1:254,012,850...254,027,508 		JBrowse link
G CPOX coproporphyrinogen oxidase ISO protein:decreased activity:liver, mitochondrial inner membrane (rat)
protein:decreased activity:liver (mouse)		 RGD PMID:2079105 PMID:19482825 RGD:19165350 RGD:4144824 NCBI chr13:160,332,436...160,345,862
Ensembl chr13:160,332,436...160,348,232 		JBrowse link
G FECH ferrochelatase ISO protein:increased activity:liver (rat) RGD PMID:6721832 RGD:4144806 NCBI chr 1:106,861,628...106,898,407
Ensembl chr 1:106,854,011...106,898,591 		JBrowse link
G HMBS hydroxymethylbilane synthase ISO protein:increased activity:liver (rat) RGD PMID:6721832 RGD:4144806 NCBI chr 9:46,300,039...46,308,681
Ensembl chr 9:46,300,050...46,308,868 		JBrowse link
G PPOX protoporphyrinogen oxidase ISO protein:decreased activity:liver, kidney (mouse)
DNA:transition:cds:p.R59W (human)
DNA:mutations:cds:multiple (human)
DNA:missense mutation:cds:p.G232R (human)		 RGD PMID:8852667 PMID:9254745 PMID:9431441 PMID:10486317 RGD:1599172 RGD:1599174 RGD:1599176 RGD:4145281 NCBI chr 4:89,277,984...89,288,946
Ensembl chr 4:89,284,500...89,288,902 		JBrowse link
G UROD uroporphyrinogen decarboxylase ISO protein:decreased activity:liver (mouse)
protein:decreased activity:liver (rat)		 RGD PMID:3271868 PMID:6721832 RGD:4144806 RGD:4145290 NCBI chr 6:166,327,243...166,330,558
Ensembl chr 6:166,327,247...166,330,614 		JBrowse link
hepatoerythropoietic porphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UROD uroporphyrinogen decarboxylase ISO ClinVar Annotator: match by term: Hepatoerythropoietic porphyria ClinVar PMID:1634232 PMID:1905636 PMID:2892774 PMID:2920211 PMID:3775362 More... NCBI chr 6:166,327,243...166,330,558
Ensembl chr 6:166,327,247...166,330,614 		JBrowse link
Hereditary Autoinflammatory Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRC4 NLR family CARD domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25217959 PMID:25217960 NCBI chr 3:107,358,117...107,389,557 JBrowse link
G TNFAIP3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26642243 NCBI chr 1:26,474,158...26,489,771
Ensembl chr 1:26,473,938...26,489,822 		JBrowse link
hereditary coproporphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: CPO deficiency | ClinVar Annotator: match by term: Hereditary coproporphyria ClinVar PMID:22958180 PMID:25741868 PMID:28492532 NCBI chr15:121,246,180...121,254,350
Ensembl chr15:121,246,187...121,254,331 		JBrowse link
G CPOX coproporphyrinogen oxidase ISO ClinVar Annotator: match by term: CPOX-related condition | ClinVar Annotator: match by term: CPOX-related disorders | ClinVar Annotator: match by term: Coproporphyria | ClinVar Annotator: match by term: Coproporphyria, digenic | ClinVar Annotator: match by term: Hereditary coproporphyria OMIM
ClinVar		 PMID:6886003 PMID:7757079 PMID:7987309 PMID:8159699 PMID:8286403 More... NCBI chr13:160,332,436...160,345,862
Ensembl chr13:160,332,436...160,348,232 		JBrowse link
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM111B FAM111 trypsin like peptidase B ISO ClinVar Annotator: match by term: Hereditary sclerosing poikiloderma with tendon and pulmonary involvement OMIM
ClinVar		 PMID:17034542 PMID:24268661 PMID:25741868 PMID:26471370 PMID:26495788 More... NCBI chr 2:12,268,692...12,279,386
Ensembl chr 2:12,268,695...12,279,559 		JBrowse link
Hermansky-Pudlak syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP3B1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:16507770 PMID:23403622 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 2:86,875,922...87,142,722
Ensembl chr 2:86,873,290...87,142,768 		JBrowse link
G AP3D1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar NCBI chr 2:76,428,443...76,471,266
Ensembl chr 2:76,428,476...76,471,257 		JBrowse link
G BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:25741868 PMID:31064749 NCBI chr 6:51,590,497...51,591,222
Ensembl chr 6:51,590,497...51,591,222 		JBrowse link
G BLOC1S4 biogenesis of lysosomal organelles complex 1 subunit 4 ISO MouseDO NCBI chr 8:4,093,619...4,095,790
Ensembl chr 8:4,092,050...4,095,772 		JBrowse link
G BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:32565547 NCBI chr 7:5,324,467...5,363,346
Ensembl chr 7:5,321,655...5,363,538 		JBrowse link
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:10610180 PMID:21665000 PMID:22461475 PMID:25741868 PMID:26575419 More... NCBI chr 1:126,168,944...126,184,813
Ensembl chr 1:126,165,994...126,184,858 		JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO protein:increased secretion:lung, alveolar macrophage (human) RGD PMID:19729668 RGD:4891476 NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118 		JBrowse link
G CP ceruloplasmin ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:11590544 PMID:16199547 PMID:18414213 PMID:24033266 PMID:25741868 More... NCBI chr13:89,396,713...89,463,540
Ensembl chr13:89,396,708...89,463,476 		JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 disease_progression ISO RGD PMID:25347450 RGD:11352293 NCBI chr15:15,663,652...15,666,706
Ensembl chr15:15,663,494...15,667,232 		JBrowse link
G DTNBP1 dystrobrevin binding protein 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:24033266 PMID:28492532 NCBI chr 7:11,602,470...11,720,156
Ensembl chr 7:11,600,795...11,720,318 		JBrowse link
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9536098 More... NCBI chr14:109,730,597...109,755,288
Ensembl chr14:109,730,598...109,751,985 		JBrowse link
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:11590544 PMID:16199547 PMID:17933573 PMID:18414213 PMID:24033266 More... NCBI chr13:89,360,829...89,409,502
Ensembl chr13:89,360,874...89,410,525 		JBrowse link
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:12664304 PMID:24033266 PMID:25741868 PMID:26575419 PMID:28492532 More... NCBI chr14:44,041,684...44,073,661
Ensembl chr14:44,049,707...44,073,621 		JBrowse link
G HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:12548288 PMID:15296495 PMID:16199547 PMID:21833017 PMID:23607980 More... NCBI chr 2:40,906,785...40,938,847
Ensembl chr 2:40,906,806...40,941,944 		JBrowse link
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome ClinVar PMID:12548288 PMID:17041891 PMID:19843503 PMID:24033266 PMID:25741868 More... NCBI chr14:113,081,981...113,084,534
Ensembl chr14:113,081,981...113,084,534 		JBrowse link
G KXD1 KxDL motif containing 1 ISO MouseDO NCBI chr 2:59,242,301...59,250,893
Ensembl chr 2:59,242,310...59,247,713 		JBrowse link
G RAB38 RAB38, member RAS oncogene family ISO RGD PMID:19897744 RGD:2324690 NCBI chr 9:21,577,083...21,640,637
Ensembl chr 9:21,577,033...21,640,115 		JBrowse link
G RABGGTA Rab geranylgeranyltransferase subunit alpha ISO MouseDO NCBI chr 7:75,021,716...75,028,229
Ensembl chr 7:75,021,755...75,028,875 		JBrowse link
G SLC7A11 solute carrier family 7 member 11 ISO MouseDO NCBI chr 8:88,608,083...88,690,589
Ensembl chr 8:88,608,174...88,687,250 		JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes ISO MouseDO NCBI chr14:30,469,003...30,496,626
Ensembl chr14:30,469,070...30,495,470 		JBrowse link
Hermansky-Pudlak syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP3B1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:86,875,922...87,142,722
Ensembl chr 2:86,873,290...87,142,768 		JBrowse link
G AP3D1 adaptor related protein complex 3 subunit delta 1 ISO OMIM:203300 MouseDO NCBI chr 2:76,428,443...76,471,266
Ensembl chr 2:76,428,476...76,471,257 		JBrowse link
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:25741868 PMID:28492532 PMID:33543539 NCBI chr 1:126,168,944...126,184,813
Ensembl chr 1:126,165,994...126,184,858 		JBrowse link
G CP ceruloplasmin ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:25741868 PMID:28492532 NCBI chr13:89,396,713...89,463,540
Ensembl chr13:89,396,708...89,463,476 		JBrowse link
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: HPS1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1 OMIM
ClinVar		 PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9536098 More... NCBI chr14:109,730,597...109,755,288
Ensembl chr14:109,730,598...109,751,985 		JBrowse link
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ClinVar PMID:11590544 PMID:25741868 PMID:28492532 PMID:31898847 NCBI chr13:89,360,829...89,409,502
Ensembl chr13:89,360,874...89,410,525 		JBrowse link
G RAB27A RAB27A, member RAS oncogene family ISO OMIM:203300 MouseDO NCBI chr 1:116,532,816...116,606,477
Ensembl chr 1:116,532,974...116,606,474 		JBrowse link
Hermansky-Pudlak Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP3D1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: AP3D1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 10 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26744459 PMID:28492532 More... NCBI chr 2:76,428,443...76,471,266
Ensembl chr 2:76,428,476...76,471,257 		JBrowse link
Hermansky-Pudlak Syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 11 OMIM
ClinVar		 PMID:25741868 PMID:32565547 NCBI chr 7:5,324,467...5,363,346
Ensembl chr 7:5,321,655...5,363,538 		JBrowse link
Hermansky-Pudlak syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGGF1 angiogenic factor with G-patch and FHA domains 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:85,890,423...85,941,314
Ensembl chr 2:85,890,481...85,934,358 		JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 OMIM
ClinVar		 PMID:8042664 PMID:9536098 PMID:10024875 PMID:11809908 PMID:14566336 More... NCBI chr 2:86,875,922...87,142,722
Ensembl chr 2:86,873,290...87,142,768 		JBrowse link
G AP3D1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:28492532 NCBI chr 2:76,428,443...76,471,266
Ensembl chr 2:76,428,476...76,471,257 		JBrowse link
G ARSB arylsulfatase B ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:87,614,938...87,779,553
Ensembl chr 2:87,614,963...87,778,447 		JBrowse link
G CRHBP corticotropin releasing hormone binding protein ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:85,814,399...85,830,598
Ensembl chr 2:85,816,816...85,831,179 		JBrowse link
G F2RL1 F2R like trypsin receptor 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:85,732,082...85,747,552
Ensembl chr 2:85,732,189...85,750,858 		JBrowse link
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:11590544 PMID:25741868 PMID:28492532 PMID:31898847 PMID:32581362 NCBI chr13:89,360,829...89,409,502
Ensembl chr13:89,360,874...89,410,525 		JBrowse link
G LHFPL2 LHFPL tetraspan subfamily member 2 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:87,321,119...87,498,686
Ensembl chr 2:87,322,934...87,349,878 		JBrowse link
G OTP orthopedia homeobox ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:86,529,293...86,566,414
Ensembl chr 2:86,528,348...86,537,527 		JBrowse link
G PDE8B phosphodiesterase 8B ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:86,007,190...86,323,796
Ensembl chr 2:85,949,174...86,323,795 		JBrowse link
G S100Z S100 calcium binding protein Z ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:85,757,636...85,771,742
Ensembl chr 2:85,767,614...85,770,957 		JBrowse link
G SCAMP1 secretory carrier membrane protein 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:87,210,839...87,313,520
Ensembl chr 2:87,210,846...87,316,112 		JBrowse link
G TBCA tubulin folding cofactor A ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:86,581,603...86,664,994
Ensembl chr 2:86,579,835...86,665,163 		JBrowse link
G WDR41 WD repeat domain 41 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:86,322,933...86,380,619
Ensembl chr 2:86,319,014...86,380,588 		JBrowse link
G ZBED3 zinc finger BED-type containing 3 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 ClinVar PMID:16507770 PMID:23403622 PMID:28492532 NCBI chr 2:85,945,357...85,958,452 JBrowse link
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CP ceruloplasmin ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3 ClinVar PMID:11590544 PMID:16199547 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr13:89,396,713...89,463,540
Ensembl chr13:89,396,708...89,463,476 		JBrowse link
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3 OMIM
ClinVar		 PMID:9536098 PMID:11455388 PMID:11590544 PMID:16199547 PMID:17576681 More... NCBI chr13:89,360,829...89,409,502
Ensembl chr13:89,360,874...89,410,525 		JBrowse link
Hermansky-Pudlak syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome with pulmonary fibrosis ClinVar PMID:12442288 PMID:16185271 PMID:25741868 PMID:28492532 NCBI chr14:109,730,597...109,755,288
Ensembl chr14:109,730,598...109,751,985 		JBrowse link
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: HPS4-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 4 OMIM
ClinVar		 PMID:11836498 PMID:12664304 PMID:15108212 PMID:16199547 PMID:20158590 More... NCBI chr14:44,041,684...44,073,661
Ensembl chr14:44,049,707...44,073,621 		JBrowse link
Hermansky-Pudlak syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: HPS5-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5 OMIM
ClinVar		 PMID:12548288 PMID:15296495 PMID:16199547 PMID:21833017 PMID:22995991 More... NCBI chr 2:40,906,785...40,938,847
Ensembl chr 2:40,906,806...40,941,944 		JBrowse link
Hermansky-Pudlak syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 ISO ClinVar Annotator: match by term: HPS6-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 6 OMIM
ClinVar		 PMID:12548288 PMID:17041891 PMID:19843503 PMID:20158590 PMID:24033266 More... NCBI chr14:113,081,981...113,084,534
Ensembl chr14:113,081,981...113,084,534 		JBrowse link
Hermansky-Pudlak syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DTNBP1 dystrobrevin binding protein 1 ISO ClinVar Annotator: match by term: DTNBP1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 7 OMIM
ClinVar		 PMID:12923531 PMID:23364359 PMID:24033266 PMID:25741868 PMID:28259707 More... NCBI chr 7:11,602,470...11,720,156
Ensembl chr 7:11,600,795...11,720,318 		JBrowse link
Hermansky-Pudlak syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 ISO ClinVar Annotator: match by term: BLOC1S3-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 8 OMIM
ClinVar		 PMID:16385460 PMID:22709368 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 6:51,590,497...51,591,222
Ensembl chr 6:51,590,497...51,591,222 		JBrowse link
Hermansky-Pudlak syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 9 OMIM
ClinVar		 PMID:9536098 PMID:10610180 PMID:16199547 PMID:17576681 PMID:21665000 More... NCBI chr 1:126,168,944...126,184,813
Ensembl chr 1:126,165,994...126,184,858 		JBrowse link
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCLRE1B DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:35007328 NCBI chr 4:106,646,591...106,656,490
Ensembl chr 4:106,646,011...106,656,452 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:7607282 PMID:10583221 PMID:12437656 PMID:19734544 PMID:20301779 More... NCBI chr  X:125,218,928...125,228,881
Ensembl chr  X:125,218,923...125,229,525 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 ISO DNA:nonsense mutation, missense mutation:cds:c.C2920T:p.R974X, c.G1476T:p.M492I (human) RGD PMID:23959892 RGD:152977765 NCBI chr17:62,611,844...62,636,628
Ensembl chr17:62,611,909...62,634,690 		JBrowse link
G TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia ClinVar PMID:20502709 PMID:25741868 PMID:28492532 PMID:34890115 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:75,056,790...75,067,895
Ensembl chr 7:75,056,798...75,063,979 		JBrowse link
hyaline fibromatosis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR2 ANTXR cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Hyaline fibromatosis syndrome OMIM
ClinVar		 PMID:12973667 PMID:14508707 PMID:15725249 PMID:20331448 PMID:22383261 More... NCBI chr 8:137,728,849...137,878,336
Ensembl chr 8:137,618,616...137,878,333 		JBrowse link
G B4GALT1 beta-1,4-galactosyltransferase 1 ISO ClinVar Annotator: match by term: Hyalinosis, Inherited Systemic ClinVar PMID:25741868 PMID:28492532 NCBI chr10:33,317,295...33,381,285
Ensembl chr10:33,317,305...33,381,285 		JBrowse link
hypohidrotic ectodermal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDA ectodysplasin A ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... NCBI chr  X:55,770,958...56,103,296
Ensembl chr  X:55,771,041...56,103,265 		JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More... NCBI chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784 		JBrowse link
G EDARADD EDAR associated death domain ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:20222921 PMID:20979233 PMID:21448560 PMID:21626677 PMID:25741868 More... NCBI chr14:54,924,156...54,992,206
Ensembl chr14:54,925,771...54,990,848 		JBrowse link
G LOC100511376 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More... NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495 		JBrowse link
G TRAF6 TNF receptor associated factor 6 ISO OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO NCBI chr 2:24,602,749...24,628,263
Ensembl chr 2:24,602,804...24,626,072 		JBrowse link
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 PMID:22581971 More... NCBI chr15:120,925,204...120,939,032
Ensembl chr15:120,925,499...120,938,430 		JBrowse link
hypomelanosis of Ito term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Incontinentia pigmenti syndrome ClinVar PMID:11590134 PMID:18222329 PMID:18350553 PMID:19656162 PMID:24339369 More... NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		JBrowse link
Ichthyosiform Erythroderma, Corneal Involvement, Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP1B1 adaptor related protein complex 1 subunit beta 1 ISO ClinVar Annotator: match by term: Autosomal recessive keratitis-ichthyosis-deafness syndrome OMIM
ClinVar		 PMID:25741868 PMID:31630788 PMID:31630791 PMID:32969855 PMID:33349978 More... NCBI chr14:46,469,462...46,520,175
Ensembl chr14:46,469,430...46,520,153 		JBrowse link
ichthyosis vulgaris term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: FLG-related disorders ClinVar PMID:17688236 PMID:19654294 PMID:20104584 PMID:20858050 PMID:21120943 More... NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,953...8,858,418 		JBrowse link
G LBR lamin B receptor ISO OMIM:146700 MouseDO NCBI chr10:13,389,896...13,416,831
Ensembl chr10:13,386,946...13,416,759 		JBrowse link
IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLCG1 phospholipase C gamma 1 ISO ClinVar Annotator: match by term: Immune dysregulation, autoimmunity, and autoinflammation OMIM
ClinVar		 PMID:37422272 NCBI chr17:43,810,003...43,844,553
Ensembl chr17:43,810,048...43,844,554 		JBrowse link
Immunodeficiency 113 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARPC5 actin related protein 2/3 complex subunit 5 ISO ClinVar Annotator: match by term: Immunodeficiency 133 with autoimmunity and autoinflammation OMIM
ClinVar		 PMID:37349293 NCBI chr 9:124,839,062...124,847,906
Ensembl chr 9:124,837,765...124,848,105 		JBrowse link
Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL6ST interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Immunodeficiency 94 with autoinflammation and dysmorphic facies OMIM
ClinVar		 PMID:19020503 PMID:25741868 PMID:33517393 NCBI chr16:35,101,304...35,151,832
Ensembl chr16:35,101,306...35,192,220 		JBrowse link
Immunodeficiency 97 with Autoinflammation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO ClinVar Annotator: match by term: Immunodeficiency 97 with autoinflammation OMIM
ClinVar		 PMID:31554793 PMID:33054089 NCBI chr 9:106,698,200...106,748,217
Ensembl chr 9:106,698,207...106,745,099 		JBrowse link
Immunodeficiency 98 with Autoinflammation, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FASLG Fas ligand ISO ClinVar Annotator: match by term: Immunodeficiency 98 with autoinflammation, X-linked ClinVar PMID:28492532 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464 		JBrowse link
G TLR8 toll like receptor 8 ISO ClinVar Annotator: match by term: Immunodeficiency 98 with autoinflammation, X-linked OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33512449 PMID:34981838 NCBI chr  X:9,551,284...9,616,762
Ensembl chr  X:9,597,604...9,616,757 		JBrowse link
inflammatory poikiloderma with hair abnormalities and acral keratoses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LTV1 LTV1 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Inflammatory poikiloderma with hair abnormalities and acral keratoses OMIM
ClinVar		 PMID:34999892 NCBI chr 1:21,406,949...21,430,252
Ensembl chr 1:21,412,286...21,430,195 		JBrowse link
Johanson-Blizzard syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 ISO ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness OMIM
ClinVar		 PMID:16311597 PMID:18553553 PMID:19006206 PMID:23778732 PMID:24033266 More... NCBI chr 1:128,319,311...128,474,330
Ensembl chr 1:128,319,311...128,474,302 		JBrowse link
junctional epidermolysis bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL17A1 collagen type XVII alpha 1 chain susceptibility ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa RGD
ClinVar		 PMID:7550320 PMID:9199555 PMID:9740252 PMID:10398261 PMID:10577906 More... RGD:1600884 NCBI chr14:114,959,404...115,007,734
Ensembl chr14:114,959,411...115,064,783 		JBrowse link
G ITGA6 integrin subunit alpha 6 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa ClinVar PMID:21357940 PMID:25741868 NCBI chr15:78,504,108...78,591,779
Ensembl chr15:78,504,078...78,591,777 		JBrowse link
G ITGB4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7545057 NCBI chr12:5,651,292...5,685,601
Ensembl chr12:5,651,292...5,685,611 		JBrowse link
G LAMA3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa ClinVar PMID:10366601 PMID:11810295 PMID:12915477 PMID:15538630 PMID:16473856 More... NCBI chr 6:108,548,818...108,805,700
Ensembl chr 6:108,548,715...108,805,690 		JBrowse link
G LAMB3 laminin subunit beta 3 susceptibility ISO DNA:nonsense mutation
ClinVar Annotator: match by term: Junctional epidermolysis bullosa		 RGD
ClinVar		 PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... RGD:1600209 NCBI chr 9:133,298,009...133,351,162
Ensembl chr 9:133,311,834...133,351,197 		JBrowse link
G LAMC2 laminin subunit gamma 2 susceptibility ISO DNA:splice-site mutation, deletion-insertion
ClinVar Annotator: match by term: Junctional epidermolysis bullosa		 RGD
ClinVar		 PMID:8012393 PMID:9856849 PMID:11231327 PMID:11810295 PMID:11907499 More... RGD:1600210 NCBI chr 9:124,427,545...124,499,672
Ensembl chr 9:124,435,807...124,495,351 		JBrowse link
Junctional Epidermolysis Bullosa 1A, Intermediate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAMA3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE ClinVar PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 PMID:17362460 More... NCBI chr 6:108,548,818...108,805,700
Ensembl chr 6:108,548,715...108,805,690 		JBrowse link
G LAMB3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE OMIM
ClinVar		 PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chr 9:133,298,009...133,351,162
Ensembl chr 9:133,311,834...133,351,197 		JBrowse link
Junctional Epidermolysis Bullosa 1B, Severe term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAMA3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE ClinVar PMID:9536098 PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 More... NCBI chr 6:108,548,818...108,805,700
Ensembl chr 6:108,548,715...108,805,690 		JBrowse link
G LAMB3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE OMIM
ClinVar		 PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chr 9:133,298,009...133,351,162
Ensembl chr 9:133,311,834...133,351,197 		JBrowse link
G LAMC2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE ClinVar PMID:11907499 PMID:16199547 PMID:16473856 PMID:25741868 PMID:28492532 NCBI chr 9:124,427,545...124,499,672
Ensembl chr 9:124,435,807...124,495,351 		JBrowse link
Junctional Epidermolysis Bullosa 2A, Intermediate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAMA3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 2A, intermediate OMIM
ClinVar		 PMID:11810295 PMID:17362460 PMID:25741868 NCBI chr 6:108,548,818...108,805,700
Ensembl chr 6:108,548,715...108,805,690 		JBrowse link
Junctional Epidermolysis Bullosa 2B, Severe term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAMA3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 2B, severe OMIM
