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hair disease - Ontology Report - Rat Genome Database

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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:hair disease
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Accession:DOID:421 term browser browse the term
Definition:An integumentary system disease that is located_in hair. (DO)
Synonyms:exact_synonym: hair diseases
 primary_id: MESH:D006201
 xref: NCI:C34656
For additional species annotation, visit the Alliance of Genome Resources.

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show annotations for term's descendants           Sort by:
hair disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239484 NCBI chrNW_004936471:3,423,792...3,527,089
Ensembl chrNW_004936471:3,423,813...3,526,913 		JBrowse link
G Shoc2 SHOC2 leucine rich repeat scaffold protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19684605 NCBI chrNW_004936486:1,723,253...1,809,416 JBrowse link
alopecia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc2 ATP binding cassette subfamily C member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18381794 NCBI chrNW_004936636:292,631...341,999
Ensembl chrNW_004936636:292,709...340,393 		JBrowse link
G Ar androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15902657 NCBI chrNW_004936635:485,903...647,820
Ensembl chrNW_004936635:485,903...647,932 		JBrowse link
G Bdnf brain derived neurotrophic factor ISO protein:increased expression:dermal papilla: RGD PMID:21729031 RGD:8657081 NCBI chrNW_004936540:5,530,081...5,582,765
Ensembl chrNW_004936540:5,529,942...5,585,014 		JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25242322 NCBI chrNW_004936596:5,176,682...5,246,102
Ensembl chrNW_004936596:5,177,147...5,246,518 		JBrowse link
G Cdsn corneodesmosin ISO hypotrichosis simplex of the scalp, OMIM:146520 DNA:point_mutation:CDS:C643T or C598T -> amino acid Q215X or Q200X RGD PMID:12754508 RGD:1599783 NCBI chrNW_004936837:787,035...791,388
Ensembl chrNW_004936837:787,301...791,388 		JBrowse link
G Crh corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:21359208 NCBI chrNW_004936496:7,759,656...7,761,555
Ensembl chrNW_004936496:7,760,532...7,761,122 		JBrowse link
G Dsg4 desmoglein 4 ISO DNA:missense mutation:exon 8 (rat) RGD PMID:15617564 RGD:150521562 NCBI chrNW_004936682:1,803,862...1,829,352
Ensembl chrNW_004936682:1,803,862...1,841,396 		JBrowse link
G Esr2 estrogen receptor 2 susceptibility
no_association 		ISO DNA:snps:enhancer, intron g.-20301C>T, g.34493G>A, g.16688A>G (rs2022748, rs10137185, rs17101774) (human)
DNA:snps:multiple (human) 		RGD PMID:22014031 PMID:22509838 RGD:8694094 RGD:8694095 NCBI chrNW_004936495:7,956,168...8,018,356
Ensembl chrNW_004936495:7,956,766...8,004,357 		JBrowse link
G Far2 fatty acyl-CoA reductase 2 ISO OMIM:300042 MouseDO NCBI chrNW_004936760:1,265,803...1,406,405
Ensembl chrNW_004936760:1,362,364...1,409,418 		JBrowse link
G Foxn1 forkhead box N1 ISO T-cell immunodeficiency, congenital alopecia, and nail dystrophy, OMIM:601705 RGD PMID:10206641 RGD:1599846 NCBI chrNW_004936538:4,717,509...4,745,504
Ensembl chrNW_004936538:4,731,958...4,744,796 		JBrowse link
G Hr HR lysine demethylase and nuclear receptor corepressor ISO CTD Direct Evidence: marker/mechanism
alopecia universalis congenita, OMIM:203655 DNA:point_mutation:CDS:T3407A -> amino acid V1136D 		CTD
RGD		 PMID:9736769 PMID:16455232 RGD:1599575 NCBI chrNW_004936555:5,936,431...5,954,852
Ensembl chrNW_004936555:5,936,220...5,954,974 		JBrowse link
G Igf1 insulin like growth factor 1 ISO protein:decreased secretion:dermal papilla:
protein:increased expression:plasma: 		RGD PMID:10827403 PMID:24499417 RGD:8549462 RGD:8549500 NCBI chrNW_004936492:11,709,623...11,784,028
Ensembl chrNW_004936492:11,709,222...11,778,351 		JBrowse link
G Mlph melanophilin ISO Coat colour, dilution, MLPH-related OMIA PMID:591423 PMID:5019544 PMID:7725619 PMID:8257319 PMID:8533225 More... NCBI chrNW_004936525:776,102...821,067
Ensembl chrNW_004936525:775,955...821,085 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18381794 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193 		JBrowse link
G Parp1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20561897 NCBI chrNW_004936526:3,102,468...3,147,601