ClinVar		 PMID:7633458 PMID:8530087 PMID:8586427 PMID:8618022 PMID:8824879 More... NCBI chr 6:108,548,818...108,805,700
Ensembl chr 6:108,548,715...108,805,690 		JBrowse link
Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAMA3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Laryngo-onycho-cutaneous syndrome OMIM
ClinVar		 PMID:7633458 PMID:8530087 PMID:8618022 PMID:8824879 PMID:8983017 More... NCBI chr 6:108,548,818...108,805,700
Ensembl chr 6:108,548,715...108,805,690 		JBrowse link
Junctional Epidermolysis Bullosa 3A, Intermediate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAMC2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3A, intermediate OMIM
ClinVar		 PMID:11564184 PMID:11810295 PMID:11907499 PMID:15538630 PMID:16199547 More... NCBI chr 9:124,427,545...124,499,672
Ensembl chr 9:124,435,807...124,495,351 		JBrowse link
Junctional Epidermolysis Bullosa 3B, Severe term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAMC2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3B, severe OMIM
ClinVar		 PMID:7849725 PMID:8012114 PMID:8012393 PMID:8012394 PMID:8824879 More... NCBI chr 9:124,427,545...124,499,672
Ensembl chr 9:124,435,807...124,495,351 		JBrowse link
Junctional Epidermolysis Bullosa 4, Intermediate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL17A1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: COL17A1-related condition | ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 4, intermediate OMIM
ClinVar		 PMID:7092249 PMID:7550320 PMID:8618019 PMID:9012408 PMID:9077475 More... NCBI chr14:114,959,404...115,007,734
Ensembl chr14:114,959,411...115,064,783 		JBrowse link
Junctional Epidermolysis Bullosa 5A, Intermediate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GALK1 galactokinase 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 5A, intermediate ClinVar PMID:9536098 PMID:9546354 PMID:9892956 PMID:11328943 PMID:12485428 More... NCBI chr12:5,642,012...5,651,186
Ensembl chr12:5,642,025...5,651,183 		JBrowse link
G ITGB4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 5A, intermediate OMIM
ClinVar		 PMID:9536098 PMID:9546354 PMID:9892956 PMID:10792571 PMID:11328943 More... NCBI chr12:5,651,292...5,685,601
Ensembl chr12:5,651,292...5,685,611 		JBrowse link
Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITGA3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 7, WITH INTERSTITIAL LUNG DISEASE AND NEPHROTIC SYNDROME | ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital OMIM
ClinVar		 PMID:22512483 PMID:24088041 PMID:25741868 PMID:25810266 PMID:26633545 More... NCBI chr12:26,234,769...26,269,327
Ensembl chr12:26,235,258...26,269,324 		JBrowse link
junctional epidermolysis bullosa Herlitz type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITGA6 integrin subunit alpha 6 ISO OMIM:226700 MouseDO NCBI chr15:78,504,108...78,591,779
Ensembl chr15:78,504,078...78,591,777 		JBrowse link
G LAMA3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosa | ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz ClinVar PMID:7633458 PMID:8530087 PMID:8618022 PMID:8824879 PMID:8983017 More... NCBI chr 6:108,548,818...108,805,700
Ensembl chr 6:108,548,715...108,805,690 		JBrowse link
G LAMB3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosa | ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz ClinVar PMID:7550237 PMID:7698759 PMID:7706760 PMID:8362910 PMID:8541876 More... NCBI chr 9:133,298,009...133,351,162
Ensembl chr 9:133,311,834...133,351,197 		JBrowse link
G LAMC2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Herlitz-Pearson type epidermolysis bullosa | ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa | ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz ClinVar PMID:7849725 PMID:8012114 PMID:8012393 PMID:8012394 PMID:8824879 More... NCBI chr 9:124,427,545...124,499,672
Ensembl chr 9:124,435,807...124,495,351 		JBrowse link
junctional epidermolysis bullosa non-Herlitz type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL17A1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type ClinVar PMID:9077475 PMID:9204958 PMID:9536098 PMID:9583744 PMID:10636730 More... NCBI chr14:114,959,404...115,007,734
Ensembl chr14:114,959,411...115,064,783 		JBrowse link
G GALK1 galactokinase 1 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type ClinVar PMID:25741868 PMID:28492532 NCBI chr12:5,642,012...5,651,186
Ensembl chr12:5,642,025...5,651,183 		JBrowse link
G ITGB4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type ClinVar PMID:25741868 PMID:28492532 NCBI chr12:5,651,292...5,685,601
Ensembl chr12:5,651,292...5,685,611 		JBrowse link
G LAMA3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis, disentis type | ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type ClinVar PMID:10366601 PMID:11810295 PMID:12915477 PMID:16473856 PMID:17362460 More... NCBI chr 6:108,548,818...108,805,700
Ensembl chr 6:108,548,715...108,805,690 		JBrowse link
G LAMB3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL | ClinVar Annotator: match by term: Epidermolysis bullosa junctionalis, disentis type | ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type		 ClinVar PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chr 9:133,298,009...133,351,162
Ensembl chr 9:133,311,834...133,351,197 		JBrowse link
G LAMC2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type ClinVar PMID:11564184 PMID:25741868 PMID:27375110 PMID:28492532 NCBI chr 9:124,427,545...124,499,672
Ensembl chr 9:124,435,807...124,495,351 		JBrowse link
junctional epidermolysis bullosa with pyloric atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GALK1 galactokinase 1 ISO ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia
ClinVar Annotator: match by term: ITGB4-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia		 ClinVar PMID:9536098 PMID:9792864 PMID:9892956 PMID:10484780 PMID:11328943 More... NCBI chr12:5,642,012...5,651,186
Ensembl chr12:5,642,025...5,651,183 		JBrowse link
G ITGA6 integrin subunit alpha 6 ISO ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 6, with pyloric atresia | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia OMIM
ClinVar		 PMID:9158140 PMID:9185503 PMID:9804362 PMID:14675179 PMID:23496044 More... NCBI chr15:78,504,108...78,591,779
Ensembl chr15:78,504,078...78,591,777 		JBrowse link
G ITGB4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: ITGB4-related condition | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia OMIM
ClinVar		 PMID:6177243 PMID:7545057 PMID:9536098 PMID:9546354 PMID:9674902 More... NCBI chr12:5,651,292...5,685,601
Ensembl chr12:5,651,292...5,685,611 		JBrowse link
G PLEC plectin ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA | ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:696,355...753,859
Ensembl chr 4:689,034...753,696 		JBrowse link
Keratoderma Palmoplantaris Transgrediens term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS ClinVar PMID:9843210 PMID:19050930 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,542 		JBrowse link
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C14H12orf43 chromosome 14 C12orf43 homolog ISO ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive ClinVar PMID:30561130 NCBI chr14:40,888,642...40,899,097
Ensembl chr14:40,886,053...40,899,037 		JBrowse link
G HNF1A HNF1 homeobox A ISO ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive ClinVar PMID:30561130 NCBI chr14:40,868,819...40,888,322
Ensembl chr14:40,868,676...40,888,328 		JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28017832 NCBI chr 7:55,840,612...55,865,045
Ensembl chr 7:55,840,607...55,865,716 		JBrowse link
Keratolytic Winter Erythema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTSB cathepsin B ISO ClinVar Annotator: match by term: Keratolytic winter erythema OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr14:15,014,139...15,035,081
Ensembl chr14:15,011,711...15,033,877 		JBrowse link
keratosis follicularis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANXA1 annexin A1 ISO RGD PMID:8919037 RGD:7421562 NCBI chr 1:226,414,200...226,431,963
Ensembl chr 1:226,414,306...226,432,279 		JBrowse link
G ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Keratosis follicularis OMIM
ClinVar		 PMID:10080178 PMID:10441323 PMID:10441324 PMID:10441325 PMID:11168576 More... NCBI chr14:31,674,659...31,744,981
Ensembl chr14:31,674,757...31,744,969 		JBrowse link
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMP proteasome maturation protein ISO ClinVar Annotator: match by term: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma OMIM
ClinVar		 PMID:20226437 PMID:22235297 PMID:25741868 PMID:27503413 PMID:28492532 More... NCBI chr11:5,953,691...5,968,447
Ensembl chr11:5,953,743...5,974,060 		JBrowse link
keratosis palmoplantaris striata 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL20A1 collagen type XX alpha 1 chain ISO ClinVar Annotator: match by term: Palmoplantar keratoderma i, striate, focal, or diffuse ClinVar PMID:29934816 NCBI chr17:62,395,383...62,419,054 JBrowse link
G DSG1 desmoglein 1 ISO ClinVar Annotator: match by term: DSG1-related condition | ClinVar Annotator: match by term: Keratoderma, palmoplantar striate form 1 | ClinVar Annotator: match by term: Palmoplantar keratoderma i, striate, focal, or diffuse OMIM
ClinVar		 PMID:7544663 PMID:10332028 PMID:11122035 PMID:11313759 PMID:15897387 More... NCBI chr 6:115,237,836...115,272,944
Ensembl chr 6:115,237,677...115,276,645 		JBrowse link
keratosis palmoplantaris striata 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin ISO ClinVar Annotator: match by term: Keratosis palmoplantaris striata 2 | ClinVar Annotator: match by term: Keratosis palmoplantaris striata II OMIM
ClinVar		 PMID:3198322 PMID:9536098 PMID:9887343 PMID:10594734 PMID:12101406 More... NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623 		JBrowse link
keratosis palmoplantaris striata 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT1 keratin 1 ISO ClinVar Annotator: match by term: Keratosis palmoplantaris striata 3 OMIM
ClinVar		 NCBI chr 5:18,012,922...18,018,582
Ensembl chr 5:18,012,925...18,018,582 		JBrowse link
Keratosis Palmoplantaris with Periodontopathia and Onychogryposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTSC cathepsin C ISO ClinVar Annotator: match by term: Haim-Munk syndrome OMIM
ClinVar		 PMID:1886537 PMID:9536098 PMID:10581027 PMID:10593994 PMID:10662807 More... NCBI chr 9:21,726,628...21,761,796
Ensembl chr 9:21,722,036...21,761,516 		JBrowse link
G GRM5 glutamate metabotropic receptor 5 ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chr 9:21,914,422...22,438,200
Ensembl chr 9:21,917,735...22,436,063 		JBrowse link
G TYR tyrosinase ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290 		JBrowse link
Kindler syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FERMT1 FERM domain containing kindlin 1 ISO ClinVar Annotator: match by term: FERMT1-related condition | ClinVar Annotator: match by term: Kindler syndrome OMIM
ClinVar		 PMID:12668616 PMID:12789646 PMID:14507403 PMID:14962093 PMID:15313809 More... NCBI chr17:15,080,585...15,137,947
Ensembl chr17:15,080,587...15,137,753 		JBrowse link
linear nevus sebaceous syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Linear nevus sebaceous | ClinVar Annotator: match by term: Linear nevus sebaceous syndrome | ClinVar Annotator: match by term: Organoid nevus phakomatosis OMIM
ClinVar		 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 More... NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Linear nevus sebaceous OMIM
ClinVar		 PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 More... NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Linear nevus sebaceous | ClinVar Annotator: match by term: Linear nevus sebaceous syndrome | ClinVar Annotator: match by term: Organoid nevus phakomatosis ClinVar PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 More... NCBI chr 2:303,836...323,701
Ensembl chr 2:304,430...323,699 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Linear nevus sebaceous OMIM
ClinVar		 PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227 		JBrowse link
linear skin defects with multiple congenital anomalies 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COX7B cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 2 OMIM
ClinVar		 PMID:9747372 PMID:23122588 PMID:25741868 PMID:28492532 NCBI chr  X:61,962,383...61,969,011
Ensembl chr  X:61,962,412...61,970,152 		JBrowse link
lipoid proteinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ECM1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Lipid proteinosis OMIM
ClinVar		 PMID:11929856 PMID:12472532 PMID:12603844 PMID:15327549 PMID:16172042 More... NCBI chr 4:98,615,776...98,633,081
Ensembl chr 4:98,615,778...98,621,836 		JBrowse link
Localized Epidermolysis Bullosa Simplex 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GALK1 galactokinase 1 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized ClinVar PMID:25741868 PMID:28492532 NCBI chr12:5,642,012...5,651,186
Ensembl chr12:5,642,025...5,651,183 		JBrowse link
G ITGB4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized ClinVar PMID:11328943 PMID:16473856 PMID:25741868 PMID:28492532 NCBI chr12:5,651,292...5,685,601
Ensembl chr12:5,651,292...5,685,611 		JBrowse link
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized ClinVar PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:9036937 More... NCBI chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
G LOC110255312 keratin, type I cytoskeletal 14 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C, localized OMIM
ClinVar		 PMID:7506606 PMID:7561171 PMID:9284105 PMID:11710919 PMID:17039244 More... NCBI chr12:21,074,965...21,079,393
Ensembl chr12:21,024,314...21,119,396 		JBrowse link
Localized Epidermolysis Bullosa Simplex 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT5 keratin 5 ISO ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, Weber-Cockayne type | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, localized | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 2C, localized, modifier of OMIM
ClinVar		 PMID:7520042 PMID:7537780 PMID:7688477 PMID:8807337 PMID:16098032 More... NCBI chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402 		JBrowse link
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RIN2 Ras and Rab interactor 2 ISO ClinVar Annotator: match by term: Macrocephaly, alopecia, cutis laxa, and scoliosis | ClinVar Annotator: match by term: RIN2-related condition | ClinVar Annotator: match by term: TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS OMIM
ClinVar		 PMID:19631308 PMID:20424861 PMID:20954239 PMID:24449201 PMID:25741868 More... NCBI chr17:27,941,333...28,058,150
Ensembl chr17:27,807,244...28,058,135 		JBrowse link
Marshall syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A1 collagen type XI alpha 1 chain susceptibility ISO ClinVar Annotator: match by term: Deafness, myopia, cataract, saddle nose-Marshall type | ClinVar Annotator: match by term: Marshall syndrome ClinVar
OMIM		 PMID:9129742 PMID:9529347 PMID:9536098 PMID:9792885 PMID:10486316 More... NCBI chr 4:115,638,381...115,841,679
Ensembl chr 4:115,634,172...115,840,708 		JBrowse link
G PCDH12 protocadherin 12 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:143,550,844...143,565,028
Ensembl chr 2:143,550,849...143,565,033 		JBrowse link
G RNF14 ring finger protein 14 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:143,574,901...143,595,601
Ensembl chr 2:143,551,274...143,595,592 		JBrowse link
G RNPC3 RNA binding region (RNP1, RRM) containing 3 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 NCBI chr 4:115,279,557...115,311,960
Ensembl chr 4:115,288,276...115,311,652 		JBrowse link
Marshall/Stickler Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Marshall/Stickler syndrome ClinVar PMID:1536174 PMID:10486316 NCBI chr 4:115,638,381...115,841,679
Ensembl chr 4:115,634,172...115,840,708 		JBrowse link
MEDNIK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP1S1 adaptor related protein complex 1 subunit sigma 1 ISO ClinVar Annotator: match by term: MEDNIK syndrome OMIM
ClinVar		 PMID:1905767 PMID:16199547 PMID:19057675 PMID:23423674 PMID:25741868 More... NCBI chr 3:8,880,993...8,887,806
Ensembl chr 3:8,881,107...8,887,566 		JBrowse link
mevalonic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRP C-reactive protein, pentraxin-related disease_progression ISO RGD PMID:7780142 RGD:9585642 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218 		JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12477733 NCBI chr 2:84,380,245...84,401,117
Ensembl chr 2:84,380,224...84,402,957 		JBrowse link
G MMAB metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Mevalonic aciduria ClinVar PMID:23707710 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:41,357,587...41,371,374
Ensembl chr14:41,357,637...41,373,205 		JBrowse link
G MVK mevalonate kinase ISO ClinVar Annotator: match by term: Hyperimmunoglobulinemia D | ClinVar Annotator: match by term: Mevalonic aciduria | ClinVar Annotator: match by term: Periodic fever Dutch type OMIM
ClinVar		 PMID:1377680 PMID:8386351 PMID:9334262 PMID:9536098 PMID:10369261 More... NCBI chr14:41,320,790...41,357,437
Ensembl chr14:41,281,673...41,357,368 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:7780142 RGD:9585642 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G UBE3B ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Mevalonic aciduria ClinVar PMID:28492532 NCBI chr14:41,383,238...41,442,752
Ensembl chr14:41,383,239...41,442,476 		JBrowse link
monilethrix term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100523123 keratin, type II cuticular Hb1 ISO ClinVar Annotator: match by term: Nodose hair OMIM
ClinVar		 PMID:15744029 PMID:25557232 PMID:25741868 PMID:28492532 NCBI chr 5:17,608,637...17,614,061 JBrowse link
G LOC106507258 keratin, type II cuticular Hb6 ISO ClinVar Annotator: match by term: Nodose hair OMIM
ClinVar		 PMID:7556444 PMID:9241275 PMID:9402962 PMID:9457912 PMID:9665406 More... NCBI chr 5:17,624,096...17,631,111 JBrowse link
Muckle-Wells syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1RN interleukin 1 receptor antagonist ISO RGD PMID:22146561 RGD:6906895
G NLRP3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar Annotator: match by term: UDA syndrome | ClinVar Annotator: match by term: Urticaria-deafness-amyloidosis syndrome OMIM
ClinVar		 PMID:49161 PMID:11687797 PMID:11992256 PMID:12032915 PMID:12355493 More... NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228 		JBrowse link
Muir-Torre syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FHIT fragile histidine triad diadenosine triphosphatase ISO OMIM:158320 MouseDO NCBI chr13:41,443,963...42,884,799
Ensembl chr13:41,443,965...42,392,817 		JBrowse link
G MLH1 mutL homolog 1 ISO ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas | ClinVar Annotator: match by term: Muir-Torré syndrome OMIM
ClinVar		 PMID:2414824 PMID:4063166 PMID:7705822 PMID:8198129 PMID:8571956 More... NCBI chr13:21,791,276...21,877,789
Ensembl chr13:21,791,203...21,877,757 		JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas | ClinVar Annotator: match by term: Muir-Torré syndrome OMIM
ClinVar		 PMID:6096739 PMID:7585065 PMID:7713503 PMID:8566964 PMID:8592341 More... NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585 		JBrowse link
multiple benign circumferential skin creases on limbs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBB tubulin beta class I ISO ClinVar Annotator: match by term: CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE | ClinVar Annotator: match by term: Kunze Riehm syndrome ClinVar PMID:23246003 PMID:24833723 PMID:25741868 PMID:26637975 PMID:29671837 More... NCBI chr 7:23,247,827...23,252,240
Ensembl chr 7:23,247,850...23,252,233 		JBrowse link
Naegeli-Franceschetti-Jadassohn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC110255312 keratin, type I cytoskeletal 14 ISO ClinVar Annotator: match by term: NFJ syndrome | ClinVar Annotator: match by term: Naegeli-Franceschetti-Jadassohn syndrome OMIM
ClinVar		 PMID:8496458 PMID:13141721 PMID:25741868 PMID:28492532 NCBI chr12:21,074,965...21,079,393
Ensembl chr12:21,024,314...21,119,396 		JBrowse link
Naxos disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JUP junction plakoglobin ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES | ClinVar Annotator: match by term: Naxos disease
ClinVar Annotator: match by term: CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES | ClinVar Annotator: match by term: Naxos disease | ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR		 OMIM
ClinVar		 PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:17576681 More... NCBI chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,210 		JBrowse link
Netherton syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GBA1 glucosylceramidase beta 1 severity ISO protein:decreased expression:epidermis stratum corneum RGD PMID:16601670 RGD:5508433 NCBI chr 4:94,583,905...94,606,689
Ensembl chr 4:94,584,134...94,609,745 		JBrowse link
G SPINK5 serine peptidase inhibitor Kazal type 5 ISO ClinVar Annotator: match by term: COMEL-NETHERTON SYNDROME | ClinVar Annotator: match by term: Ichthyosis linearis circumflexa | ClinVar Annotator: match by term: Netherton disease | ClinVar Annotator: match by term: Netherton syndrome OMIM
ClinVar		 PMID:9536098 PMID:10835624 PMID:11511292 PMID:11544479 PMID:11841556 More... NCBI chr 2:149,309,482...149,382,286
Ensembl chr 2:149,309,540...149,382,282 		JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20657595 NCBI chr 9:56,888,246...56,929,771
Ensembl chr 9:56,888,246...56,929,767 		JBrowse link
Neurocutaneous Melanosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Neurocutaneous melanosis syndrome OMIM
ClinVar		 PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227 		JBrowse link
Neurocutaneous Syndromes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 ISO DNA:missense mutation;exon:2350C>T(p.H784Y)(human) RGD PMID:18478038 RGD:13439711 NCBI chr14:107,174,062...107,221,373
Ensembl chr14:107,170,689...107,221,215 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease ISO DNA:missense mutation:cds:W210C (human) RGD PMID:15574463 RGD:2317722 NCBI chr 9:26,572,352...26,634,596
Ensembl chr 9:26,572,361...26,634,567 		JBrowse link
G RHOA ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570889 NCBI chr13:31,918,484...31,991,207
Ensembl chr13:31,918,834...31,986,607 		JBrowse link
neurofibromatosis 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: Neurofibromatosis | ClinVar Annotator: match by term: Neurofibromatosis type 6 ClinVar PMID:9150739 PMID:9180088 PMID:10678181 PMID:10712197 PMID:14722917 More... NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Neurofibromatosis ClinVar PMID:17704776 PMID:24469042 PMID:25741868 PMID:28492532 NCBI chr 1:132,903,103...133,016,725
Ensembl chr 1:132,902,304...133,015,742 		JBrowse link
neurofibromatosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD15 abhydrolase domain containing 15 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr12:45,752,848...45,761,850
Ensembl chr12:45,755,559...45,761,878 		JBrowse link
G ADAP2 ArfGAP with dual PH domains 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr12:42,817,683...42,864,594
Ensembl chr12:42,817,669...42,849,922 		JBrowse link
G ANKRD13B ankyrin repeat domain 13B ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr12:45,787,661...45,806,003
Ensembl chr12:45,787,684...45,805,999 		JBrowse link
G ATAD5 ATPase family AAA domain containing 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr12:42,874,705...42,920,438
Ensembl chr12:42,874,599...42,920,399 		JBrowse link
G BLMH bleomycin hydrolase ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr12:46,342,502...46,393,642
Ensembl chr12:46,342,503...46,393,484 		JBrowse link
G CORO6 coronin 6 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr12:45,806,007...45,814,594
Ensembl chr12:45,806,004...45,814,574 		JBrowse link
G CPD carboxypeptidase D ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr12:46,462,203...46,533,032
Ensembl chr12:46,462,265...46,533,022 		JBrowse link
G CRLF3 cytokine receptor like factor 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr12:42,933,417...42,991,395
Ensembl chr12:42,933,445...42,976,348 		JBrowse link
G CRYBA1 crystallin beta A1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr12:45,466,051...45,473,110
Ensembl chr12:45,466,520...45,473,092 		JBrowse link
G EFCAB5 EF-hand calcium binding domain 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr12:46,085,215...46,204,806
Ensembl chr12:46,085,521...46,205,060 		JBrowse link
G EVI2A ecotropic viral integration site 2A ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:1568247 PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 More... NCBI chr12:43,543,020...43,548,586
Ensembl chr12:43,543,214...43,549,498 		JBrowse link
G EVI2B ecotropic viral integration site 2B ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:1568247 PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 More... NCBI chr12:43,553,891...43,561,759
Ensembl chr12:43,553,898...43,561,755 		JBrowse link
G GABBR1 gamma-aminobutyric acid type B receptor subunit 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:25741868 NCBI chr 7:22,547,938...22,577,639
Ensembl chr 7:22,540,381...22,578,619 		JBrowse link
G GIT1 GIT ArfGAP 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr12:45,768,172...45,783,652
Ensembl chr12:45,768,176...45,783,658 		JBrowse link
G GOSR1 golgi SNAP receptor complex member 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr12:46,541,124...46,597,075
Ensembl chr12:46,541,229...46,597,071 		JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Peripheral type neurofibromatosis | ClinVar Annotator: match by term: Von Recklinghausen disease
ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Von Recklinghausen disease		 OMIM
ClinVar		 PMID:190611 PMID:1071297 PMID:1302608 PMID:1370276 PMID:1483690 More... NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar NCBI chr14:46,653,869...46,726,421
Ensembl chr14:46,653,900...46,731,999 		JBrowse link
G NSRP1 nuclear speckle splicing regulatory protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr12:46,211,202...46,271,509
Ensembl chr12:46,211,256...46,271,345 		JBrowse link
G NUFIP2 nuclear FMR1 interacting protein 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr12:45,473,687...45,506,587
Ensembl chr12:45,473,685...45,506,581 		JBrowse link
G RNF135 ring finger protein 135 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr12:42,793,755...42,808,937
Ensembl chr12:42,795,409...42,808,897 		JBrowse link
G SLC6A4 solute carrier family 6 member 4 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr12:46,285,995...46,328,377
Ensembl chr12:46,285,997...46,314,378 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17704776 NCBI chr 1:132,903,103...133,016,725
Ensembl chr 1:132,902,304...133,015,742 		JBrowse link
G SSH2 slingshot protein phosphatase 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr12:45,818,103...46,085,720
Ensembl chr12:45,823,002...46,015,446 		JBrowse link
G TAOK1 TAO kinase 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr12:45,597,067...45,750,117
Ensembl chr12:45,597,072...45,744,356 		JBrowse link
G TEFM transcription elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr12:42,864,582...42,875,705
Ensembl chr12:42,864,612...43,047,444 		JBrowse link
G TMIGD1 transmembrane and immunoglobulin domain containing 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr12:46,411,943...46,429,996
Ensembl chr12:46,411,946...46,430,007 		JBrowse link
G TP53I13 tumor protein p53 inducible protein 13 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:10712197 PMID:23913538 PMID:28492532 NCBI chr12:45,763,680...45,767,755
Ensembl chr12:45,763,614...45,768,156 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO mRNA,protein:increased expression:dermis RGD PMID:12930297 RGD:8547970 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		JBrowse link
neurofibromatosis-Noonan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:28492532 NCBI chr 2:74,626,739...74,651,352
Ensembl chr 2:74,626,783...74,651,348 		JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Neurofibromatosis with Noonan phenotype | ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome OMIM
ClinVar		 PMID:190611 PMID:1568246 PMID:1757093 PMID:1783401 PMID:2114220 More... NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:22465605 PMID:28074573 PMID:28492532 NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:132,903,103...133,016,725
Ensembl chr 1:132,902,304...133,015,742 		JBrowse link
Neutral Lipid Storage Disease with Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPLA2 patatin like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Neutral lipid storage disease without ichthyosis OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:35460704 NCBI chr 2:513,065...517,962
Ensembl chr 2:513,077...518,182 		JBrowse link
nonepidermolytic palmoplantar keratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT1 keratin 1 ISO ClinVar Annotator: match by term: Diffuse nonepidermolytic palmoplantar keratoderma | ClinVar Annotator: match by term: Nonepidermolytic palmoplantar hyperkeratosis OMIM
ClinVar		 PMID:19470048 PMID:25741868 PMID:28492532 NCBI chr 5:18,012,922...18,018,582
Ensembl chr 5:18,012,925...18,018,582 		JBrowse link
nonphotosensitive trichothiodystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPLKIP M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 4, nonphotosensitive OMIM
ClinVar		 PMID:1634754 PMID:2333887 PMID:4847854 PMID:5645693 PMID:15645389 More... NCBI chr18:54,283,315...54,285,823
Ensembl chr18:54,283,325...54,285,820 		JBrowse link
nonphotosensitive trichothiodystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Trichothiodystrophy 5, nonphotosensitive ClinVar PMID:25741868 NCBI chr  X:98,219,717...98,223,873
Ensembl chr  X:98,219,988...98,223,868 		JBrowse link
G RNF113A ring finger protein 113A ISO ClinVar Annotator: match by term: RNF113A-related condition | ClinVar Annotator: match by term: Trichothiodystrophy 5, nonphotosensitive OMIM
ClinVar		 PMID:25612912 PMID:25741868 PMID:28492532 PMID:29144457 PMID:31793730 More... NCBI chr  X:98,218,689...98,219,931
Ensembl chr  X:98,218,565...98,219,773 		JBrowse link
nonphotosensitive trichothiodystrophy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GTF2E2 general transcription factor IIE subunit 2 ISO ClinVar Annotator: match by term: Trichothiodystrophy 6, nonphotosensitive OMIM
ClinVar		 PMID:25741868 PMID:26996949 PMID:28492532 NCBI chr15:54,444,480...54,525,566
Ensembl chr15:54,444,470...54,531,213 		JBrowse link
nonphotosensitive trichothiodystrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TARS1 threonyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Trichothiodystrophy 7, nonphotosensitive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31374204 NCBI chr16:19,455,294...19,486,735
Ensembl chr16:19,455,092...19,486,732 		JBrowse link
Nonphotosensitive Trichothiodystrophy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Trichothiodystrophy 8, nonphotosensitive OMIM
ClinVar		 PMID:6492094 PMID:25741868 PMID:28492532 PMID:33909043 NCBI chr 6:13,298,336...13,321,423
Ensembl chr 6:13,298,330...13,321,383 		JBrowse link
Nonphotosensitive Trichothiodystrophy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MARS1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Trichothiodystrophy 9, nonphotosensitive OMIM
ClinVar		 PMID:28492532 PMID:33909043 NCBI chr 5:22,752,405...22,785,509
Ensembl chr 5:22,752,374...22,785,501 		JBrowse link
nonsyndromic aplasia cutis congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMS1 BMS1 ribosome biogenesis factor ISO OMIM NCBI chr14:61,056,075...61,125,984
Ensembl chr14:61,087,670...61,125,980 		JBrowse link
Nonsyndromic Oculocutaneous Albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OCA2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism ClinVar PMID:7874125 PMID:8302318 PMID:10649493 PMID:12876664 PMID:18463683 More... NCBI chr15:56,657,648...56,869,920
Ensembl chr15:56,657,616...56,869,918 		JBrowse link
G SLC45A2 solute carrier family 45 member 2 ISO ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism ClinVar PMID:18821858 PMID:25741868 PMID:28266639 PMID:28492532 PMID:30868578 NCBI chr16:19,958,315...20,002,198
Ensembl chr16:19,956,366...20,023,289 		JBrowse link
G TYR tyrosinase ISO ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism ClinVar PMID:1429711 PMID:1642278 PMID:1899321 PMID:1903591 PMID:1943686 More... NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290 		JBrowse link
G TYRP1 tyrosinase related protein 1 ISO ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism ClinVar PMID:16704458 PMID:21739261 PMID:25741868 PMID:28266639 PMID:28492532 NCBI chr 1:209,725,698...209,745,141
Ensembl chr 1:209,725,638...209,745,705 		JBrowse link
occipital horn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Cutis laxa, X-linked | ClinVar Annotator: match by term: EDS IX | ClinVar Annotator: match by term: Occipital horn syndrome OMIM
ClinVar		 PMID:7842019 PMID:8149649 PMID:8981948 PMID:9246006 PMID:10319589 More... NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,991...62,110,048 		JBrowse link
ocular albinism 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP3D1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 NCBI chr 2:76,428,443...76,471,266
Ensembl chr 2:76,428,476...76,471,257 		JBrowse link
G GPR143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: GPR143-related condition | ClinVar Annotator: match by term: Ocular albinism, type I OMIM
ClinVar		 PMID:1427786 PMID:1652548 PMID:5125647 PMID:7647783 PMID:8400292 More... NCBI chr  X:6,242,296...6,276,654
NCBI chr  Y:4,669,764...4,704,304 		JBrowse link
G NR2E3 nuclear receptor subfamily 2 group E member 3 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:10655056 PMID:15459973 PMID:16199547 PMID:18294254 PMID:19273793 More... NCBI chr 1:169,358,662...169,373,175
Ensembl chr 1:169,360,729...169,366,087 		JBrowse link
G SLC24A5 solute carrier family 24 member 5 ISO OMIM:300500 MouseDO NCBI chr 1:123,635,077...123,657,205
Ensembl chr 1:123,635,043...123,656,736 		JBrowse link
G TYR tyrosinase ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:9163730 PMID:13680365 PMID:15381243 PMID:18326704 PMID:18463683 More... NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290 		JBrowse link
G TYRP1 tyrosinase related protein 1 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:209,725,698...209,745,141
Ensembl chr 1:209,725,638...209,745,705 		JBrowse link
ocular albinism with sensorineural deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MITF melanocyte inducing transcription factor ISO OMIM:103470 MouseDO NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,093 		JBrowse link
G PAX3 paired box 3 ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:25741868 NCBI chr15:124,093,803...124,193,041
Ensembl chr15:124,094,295...124,193,011 		JBrowse link
G TYR tyrosinase ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:1429711 PMID:1642278 PMID:1903591 PMID:5516239 PMID:7704033 More... NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290 		JBrowse link
oculocutaneous albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMACR alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Oculocutaneous albinism ClinVar PMID:25741868 PMID:28492532 NCBI chr16:20,005,741...20,023,339
Ensembl chr16:19,956,366...20,023,289 		JBrowse link
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 ISO associated with Hermanski-Pudlak Syndrome;DNA:mutations:multiple: RGD PMID:16185271 RGD:11354899 NCBI chr14:109,730,597...109,755,288
Ensembl chr14:109,730,598...109,751,985 		JBrowse link
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Oculocutaneous albinism ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:44,041,684...44,073,661
Ensembl chr14:44,049,707...44,073,621 		JBrowse link
G MITF melanocyte inducing transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9158138 NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,093 		JBrowse link
G MYEF2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Oculocutaneous albinism ClinVar PMID:16199547 PMID:23985994 PMID:24033266 PMID:26686029 PMID:28492532 NCBI chr 1:123,582,836...123,642,879
Ensembl chr 1:123,600,908...123,638,236 		JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Oculocutaneous albinism ClinVar PMID:7874125 PMID:8302318 PMID:9259203 PMID:10987646 PMID:12876664 More... NCBI chr15:56,657,648...56,869,920
Ensembl chr15:56,657,616...56,869,918 		JBrowse link
G SLC24A5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: Oculocutaneous albinism ClinVar PMID:16199547 PMID:23985994 PMID:24033266 PMID:26686029 PMID:28492532 NCBI chr 1:123,635,077...123,657,205
Ensembl chr 1:123,635,043...123,656,736 		JBrowse link
G SLC45A2 solute carrier family 45 member 2 ISO ClinVar Annotator: match by term: Oculocutaneous albinism ClinVar PMID:25741868 PMID:28492532 NCBI chr16:19,958,315...20,002,198
Ensembl chr16:19,956,366...20,023,289 		JBrowse link
G TYR tyrosinase treatment ISO ClinVar Annotator: match by term: Oculocutaneous albinism RGD
ClinVar		 PMID:1429711 PMID:1642278 PMID:1832718 PMID:1899321 PMID:1903591 More... RGD:8694345 NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290 		JBrowse link
G TYRP1 tyrosinase related protein 1 ISO ClinVar Annotator: match by term: Oculocutaneous albinism ClinVar NCBI chr 1:209,725,698...209,745,141
Ensembl chr 1:209,725,638...209,745,705 		JBrowse link
Oculocutaneous Albinism Type I, Temperature-Sensitive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TYR tyrosinase ISO ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE | ClinVar Annotator: match by term: TYR-related condition ClinVar PMID:666627 PMID:1429711 PMID:1642278 PMID:1676041 PMID:1711223 More... NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290 		JBrowse link
oculocutaneous albinism type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TYR tyrosinase treatment ISO ClinVar Annotator: match by term: Oculocutaneous albinism type 1 | ClinVar Annotator: match by term: Tyrosinase-negative oculocutaneous albinism RGD
ClinVar
OMIM		 PMID:666627 PMID:1429711 PMID:1642278 PMID:1676041 PMID:1711223 More... RGD:8694335 NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290 		JBrowse link
oculocutaneous albinism type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TYR tyrosinase ISO ClinVar Annotator: match by term: Oculocutaneous albinism type 1B | ClinVar Annotator: match by term: Yellow albinism OMIM
ClinVar		 PMID:666627 PMID:1429711 PMID:1642278 PMID:1676041 PMID:1711223 More... NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290 		JBrowse link
G ZDHHC15 zinc finger DHHC-type palmitoyltransferase 15 ISO ClinVar Annotator: match by term: Oculocutaneous albinism type 1B ClinVar PMID:25741868 NCBI chr  X:60,485,559...60,585,192
Ensembl chr  X:60,485,565...60,584,784 		JBrowse link
oculocutaneous albinism type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP5ME ATP synthase membrane subunit e ISO ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism ClinVar PMID:8394174 PMID:8595886 PMID:22334370 PMID:25741868 PMID:27588261 More... NCBI chr 8:112,092...113,526
Ensembl chr 8:110,605...113,510 		JBrowse link
G MC1R melanocortin 1 receptor ISO ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF | ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism OMIM
ClinVar		 PMID:7581459 PMID:9032047 PMID:9302268 PMID:9571181 PMID:9665397 More... NCBI chr 6:181,225...182,187
Ensembl chr 6:181,225...182,187 		JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: OCA2-related condition | ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism OMIM
ClinVar		 PMID:1773534 PMID:7762554 PMID:7874125 PMID:7920637 PMID:8302318 More... NCBI chr15:56,657,648...56,869,920
Ensembl chr15:56,657,616...56,869,918 		JBrowse link
G PDE6B phosphodiesterase 6B ISO ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism ClinVar PMID:8394174 PMID:8595886 PMID:22334370 PMID:25741868 PMID:27588261 More... NCBI chr 8:80,378...111,960
Ensembl chr 8:80,378...110,672 		JBrowse link
G TYRP1 tyrosinase related protein 1 ISO ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF ClinVar PMID:8651291 PMID:9345097 PMID:18680187 PMID:28492532 NCBI chr 1:209,725,698...209,745,141
Ensembl chr 1:209,725,638...209,745,705 		JBrowse link
oculocutaneous albinism type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TYRP1 tyrosinase related protein 1 ISO ClinVar Annotator: match by term: Oculocutaneous albinism type 3 | ClinVar Annotator: match by term: TYRP1-related condition OMIM
ClinVar		 PMID:8651291 PMID:9345097 PMID:9536098 PMID:15996218 PMID:16199547 More... NCBI chr 1:209,725,698...209,745,141
Ensembl chr 1:209,725,638...209,745,705 		JBrowse link
oculocutaneous albinism type IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MITF melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Oculocutaneous albinism type 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,093 		JBrowse link
G SLC45A2 solute carrier family 45 member 2 ISO ClinVar Annotator: match by term: Oculocutaneous albinism type 4 | ClinVar Annotator: match by term: SLC45A2-related condition OMIM
ClinVar		 PMID:11574907 PMID:14070830 PMID:14722913 PMID:14961451 PMID:15565285 More... NCBI chr16:19,958,315...20,002,198
Ensembl chr16:19,956,366...20,023,289 		JBrowse link
oculocutaneous albinism type VI term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYEF2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Albinism, oculocutaneous, type VI ClinVar PMID:23364476 PMID:23985994 PMID:25741868 PMID:26491832 PMID:26686029 More... NCBI chr 1:123,582,836...123,642,879
Ensembl chr 1:123,600,908...123,638,236 		JBrowse link
G SLC24A5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: Albinism, oculocutaneous, type VI OMIM
ClinVar		 PMID:23364476 PMID:23985994 PMID:25741868 PMID:26491832 PMID:26686029 More... NCBI chr 1:123,635,077...123,657,205
Ensembl chr 1:123,635,043...123,656,736 		JBrowse link
oculocutaneous albinism type VII term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRMDA leucine rich melanocyte differentiation associated ISO ClinVar Annotator: match by term: Oculocutaneous albinism type 7 OMIM
ClinVar		 PMID:23395477 PMID:25741868 PMID:26818737 PMID:28492532 PMID:29345414 More... NCBI chr14:77,957,833...79,051,540
Ensembl chr14:77,957,851...79,051,455 		JBrowse link
G WDR45 WD repeat domain 45 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:43,150,691...43,155,981
Ensembl chr  X:43,147,477...43,156,234 		JBrowse link
Oculocutaneous Albinism Type VIII term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCT dopachrome tautomerase ISO ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE VIII OMIM
ClinVar		 PMID:25741868 PMID:33100333 PMID:33959807 NCBI chr11:63,584,865...63,647,486
Ensembl chr11:63,584,869...63,678,344 		JBrowse link
oculoectodermal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLUAP1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome ClinVar PMID:26820066 NCBI chr 3:38,716,562...38,753,743
Ensembl chr 3:38,716,431...38,753,748 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Aplasia cutis congenita with epibulbar dermoids | ClinVar Annotator: match by term: OCULOECTODERMAL SYNDROME, SOMATIC | ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome OMIM
ClinVar		 PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:8456858 More... NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
G NLRP5 NLR family pyrin domain containing 5 ISO ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome ClinVar PMID:20738330 PMID:26323243 NCBI chr 6:60,375,670...60,418,908
Ensembl chr 6:60,379,623...60,409,465 		JBrowse link
Odontoonychodermal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Odontoonychodermal dysplasia OMIM
ClinVar		 PMID:2897600 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17847007 More... NCBI chr15:120,925,204...120,939,032
Ensembl chr15:120,925,499...120,938,430 		JBrowse link
Ohdo syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:57,150,884...57,174,367
Ensembl chr  X:57,150,919...57,175,333 		JBrowse link
Ohdo syndrome, SBBYS variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson variant of Ohdo Syndrome OMIM
ClinVar		 PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 More... NCBI chr14:77,390,790...77,597,674
Ensembl chr14:77,404,136...77,597,673 		JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:32694869 NCBI chr 1:219,624,773...219,815,438
Ensembl chr 1:219,573,535...219,815,421 		JBrowse link
G UBE3B ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:25741868 NCBI chr14:41,383,238...41,442,752
Ensembl chr14:41,383,239...41,442,476 		JBrowse link
Ohdo Syndrome, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE | ClinVar Annotator: match by term: Ohdo syndrome, X-linked OMIM
ClinVar		 PMID:8279489 PMID:10405444 PMID:16700052 PMID:17334363 PMID:17369503 More... NCBI chr  X:57,150,884...57,174,367
Ensembl chr  X:57,150,919...57,175,333 		JBrowse link
Olmsted Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PERP p53 apoptosis effector related to PMP22 ISO ClinVar Annotator: match by term: Olmsted syndrome 2 OMIM
ClinVar		 PMID:30321533 PMID:31361044 NCBI chr 1:26,301,254...26,317,046
Ensembl chr 1:26,301,252...26,317,868 		JBrowse link
orofacial cleft 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NECTIN1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Orofacial cleft 7 ClinVar PMID:10932188 PMID:11559849 NCBI chr 9:46,823,552...46,891,564
Ensembl chr 9:46,789,726...46,891,304 		JBrowse link
orofaciodigital syndrome IX term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCLT1 sodium channel and clathrin linker 1 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome IX ClinVar NCBI chr 8:95,949,460...96,199,116
Ensembl chr 8:95,949,572...96,199,110 		JBrowse link
G TBC1D32 TBC1 domain family member 32 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome IX ClinVar PMID:25741868 NCBI chr 1:41,057,782...41,265,416
Ensembl chr 1:41,057,838...41,265,375 		JBrowse link
otulipenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTULIN OTU deubiquitinase with linear linkage specificity susceptibility ISO ClinVar Annotator: match by term: Autoinflammation, panniculitis, and dermatosis syndrome | ClinVar Annotator: match by term: OTULIPENIA ClinVar
OMIM		 PMID:25741868 PMID:27523608 PMID:27559085 PMID:28492532 PMID:30796585 More... NCBI chr16:4,063,037...4,097,112
Ensembl chr16:4,063,071...4,093,198 		JBrowse link
pachyonychia congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT6A keratin 6A ISO ClinVar Annotator: match by term: PC-K6a ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:17,830,147...17,851,113
Ensembl chr 5:17,780,928...17,868,402 		JBrowse link
G LOC100737030 keratin, type I cytoskeletal 42 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:21,014,182...21,022,123 JBrowse link
Pachyonychia Congenita 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100737030 keratin, type I cytoskeletal 42 ISO ClinVar Annotator: match by term: Pachyonychia congenita 2 OMIM
ClinVar		 PMID:2248894 PMID:3954955 PMID:7529318 PMID:7539673 PMID:9008238 More... NCBI chr12:21,014,182...21,022,123 JBrowse link
Pachyonychia Congenita 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT6A keratin 6A ISO ClinVar Annotator: match by term: Pachyonychia congenita 3 OMIM
ClinVar		 PMID:11886499 PMID:16250206 PMID:17309457 PMID:21326300 PMID:22668561 More... NCBI chr 5:17,830,147...17,851,113
Ensembl chr 5:17,780,928...17,868,402 		JBrowse link
Palmoplantar Hyperkeratosis and True Hermaphroditism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RSPO1 R-spondin 1 ISO ClinVar Annotator: match by term: Palmoplantar hyperkeratosis and true hermaphroditism ClinVar PMID:18085567 NCBI chr 6:93,664,839...93,690,328
Ensembl chr 6:93,665,121...93,685,197 		JBrowse link
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RSPO1 R-spondin 1 ISO ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal OMIM