Ensembl chrNW_004936526:3,102,039...3,147,642 		JBrowse link
G Plcd1 phospholipase C delta 1 ISO RGD PMID:12805213 RGD:1302551 NCBI chrNW_004936473:27,364,404...27,387,337
Ensembl chrNW_004936473:27,364,389...27,387,412 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29367455 NCBI chrNW_004936541:7,845,876...7,863,677
Ensembl chrNW_004936541:7,845,676...7,863,709 		JBrowse link
G Prss8 serine protease 8 ISO DNA:deletion:cds:exon 3 (rat) RGD PMID:20201958 RGD:150520038 NCBI chrNW_004936501:13,487,863...13,491,837
Ensembl chrNW_004936501:13,485,310...13,491,905 		JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570889 NCBI chrNW_004936529:1,000,050...1,045,655
Ensembl chrNW_004936529:999,935...1,045,681 		JBrowse link
G Smarcd1 SWI/SNF related BAF chromatin remodeling complex subunit D1 ISO ClinVar Annotator: match by term: Alopecia, androgenetic, 1 ClinVar NCBI chrNW_004936512:7,747,066...7,759,943
Ensembl chrNW_004936512:7,747,481...7,758,271 		JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17136762 NCBI chrNW_004936493:1,663,999...1,708,530
Ensembl chrNW_004936493:1,663,911...1,708,502 		JBrowse link
G Supv3l1 Suv3 like RNA helicase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19145458 NCBI chrNW_004936521:9,237,081...9,264,441
Ensembl chrNW_004936521:9,237,120...9,264,358 		JBrowse link
G Tpmt thiopurine S-methyltransferase ISO RGD PMID:24322830 RGD:11038725 NCBI chrNW_004936552:3,899,445...3,917,774
Ensembl chrNW_004936552:3,897,375...3,917,772 		JBrowse link
G Trpv3 transient receptor potential cation channel subfamily V member 3 ISO DNA:missense mutation:cds:G1717T (rat) RGD PMID:16858425 RGD:150520053 NCBI chrNW_004936677:239,133...270,512
Ensembl chrNW_004936677:239,435...270,512 		JBrowse link
G Vdr vitamin D receptor ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:1338926 PMID:11713240 PMID:22466564 RGD:8157637 NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109 		JBrowse link
G Zdhhc13 zDHHC palmitoyltransferase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20548961 NCBI chrNW_004936654:220,391...267,383
Ensembl chrNW_004936654:220,337...269,094 		JBrowse link
G Zfp36 ZFP36 ring finger protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:15944294 NCBI chrNW_004936661:2,251,148...2,253,527
Ensembl chrNW_004936661:2,250,665...2,253,787 		JBrowse link
alopecia areata term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cchcr1 coiled-coil alpha-helical rod protein 1 ISO OMIM:104000 | OMIM:610753 MouseDO NCBI chrNW_004936837:809,958...821,604
Ensembl chrNW_004936837:809,921...821,608 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:3'UTR:rs3087243(human) 		CTD
RGD		 PMID:20596022 PMID:23567921 RGD:7411701 NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chrNW_004936676:60,869...63,028
Ensembl chrNW_004936676:60,621...63,106 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chrNW_004936676:33,580...40,323
Ensembl chrNW_004936676:32,128...40,329 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chrNW_004936762:66,636...69,694
Ensembl chrNW_004936762:66,636...69,373 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chrNW_004936659:520,181...565,496
Ensembl chrNW_004936659:520,493...565,416 		JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chrNW_004936727:1,648,451...1,663,294
Ensembl chrNW_004936727:1,648,448...1,663,455 		JBrowse link
G Hdac1 histone deacetylase 1 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chrNW_004936474:15,320,635...15,351,418
Ensembl chrNW_004936474:15,320,729...15,350,860 		JBrowse link
G Hdac2 histone deacetylase 2 ISO mRNA:decreased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chrNW_004936679:2,448,676...2,474,641
Ensembl chrNW_004936679:2,448,390...2,474,641 		JBrowse link
G Hdac7 histone deacetylase 7 ISO mRNA:decreased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chrNW_004936512:5,680,564...5,701,182
Ensembl chrNW_004936512:5,682,490...5,697,869 		JBrowse link
G Ikzf4 IKAROS family zinc finger 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chrNW_004936646:417,565...449,021
Ensembl chrNW_004936646:429,833...449,021 		JBrowse link
G Il18 interleukin 18 susceptibility ISO DNA:SNPs:promoter, exon:-137G>C (rs187238), rs549908 (human) RGD PMID:24446726 RGD:8655875 NCBI chrNW_004936612:2,306,963...2,325,086
Ensembl chrNW_004936612:2,306,875...2,325,189 		JBrowse link