ClinVar		 PMID:16158431 PMID:17041600 PMID:25741868 PMID:28492532 NCBI chr 6:93,664,839...93,690,328
Ensembl chr 6:93,665,121...93,685,197 		JBrowse link
palmoplantar keratoderma and congenital alopecia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Autosomal dominant palmoplantar keratoderma and congenital alopecia OMIM
ClinVar		 PMID:12457340 PMID:15879313 PMID:25168385 PMID:25327171 PMID:25741868 More... NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156 		JBrowse link
PALMOPLANTAR KERATODERMA AND WOOLLY HAIR term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin ISO ClinVar Annotator: match by term: Palmoplantar keratoderma and woolly hair | ClinVar Annotator: match by term: Skin fragility woolly hair syndrome
ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome		 ClinVar PMID:2450378 PMID:3198322 PMID:9229116 PMID:9536098 PMID:10395892 More... NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623 		JBrowse link
G KANK2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma and woolly hair OMIM
ClinVar		 PMID:24671081 PMID:25741868 PMID:28492532 NCBI chr 2:69,896,116...69,925,194
Ensembl chr 2:69,896,120...69,924,919 		JBrowse link
G TUFT1 tuftelin 1 ISO ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome ClinVar PMID:36689522 NCBI chr 4:97,648,817...97,704,654
Ensembl chr 4:97,648,818...97,703,592 		JBrowse link
Palmoplantar Keratoderma, Nagashima Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPINB7 serpin family B member 7 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, Nagashima type | ClinVar Annotator: match by term: SERPINB7-related condition OMIM
ClinVar		 PMID:24207119 PMID:24514002 PMID:24773080 PMID:25741868 PMID:27543371 More... NCBI chr 1:157,953,872...157,999,242
Ensembl chr 1:157,953,877...157,998,842 		JBrowse link
Palmoplantar Keratoderma, Norrbotten Recessive Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC106504546 serpin A12 ISO ClinVar Annotator: match by term: Keratoderma, palmoplantar, Norrbotten recessive type ClinVar PMID:32247861 NCBI chr 7:115,720,892...115,734,810
Ensembl chr 7:115,721,098...115,734,978 		JBrowse link
palmoplantar keratoderma-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSG1 desmoglein 1 ISO ClinVar Annotator: match by term: Hereditary palmoplantar keratoderma ClinVar PMID:25741868 NCBI chr 6:115,237,836...115,272,944
Ensembl chr 6:115,237,677...115,276,645 		JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Keratoderma palmoplantar, with deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome OMIM
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome ClinVar PMID:127819 PMID:6213205 PMID:7219534 PMID:7987332 PMID:8019558 More... NCBI chr MT:6,511...8,055
Ensembl chr MT:6,511...8,055 		JBrowse link
palmoplantar keratoderma-esophageal carcinoma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RHBDF2 rhomboid 5 homolog 2 ISO ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER | ClinVar Annotator: match by term: Palmoplantar keratoderma-esophageal carcinoma syndrome | ClinVar Annotator: match by term: Tylosis with esophageal cancer OMIM
ClinVar		 PMID:8508402 PMID:13209063 PMID:22265016 PMID:22638770 PMID:25741868 More... NCBI chr12:5,008,534...5,036,278
Ensembl chr12:5,010,178...5,036,255 		JBrowse link
palmoplantar keratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAGAB alpha and gamma adaptin binding protein ISO ClinVar Annotator: match by term: Palmoplantar keratoderma ClinVar PMID:25741868 NCBI chr 1:165,123,006...165,193,002
Ensembl chr 1:165,127,994...165,192,924 		JBrowse link
G FAM83G family with sequence similarity 83 member G ISO Hyperkeratosis, palmoplantar, FAM83G-related OMIA PMID:10701186 PMID:12828257 PMID:24832243 PMID:26747202 PMID:29963719 More... NCBI chr12:60,296,749...60,322,653
Ensembl chr12:60,296,820...60,322,650 		JBrowse link
G GJA1 gap junction protein alpha 1 ISO DNA:mutation:cds:c.23G>A,p.G8V(human) RGD PMID:25168385 RGD:12910125 NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156 		JBrowse link
G GJB2 gap junction protein beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16172043 NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846 		JBrowse link
G JUP junction plakoglobin ISO Naxos disease, OMIM:601214 DNA:deletion:CDS:2157delTG RGD PMID:10902626 RGD:1600286 NCBI chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,210 		JBrowse link
G SASH1 SAM and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma ClinVar PMID:25315659 NCBI chr 1:17,306,364...17,663,117
Ensembl chr 1:17,306,373...17,511,672 		JBrowse link
G TUFT1 tuftelin 1 ISO MouseDO NCBI chr 4:97,648,817...97,704,654
Ensembl chr 4:97,648,818...97,703,592 		JBrowse link
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Palmoplantar keratoderma ClinVar PMID:24449199 PMID:28492532 NCBI chr15:120,925,204...120,939,032
Ensembl chr15:120,925,499...120,938,430 		JBrowse link
Papillon-Lefevre disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTSC cathepsin C ISO ClinVar Annotator: match by term: Keratosis palmoplantaris with periodontopathia | ClinVar Annotator: match by term: Papillon-Lefevre Disease | ClinVar Annotator: match by term: Papillon-Lefèvre syndrome OMIM
ClinVar		 PMID:10581027 PMID:10593994 PMID:10662807 PMID:10662808 PMID:11106356 More... NCBI chr 9:21,726,628...21,761,796
Ensembl chr 9:21,722,036...21,761,516 		JBrowse link
peeling skin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDSN corneodesmosin ISO ClinVar Annotator: match by term: KERATOLYSIS EXFOLIATIVA CONGENITA ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:23,520,142...23,524,372
Ensembl chr 7:23,520,142...23,524,372 		JBrowse link
G SERPINB8 serpin family B member 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:157,820,641...157,836,922
Ensembl chr 1:157,820,657...157,836,904 		JBrowse link
peeling skin syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C7H6orf15 chromosome 7 C6orf15 homolog ISO ClinVar Annotator: match by term: Peeling skin syndrome 1 ClinVar PMID:31690835 NCBI chr 7:23,515,637...23,516,912
Ensembl chr 7:23,515,637...23,516,912 		JBrowse link
G CDSN corneodesmosin ISO ClinVar Annotator: match by term: Peeling skin syndrome 1 OMIM
ClinVar		 PMID:2434123 PMID:20691404 PMID:21191406 PMID:22146835 PMID:23957618 More... NCBI chr 7:23,520,142...23,524,372
Ensembl chr 7:23,520,142...23,524,372 		JBrowse link
G TGM5 transglutaminase 5 ISO ClinVar Annotator: match by term: Peeling skin syndrome 1 ClinVar PMID:22622422 NCBI chr 1:128,191,647...128,217,249
Ensembl chr 1:128,191,630...128,217,656 		JBrowse link
peeling skin syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TGM5 transglutaminase 5 ISO ClinVar Annotator: match by term: Acral peeling skin syndrome | ClinVar Annotator: match by term: Peeling skin syndrome 2 OMIM
ClinVar		 PMID:16380904 PMID:19440220 PMID:20164844 PMID:21469335 PMID:22036214 More... NCBI chr 1:128,191,647...128,217,249
Ensembl chr 1:128,191,630...128,217,656 		JBrowse link
peeling skin syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHST8 carbohydrate sulfotransferase 8 ISO ClinVar Annotator: match by term: Peeling skin syndrome type A ClinVar PMID:22289416 PMID:25741868 PMID:28204496 PMID:28492532 NCBI chr 6:43,371,436...43,493,250
Ensembl chr 6:43,371,531...43,493,246 		JBrowse link
peeling skin syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT2 keratin 2 ISO ClinVar Annotator: match by term: Exfoliative ichthyosis ClinVar PMID:2004005 PMID:7521371 PMID:7524919 PMID:8077693 PMID:10233323 More... NCBI chr 5:17,984,316...17,992,092
Ensembl chr 5:17,984,316...17,992,092 		JBrowse link
G LOC396867 stefin A8 ISO ClinVar Annotator: match by term: Peeling skin syndrome 4 OMIM
ClinVar		 PMID:12890214 PMID:21944047 PMID:22066523 PMID:23534700 PMID:25400170 NCBI chr13:138,216,027...138,226,397
Ensembl chr13:138,181,723...138,236,860 		JBrowse link
peeling skin syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPINB8 serpin family B member 8 ISO ClinVar Annotator: match by term: Peeling skin syndrome 5 OMIM
ClinVar		 PMID:25741868 PMID:27476651 PMID:28492532 NCBI chr 1:157,820,641...157,836,922
Ensembl chr 1:157,820,657...157,836,904 		JBrowse link
peeling skin syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC110260322 uncharacterized LOC110260322 ISO ClinVar Annotator: match by term: Peeling skin syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:28884927 PMID:29505760 PMID:29758285 PMID:36403663 NCBI chr 4:96,992,602...96,997,794 JBrowse link
Periodic Fever, Menstrual Cycle-Dependent term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HTR1A 5-hydroxytryptamine receptor 1A ISO ClinVar Annotator: match by term: Menstrual cycle-dependent periodic fever OMIM
ClinVar		 PMID:21990073 PMID:25741868 NCBI chr16:42,479,812...42,484,365
Ensembl chr16:42,478,923...42,484,304 		JBrowse link
PFAPA Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOD2 nucleotide binding oligomerization domain containing 2 ISO DNA:mutations:cds RGD PMID:21914217 RGD:13204855 NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534 		JBrowse link
PHACE Association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: PHACES association ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 More... NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553 		JBrowse link
photosensitive trichothiodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS ClinVar PMID:7585650 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033 More... NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553 		JBrowse link
photosensitive trichothiodystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive OMIM
ClinVar		 PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9195225 More... NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553 		JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr18:54,283,315...54,285,823
Ensembl chr18:54,283,325...54,285,820 		JBrowse link
photosensitive trichothiodystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Trichothiodystrophy 2, photosensitive OMIM
ClinVar		 PMID:9012405 PMID:16947863 PMID:24728327 PMID:25741868 PMID:26556299 More... NCBI chr15:25,189,644...25,224,381
Ensembl chr15:25,189,663...25,228,066 		JBrowse link
photosensitive trichothiodystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GTF2H5 general transcription factor IIH subunit 5 ISO ClinVar Annotator: match by term: Trichothiodystrophy 3, photosensitive OMIM
ClinVar		 PMID:15220921 PMID:24986372 PMID:25620205 PMID:25741868 PMID:28492532 More... NCBI chr 1:8,928,280...8,935,030
Ensembl chr 1:8,917,240...8,934,983 		JBrowse link
piebaldism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI3 GLI family zinc finger 3 ISO RGD PMID:18397875 RGD:12738207 NCBI chr18:52,403,463...52,697,906
Ensembl chr18:52,404,072...52,697,900 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Piebaldism | ClinVar Annotator: match by term: Piebaldism with sensorineural deafness | ClinVar Annotator: match by term: Piebaldism, progressive OMIM
ClinVar		 PMID:338655 PMID:1370874 PMID:1376329 PMID:1384325 PMID:1717985 More... NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734 		JBrowse link
G SNAI2 snail family transcriptional repressor 2 susceptibility ISO DNA:deletions
ClinVar Annotator: match by term: Piebaldism		 RGD
ClinVar		 PMID:12444107 PMID:12955764 PMID:24033266 PMID:25741868 PMID:28492532 More... RGD:1600041 NCBI chr 4:79,264,880...79,268,475
Ensembl chr 4:79,264,880...79,268,475 		JBrowse link
PLACK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAST calpastatin ISO ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads OMIM
ClinVar		 PMID:3527073 PMID:25683118 PMID:25741868 PMID:28492532 NCBI chr 2:103,255,738...103,378,623
Ensembl chr 2:103,255,750...103,378,623 		JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 ISO ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads ClinVar PMID:3527073 PMID:25683118 NCBI chr 2:103,378,428...103,415,066
Ensembl chr 2:103,378,429...103,408,759 		JBrowse link
plasminogen deficiency type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLG plasminogen ISO ClinVar Annotator: match by term: Dysplasminogenemia | ClinVar Annotator: match by term: Plasminogen deficiency, type I OMIM
ClinVar		 PMID:659588 PMID:1427790 PMID:1986355 PMID:6216475 PMID:6238949 More... NCBI chr 1:7,062,399...7,109,521
Ensembl chr 1:7,061,192...7,110,555 		JBrowse link
poikiloderma with neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USB1 U6 snRNA biogenesis phosphodiesterase 1 ISO ClinVar Annotator: match by term: Poikiloderma with neutropenia OMIM
ClinVar		 PMID:11737690 PMID:16199547 PMID:18925663 PMID:20004881 PMID:20503306 More... NCBI chr 6:19,852,020...19,874,016
Ensembl chr 6:19,852,014...19,874,020 		JBrowse link
Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type ehlers-danlos syndrome OMIM
ClinVar		 PMID:2049575 PMID:2235526 PMID:7695699 PMID:8218237 PMID:9050868 More... NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363 		JBrowse link
porokeratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MVD mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: Linear porokeratosis ClinVar PMID:25741868 PMID:30942823 PMID:33005717 NCBI chr 6:1,008,100...1,014,303
Ensembl chr 6:1,008,100...1,014,303 		JBrowse link
G PMVK phosphomevalonate kinase ISO ClinVar Annotator: match by term: Linear porokeratosis ClinVar PMID:25741868 PMID:30942823 NCBI chr 4:94,861,500...94,913,743
Ensembl chr 4:94,861,712...94,874,771 		JBrowse link
Porokeratosis 1, Multiple Types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PMVK phosphomevalonate kinase ISO ClinVar Annotator: match by term: Porokeratosis 1, multiple types | ClinVar Annotator: match by term: Porokeratosis of Mibelli OMIM
ClinVar		 PMID:25741868 PMID:26202976 PMID:30942823 NCBI chr 4:94,861,500...94,913,743
Ensembl chr 4:94,861,712...94,874,771 		JBrowse link
Porokeratosis 3, Multiple Types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMAB metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: POROKERATOSIS 3, MULTIPLE TYPES | ClinVar Annotator: match by term: Porokeratosis, disseminated superficial actinic 1 ClinVar PMID:24033266 PMID:25741868 PMID:26202976 PMID:28492532 NCBI chr14:41,357,587...41,371,374
Ensembl chr14:41,357,637...41,373,205 		JBrowse link
G MVK mevalonate kinase ISO ClinVar Annotator: match by term: POROKERATOSIS 3, MULTIPLE TYPES | ClinVar Annotator: match by term: Porokeratosis, disseminated superficial actinic 1 OMIM
ClinVar		 PMID:1377680 PMID:8386351 PMID:9334262 PMID:9536098 PMID:10369261 More... NCBI chr14:41,320,790...41,357,437
Ensembl chr14:41,281,673...41,357,368 		JBrowse link
G SART3 spliceosome associated factor 3, U4/U6 recycling protein ISO ClinVar Annotator: match by term: Porokeratosis, disseminated superficial actinic 1 ClinVar PMID:15840095 PMID:17392836 NCBI chr14:42,223,752...42,259,992
Ensembl chr14:42,223,964...42,261,811 		JBrowse link
Porokeratosis 7, Multiple Types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MVD mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: Porokeratosis 7, multiple types OMIM
ClinVar		 PMID:21161278 PMID:25741868 PMID:26202976 NCBI chr 6:1,008,100...1,014,303
Ensembl chr 6:1,008,100...1,014,303 		JBrowse link
Porokeratosis 9, Multiple Types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FDPS farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: Porokeratosis 9, multiple types OMIM
ClinVar		 PMID:26202976 NCBI chr 4:94,500,140...94,514,820
Ensembl chr 4:94,500,141...94,518,408 		JBrowse link
Porokeratosis, Disseminated Superficial Actinic, 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC17A9 solute carrier family 17 member 9 ISO ClinVar Annotator: match by term: Porokeratosis 8, disseminated superficial actinic type OMIM
ClinVar		 PMID:25180256 PMID:25741868 NCBI chr17:62,186,114...62,200,091
Ensembl chr17:62,186,112...62,200,084 		JBrowse link
porphyria cutanea tarda term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALAD aminolevulinate dehydratase treatment ISO protein:decreased activity:blood, erythrocyte RGD PMID:526041 PMID:8100994 RGD:12904671 RGD:12904682 NCBI chr 1:254,015,426...254,027,584
Ensembl chr 1:254,012,850...254,027,508 		JBrowse link
G CPOX coproporphyrinogen oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11831056 NCBI chr13:160,332,436...160,345,862
Ensembl chr13:160,332,436...160,348,232 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO RGD PMID:14714565 RGD:11576310 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775 		JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:11153915 PMID:20957336 RGD:11576316 NCBI chr 7:58,779,529...58,786,155
Ensembl chr 7:58,779,475...58,786,100 		JBrowse link
G HFE homeostatic iron regulator no_association
susceptibility		 ISO DNA:missense mutations:cds:p.C282Y, p.H63D (human)
ClinVar Annotator: match by term: UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY		 RGD
ClinVar		 PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... RGD:8694347 RGD:8694367 NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,767,000 		JBrowse link
G UROD uroporphyrinogen decarboxylase ISO ClinVar Annotator: match by term: Familial porphyria cutanea tarda | ClinVar Annotator: match by term: Porphyria cutanea tarda | ClinVar Annotator: match by term: UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY OMIM
ClinVar		 PMID:1634232 PMID:2243121 PMID:2892774 PMID:2920211 PMID:3775362 More... NCBI chr 6:166,327,243...166,330,558
Ensembl chr 6:166,327,247...166,330,614 		JBrowse link
Porphyria Cutanea Tarda, Type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UROD uroporphyrinogen decarboxylase ISO ClinVar Annotator: match by term: Porphyria cutanea tarda, type I ClinVar PMID:8644733 PMID:25741868 PMID:28492532 NCBI chr 6:166,327,243...166,330,558
Ensembl chr 6:166,327,247...166,330,614 		JBrowse link
pretibial dystrophic epidermolysis bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Epidermolysis bullosa, pretibial, autosomal recessive | ClinVar Annotator: match by term: Pretibial dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: Pretibial epidermolysis bullosa OMIM
ClinVar		 PMID:7695699 PMID:7833933 PMID:7861014 PMID:8088783 PMID:8218237 More... NCBI chr13:31,262,750...31,295,112 JBrowse link
primary cutaneous amyloidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOE apolipoprotein E ISO protein:increased expression:skin: RGD PMID:9740234 RGD:7771598 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330 		JBrowse link
G IL31RA interleukin 31 receptor A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:34,987,399...35,071,367
Ensembl chr16:35,012,094...35,071,381 		JBrowse link
G OSMR oncostatin M receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:24,041,312...24,101,842
Ensembl chr16:24,041,567...24,102,177 		JBrowse link
primary localized cutaneous amyloidosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OSMR oncostatin M receptor ISO ClinVar Annotator: match by term: Amyloidosis, primary localized cutaneous, 1 OMIM
ClinVar		 PMID:18179886 PMID:19690585 NCBI chr16:24,041,312...24,101,842
Ensembl chr16:24,041,567...24,102,177 		JBrowse link
primary localized cutaneous amyloidosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL31RA interleukin 31 receptor A ISO ClinVar Annotator: match by term: Amyloidosis, primary localized cutaneous, 2 OMIM
ClinVar		 PMID:19690585 PMID:25741868 NCBI chr16:34,987,399...35,071,367
Ensembl chr16:35,012,094...35,071,381 		JBrowse link
primary localized cutaneous amyloidosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPNMB glycoprotein nmb ISO ClinVar Annotator: match by term: Amyloidosis, primary localized cutaneous, 3 OMIM
ClinVar		 PMID:19416385 PMID:25741868 PMID:25866143 PMID:28492532 PMID:29336782 NCBI chr 9:92,037,428...92,071,501
Ensembl chr 9:92,037,509...92,071,499 		JBrowse link
progressive osseous heteroplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637 		JBrowse link
G CTNNB1 catenin beta 1 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311 		JBrowse link
G GNAS GNAS complex locus ISO ClinVar Annotator: match by term: ECTOPIC OSSIFICATION, FAMILIAL | ClinVar Annotator: match by term: Progressive osseous heteroplasia OMIM
ClinVar		 PMID:1505964 PMID:2122458 PMID:8557265 PMID:8702665 PMID:9876352 More... NCBI chr17:58,985,580...59,053,022
Ensembl chr17:58,998,981...59,053,021 		JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr16:71,368,164...71,380,972
Ensembl chr16:71,357,586...71,381,161 		JBrowse link
G SPP1 secreted phosphoprotein 1 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340 		JBrowse link
prolidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PEPD peptidase D ISO ClinVar Annotator: match by term: PEPD-related condition | ClinVar Annotator: match by term: Prolidase deficiency OMIM
ClinVar		 PMID:1688567 PMID:1972707 PMID:2010534 PMID:2365824 PMID:6637477 More... NCBI chr 6:43,177,063...43,290,389
Ensembl chr 6:43,177,062...43,290,369 		JBrowse link
proteasome-associated autoinflammatory syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD16A abhydrolase domain containing 16A, phospholipase ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,800,932...23,814,920
Ensembl chr 7:23,800,936...23,814,947 		JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162 		JBrowse link
G AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:24,205,930...24,208,430
Ensembl chr 7:24,204,905...24,213,193 		JBrowse link
G AIF1 allograft inflammatory factor 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,711,752...23,731,191
Ensembl chr 7:23,726,787...23,731,671 		JBrowse link
G ANKS1A ankyrin repeat and sterile alpha motif domain containing 1A ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:30,812,925...30,995,369
Ensembl chr 7:30,812,920...30,995,360 		JBrowse link
G APOM apolipoprotein M ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,768,974...23,773,324
Ensembl chr 7:23,768,984...23,773,324 		JBrowse link
G ARMC12 armadillo repeat containing 12 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:31,583,544...31,601,790
Ensembl chr 7:31,586,797...31,603,600 		JBrowse link
G ATF6B activating transcription factor 6 beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:24,153,551...24,171,743
Ensembl chr 7:24,161,061...24,171,709 		JBrowse link
G ATP6V1G2 ATPase H+ transporting V1 subunit G2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,670,970...23,673,860
Ensembl chr 7:23,670,965...23,673,837 		JBrowse link
G B3GALT4 beta-1,3-galactosyltransferase 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:29,643,049...29,644,847
Ensembl chr 7:29,643,182...29,648,604 		JBrowse link
G BAG6 BAG cochaperone 6 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,756,897...23,768,659
Ensembl chr 7:23,756,899...23,775,892 		JBrowse link
G BAK1 BCL2 antagonist/killer 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:29,808,849...29,815,345 JBrowse link
G BLTP3A bridge-like lipid transfer protein family member 3A ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:30,731,466...30,799,958
Ensembl chr 7:30,731,461...30,802,735 		JBrowse link
G BNIP5 BCL2 interacting protein 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:32,034,424...32,054,644
Ensembl chr 7:32,035,342...32,054,632 		JBrowse link
G BRD2 bromodomain containing 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:25,096,579...25,162,591
Ensembl chr 7:25,152,043...25,162,578 		JBrowse link
G BRPF3 bromodomain and PHD finger containing 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:31,926,313...31,966,006
Ensembl chr 7:31,926,308...31,966,001 		JBrowse link
G BTNL2 butyrophilin like 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:24,789,988...24,809,920
Ensembl chr 7:24,790,614...24,807,432 		JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:24,020,590...24,034,042
Ensembl chr 7:23,995,982...24,033,930 		JBrowse link
G C4A complement C4A (Rodgers blood group) ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:24,068,019...24,083,060
Ensembl chr 7:24,068,019...24,083,061 		JBrowse link
G C7H6orf15 chromosome 7 C6orf15 homolog ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,515,637...23,516,912
Ensembl chr 7:23,515,637...23,516,912 		JBrowse link
G C7H6orf47 chromosome 7 C6orf47 homolog ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,773,897...23,775,346 JBrowse link
G C7H6orf89 chromosome 7 C6orf89 homolog ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:32,544,569...32,584,320
Ensembl chr 7:32,544,346...32,584,310 		JBrowse link
G CCHCR1 coiled-coil alpha-helical rod protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,543,919...23,558,150
Ensembl chr 7:23,544,121...23,558,052 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761 		JBrowse link
G CDSN corneodesmosin ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,520,142...23,524,372
Ensembl chr 7:23,520,142...23,524,372 		JBrowse link
G CFB complement factor B ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,033,740...24,041,179 		JBrowse link
G CLIC1 chloride intracellular channel 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,842,829...23,851,162 JBrowse link
G CLPS colipase ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:31,618,920...31,621,132
Ensembl chr 7:31,618,920...31,621,132 		JBrowse link
G CLPSL1 colipase like 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:31,612,223...31,617,407 JBrowse link
G CLPSL2 colipase like 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:31,605,362...31,607,931
Ensembl chr 7:31,605,336...31,608,102 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,497...25,234,888 		JBrowse link
G CPNE5 copine 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:32,396,735...32,510,242
Ensembl chr 7:32,409,688...32,508,380 		JBrowse link
G CSNK2B casein kinase 2 beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,781,194...23,787,914
Ensembl chr 7:23,780,362...23,788,678
Ensembl chr 7:23,780,362...23,788,678 		JBrowse link
G CUTA cutA divalent cation tolerance homolog ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:29,720,094...29,721,713
Ensembl chr 7:29,720,094...29,721,769 		JBrowse link
G CYP21A1 cytochrome P450 family 21 subfamily A member 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:24,086,138...24,089,364
Ensembl chr 7:24,086,218...24,089,370 		JBrowse link
G DAXX death domain associated protein ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:29,676,854...29,681,145
Ensembl chr 7:29,676,856...29,681,110 		JBrowse link
G DDAH2 DDAH family member 2, ADMA-independent ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,838,993...23,842,514
Ensembl chr 7:23,838,996...23,842,516 		JBrowse link
G DDR1 discoidin domain receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,371,358...23,391,585
Ensembl chr 7:23,373,845...23,391,584 		JBrowse link
G DDX39B DExD-box helicase 39B ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,658,089...23,669,095
Ensembl chr 7:23,658,088...23,670,031 		JBrowse link
G DEF6 DEF6 guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:31,191,788...31,216,436
Ensembl chr 7:31,193,858...31,216,414 		JBrowse link
G DXO decapping exoribonuclease ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:24,057,670...24,060,108
Ensembl chr 7:24,056,525...24,059,997 		JBrowse link
G EGFL8 EGF like domain multiple 8 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:24,201,129...24,205,133
Ensembl chr 7:24,201,632...24,204,971 		JBrowse link
G EHMT2 euchromatic histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,977,683...23,992,673
Ensembl chr 7:23,977,683...23,993,478 		JBrowse link
G ETV7 ETS variant transcription factor 7 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:32,087,422...32,109,966
Ensembl chr 7:32,087,430...32,108,187 		JBrowse link
G FKBP5 FKBP prolyl isomerase 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:31,441,764...31,550,704
Ensembl chr 7:31,440,842...31,567,487 		JBrowse link
G FKBPL FKBP prolyl isomerase like ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:24,172,227...24,174,553
Ensembl chr 7:24,172,238...24,173,405 		JBrowse link
G FLOT1 flotillin 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,253,157...23,265,165
Ensembl chr 7:23,253,162...23,265,106 		JBrowse link
G GPANK1 G-patch domain and ankyrin repeats 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,777,104...23,780,835
Ensembl chr 7:23,777,127...23,780,760 		JBrowse link
G GPSM3 G protein signaling modulator 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:24,227,572...24,229,785
Ensembl chr 7:24,227,576...24,229,797 		JBrowse link
G GRM4 glutamate metabotropic receptor 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:30,179,723...30,278,579
Ensembl chr 7:30,179,305...30,267,715 		JBrowse link
G GTF2H4 general transcription factor IIH subunit 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,398,414...23,404,268
Ensembl chr 7:23,398,445...23,404,524 		JBrowse link
G HMGA1 high mobility group AT-hook 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:30,320,090...30,329,413
Ensembl chr 7:30,320,410...30,329,408 		JBrowse link
G HSD17B8 hydroxysteroid 17-beta dehydrogenase 8 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:25,247,577...25,249,786
Ensembl chr 7:25,247,608...25,249,785 		JBrowse link
G HSPA1L heat shock protein family A (Hsp70) member 1 like ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,909,960...23,938,678
Ensembl chr 7:23,909,960...23,914,629 		JBrowse link
G IER3 immediate early response 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,265,560...23,266,905
Ensembl chr 7:23,265,564...23,266,827 		JBrowse link
G ILRUN inflammation and lipid regulator with UBA-like and NBR1-like domains ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:30,561,744...30,667,115
Ensembl chr 7:30,562,987...30,667,146 		JBrowse link
G IP6K3 inositol hexakisphosphate kinase 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:29,938,779...29,961,520
Ensembl chr 7:29,931,925...29,961,466 		JBrowse link
G ITPR3 inositol 1,4,5-trisphosphate receptor type 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:29,835,922...29,901,305
Ensembl chr 7:29,835,922...29,901,309 		JBrowse link
G KCTD20 potassium channel tetramerization domain containing 20 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:32,146,044...32,195,075
Ensembl chr 7:32,146,106...32,195,072 		JBrowse link
G KIFC1 kinesin family member C1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:29,692,775...29,713,716
Ensembl chr 7:29,694,778...29,713,712 		JBrowse link
G LEMD2 LEM domain nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:29,980,394...29,997,077
Ensembl chr 7:29,980,401...29,997,115 		JBrowse link
G LHFPL5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:31,624,050...31,642,269
Ensembl chr 7:31,624,450...31,642,268 		JBrowse link
G LOC100153163 MHC class I polypeptide-related sequence B ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,596,900...23,610,431 JBrowse link
G LOC100156657 uncharacterized LOC100156657 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:30,329,547...30,332,166
Ensembl chr 7:30,329,550...30,332,126 		JBrowse link
G LSM2 LSM2 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,900,385...23,908,523
Ensembl chr 7:23,900,395...23,908,490 		JBrowse link
G LST1 leukocyte specific transcript 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,705,491...23,712,987 JBrowse link
G LTA lymphotoxin alpha ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299 		JBrowse link
G LTB lymphotoxin beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,704,842...23,707,036
Ensembl chr 7:23,704,841...23,706,745 		JBrowse link
G LY6G5C lymphocyte antigen 6 family member G5C ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,791,160...23,795,967
Ensembl chr 7:23,791,198...23,795,734 		JBrowse link
G LY6G6C lymphocyte antigen 6 family member G6C ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,829,790...23,833,610
Ensembl chr 7:23,829,791...23,832,770 		JBrowse link
G LY6G6F lymphocyte antigen 6 family member G6F ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,815,682...23,823,306
Ensembl chr 7:23,817,640...23,822,382 		JBrowse link
G MAPK13 mitogen-activated protein kinase 13 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:31,880,643...31,889,586
Ensembl chr 7:31,880,638...31,889,455 		JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:31,791,398...31,861,544
Ensembl chr 7:31,790,877...31,862,031 		JBrowse link
G MCCD1 mitochondrial coiled-coil domain 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,656,623...23,658,099
Ensembl chr 7:23,656,704...23,658,273 		JBrowse link
G MLN motilin ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:30,003,501...30,013,064
Ensembl chr 7:30,003,526...30,013,064 		JBrowse link
G MPIG6B megakaryocyte and platelet inhibitory receptor G6b ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,834,650...23,836,784
Ensembl chr 7:23,834,930...23,838,593 		JBrowse link
G MSH5 mutS homolog 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,852,864...23,872,760
Ensembl chr 7:23,852,918...23,872,755 		JBrowse link
G MTCH1 mitochondrial carrier 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:32,617,426...32,635,575
Ensembl chr 7:32,617,426...32,635,575 		JBrowse link
G MUC21 mucin 21, cell surface associated ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,452,510...23,456,682 JBrowse link
G MUCL3 mucin like 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,429,415...23,440,523 JBrowse link
G NCR3 natural cytotoxicity triggering receptor 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,713,333...23,716,988 JBrowse link
G NELFE negative elongation factor complex member E ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:24,040,525...24,046,932
Ensembl chr 7:24,040,525...24,047,025 		JBrowse link
G NEU1 neuraminidase 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,953,721...23,958,659
Ensembl chr 7:23,947,061...23,958,666 		JBrowse link
G NFKBIL1 NFKB inhibitor like 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,673,002...23,685,089
Ensembl chr 7:23,669,595...23,685,087 		JBrowse link
G NOTCH4 notch receptor 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:24,231,293...24,256,281
Ensembl chr 7:24,231,293...24,256,281 		JBrowse link
G NUDT3 nudix hydrolase 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:30,343,253...30,422,019
Ensembl chr 7:30,343,256...30,422,080 		JBrowse link
G PACSIN1 protein kinase C and casein kinase substrate in neurons 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:30,459,851...30,512,736
Ensembl chr 7:30,492,589...30,512,739 		JBrowse link
G PBX2 PBX homeobox 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:24,221,565...24,226,940
Ensembl chr 7:24,221,565...24,226,940 		JBrowse link
G PFDN6 prefoldin subunit 6 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:29,653,569...29,654,957
Ensembl chr 7:29,653,679...29,654,945 		JBrowse link
G PHF1 PHD finger protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:29,714,295...29,719,996
Ensembl chr 7:29,714,293...29,719,987 		JBrowse link
G PI16 peptidase inhibitor 16 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:32,600,952...32,613,505
Ensembl chr 7:32,600,770...32,614,924 		JBrowse link
G PNPLA1 patatin like phospholipase domain containing 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:31,987,596...32,025,673
Ensembl chr 7:31,988,197...32,025,245 		JBrowse link
G POU5F1 POU class 5 homeobox 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,564,654...23,570,691 JBrowse link
G PPARD peroxisome proliferator activated receptor delta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:31,222,533...31,295,221
Ensembl chr 7:31,222,585...31,295,211 		JBrowse link
G PPIL1 peptidylprolyl isomerase like 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:32,522,736...32,547,874
Ensembl chr 7:32,522,733...32,547,839 		JBrowse link
G PPT2 palmitoyl-protein thioesterase 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:24,188,335...24,200,707
Ensembl chr 7:24,188,030...24,200,704 		JBrowse link
G PRRC2A proline rich coiled-coil 2A ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,742,302...23,755,950
Ensembl chr 7:23,740,144...23,756,066 		JBrowse link
G PRRT1 proline rich transmembrane protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:24,183,557...24,186,892
Ensembl chr 7:24,180,637...24,186,908 		JBrowse link
G PSMA3 proteasome 20S subunit alpha 3 ISO ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC ClinVar PMID:21953331 PMID:26524591 NCBI chr 1:187,342,231...187,371,149
Ensembl chr 1:187,343,507...187,372,193 		JBrowse link
G PSMB4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:26524591 NCBI chr 4:97,835,544...97,837,909
Ensembl chr 4:97,835,547...97,837,921 		JBrowse link
G PSMB8 proteasome 20S subunit beta 8 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 OMIM
ClinVar		 PMID:8495043 PMID:20159315 PMID:20534754 PMID:21129723 PMID:21881205 More... NCBI chr 7:25,058,456...25,061,666
Ensembl chr 7:25,058,465...25,062,245 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:25,072,133...25,077,508
Ensembl chr 7:25,062,367...25,077,523 		JBrowse link
G PSORS1C2 psoriasis susceptibility 1 candidate 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,540,341...23,543,136
Ensembl chr 7:23,540,374...23,542,112 		JBrowse link
G PXT1 peroxisomal testis enriched protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:32,110,388...32,125,833
Ensembl chr 7:32,109,962...32,125,098 		JBrowse link
G RAB44 RAB44, member RAS oncogene family ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:32,372,606...32,402,282
Ensembl chr 7:32,372,600...32,402,736 		JBrowse link
G RGL2 ral guanine nucleotide dissociation stimulator like 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:29,655,530...29,662,375
Ensembl chr 7:29,655,743...29,662,375 		JBrowse link
G RING1 ring finger protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:25,251,507...25,255,526
Ensembl chr 7:25,251,486...25,255,522 		JBrowse link
G RNF5 ring finger protein 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:24,215,493...24,217,983
Ensembl chr 7:24,215,704...24,217,971 		JBrowse link
G RPL10A ribosomal protein L10a ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:31,327,763...31,330,624
Ensembl chr 7:31,327,440...31,333,638 		JBrowse link
G RPS10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:30,435,146...30,442,791
Ensembl chr 7:30,435,150...30,442,886 		JBrowse link
G RPS18 ribosomal protein S18 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:29,638,856...29,642,912
Ensembl chr 7:29,638,833...29,642,912 		JBrowse link
G RXRB retinoid X receptor beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:25,236,005...25,242,842
Ensembl chr 7:25,236,007...25,242,875 		JBrowse link
G SCUBE3 signal peptide, CUB domain and EGF like domain containing 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:31,113,596...31,153,095
Ensembl chr 7:31,114,082...31,150,000 		JBrowse link
G SFTA2 surfactant associated 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,420,430...23,421,469
Ensembl chr 7:23,419,557...23,422,005 		JBrowse link
G SKIC2 SKI2 subunit of superkiller complex ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:24,047,000...24,057,621
Ensembl chr 7:24,047,010...24,057,621 		JBrowse link
G SLA-3 MHC class I antigen 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:22,938,211...22,942,735 JBrowse link
G SLA-DMA SLA-DM alpha chain ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:25,133,494...25,137,928
Ensembl chr 7:25,133,497...25,137,966 		JBrowse link
G SLA-DMB MHC class II, DM beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:25,119,278...25,125,089
Ensembl chr 7:25,119,139...25,128,236 		JBrowse link
G SLA-DOA major histocompatibility complex, class II, DO alpha ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:25,178,866...25,182,665
Ensembl chr 7:25,178,884...25,182,707 		JBrowse link
G SLA-DOB MHC class II, DO beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:25,030,435...25,038,196
Ensembl chr 7:25,030,444...25,037,932 		JBrowse link
G SLA-DQA1 MHC class II histocompatibility antigen SLA-DQA ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:24,953,472...24,959,313 JBrowse link
G SLA-DQB1 SLA-DQ beta1 domain ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:24,969,034...24,977,238
Ensembl chr 7:24,963,208...24,977,386 		JBrowse link
G SLA-DRA MHC class II DR-alpha ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:24,825,037...24,830,650
Ensembl chr 7:24,825,054...24,835,158 		JBrowse link
G SLA-DRB1 MHC class II histocompatibility antigen SLA-DRB1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:24,901,386...24,914,016
Ensembl chr 7:24,881,775...24,914,053 		JBrowse link
G SLC26A8 solute carrier family 26 member 8 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:31,722,409...31,791,620
Ensembl chr 7:31,722,103...31,791,802 		JBrowse link
G SLC39A7 solute carrier family 39 member 7 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:25,242,862...25,247,407
Ensembl chr 7:25,242,971...25,247,404 		JBrowse link
G SLC44A4 solute carrier family 44 member 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,958,935...23,977,466
Ensembl chr 7:23,958,942...23,977,482 		JBrowse link
G SNRPC small nuclear ribonucleoprotein polypeptide C ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:30,708,243...30,723,480
Ensembl chr 7:30,708,332...30,724,045 		JBrowse link
G SPDEF SAM pointed domain containing ETS transcription factor ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:30,515,925...30,538,095
Ensembl chr 7:30,515,925...30,524,470 		JBrowse link
G SRPK1 SRSF protein kinase 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:31,645,753...31,701,305
Ensembl chr 7:31,645,755...31,701,087 		JBrowse link
G SRSF3 serine and arginine rich splicing factor 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:32,289,464...32,298,652
Ensembl chr 7:32,289,480...32,298,580 		JBrowse link
G STK19 serine/threonine kinase 19 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:24,060,226...24,067,398
Ensembl chr 7:24,059,452...24,067,383 		JBrowse link
G STK38 serine/threonine kinase 38 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:32,206,532...32,253,673
Ensembl chr 7:32,206,541...32,253,624 		JBrowse link
G SYNGAP1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:29,723,745...29,752,351
Ensembl chr 7:29,723,588...29,753,933 		JBrowse link
G TAF11 TATA-box binding protein associated factor 11 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:30,799,992...30,811,771
Ensembl chr 7:30,799,965...30,811,768 		JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:25,062,772...25,071,989
Ensembl chr 7:25,062,771...25,074,843 		JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:25,045,085...25,056,915
Ensembl chr 7:25,045,685...25,056,300 		JBrowse link
G TAPBP TAP binding protein ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:29,663,491...29,673,453
Ensembl chr 7:29,663,495...29,673,634 		JBrowse link
G TCF19 transcription factor 19 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,558,326...23,562,074
Ensembl chr 7:23,558,384...23,562,069 		JBrowse link
G TCP11 t-complex 11 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:31,007,460...31,161,082
Ensembl chr 7:31,007,474...31,114,734 		JBrowse link
G TEAD3 TEA domain transcription factor 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:31,337,890...31,351,452
Ensembl chr 7:31,336,560...31,361,835 		JBrowse link
G TNF tumor necrosis factor ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G TNXB tenascin XB ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:24,088,873...24,155,815
Ensembl chr 7:24,088,873...24,150,596 		JBrowse link
G TSBP1 testis expressed basic protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:24,406,241...24,409,937 JBrowse link
G TULP1 TUB like protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:31,362,670...31,379,948
Ensembl chr 7:31,361,873...31,379,204 		JBrowse link
G UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:29,902,089...29,929,802
Ensembl chr 7:29,899,043...29,929,795 		JBrowse link
G VARS1 valyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,886,132...23,899,265
Ensembl chr 7:23,886,138...23,899,738 		JBrowse link
G VARS2 valyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,404,400...23,416,442
Ensembl chr 7:23,404,824...23,416,439 		JBrowse link
G VPS52 VPS52 subunit of GARP complex ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:29,624,224...29,639,168
Ensembl chr 7:29,624,230...29,639,140 		JBrowse link
G VWA7 von Willebrand factor A domain containing 7 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,874,900...23,885,551
Ensembl chr 7:23,874,901...23,885,994 		JBrowse link
G WDR46 WD repeat domain 46 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:29,645,128...29,653,567
Ensembl chr 7:29,645,130...29,653,579 		JBrowse link
G ZBTB12 zinc finger and BTB domain containing 12 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:23,993,849...23,999,134
Ensembl chr 7:23,994,530...23,996,980 		JBrowse link
G ZBTB22 zinc finger and BTB domain containing 22 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:29,673,006...29,676,614
Ensembl chr 7:29,673,027...29,675,593 		JBrowse link
G ZBTB9 zinc finger and BTB domain containing 9 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:29,754,729...29,757,568
Ensembl chr 7:29,754,725...29,757,565 		JBrowse link
G ZNF76 zinc finger protein 76 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 7:31,161,130...31,192,321
Ensembl chr 7:31,161,320...31,192,575 		JBrowse link
proteosome-associated autoinflammatory syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSMB8 proteasome 20S subunit beta 8 ISO ClinVar Annotator: match by term: Proteosome-associated autoinflammatory syndrome ClinVar PMID:16199547 PMID:20159315 PMID:20534754 PMID:21129723 PMID:21953331 More... NCBI chr 7:25,058,456...25,061,666
Ensembl chr 7:25,058,465...25,062,245 		JBrowse link
proteosome-associated autoinflammatory syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMP proteasome maturation protein ISO ClinVar Annotator: match by term: POMP-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr11:5,953,691...5,968,447
Ensembl chr11:5,953,743...5,974,060 		JBrowse link
proteosome-associated autoinflammatory syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSMB4 proteasome 20S subunit beta 4 ISO OMIM NCBI chr 4:97,835,544...97,837,909
Ensembl chr 4:97,835,547...97,837,921 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO OMIM NCBI chr 7:25,072,133...25,077,508
Ensembl chr 7:25,062,367...25,077,523 		JBrowse link
proteosome-associated autoinflammatory syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSMG2 proteasome assembly chaperone 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 4 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28492532 PMID:30664889 NCBI chr 6:96,879,009...96,893,551
Ensembl chr 6:96,878,139...96,893,474 		JBrowse link
proteosome-associated autoinflammatory syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSMB10 proteasome 20S subunit beta 10 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 5 OMIM
ClinVar		 PMID:25741868 PMID:31783057 NCBI chr 6:28,544,910...28,547,609
Ensembl chr 6:28,543,972...28,548,152 		JBrowse link
pseudoxanthoma elasticum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC1 ATP binding cassette subfamily C member 1 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr 3:28,360,868...28,472,940
Ensembl chr 3:28,360,873...28,473,456 		JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:9878557 PMID:15870973 PMID:25741868 PMID:28492532 PMID:29499989 NCBI chr14:110,955,698...111,038,898
Ensembl chr14:110,955,633...111,037,537 		JBrowse link
G ABCC6 ATP binding cassette subfamily C member 6 no_association
susceptibility		 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: Pseudoxanthoma Elasticum, Incomplete | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, forme fruste
DNA:SNPs:promoter:c.-127C>T, c.-132C>T (human)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More... RGD:11038786 RGD:737772 NCBI chr 3:28,260,935...28,356,706