G Il1rn interleukin 1 receptor antagonist severity ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) RGD PMID:8077705 RGD:6909137 NCBI chrNW_004936783:1,447,158...1,466,331
Ensembl chrNW_004936783:1,447,106...1,466,340 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:3261574 PMID:16297194 RGD:8663449 RGD:8663450 NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chrNW_004936484:8,514,333...8,555,392
Ensembl chrNW_004936484:8,544,062...8,555,332 		JBrowse link
G Kdm1a lysine demethylase 1A ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chrNW_004936474:8,262,913...8,319,089
Ensembl chrNW_004936474:8,262,885...8,319,092 		JBrowse link
G Kdm4a lysine demethylase 4A ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chrNW_004936474:25,002,527...25,056,642
Ensembl chrNW_004936474:25,002,509...25,056,642 		JBrowse link
G Kdm4b lysine demethylase 4B ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chrNW_004936588:2,908,970...3,005,625
Ensembl chrNW_004936588:2,908,899...3,005,674 		JBrowse link
G Kdm4c lysine demethylase 4C ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chrNW_004936539:1,198,105...1,580,078
Ensembl chrNW_004936539:1,198,147...1,580,082 		JBrowse link
G Kdm5a lysine demethylase 5A ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chrNW_004936606:486,424...570,546
Ensembl chrNW_004936606:485,655...570,739 		JBrowse link
G Notch4 notch receptor 4 ISO RGD PMID:12589427 RGD:6480681 NCBI chrNW_004936727:1,386,842...1,409,823 JBrowse link
G Prdx5 peroxiredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chrNW_004936599:4,894,409...4,897,426
Ensembl chrNW_004936599:4,894,409...4,897,223 		JBrowse link
G Ptpn22 protein tyrosine phosphatase non-receptor type 22 severity ISO DNA:snp:cds:c.1858C>T (human) RGD PMID:16829308 RGD:6484734 NCBI chrNW_004936690:2,180,804...2,232,869
Ensembl chrNW_004936690:2,181,047...2,232,958 		JBrowse link
G Stx17 syntaxin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chrNW_004936524:8,324,562...8,381,244
Ensembl chrNW_004936524:8,324,569...8,376,114 		JBrowse link
alopecia universalis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hr HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: ATRICHIA, GENERALIZED | ClinVar Annotator: match by term: Alopecia universalis | ClinVar Annotator: match by term: Alopecia universalis congenita | ClinVar Annotator: match by term: HR-related condition OMIM
ClinVar		 PMID:8357006 PMID:8790387 PMID:9445480 PMID:9736769 PMID:9758627 More... NCBI chrNW_004936555:5,936,431...5,954,852
Ensembl chrNW_004936555:5,936,220...5,954,974 		JBrowse link
Alopecia, Hypogonadism, Extrapyramidal Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcaf17 DDB1 and CUL4 associated factor 17 ISO ClinVar Annotator: match by term: Progressive extrapyramidal disorder with primary hypogonadism and alopecia ClinVar PMID:6876115 PMID:19026396 PMID:20507343 PMID:21964978 PMID:24015686 More... NCBI chrNW_004936509:1,678,831...1,716,856
Ensembl chrNW_004936509:1,678,988...1,720,418 		JBrowse link
G Mettl8 methyltransferase 8, tRNA N3-cytidine ISO ClinVar Annotator: match by term: Progressive extrapyramidal disorder with primary hypogonadism and alopecia ClinVar PMID:28492532 NCBI chrNW_004936509:1,590,583...1,678,680
Ensembl chrNW_004936509:1,591,348...1,652,673 		JBrowse link
alopecia, neurologic defects, and endocrinopathy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbm28 RNA binding motif protein 28 ISO ClinVar Annotator: match by term: ANE syndrome | ClinVar Annotator: match by term: RBM28-related condition OMIM
ClinVar		 PMID:18439547 PMID:25741868 PMID:28492532 NCBI chrNW_004936479:15,451,583...15,483,496
Ensembl chrNW_004936479:15,452,096...15,483,503 		JBrowse link
alopecia-mental retardation syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahsg alpha 2-HS glycoprotein ISO ClinVar Annotator: match by term: AHSG-related condition | ClinVar Annotator: match by term: Alopecia mental retardation syndrome 1 | ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 1 OMIM
ClinVar		 PMID:9003486 PMID:15592877 PMID:15806395 PMID:25741868 PMID:28054173 More... NCBI chrNW_004936578:3,332,934...3,339,903
Ensembl chrNW_004936578:3,332,934...3,339,903 		JBrowse link