Ensembl chr 3:28,261,282...28,356,646 		JBrowse link
G CAT catalase onset ISO DNA:polymorphism:promoter:c.-262C>T(rs1001179)(human) RGD PMID:17693525 RGD:8547520 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452 		JBrowse link
G CEP20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr 3:6,977,195...6,996,024
Ensembl chr 3:6,977,215...6,996,022 		JBrowse link
G ELN elastin ISO RGD PMID:1936214 PMID:7524808 RGD:9585748 RGD:9585763 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897 		JBrowse link
G GPX1 glutathione peroxidase 1 onset ISO DNA:polymorphism:cds:c.593C>T (rs1050450) RGD PMID:17693525 RGD:8547520 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO DNA:SNPs, haplotype:promoter:multiple RGD PMID:20541540 RGD:8657064 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:11439001 PMID:16541094 NCBI chr 3:7,002,667...7,143,093
Ensembl chr 3:7,002,735...7,143,095 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome ClinVar PMID:16541094 NCBI chr 3:7,145,094...7,174,691
Ensembl chr 3:7,125,936...7,180,623 		JBrowse link
G SOD2 superoxide dismutase 2 onset ISO DNA:polymorphism:cds:c.47C>T(rs4880)(human) RGD PMID:17693525 RGD:8547520 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		JBrowse link
G VEGFA vascular endothelial growth factor A susceptibility ISO DNA:haplotype: : RGD PMID:19483196 RGD:7483615 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		JBrowse link
G XYLT1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, modifier of severity of OMIM
ClinVar		 PMID:16571645 PMID:24581741 PMID:25741868 PMID:28085539 PMID:28492532 NCBI chr 3:27,158,438...27,492,629
Ensembl chr 3:27,158,878...27,492,762 		JBrowse link
G XYLT2 xylosyltransferase 2 ISO ClinVar Annotator: match by term: Gronblad Strandberg syndrome | ClinVar Annotator: match by term: Pseudoxanthoma elasticum, modifier of severity of OMIM
ClinVar		 PMID:16571645 PMID:25741868 PMID:28492532 NCBI chr12:26,640,802...26,656,809
Ensembl chr12:26,640,899...26,663,520 		JBrowse link
Pseudoxanthoma Elasticum, Heterozygous term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS ClinVar PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More... NCBI chr 3:28,260,935...28,356,706
Ensembl chr 3:28,261,282...28,356,646 		JBrowse link
Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GGCX gamma-glutamyl carboxylase ISO ClinVar Annotator: match by term: Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency OMIM
ClinVar		 PMID:9536098 PMID:9615107 PMID:17110937 PMID:17576681 PMID:18800149 More... NCBI chr 3:59,202,363...59,219,807
Ensembl chr 3:59,202,429...59,218,145 		JBrowse link
punctate palmoplantar keratoderma type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAGAB alpha and gamma adaptin binding protein ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, punctate type 1A OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23000146 PMID:23064416 PMID:23563198 More... NCBI chr 1:165,123,006...165,193,002
Ensembl chr 1:165,127,994...165,192,924 		JBrowse link
punctate palmoplantar keratoderma type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Punctate palmoplantar keratoderma type 2 ClinVar PMID:7545954 PMID:7894492 PMID:8531967 PMID:8644703 PMID:8833256 More... NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,854,668 		JBrowse link
rapadilino syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RECQL4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Radial and patellar hypoplasia | ClinVar Annotator: match by term: Rapadilino syndrome OMIM
ClinVar		 PMID:9878247 PMID:10319867 PMID:10678659 PMID:12734318 PMID:12838562 More... NCBI chr 4:287,206...293,629
Ensembl chr 4:287,214...293,913 		JBrowse link
Rapp-Hodgkin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with cleft lip/palate OMIM
ClinVar		 PMID:9536098 PMID:10535733 PMID:10839977 PMID:10886756 PMID:11462173 More... NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,105...127,347,068 		JBrowse link
recessive dystrophic epidermolysis bullosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive | ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa ClinVar PMID:1050445 PMID:7577595 PMID:7695699 PMID:7833933 PMID:7883979 More... NCBI chr13:31,262,750...31,295,112 JBrowse link
G GRIP1 glutamate receptor interacting protein 1 ISO OMIM:226600 MouseDO NCBI chr 5:30,697,018...31,175,412
Ensembl chr 5:30,697,040...31,020,901 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076 		JBrowse link
Reticular Erythrokeratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT1 keratin 1 ISO ClinVar Annotator: match by term: Congenital reticular ichthyosiform erythroderma ClinVar PMID:25774499 NCBI chr 5:18,012,922...18,018,582
Ensembl chr 5:18,012,925...18,018,582 		JBrowse link
G KRT10 keratin 10 ISO ClinVar Annotator: match by term: Congenital reticular ichthyosiform erythroderma | ClinVar Annotator: match by term: ICHTHYOSIS WITH CONFETTI OMIM
ClinVar		 PMID:1381287 PMID:7508181 PMID:7509230 PMID:7512983 PMID:9418775 More... NCBI chr12:21,641,263...21,645,642
Ensembl chr12:21,641,271...21,646,377 		JBrowse link
reticulate acropigmentation of Kitamura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM10 ADAM metallopeptidase domain 10 susceptibility ISO ClinVar Annotator: match by term: Reticulate acropigmentation of Kitamura ClinVar
OMIM		 PMID:23666529 PMID:25741868 PMID:28492532 NCBI chr 1:113,289,480...113,407,940
Ensembl chr 1:113,289,209...113,412,798 		JBrowse link
Revesz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TGM1 transglutaminase 1 ISO ClinVar Annotator: match by term: Revesz syndrome ClinVar PMID:18669893 PMID:20301779 PMID:21199492 PMID:22211879 PMID:25741868 More... NCBI chr 7:75,030,123...75,045,157
Ensembl chr 7:75,029,923...75,047,300 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Revesz syndrome | ClinVar Annotator: match by term: TINF2-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18252230 PMID:18669893 PMID:18979121 More... NCBI chr 7:75,056,790...75,067,895
Ensembl chr 7:75,056,798...75,063,979 		JBrowse link
Rothmund-Thomson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNA2 DNA replication helicase/nuclease 2 ISO ClinVar Annotator: match by term: Rothmund-Thomson syndrome ClinVar PMID:25741868 NCBI chr14:71,550,405...71,607,067
Ensembl chr14:71,552,121...71,610,740 		JBrowse link
G RECQL4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Poikiloderma of Rothmund-Thomson | ClinVar Annotator: match by term: Rothmund-Thomson syndrome ClinVar PMID:10319867 PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 More... NCBI chr 4:287,206...293,629
Ensembl chr 4:287,214...293,913 		JBrowse link
Rothmund-Thomson Syndrome Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC1 anaphase promoting complex subunit 1 ISO ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 1 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31303264 NCBI chr 3:44,483,961...44,605,035
Ensembl chr 3:44,509,680...44,605,014 		JBrowse link
Rothmund-Thomson Syndrome Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RECQL4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 2 OMIM
ClinVar		 PMID:9536098 PMID:9878247 PMID:10319867 PMID:10678659 PMID:12734318 More... NCBI chr 4:287,206...293,629
Ensembl chr 4:287,214...293,913 		JBrowse link
scalp-ear-nipple syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCTD1 potassium channel tetramerization domain containing 1 ISO ClinVar Annotator: match by term: Scalp-ear-nipple syndrome OMIM
ClinVar		 PMID:1799422 PMID:8042668 PMID:9383029 PMID:10517259 PMID:16411189 More... NCBI chr 6:111,048,193...111,237,868
Ensembl chr 6:111,048,202...111,148,703 		JBrowse link
Schinzel Giedion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SETBP1 SET binding protein 1 ISO ClinVar Annotator: match by term: SETBP1-related condition | ClinVar Annotator: match by term: Schinzel-Giedion syndrome OMIM
ClinVar		 PMID:18398855 PMID:18414213 PMID:20436468 PMID:21037274 PMID:21371013 More... NCBI chr 1:94,295,332...94,666,560
Ensembl chr 1:94,295,851...94,663,017 		JBrowse link
Schopf-Schulz-Passarge syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome OMIM
ClinVar		 PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 More... NCBI chr15:120,925,204...120,939,032
Ensembl chr15:120,925,499...120,938,430 		JBrowse link
schwannomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LZTR1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Schwannomatosis ClinVar PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 More... NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Neurilemmomatosis congenital cutaneous | ClinVar Annotator: match by term: Schwannomatosis ClinVar PMID:10521299 PMID:18647326 PMID:21208904 PMID:22434358 PMID:25741868 More... NCBI chr14:49,874,981...49,906,043
Ensembl chr14:49,874,984...49,906,048 		JBrowse link
schwannomatosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Schwannomatosis 1 ClinVar PMID:7798645 PMID:9399891 PMID:25741868 NCBI chr14:46,653,869...46,726,421
Ensembl chr14:46,653,900...46,731,999 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Schwannomatosis 1 | ClinVar Annotator: match by term: Schwannomatosis 1, somatic OMIM
ClinVar		 PMID:10521299 PMID:17357086 PMID:18285426 PMID:18414213 PMID:18647326 More... NCBI chr14:49,874,981...49,906,043
Ensembl chr14:49,874,984...49,906,048 		JBrowse link
schwannomatosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LZTR1 leucine zipper like post translational regulator 1 susceptibility ISO ClinVar Annotator: match by term: Schwannomatosis 2 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23917401 PMID:23999291 More... NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397 		JBrowse link
Sebaceous Nevus Syndrome and Hemimegalencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 More... NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 More... NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 More... NCBI chr 2:303,836...323,701
Ensembl chr 2:304,430...323,699 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227 		JBrowse link
Sebocystomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100737030 keratin, type I cytoskeletal 42 ISO ClinVar Annotator: match by term: Sebocystomatosis ClinVar PMID:2248894 PMID:7529318 PMID:9008238 PMID:9767294 PMID:22336949 More... NCBI chr12:21,014,182...21,022,123 JBrowse link
Sjogren-Larsson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH3A2 aldehyde dehydrogenase 3 family member A2 ISO ClinVar Annotator: match by term: ALDH3A2-related condition | ClinVar Annotator: match by term: FATTY ALCOHOL:NAD+ OXIDOREDUCTASE DEFICIENCY | ClinVar Annotator: match by term: Fatty aldehyde dehydrogenase deficiency | ClinVar Annotator: match by term: Ichthyosis, spastic neurologic disorder, and oligophrenia OMIM
ClinVar		 PMID:8528251 PMID:9204959 PMID:9250352 PMID:9254849 PMID:9467812 More... NCBI chr12:59,936,838...59,953,677
Ensembl chr12:59,936,848...59,954,358 		JBrowse link
G LOC110255312 keratin, type I cytoskeletal 14 ISO ClinVar Annotator: match by term: Ichthyosis, spastic neurologic disorder, and oligophrenia ClinVar PMID:10971341 PMID:16614722 PMID:25741868 PMID:27283507 PMID:28492532 More... NCBI chr12:21,074,965...21,079,393
Ensembl chr12:21,024,314...21,119,396 		JBrowse link
Skin/Hair/Eye Pigmentation, Variation In, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYEF2 myelin expression factor 2 ISO ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 4 ClinVar PMID:23010199 PMID:25741868 NCBI chr 1:123,582,836...123,642,879
Ensembl chr 1:123,600,908...123,638,236 		JBrowse link
G SLC24A5 solute carrier family 24 member 5 ISO ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 4 ClinVar PMID:16357253 PMID:17999355 PMID:23010199 PMID:25741868 PMID:29025994 NCBI chr 1:123,635,077...123,657,205
Ensembl chr 1:123,635,043...123,656,736 		JBrowse link
spinal neurofibromatosis 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: Neurofibromatosis, familial spinal OMIM
ClinVar		 PMID:190611 PMID:1511985 PMID:1568246 PMID:1568247 PMID:1745350 More... NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969 		JBrowse link
spinocerebellar ataxia type 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELOVL4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 34 OMIM
ClinVar		 PMID:5048218 PMID:24566826 PMID:25741868 PMID:26010696 PMID:28492532 More... NCBI chr 1:86,163,845...86,196,036
Ensembl chr 1:86,163,868...86,195,987 		JBrowse link
steatocystoma multiplex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100737030 keratin, type I cytoskeletal 42 ISO ClinVar Annotator: match by term: Multiple sebaceous cysts | ClinVar Annotator: match by term: Steatocystoma multiplex OMIM
ClinVar		 PMID:2248894 PMID:7529318 PMID:9008238 PMID:9767294 PMID:11886499 More... NCBI chr12:21,014,182...21,022,123 JBrowse link
stiff skin syndrome 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: Stiff skin syndrome OMIM
ClinVar		 PMID:627879 PMID:948948 PMID:1852208 PMID:2005308 PMID:2254511 More... NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		JBrowse link
STING-associated vasculopathy with onset in infancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRD8 bromodomain containing 8 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:140,182,195...140,202,247
Ensembl chr 2:140,168,636...140,202,247 		JBrowse link
G CDC23 cell division cycle 23 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:140,211,334...140,245,728
Ensembl chr 2:140,211,331...140,230,789 		JBrowse link
G CDC25C cell division cycle 25C ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:140,289,156...140,323,696
Ensembl chr 2:140,289,115...140,324,425 		JBrowse link
G CTNNA1 catenin alpha 1 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:140,682,776...140,869,828
Ensembl chr 2:140,682,371...140,871,334 		JBrowse link
G DNAJC18 DnaJ heat shock protein family (Hsp40) member C18 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:141,297,914...141,337,438
Ensembl chr 2:141,295,610...141,337,407 		JBrowse link
G ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:141,343,818...141,352,618
Ensembl chr 2:141,343,803...141,352,603 		JBrowse link
G EGR1 early growth response 1 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296 		JBrowse link
G ETF1 eukaryotic translation termination factor 1 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:140,471,931...140,504,381
Ensembl chr 2:140,469,306...140,504,287 		JBrowse link
G FAM13B family with sequence similarity 13 member B ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:139,958,488...140,073,709
Ensembl chr 2:139,958,490...140,073,663 		JBrowse link
G GFRA3 GDNF family receptor alpha 3 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:140,263,297...140,283,227
Ensembl chr 2:140,263,301...140,283,040 		JBrowse link
G HNRNPA0 heterogeneous nuclear ribonucleoprotein A0 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:139,779,865...139,783,016
Ensembl chr 2:139,779,867...139,783,159 		JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:140,515,239...140,532,164
Ensembl chr 2:140,515,253...140,531,857 		JBrowse link
G KDM3B lysine demethylase 3B ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:140,346,145...140,418,556
Ensembl chr 2:140,346,223...140,418,527 		JBrowse link
G KIF20A kinesin family member 20A ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:140,202,316...140,213,144
Ensembl chr 2:140,202,015...140,211,155 		JBrowse link
G KLHL3 kelch like family member 3 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:139,632,868...139,890,079
Ensembl chr 2:139,632,869...139,920,497 		JBrowse link
G LRRTM2 leucine rich repeat transmembrane neuronal 2 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:140,803,624...140,810,013
Ensembl chr 2:140,803,626...140,809,493 		JBrowse link
G MATR3 matrin 3 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:141,179,515...141,230,259
Ensembl chr 2:141,179,566...141,231,015 		JBrowse link
G MYOT myotilin ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:139,899,245...139,919,095
Ensembl chr 2:139,861,004...139,919,089 		JBrowse link
G MZB1 marginal zone B and B1 cell specific protein ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:141,277,541...141,279,652
Ensembl chr 2:141,277,544...141,279,641 		JBrowse link
G NME5 NME/NM23 family member 5 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:140,132,871...140,168,655
Ensembl chr 2:140,131,991...140,167,934 		JBrowse link
G PAIP2 poly(A) binding protein interacting protein 2 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:141,237,417...141,260,207
Ensembl chr 2:141,237,438...141,261,125 		JBrowse link
G PKD2L2 polycystin 2 like 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:139,920,552...139,956,509
Ensembl chr 2:139,920,583...139,956,432 		JBrowse link
G PROB1 proline rich basic protein 1 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:141,280,252...141,286,618
Ensembl chr 2:141,282,086...141,285,145 		JBrowse link
G REEP2 receptor accessory protein 2 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:140,420,422...140,427,160
Ensembl chr 2:140,420,516...140,427,160 		JBrowse link
G SIL1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:140,884,170...141,118,201
Ensembl chr 2:140,878,070...141,118,059 		JBrowse link
G SLC23A1 solute carrier family 23 member 1 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:141,258,318...141,277,555
Ensembl chr 2:141,258,323...141,276,442 		JBrowse link
G SPATA24 spermatogenesis associated 24 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:141,286,870...141,293,232
Ensembl chr 2:141,286,880...141,293,227 		JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy | ClinVar Annotator: match by term: Sting-associated vasculopathy, infantile-onset OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25029335 More... NCBI chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198 		JBrowse link
G WNT8A Wnt family member 8A ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 2:140,103,322...140,113,682
Ensembl chr 2:140,103,830...140,109,862 		JBrowse link
Sturge-Weber syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNH cyclin H ISO ClinVar Annotator: match by term: Parkes Weber syndrome ClinVar PMID:24038909 PMID:25741868 PMID:27081547 PMID:28492532 PMID:28655553 More... NCBI chr 2:94,980,938...95,019,053
Ensembl chr 2:94,980,941...95,018,634 		JBrowse link
G FN1 fibronectin 1 ISO mRNA, protein:increased expression:cerebral cortex RGD PMID:12621118 RGD:1358624 NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,014 		JBrowse link
G GNAQ G protein subunit alpha q ISO ClinVar Annotator: match by term: Sturge-Weber syndrome OMIM
ClinVar		 PMID:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 More... NCBI chr 1:230,607,469...230,906,988
Ensembl chr 1:230,605,265...230,907,674 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Parkes Weber syndrome ClinVar PMID:25741868 NCBI chr 1:164,381,892...164,469,313
Ensembl chr 1:164,381,845...164,471,226 		JBrowse link
G MMP2 matrix metallopeptidase 2 severity ISO protein:increased expression:urine RGD PMID:23720035 RGD:13204823 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G MMP9 matrix metallopeptidase 9 severity ISO protein:increased expression:urine RGD PMID:23720035 RGD:13204823 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G RASA1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Parkes Weber syndrome ClinVar PMID:22200646 PMID:23801933 PMID:24038909 PMID:25741868 PMID:27081547 More... NCBI chr 2:94,879,615...94,992,725
Ensembl chr 2:94,878,911...94,993,450 		JBrowse link
Systemic Autoinflammatory Disease with Vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LYN LYN proto-oncogene, Src family tyrosine kinase ISO ClinVar Annotator: match by term: Autoinflammatory disease, systemic, with vasculitis | ClinVar Annotator: match by term: LAVLI SYNDROME | ClinVar Annotator: match by term: LYN-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:36122175 PMID:36932076 NCBI chr 4:75,793,273...75,903,710
Ensembl chr 4:75,793,492...75,903,496 		JBrowse link
Systemic Autoinflammatory Disease, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED OMIM
ClinVar		 PMID:25741868 NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		JBrowse link
Tietz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MITF melanocyte inducing transcription factor susceptibility ISO ClinVar Annotator: match by term: Tietz syndrome OMIM
ClinVar		 PMID:2440678 PMID:8589691 PMID:8659547 PMID:9279758 PMID:9536098 More... NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,093 		JBrowse link
transient bullous dermolysis of the newborn term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, dominant neonatal form | ClinVar Annotator: match by term: Transient bullous dermolysis of the newborn OMIM
ClinVar		 PMID:2653224 PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 More... NCBI chr13:31,262,750...31,295,112 JBrowse link
trichothiodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: PIBIDS syndrome | ClinVar Annotator: match by term: Trichothiodystrophy ClinVar PMID:7585650 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033 More... NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO DNA:missense mutation:cds:p.T119P (human) RGD PMID:9012405 RGD:13207496 NCBI chr15:25,189,644...25,224,381
Ensembl chr15:25,189,663...25,228,066 		JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:54,283,315...54,285,823
Ensembl chr18:54,283,325...54,285,820 		JBrowse link
tuberous sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 ISO protein:decreased expression, altered localization:cerebral cortex: RGD PMID:22752548 RGD:9068443 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637 		JBrowse link
G EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 treatment ISO RGD PMID:12384518 RGD:1549429 NCBI chr15:48,423,001...48,443,373
Ensembl chr15:48,422,816...48,443,399 		JBrowse link
G FLNA filamin A ISO protein:increased expression:prefrontal cortex (human) RGD PMID:25277454 RGD:11565117 NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: therapeutic CTD PMID:16845661 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:cerebral cortex RGD PMID:22459050 RGD:8547829 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Tuberous sclerosis syndrome ClinVar NCBI chr 3:39,849,579...39,899,455
Ensembl chr 3:39,849,609...39,899,455 		JBrowse link
G TSC1 TSC complex subunit 1 susceptibility ISO DNA:nonsense mutations, deletion: :multiple
ClinVar Annotator: match by term: Cortical tubers | ClinVar Annotator: match by term: Tuberous sclerosis | ClinVar Annotator: match by term: Tuberous sclerosis syndrome		 RGD
ClinVar		 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 More... RGD:1624196 NCBI chr 1:272,636,530...272,685,948
Ensembl chr 1:272,636,532...272,685,951 		JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Cortical tubers | ClinVar Annotator: match by term: Tuberous sclerosis | ClinVar Annotator: match by term: Tuberous sclerosis syndrome ClinVar PMID:1112665 PMID:1520333 PMID:1870099 PMID:2039137 PMID:2903760 More... NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371 		JBrowse link
tuberous sclerosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:272,912,239...272,935,316 JBrowse link
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:273,022,014...273,066,916
Ensembl chr 1:273,024,009...273,056,039 		JBrowse link
G ADAMTSL2 ADAMTS like 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:273,119,826...273,155,412
Ensembl chr 1:273,119,904...273,155,409 		JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G AK8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:272,497,661...272,625,668
Ensembl chr 1:272,497,662...272,625,660 		JBrowse link
G BARHL1 BarH like homeobox 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:272,373,125...272,380,223
Ensembl chr 1:272,373,402...272,381,224 		JBrowse link
G C8G complement C8 gamma chain ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G CACFD1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:273,045,620...273,066,916
Ensembl chr 1:273,056,532...273,066,914 		JBrowse link
G CAMSAP1 calmodulin regulated spectrin associated protein 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G CARD9 caspase recruitment domain family member 9 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G CCDC183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G CEL carboxyl ester lipase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:272,763,203...272,770,259
Ensembl chr 1:272,763,003...272,770,255 		JBrowse link
G CFAP77 cilia and flagella associated protein 77 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:272,216,581...272,362,321
Ensembl chr 1:272,217,072...272,361,733 		JBrowse link
G CLIC3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,111 		JBrowse link
G DBH dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:273,204,407...273,225,562
Ensembl chr 1:273,204,175...273,225,552 		JBrowse link
G DDX31 DEAD-box helicase 31 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:272,383,585...272,454,395
Ensembl chr 1:272,383,595...272,453,979 		JBrowse link
G DIPK1B divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G DNLZ DNL-type zinc finger ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G DPP7 dipeptidyl peptidase 7 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G EDF1 endothelial differentiation related factor 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G EGFL7 EGF like domain multiple 7 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G ENTR1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G FAM163B family with sequence similarity 163 member B ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:273,156,749...273,186,756
Ensembl chr 1:273,156,751...273,186,756 		JBrowse link
G FBXW5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G FCN2 ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:274,106,276...274,111,970
Ensembl chr 1:274,103,877...274,111,970 		JBrowse link
G FUT7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:272,827,930...272,836,460
Ensembl chr 1:272,827,934...272,836,449 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:272,701,386...272,715,551
Ensembl chr 1:272,702,184...272,715,539 		JBrowse link
G GLT6D1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G GPSM1 G protein signaling modulator 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G GTF3C4 general transcription factor IIIC subunit 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:272,454,488...272,479,968
Ensembl chr 1:272,454,503...272,479,952 		JBrowse link
G GTF3C5 general transcription factor IIIC subunit 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:272,743,527...272,760,055 JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G KCNT1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G LCN10 lipocalin 10 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G LCN12 lipocalin 12 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G LCN15 lipocalin 15 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G LCN6 lipocalin 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G LCN9 lipocalin 9 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G LOC110258087 endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase-like ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G MAMDC4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G MED22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:272,956,119...272,961,618
Ensembl chr 1:272,955,473...272,961,596 		JBrowse link
G MIR126 microRNA mir-126 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G MRPS2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G MYMK myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:273,101,674...273,111,721
Ensembl chr 1:273,101,678...273,111,727 		JBrowse link
G NACC2 NACC family member 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G NPDC1 neural proliferation, differentiation and control 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G OBP2B odorant binding protein 2B ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:272,886,871...272,890,537 JBrowse link
G OLFM1 olfactomedin 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:274,236,241...274,261,322
Ensembl chr 1:274,224,454...274,261,328 		JBrowse link
G PAEP progestagen associated endometrial protein ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G PAXX PAXX non-homologous end joining factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G PHPT1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G PIERCE1 piercer of microtubule wall 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G PMPCA peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G PPP1R26 protein phosphatase 1 regulatory subunit 26 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G PTGDS prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G QSOX2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G RABL6 RAB, member RAS oncogene family like 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G RALGDS ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:272,776,844...272,824,179
Ensembl chr 1:272,776,846...272,824,184 		JBrowse link
G REXO4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:273,011,736...273,021,956
Ensembl chr 1:273,011,734...273,021,938 		JBrowse link
G RPL7A ribosomal protein L7a ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:272,961,421...272,965,636
Ensembl chr 1:272,959,831...272,965,634 		JBrowse link
G RXRA retinoid X receptor alpha ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:273,698,842...273,797,622
Ensembl chr 1:273,705,505...273,797,620 		JBrowse link
G SAPCD2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G SARDH sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:273,230,357...273,295,170
Ensembl chr 1:273,230,375...273,294,621 		JBrowse link
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G SETX senataxin ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,747 		JBrowse link
G SLC2A6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:273,063,261...273,075,455
Ensembl chr 1:273,063,270...273,075,391 		JBrowse link
G SNAPC4 small nuclear RNA activating complex polypeptide 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G SPACA9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:272,625,701...272,635,406
Ensembl chr 1:272,625,712...272,636,346 		JBrowse link
G STKLD1 serine/threonine kinase like domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:272,988,767...273,012,007
Ensembl chr 1:272,995,842...273,011,443 		JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:272,965,637...272,970,516
Ensembl chr 1:272,965,643...272,970,483 		JBrowse link
G SURF2 surfeit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:272,970,522...272,976,188
Ensembl chr 1:272,970,548...272,975,293 		JBrowse link
G SURF4 surfeit 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:272,975,164...272,988,683
Ensembl chr 1:272,975,160...272,988,688 		JBrowse link
G SURF6 surfeit 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:272,949,236...272,955,674
Ensembl chr 1:272,949,247...272,955,197 		JBrowse link
G TMEM141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G TMEM250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G TRAF2 TNF receptor associated factor 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G TSC1 TSC complex subunit 1 treatment ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 OMIM
ClinVar
RGD		 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 More... RGD:11570507 NCBI chr 1:272,636,530...272,685,948
Ensembl chr 1:272,636,532...272,685,951 		JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:10205261 PMID:17304050 PMID:21520333 PMID:25741868 PMID:27859028 More... NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371 		JBrowse link
G TTF1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:272,180,488...272,212,504
Ensembl chr 1:272,180,498...272,212,478 		JBrowse link
G UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G UBAC1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532
G VAV2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:273,303,142...273,476,250
Ensembl chr 1:273,303,144...273,476,207 		JBrowse link
G WDR5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 1:273,560,274...273,577,827
Ensembl chr 1:273,560,283...273,578,063 		JBrowse link
tuberous sclerosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTKMT adenine nucleotide translocase lysine methyltransferase ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:41,057,727...41,059,309
Ensembl chr 3:41,057,649...41,062,032 		JBrowse link
G BAIAP3 BAI1 associated protein 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:40,536,557...40,550,508
Ensembl chr 3:40,537,399...40,550,471 		JBrowse link
G BRICD5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr 3:39,780,707...39,782,478
Ensembl chr 3:39,780,940...39,782,466 		JBrowse link
G C1QTNF8 C1q and TNF related 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:40,748,457...40,749,884
Ensembl chr 3:40,748,457...40,749,884 		JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:40,637,420...40,694,616
Ensembl chr 3:40,637,427...40,695,177 		JBrowse link
G CASKIN1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr 3:39,794,400...39,811,381
Ensembl chr 3:39,794,293...39,811,009 		JBrowse link
G CCDC154 coiled-coil domain containing 154 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:40,420,339...40,429,787
Ensembl chr 3:40,422,892...40,429,844 		JBrowse link
G CCDC78 coiled-coil domain containing 78 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:41,053,926...41,057,735
Ensembl chr 3:41,053,936...41,057,734 		JBrowse link
G CHTF18 chromosome transmission fidelity factor 18 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:41,000,688...41,009,588
Ensembl chr 3:41,000,690...41,009,589 		JBrowse link
G CIAO3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:41,042,672...41,050,013
Ensembl chr 3:41,042,702...41,050,012 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:40,397,807...40,420,960
Ensembl chr 3:40,399,639...40,420,957 		JBrowse link
G CRAMP1 cramped chromatin regulator homolog 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr 3:40,257,677...40,308,034
Ensembl chr 3:40,257,685...40,308,089 		JBrowse link
G DNASE1L2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr 3:39,757,725...39,761,497
Ensembl chr 3:39,757,296...39,761,080 		JBrowse link
G E4F1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr 3:39,757,679...39,773,024
Ensembl chr 3:39,761,356...39,772,262 		JBrowse link
G ECI1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr 3:39,750,742...39,758,516
Ensembl chr 3:39,750,742...39,758,516 		JBrowse link
G EME2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr 3:40,190,545...40,193,994
Ensembl chr 3:40,186,846...40,193,957 		JBrowse link
G FAHD1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr14:121,538,308...121,539,037
Ensembl chr 3:40,141,132...40,141,806 		JBrowse link
G FBXL16 F-box and leucine rich repeat protein 16 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:41,071,783...41,083,653
Ensembl chr 3:41,071,823...41,083,644 		JBrowse link
G GFER growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr 3:39,981,938...39,984,451
Ensembl chr 3:39,981,940...39,984,991 		JBrowse link
G GNG13 G protein subunit gamma 13 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:40,997,556...41,000,718
Ensembl chr 3:40,998,504...41,000,905 		JBrowse link
G GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:40,512,093...40,534,217
Ensembl chr 3:40,512,088...40,534,187 		JBrowse link
G HAGH hydroxyacylglutathione hydrolase ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr 3:40,139,099...40,162,921 JBrowse link
G HAGHL hydroxyacylglutathione hydrolase like ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:41,050,047...41,053,797
Ensembl chr 3:41,046,171...41,053,464 		JBrowse link
G HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chr 3:40,029,927...40,038,803
Ensembl chr 3:40,032,464...40,038,870 		JBrowse link
G IFNG interferon gamma ISO OMIM NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
G IFT140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr 3:40,309,298...40,372,139
Ensembl chr 3:40,309,635...40,372,135 		JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr 3:40,173,595...40,177,789
Ensembl chr 3:40,174,764...40,177,784 		JBrowse link
G JMJD8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:41,090,787...41,093,620
Ensembl chr 3:41,090,788...41,093,614 		JBrowse link
G JPT2 Jupiter microtubule associated homolog 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr 3:40,245,473...40,256,960
Ensembl chr 3:40,244,011...40,256,980 		JBrowse link
G LMF1 lipase maturation factor 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:40,841,242...40,929,163
Ensembl chr 3:40,835,413...40,934,253 		JBrowse link
G LOC100524016 mesothelin ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:41,025,892...41,029,302 JBrowse link
G LOC110256121 serine protease 33-like ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr12:60,158,818...60,162,073 JBrowse link
G MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr 3:40,196,873...40,241,453
Ensembl chr 3:40,196,875...40,241,291 		JBrowse link
G MCRIP2 MAPK regulated corepressor interacting protein 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:41,123,037...41,133,463
Ensembl chr 3:41,123,048...41,127,917 		JBrowse link
G MCT7 tryptase ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:40,616,642...40,619,148 JBrowse link
G MEIOB meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chr 3:40,092,689...40,133,173
Ensembl chr 3:40,092,530...40,133,171 		JBrowse link
G METRN meteorin, glial cell differentiation regulator ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:41,053,722...41,064,315
Ensembl chr 3:41,061,225...41,064,391 		JBrowse link
G METTL26 methyltransferase like 26 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:41,134,246...41,135,880
Ensembl chr 3:41,134,246...41,141,353 		JBrowse link
G MLST8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr 3:39,778,746...39,786,206
Ensembl chr 3:39,778,754...39,788,285 		JBrowse link
G MRPS34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr 3:40,194,078...40,195,316
Ensembl chr 3:40,193,033...40,195,018 		JBrowse link
G MSRB1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:25741868 PMID:28492532 More... NCBI chr 3:40,017,161...40,021,736
Ensembl chr 3:40,017,194...40,028,047 		JBrowse link
G NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr 3:40,003,109...40,005,650
Ensembl chr 3:40,003,115...40,005,588 		JBrowse link
G NHERF2 NHERF family PDZ scaffold protein 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr 3:39,942,366...39,952,824
Ensembl chr 3:39,942,367...39,952,825 		JBrowse link
G NME3 NME/NM23 nucleoside diphosphate kinase 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr 3:40,195,456...40,197,121
Ensembl chr 3:40,195,635...40,196,869 		JBrowse link
G NOXO1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr 3:39,987,340...39,989,640
Ensembl chr 3:39,987,384...39,989,548 		JBrowse link
G NPW neuropeptide W ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr 3:39,957,042...39,957,792
Ensembl chr 3:39,957,042...39,957,792 		JBrowse link
G NTHL1 nth like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr 3:39,935,619...39,941,718
Ensembl chr 3:39,935,475...39,941,712 		JBrowse link
G NUBP2 NUBP iron-sulfur cluster assembly factor 2, cytosolic ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr 3:40,178,417...40,184,646
Ensembl chr 3:40,178,417...40,186,551 		JBrowse link
G PGP phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr 3:39,776,815...39,779,669
Ensembl chr 3:39,762,608...39,778,011 		JBrowse link
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:41,164,399...41,177,453
Ensembl chr 3:41,160,657...41,176,318 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:9829910 PMID:10205261 PMID:11112665 PMID:15024740 PMID:15874888 More... NCBI chr 3:39,849,579...39,899,455
Ensembl chr 3:39,849,609...39,899,455 		JBrowse link
G PTX4 pentraxin 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:40,383,325...40,391,567
Ensembl chr 3:40,382,667...40,390,812 		JBrowse link
G RAB26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr 3:39,831,981...39,837,510
Ensembl chr 3:39,831,981...39,837,515 		JBrowse link
G RAB40C RAB40C, member RAS oncogene family ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:41,140,557...41,160,101
Ensembl chr 3:41,140,561...41,160,077 		JBrowse link
G RHBDL1 rhomboid like 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:41,096,881...41,099,582
Ensembl chr 3:41,096,884...41,099,587 		JBrowse link
G RHOT2 ras homolog family member T2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:41,100,876...41,106,370
Ensembl chr 3:41,100,879...41,106,418 		JBrowse link
G RNF151 ring finger protein 151 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr 3:39,997,651...40,000,782
Ensembl chr 3:39,997,647...39,999,748 		JBrowse link
G RPL3L ribosomal protein L3 like ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr 3:40,004,907...40,016,702
Ensembl chr 3:40,007,868...40,016,699 		JBrowse link
G RPS2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr 3:39,996,179...40,003,110
Ensembl chr 3:40,001,326...40,003,107 		JBrowse link
G RPUSD1 RNA pseudouridine synthase domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:41,009,722...41,013,013
Ensembl chr 3:41,009,717...41,013,018 		JBrowse link
G SERPINC1 serpin family C member 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:21264449 PMID:23932013 PMID:25298121 PMID:28492532 NCBI chr 9:116,181,988...116,193,100
Ensembl chr 9:116,181,670...116,193,201 		JBrowse link
G SOX8 SRY-box transcription factor 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:40,825,151...40,830,085
Ensembl chr 3:40,825,157...40,830,736 		JBrowse link
G SPSB3 splA/ryanodine receptor domain and SOCS box containing 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr 3:40,184,534...40,190,519
Ensembl chr 3:40,185,014...40,190,518 		JBrowse link
G SSTR5 somatostatin receptor 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:40,756,465...40,758,111
Ensembl chr 3:40,756,457...40,762,895 		JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:41,092,514...41,095,181
Ensembl chr 3:41,092,449...41,095,136 		JBrowse link
G SYNGR3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr 3:39,975,067...39,981,537
Ensembl chr 3:39,975,069...39,979,217 		JBrowse link
G TBL3 transducin beta like 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr 3:39,989,739...39,996,138
Ensembl chr 3:39,989,740...39,995,123 		JBrowse link
G TELO2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:40,372,215...40,386,777
Ensembl chr 3:40,362,208...40,383,279 		JBrowse link
G TMEM204 transmembrane protein 204 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:20498439 PMID:28492532 PMID:29932062 NCBI chr 3:40,342,957...40,355,887
Ensembl chr 3:40,342,961...40,355,726 		JBrowse link
G TRAF7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:25741868 NCBI chr 3:39,811,803...39,828,450
Ensembl chr 3:39,810,606...39,828,395 		JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 OMIM
ClinVar		 PMID:3 PMID:1112665 PMID:1520333 PMID:1870099 PMID:2039137 More... NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371 		JBrowse link
G TSR3 TSR3 ribosome maturation factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:40,534,222...40,536,773
Ensembl chr 3:40,534,222...40,536,766 		JBrowse link
G UBE2I ubiquitin conjugating enzyme E2 I ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:40,556,556...40,586,382 JBrowse link
G UNKL unk like zinc finger ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:40,444,997...40,513,050
Ensembl chr 3:40,445,034...40,513,047 		JBrowse link
G UQCC4 ubiquinol-cytochrome c reductase complex assembly factor 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:40,439,419...40,441,209
Ensembl chr 3:40,440,051...40,441,281 		JBrowse link
G WDR24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:41,085,415...41,090,628
Ensembl chr 3:41,085,463...41,090,610 		JBrowse link
G WDR90 WD repeat domain 90 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:41,106,735...41,122,324
Ensembl chr 3:41,106,720...41,122,426 		JBrowse link
G WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042 PMID:17287951 PMID:28492532 PMID:29932062 NCBI chr 3:41,136,200...41,139,986
Ensembl chr 3:41,136,202...41,138,785 		JBrowse link
G ZNF598 zinc finger protein 598, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:10205261 PMID:16114042 PMID:17287951 PMID:17304050 PMID:20498439 More... NCBI chr 3:39,962,896...39,972,659
Ensembl chr 3:39,962,988...39,972,656 		JBrowse link
variegate porphyria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Variegate porphyria ClinVar PMID:22958180 PMID:24281366 PMID:25741868 PMID:28492532 NCBI chr15:121,246,180...121,254,350
Ensembl chr15:121,246,187...121,254,331 		JBrowse link
G B4GALT3 beta-1,4-galactosyltransferase 3 ISO ClinVar Annotator: match by term: Variegate porphyria ClinVar PMID:25741868 NCBI chr 4:89,278,256...89,284,407
Ensembl chr 4:89,278,439...89,284,400 		JBrowse link
G HFE homeostatic iron regulator ISO ClinVar Annotator: match by term: Variegate porphyria ClinVar PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,767,000 		JBrowse link
G PPOX protoporphyrinogen oxidase ISO ClinVar Annotator: match by term: Variegate porphyria OMIM
ClinVar		 PMID:1946837 PMID:3319294 PMID:8290408 PMID:8673113 PMID:8817334 More... NCBI chr 4:89,277,984...89,288,946
Ensembl chr 4:89,284,500...89,288,902 		JBrowse link
G USP21 ubiquitin specific peptidase 21 ISO ClinVar Annotator: match by term: Variegate porphyria ClinVar PMID:25741868 NCBI chr 4:89,289,056...89,295,232
Ensembl chr 4:89,289,070...89,295,237 		JBrowse link
Variegate Porphyria, Childhood-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPOX protoporphyrinogen oxidase ISO ClinVar Annotator: match by term: Variegate porphyria, childhood-onset OMIM
ClinVar		 PMID:2317449 PMID:3319294 PMID:8290408 PMID:8673113 PMID:8817334 More... NCBI chr 4:89,277,984...89,288,946
Ensembl chr 4:89,284,500...89,288,902 		JBrowse link
vascular type Ehlers-Danlos syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: COL3A1-related condition | ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, arterial type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, ecchymotic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome vascular type OMIM
ClinVar		 PMID:1352273 PMID:1939638 PMID:2049575 PMID:2235526 PMID:2243125 More... NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363 		JBrowse link
vestibular schwannomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP1B1 adaptor related protein complex 1 subunit beta 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:46,469,462...46,520,175
Ensembl chr14:46,469,430...46,520,153 		JBrowse link
G ASCC2 activating signal cointegrator 1 complex subunit 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:46,797,307...46,842,479
Ensembl chr14:46,797,317...46,842,459 		JBrowse link
G C14H22orf31 chromosome 14 C22orf31 homolog ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:46,242,376...46,254,129 JBrowse link
G CABP7 calcium binding protein 7 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:46,747,654...46,759,312
Ensembl chr14:46,747,579...46,758,167 		JBrowse link
G CCDC117 coiled-coil domain containing 117 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:45,995,628...46,008,290
Ensembl chr14:45,995,586...46,008,290 		JBrowse link
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290 		JBrowse link
G EMID1 EMI domain containing 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:46,358,013...46,402,078
Ensembl chr14:46,358,008...46,402,076 		JBrowse link
G EWSR1 EWS RNA binding protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:46,408,636...46,439,357
Ensembl chr14:46,408,649...46,439,453 		JBrowse link
G GAS2L1 growth arrest specific 2 like 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:46,449,767...46,455,278
Ensembl chr14:46,449,787...46,455,276 		JBrowse link