alopecia-mental retardation syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnot1 CCR4-NOT transcription complex subunit 1 ISO ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 4 ClinVar PMID:25741868 NCBI chrNW_004936475:10,302,091...10,384,945
Ensembl chrNW_004936475:10,302,087...10,384,957 		JBrowse link
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 4 | ClinVar Annotator: match by term: Alopecia-mental retardation syndrome 4 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30401459 More... NCBI chrNW_004936778:323,120...351,100
Ensembl chrNW_004936778:323,014...351,102 		JBrowse link
Amaurosis Hypertrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936744:715,523...754,148
Ensembl chrNW_004936744:714,721...771,835 		JBrowse link
atrichia with papular lesions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hr HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Atrichia with papular lesions | ClinVar Annotator: match by term: Papular Atrichia OMIM
ClinVar		 PMID:8790387 PMID:9445480 PMID:9736769 PMID:9758627 PMID:9856480 More... NCBI chrNW_004936555:5,936,431...5,954,852
Ensembl chrNW_004936555:5,936,220...5,954,974 		JBrowse link
G Odc1 ornithine decarboxylase 1 ISO OMIM:209500 MouseDO NCBI chrNW_004936532:6,581,717...6,587,116 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 | ClinVar Annotator: match by term: ST14-related condition OMIM
ClinVar		 PMID:9450882 PMID:12207612 PMID:17273967 PMID:18263585 PMID:18445049 More... NCBI chrNW_004936572:2,137,820...2,182,674
Ensembl chrNW_004936572:2,137,332...2,182,742 		JBrowse link
Autosomal Recessive Woolly Hair term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt25 keratin 25 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936490:15,727,697...15,733,784
Ensembl chrNW_004936490:15,727,697...15,733,784 		JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Woolly hair, autosomal recessive 1, with or without hypotrichosis ClinVar PMID:18297072 PMID:18461368 PMID:19292720 PMID:21426374 PMID:25741868 More... NCBI chrNW_004936565:1,688,218...1,689,876
Ensembl chrNW_004936565:1,688,314...1,689,348 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Woolly hair, autosomal recessive 1, with or without hypotrichosis ClinVar PMID:18297072 PMID:18461368 PMID:19292720 PMID:21426374 PMID:25741868 More... NCBI chrNW_004936565:1,596,227...1,746,706
Ensembl chrNW_004936565:1,597,593...1,746,846 		JBrowse link
autosomal recessive woolly hair 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt25 keratin 25 ISO ClinVar Annotator: match by term: KRT25-related condition | ClinVar Annotator: match by term: WOOLLY HAIR, AUTOSOMAL RECESSIVE 3, WITH HYPOTRICHOSIS OMIM
ClinVar		 PMID:24824130 PMID:25741868 PMID:26160856 PMID:26902920 PMID:28492532 NCBI chrNW_004936490:15,727,697...15,733,784
Ensembl chrNW_004936490:15,727,697...15,733,784 		JBrowse link
Bamforth-Lazarus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16884476 NCBI chrNW_004936707:1,784,338...1,913,401
Ensembl chrNW_004936707:1,854,444...1,913,460 		JBrowse link
G Foxe1 forkhead box E1 ISO ClinVar Annotator: match by term: Bamforth-Lazarus syndrome OMIM
ClinVar		 PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:21177256 More... NCBI chrNW_004936524:6,619,128...6,620,278
Ensembl chrNW_004936524:6,619,128...6,620,278 		JBrowse link
Barber-Say syndrome 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: Barber-Say syndrome OMIM
ClinVar		 PMID:1867254 PMID:8368246 PMID:9674915 PMID:16650233 PMID:19760652 More... NCBI chrNW_004936745:2,067,272...2,067,948
Ensembl chrNW_004936745:2,028,286...2,067,948 		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 chrNW_004936658:3,920,043...3,932,987
Ensembl chrNW_004936658:3,920,043...3,932,987 		JBrowse link
Bjornstad syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101961358 mitochondrial chaperone BCS1 ISO ClinVar Annotator: match by term: Bjornstad syndrome with mild mitochondrial complex III deficiency | ClinVar Annotator: match by term: Pili torti-deafness syndrome OMIM
ClinVar		 PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chrNW_004936569:1,104,493...1,108,708
Ensembl chrNW_004936569:1,104,549...1,108,708 		JBrowse link
brachycephaly, trichomegaly, and developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps23 ribosomal protein S23 ISO ClinVar Annotator: match by term: Brachycephaly, trichomegaly, and developmental delay OMIM