G HSCB HscB mitochondrial iron-sulfur cluster cochaperone ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:45,967,460...45,980,632
Ensembl chr14:45,967,502...45,980,622 		JBrowse link
G KREMEN1 kringle containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:46,254,248...46,323,355
Ensembl chr14:46,254,326...46,323,354 		JBrowse link
G MTMR3 myotubularin related protein 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:46,874,977...47,022,581
Ensembl chr14:46,875,050...47,023,487 		JBrowse link
G NEFH neurofilament heavy chain ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:46,559,698...46,568,686
Ensembl chr14:46,559,860...46,568,088 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 OMIM
ClinVar		 PMID:1479598 PMID:2543905 PMID:4000972 PMID:7535084 PMID:7666400 More... NCBI chr14:46,653,869...46,726,421
Ensembl chr14:46,653,900...46,731,999 		JBrowse link
G NIPSNAP1 nipsnap homolog 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:46,624,368...46,641,453
Ensembl chr14:46,624,727...46,641,438 		JBrowse link
G RASL10A RAS like family 10 member A ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:46,455,441...46,457,977
Ensembl chr14:46,455,448...46,457,975 		JBrowse link
G RHBDD3 rhomboid domain containing 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:46,403,146...46,411,217
Ensembl chr14:46,400,026...46,408,364 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human) RGD PMID:28365909 RGD:151708708 NCBI chr14:49,874,981...49,906,043
Ensembl chr14:49,874,984...49,906,048 		JBrowse link
G THOC5 THO complex subunit 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:46,578,973...46,624,237
Ensembl chr14:46,579,838...46,623,501 		JBrowse link
G UQCR10 ubiquinol-cytochrome c reductase, complex III subunit X ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:46,783,340...46,786,140
Ensembl chr14:46,783,325...46,786,140 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:19587327 PMID:20406973 RGD:8547955 RGD:8547957 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		JBrowse link
G XBP1 X-box binding protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:46,011,239...46,016,526
Ensembl chr14:46,008,377...46,016,526 		JBrowse link
G ZMAT5 zinc finger matrin-type 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:46,758,436...46,783,055
Ensembl chr14:46,758,442...46,782,969 		JBrowse link
G ZNRF3 zinc and ring finger 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:46,092,000...46,241,327
Ensembl chr14:46,092,062...46,241,321 		JBrowse link
Vohwinkel syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Keratoderma hereditarium mutilans | ClinVar Annotator: match by term: Mutilating keratoderma OMIM
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846 		JBrowse link
Vohwinkel Syndrome, Variant Form term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LORICRIN loricrin cornified envelope precursor protein ISO ClinVar Annotator: match by term: Loricrin keratoderma OMIM
ClinVar		 PMID:8673107 PMID:9326323 PMID:9326398 PMID:10798362 PMID:11038186 More... NCBI chr 4:96,303,835...96,308,016
Ensembl chr 4:96,304,070...96,305,110 		JBrowse link
von Hippel-Lindau disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr13:66,315,438...66,324,641
Ensembl chr13:66,315,315...66,324,641 		JBrowse link
G CCND1 cyclin D1 susceptibility ISO ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF OMIM
ClinVar		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr 3:94,167,759...94,253,662
Ensembl chr 3:94,165,816...94,254,079 		JBrowse link
G IRAK2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr13:66,350,606...66,416,834
Ensembl chr13:66,350,606...66,416,827 		JBrowse link
G MMP3 matrix metallopeptidase 3 onset ISO RGD PMID:19551141 RGD:7241233 NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,446,836...33,454,000 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:9509062 PMID:11404820 PMID:12618761 PMID:16314641 PMID:16317055 More... NCBI chr 6:75,648,362...75,678,111
Ensembl chr 6:75,648,215...75,678,378 		JBrowse link
G SLC18A1 solute carrier family 18 member A1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr14:4,243,553...4,279,341
Ensembl chr14:4,243,557...4,275,243 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: VHL syndrome | ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome OMIM
ClinVar		 PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:7553625 More... NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654 		JBrowse link
white sponge nevus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT4 keratin 4 ISO ClinVar Annotator: match by term: White sponge nevus of cannon ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:18,091,742...18,099,086
Ensembl chr 5:18,091,743...18,099,178 		JBrowse link
G LOC100515166 keratin, type I cytoskeletal 13 ISO OMIM:193900 | OMIM:615785
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD		 NCBI chr12:21,139,296...21,143,556 JBrowse link
white sponge nevus 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT4 keratin 4 ISO ClinVar Annotator: match by term: White sponge nevus 1 OMIM
ClinVar		 PMID:10652003 PMID:12828738 PMID:25741868 PMID:28492532 NCBI chr 5:18,091,742...18,099,086
Ensembl chr 5:18,091,743...18,099,178 		JBrowse link
G LOC100515166 keratin, type I cytoskeletal 13 ISO ClinVar Annotator: match by term: White sponge nevus 1 ClinVar NCBI chr12:21,139,296...21,143,556 JBrowse link
white sponge nevus 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100515166 keratin, type I cytoskeletal 13 ISO ClinVar Annotator: match by term: White sponge nevus 2 ClinVar
OMIM		 PMID:7493031 PMID:7532199 PMID:14600690 PMID:25741868 PMID:28492532 NCBI chr12:21,139,296...21,143,556 JBrowse link
Worster-Drought Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by term: Worster-Drought syndrome ClinVar PMID:24375697 NCBI chr11:69,361,219...69,442,769
Ensembl chr11:69,361,229...69,443,039 		JBrowse link
wrinkly skin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Wrinkly skin syndrome OMIM
ClinVar		 PMID:18157129 PMID:20301755 PMID:25741868 PMID:28492532 NCBI chr14:29,250,400...29,297,697
Ensembl chr14:29,250,405...29,297,683 		JBrowse link
X-linked cardiac valvular dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO ClinVar Annotator: match by term: Cardiac valvular dysplasia, X-linked | ClinVar Annotator: match by term: Myxomatous valvular dystrophy, X-linked OMIM
ClinVar		 PMID:240645 PMID:1854572 PMID:8230166 PMID:9497244 PMID:9536098 More... NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
X-linked dyskeratosis congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: DKC1-related condition | ClinVar Annotator: match by term: Dyskeratosis congenita, X-linked OMIM
ClinVar		 PMID:768476 PMID:1361371 PMID:3009302 PMID:7607282 PMID:9042917 More... NCBI chr  X:125,218,928...125,228,881
Ensembl chr  X:125,218,923...125,229,525 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, X-linked | ClinVar Annotator: match by term: Zinsser-Cole-Engman Syndrome ClinVar PMID:9536098 PMID:17576681 PMID:23959892 PMID:25741868 PMID:26847928 More... NCBI chr17:62,611,844...62,636,628
Ensembl chr17:62,611,909...62,634,690 		JBrowse link
X-linked ichthyosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPLA4 patatin like phospholipase domain containing 4 ISO ClinVar Annotator: match by term: Recessive X-linked ichthyosis ClinVar PMID:3007328 PMID:7208152 PMID:18413370 NCBI chr  X:4,540,846...4,623,831
NCBI chr  Y:3,287,635...3,369,286 		JBrowse link
G PUDP pseudouridine 5'-phosphatase ISO ClinVar Annotator: match by term: Ichthyosis, X-Linked | ClinVar Annotator: match by term: Recessive X-linked ichthyosis ClinVar PMID:3007328 PMID:7208152 PMID:18413370 PMID:31690835 NCBI chr  X:3,577,487...3,876,142
NCBI chr  Y:2,681,502...2,701,629 		JBrowse link
G STS steroid sulfatase ISO ClinVar Annotator: match by term: Ichthyosis, X-Linked | ClinVar Annotator: match by term: Placental steroid sulfatase deficiency | ClinVar Annotator: match by term: Recessive X-linked ichthyosis OMIM
ClinVar		 PMID:1539590 PMID:2668275 PMID:3007328 PMID:3032454 PMID:7208152 More... NCBI chr  X:3,926,027...4,076,900
NCBI chr  Y:2,747,102...2,828,322 		JBrowse link
X-linked keratosis follicularis spinulosa decalvans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MBTPS2 membrane bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked OMIM
ClinVar		 PMID:8745901 PMID:20672378 PMID:23316014 PMID:25741868 NCBI chr  X:18,013,360...18,054,250 JBrowse link
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MBTPS2 membrane bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: Olmsted syndrome, X-linked OMIM
ClinVar		 PMID:17367233 PMID:22931912 PMID:25741868 PMID:28492532 NCBI chr  X:18,013,360...18,054,250 JBrowse link
X-linked reticulate pigmentary disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLA1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: POLA1-related condition | ClinVar Annotator: match by term: X-linked reticulate pigmentary disorder OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27019227 PMID:28492532 NCBI chr  X:20,756,674...21,064,265
Ensembl chr  X:20,756,725...21,062,175 		JBrowse link
xeroderma pigmentosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDB2 damage specific DNA binding protein 2 susceptibility ISO DNA:transitions: :p.K244E, p.R273H
ClinVar Annotator: match by term: Xeroderma pigmentosum		 RGD
ClinVar		 PMID:8798680 PMID:24728327 PMID:25741868 PMID:26580448 PMID:28492532 RGD:1601050 NCBI chr 2:15,342,614...15,370,623
Ensembl chr 2:15,337,743...15,383,120 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:3341805 PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 More... NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:8304337 PMID:9536098 PMID:16199547 PMID:16550608 PMID:16947863 More... NCBI chr15:25,189,644...25,224,381
Ensembl chr15:25,189,663...25,228,066 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:8797827 PMID:9485007 PMID:9579555 PMID:9580660 PMID:15159313 More... NCBI chr 3:29,266,234...29,306,109
Ensembl chr 3:29,269,989...29,306,151 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:2478446 PMID:7951246 PMID:8317483 PMID:9096355 PMID:11841555 More... NCBI chr11:71,141,823...71,168,326
Ensembl chr11:71,141,842...71,168,322 		JBrowse link
G KLC3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar NCBI chr 6:51,727,891...51,735,753
Ensembl chr 6:51,727,904...51,735,754 		JBrowse link
G POLH DNA polymerase eta ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:10398605 PMID:10871396 PMID:11121129 PMID:11773631 PMID:17344931 More... NCBI chr 7:38,569,211...38,601,794
Ensembl chr 7:38,567,788...38,601,790 		JBrowse link
G POLR1C RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:10398605 PMID:10871396 PMID:11121129 PMID:11773631 PMID:17344931 More... NCBI chr 7:38,511,521...38,531,938
Ensembl chr 7:38,507,073...38,537,943 		JBrowse link
G TMEM43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:18414213 PMID:23400628 PMID:25741868 PMID:28492532 NCBI chr13:70,397,069...70,417,213
Ensembl chr13:70,393,227...70,417,168 		JBrowse link
G XPA XPA, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:1352672 PMID:1372102 PMID:1372103 PMID:1601884 PMID:1702221 More... NCBI chr 1:239,532,331...239,568,589
Ensembl chr 1:239,532,272...239,568,570 		JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum ClinVar PMID:8298653 PMID:9804340 PMID:10766188 PMID:11511294 PMID:15654957 More... NCBI chr13:70,348,841...70,397,194
Ensembl chr13:70,348,864...70,397,772 		JBrowse link
xeroderma pigmentosum group A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G XPA XPA, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum group A OMIM
ClinVar		 PMID:1339397 PMID:1352672 PMID:1372102 PMID:1372103 PMID:1601884 More... NCBI chr 1:239,532,331...239,568,589
Ensembl chr 1:239,532,272...239,568,570 		JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum group A ClinVar PMID:12177305 PMID:17119055 PMID:18414213 PMID:23400628 PMID:24728327 More... NCBI chr13:70,348,841...70,397,194
Ensembl chr13:70,348,864...70,397,772 		JBrowse link
xeroderma pigmentosum group B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum group B OMIM
ClinVar		 PMID:2167179 PMID:4811796 PMID:8304337 PMID:8408834 PMID:8663148 More... NCBI chr15:25,189,644...25,224,381
Ensembl chr15:25,189,663...25,228,066 		JBrowse link
xeroderma pigmentosum group C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group C ClinVar PMID:18414213 PMID:23400628 PMID:25741868 PMID:28492532 NCBI chr13:70,397,069...70,417,213
Ensembl chr13:70,393,227...70,417,168 		JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group C OMIM
ClinVar		 PMID:8298653 PMID:9536098 PMID:9804340 PMID:10766188 PMID:11511294 More... NCBI chr13:70,348,841...70,397,194
Ensembl chr13:70,348,864...70,397,772 		JBrowse link
xeroderma pigmentosum group D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group D ClinVar NCBI chr 6:51,783,537...51,808,898
Ensembl chr 6:51,783,478...51,798,984 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII | ClinVar Annotator: match by term: Xeroderma pigmentosum, group D OMIM
ClinVar		 PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9101292 More... NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553 		JBrowse link
G KLC3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group D ClinVar PMID:25741868 NCBI chr 6:51,727,891...51,735,753
Ensembl chr 6:51,727,904...51,735,754 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII ClinVar PMID:25741868 PMID:28492532 PMID:33471991 NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238 		JBrowse link
xeroderma pigmentosum group E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDB2 damage specific DNA binding protein 2 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group E OMIM
ClinVar		 PMID:8798680 PMID:10469312 PMID:10585395 PMID:10777490 PMID:12812979 More... NCBI chr 2:15,342,614...15,370,623
Ensembl chr 2:15,337,743...15,383,120 		JBrowse link
xeroderma pigmentosum group F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F | ClinVar Annotator: match by term: Xeroderma pigmentosum, type F/Cockayne syndrome OMIM
ClinVar		 PMID:8797827 PMID:9485007 PMID:9536098 PMID:9579555 PMID:9580660 More... NCBI chr 3:29,266,234...29,306,109
Ensembl chr 3:29,269,989...29,306,151 		JBrowse link
G MIR365-1 microRNA mir-365-1 ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr 3:28,908,137...28,908,216
Ensembl chr 3:28,908,129...28,908,219 		JBrowse link
G MRTFB myocardin related transcription factor B ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr 3:28,964,758...29,240,125
Ensembl chr 3:28,968,215...29,167,637 		JBrowse link
G PARN poly(A)-specific ribonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group F ClinVar PMID:28492532 NCBI chr 3:28,616,808...28,802,506
Ensembl chr 3:28,612,269...28,802,504 		JBrowse link
xeroderma pigmentosum group G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Xeroderma pigmentosum, group G OMIM
ClinVar		 PMID:492197 PMID:698095 PMID:7951246 PMID:9096355 PMID:10026181 More... NCBI chr11:71,141,823...71,168,326
Ensembl chr11:71,141,842...71,168,322 		JBrowse link
xeroderma pigmentosum variant type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLH DNA polymerase eta ISO ClinVar Annotator: match by term: Xeroderma pigmentosum variant type OMIM
ClinVar		 PMID:9536098 PMID:10385124 PMID:10398605 PMID:10871396 PMID:11121129 More... NCBI chr 7:38,569,211...38,601,794
Ensembl chr 7:38,567,788...38,601,790 		JBrowse link
G POLR1C RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Xeroderma pigmentosum variant type ClinVar PMID:9536098 PMID:10385124 PMID:10398605 PMID:10871396 PMID:11121129 More... NCBI chr 7:38,511,521...38,531,938
Ensembl chr 7:38,507,073...38,537,943 		JBrowse link
XFE progeroid syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO OMIM:610965 MouseDO NCBI chr 6:51,783,537...51,808,898
Ensembl chr 6:51,783,478...51,798,984 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: XFE progeroid syndrome OMIM
ClinVar		 PMID:8797827 PMID:9485007 PMID:9579555 PMID:15159313 PMID:15886521 More... NCBI chr 3:29,266,234...29,306,109
Ensembl chr 3:29,269,989...29,306,151 		JBrowse link
YAO SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOD2 nucleotide binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Yao syndrome OMIM
ClinVar		 PMID:11385576 PMID:11385577 PMID:11425413 PMID:11875755 PMID:11910337 More... NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534 		JBrowse link
Yunis-Varon syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FIG4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Yunis-Varon syndrome OMIM
ClinVar		 PMID:2319578 PMID:7496176 PMID:9536098 PMID:16199547 PMID:17572665 More... NCBI chr 1:75,694,151...75,847,021
Ensembl chr 1:75,694,151...75,847,528 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Yunis-Varon syndrome ClinVar PMID:17956977 PMID:28492532 PMID:28635952 NCBI chr 6:13,683,800...13,791,246
Ensembl chr 6:13,683,801...13,791,241 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    sensory system disease 6507
      skin disease 3703
        Genetic Skin Diseases 1778
          Actinic Prurigo 0
          Albinism + 94
          Annular Erythema 0
          Atrophia Maculosa Varioliformis Cutis, Familial 0
          Autoinflammation with Arthritis and Dyskeratosis 1
          Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 0
          Bloch-Sulzberger syndrome + 2
          Buschke-Ollendorff syndrome 2
          Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE 1
          Cutaneous Bullous Amyloidosis 0
          Defect in Hyaluronan Metabolism 0
          Dowling-Degos disease + 4
          Ehlers-Danlos syndrome + 245
          Familial Reactive Perforating Collagenosis 0
          Hailey-Hailey disease 1
          Hepatic Porphyrias + 21
          Hereditary Autoinflammatory Diseases + 333
          Hereditary Sclerosing Poikiloderma + 1
          Histiocytic Dermatoarthritis 0
          Isolated Osteopoikilosis 0
          Juvenile Spring Eruption of Ears 0
          Keratolytic Winter Erythema 1
          Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 1
          Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 0
          Muir-Torre syndrome 3
          Multiple Noduli Cutanei with Urinary Tract Abnormalities 0
          Oculotrichodysplasia 0
          Parana Hard Skin Syndrome 0
          Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 0
          Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 0
          Perioral Pigmented Follicular Atrophoderma with Milia and Epidermoid Cysts 0
          Progressive Vitiligo with Mental Retardation and Urethral Duplication 0
          Rothmund-Thomson syndrome + 3
          Sjogren-Larsson syndrome + 2
          Storm Syndrome 0
          Vohwinkel Syndrome, Variant Form 1
          X-linked ichthyosis + 3
          X-linked reticulate pigmentary disorder 1
          adermatoglyphia 1
          arterial tortuosity syndrome 6
          atopic dermatitis + 94
          autosomal recessive congenital ichthyosis + 49
          bullous congenital ichthyosiform erythroderma 3
          cherubism + 47
          cutaneous porphyria 4
          cutis laxa + 46
          dyschromatosis universalis hereditaria + 2
          dyskeratosis congenita + 318
          ectodermal dysplasia + 523
          epidermolysis bullosa + 88
          epidermolytic hyperkeratosis + 7
          erythrokeratodermia variabilis + 9
          geroderma osteodysplasticum 1
          hyaline fibromatosis syndrome 2
          ichthyosis vulgaris + 2
          keratosis follicularis + 4
          lipoid proteinosis 1
          monilethrix + 2
          orofaciodigital syndrome IX 2
          palmoplantar keratosis + 39
          peeling skin syndrome + 10
          plasminogen deficiency type I 1
          poikiloderma with neutropenia 1
          porokeratosis + 7
          primary cutaneous amyloidosis + 5
          progressive osseous heteroplasia 5
          prolidase deficiency 1
          pseudoxanthoma elasticum + 15
          spinocerebellar ataxia type 34 1
          stiff skin syndrome 1
          trichothiodystrophy + 11
          white sponge nevus + 2
          xeroderma pigmentosum + 18
Path 2
Term Annotations click to browse term
  disease 17412
    Pathological Conditions, Signs and Symptoms 11799
      Signs and Symptoms 9738
        Neurologic Manifestations 9418
          sensory system disease 6507
            skin disease 3703
              Genetic Skin Diseases 1778
                Actinic Prurigo 0
                Albinism + 94
                Annular Erythema 0
                Atrophia Maculosa Varioliformis Cutis, Familial 0
                Autoinflammation with Arthritis and Dyskeratosis 1
                Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 0
                Bloch-Sulzberger syndrome + 2
                Buschke-Ollendorff syndrome 2
                Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE 1
                Cutaneous Bullous Amyloidosis 0
                Defect in Hyaluronan Metabolism 0
                Dowling-Degos disease + 4
                Ehlers-Danlos syndrome + 245
                Familial Reactive Perforating Collagenosis 0
                Hailey-Hailey disease 1
                Hepatic Porphyrias + 21
                Hereditary Autoinflammatory Diseases + 333
                Hereditary Sclerosing Poikiloderma + 1
                Histiocytic Dermatoarthritis 0
                Isolated Osteopoikilosis 0
                Juvenile Spring Eruption of Ears 0
                Keratolytic Winter Erythema 1
                Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 1
                Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 0
                Muir-Torre syndrome 3
                Multiple Noduli Cutanei with Urinary Tract Abnormalities 0
                Oculotrichodysplasia 0
                Parana Hard Skin Syndrome 0
                Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 0
                Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 0
                Perioral Pigmented Follicular Atrophoderma with Milia and Epidermoid Cysts 0
                Progressive Vitiligo with Mental Retardation and Urethral Duplication 0
                Rothmund-Thomson syndrome + 3
                Sjogren-Larsson syndrome + 2
                Storm Syndrome 0
                Vohwinkel Syndrome, Variant Form 1
                X-linked ichthyosis + 3
                X-linked reticulate pigmentary disorder 1
                adermatoglyphia 1
                arterial tortuosity syndrome 6
                atopic dermatitis + 94
                autosomal recessive congenital ichthyosis + 49
                bullous congenital ichthyosiform erythroderma 3
                cherubism + 47
                cutaneous porphyria 4
                cutis laxa + 46
                dyschromatosis universalis hereditaria + 2
                dyskeratosis congenita + 318
                ectodermal dysplasia + 523
                epidermolysis bullosa + 88
                epidermolytic hyperkeratosis + 7
                erythrokeratodermia variabilis + 9
                geroderma osteodysplasticum 1
                hyaline fibromatosis syndrome 2
                ichthyosis vulgaris + 2
                keratosis follicularis + 4
                lipoid proteinosis 1
                monilethrix + 2
                orofaciodigital syndrome IX 2
                palmoplantar keratosis + 39
                peeling skin syndrome + 10
                plasminogen deficiency type I 1
                poikiloderma with neutropenia 1
                porokeratosis + 7
                primary cutaneous amyloidosis + 5
                progressive osseous heteroplasia 5
                prolidase deficiency 1
                pseudoxanthoma elasticum + 15
                spinocerebellar ataxia type 34 1
                stiff skin syndrome 1
                trichothiodystrophy + 11
                white sponge nevus + 2
                xeroderma pigmentosum + 18
paths to the root