ClinVar		 PMID:25741868 PMID:28257692 NCBI chrNW_004936469:1,523,667...1,525,830 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 | ClinVar Annotator: match by term: SASH1-related condition OMIM
ClinVar		 PMID:25315659 PMID:25741868 PMID:28492532 NCBI chrNW_004936489:1,569,143...1,740,398
Ensembl chrNW_004936489:1,447,885...1,740,400 		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 chrNW_004936534:4,707,658...4,871,865
Ensembl chrNW_004936534:4,709,064...4,871,023 		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 | ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair OMIM
ClinVar		 PMID:491020 PMID:2185974 PMID:2450378 PMID:3198322 PMID:8769422 More... NCBI chrNW_004936534:5,029,008...5,076,467
Ensembl chrNW_004936534:5,028,911...5,077,199 		JBrowse link
G Snrnp48 small nuclear ribonucleoprotein U11/U12 subunit 48 ISO ClinVar Annotator: match by term: Carvajal syndrome ClinVar PMID:28492532 NCBI chrNW_004936534:5,007,362...5,025,187
Ensembl chrNW_004936534:5,007,360...5,025,272 		JBrowse link
Central Centrifugal Cicatricial Alopecia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Padi3 peptidyl arginine deiminase 3 ISO ClinVar Annotator: match by term: Central centrifugal cicatricial alopecia ClinVar PMID:30763140 NCBI chrNW_004936474:4,165,597...4,191,449
Ensembl chrNW_004936474:4,165,597...4,191,449 		JBrowse link
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htra1 HtrA serine peptidase 1 ISO ClinVar Annotator: match by term: CARASIL | ClinVar Annotator: match by term: CARASIL syndrome | ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease | ClinVar Annotator: match by term: HTRA1-related cerebral small vessel disease OMIM
ClinVar		 PMID:11889251 PMID:18316707 PMID:19387015 PMID:20437615 PMID:21115960 More... NCBI chrNW_004936486:11,271,130...11,317,271
Ensembl chrNW_004936486:11,271,130...11,316,739 		JBrowse link
G Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: CARASIL ClinVar PMID:9536098 PMID:15737703 PMID:17576681 PMID:20142466 PMID:24500651 More... NCBI chrNW_004936809:902,938...967,771
Ensembl chrNW_004936809:911,764...966,839 		JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease ClinVar PMID:24500651 PMID:27148565 NCBI chrNW_004936531:9,129,024...9,134,916
Ensembl chrNW_004936531:9,129,715...9,130,515 		JBrowse link
Coffin-Siris syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chrNW_004936474:11,148,857...11,197,312 JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936489:8,811,094...9,202,423
Ensembl chrNW_004936489:9,087,697...9,205,203 		JBrowse link
G Kdm8 lysine demethylase 8 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chrNW_004936501:10,932,541...10,955,772
Ensembl chrNW_004936501:10,933,671...10,951,707 		JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability ClinVar PMID:18414213 PMID:28512736 NCBI chrNW_004936503:2,835,512...3,001,365
Ensembl chrNW_004936503:2,835,496...3,001,381 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:15756273 PMID:18414213 PMID:18437052 PMID:21280140 PMID:24448499 More... NCBI chrNW_004936659:1,152,846...1,246,718
Ensembl chrNW_004936659:1,169,792...1,249,213 		JBrowse link
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:10521299 PMID:16199547 PMID:21108436 PMID:21208904 PMID:22726846 More... NCBI chrNW_004936619:1,276,239...1,308,945
Ensembl chrNW_004936619:1,275,362...1,308,913 		JBrowse link
G Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22426308 NCBI chrNW_004936490:15,638,546...15,659,372
Ensembl chrNW_004936490:15,638,526...15,659,706 		JBrowse link
G Sox11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 PMID:26543203 NCBI chrNW_004937107:203,120...207,185 JBrowse link
Coffin-Siris syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 ClinVar PMID:22426308 PMID:25168959 PMID:25741868 PMID:28492532 NCBI chrNW_004936474:11,148,857...11,197,312 JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES
ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES
ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: ARID1B-related disorder | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12
ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 		OMIM
ClinVar		 PMID:1724113 PMID:9536098 PMID:10361086 PMID:15057123 PMID:16199547 More... NCBI chrNW_004936489:8,811,094...9,202,423
Ensembl chrNW_004936489:9,087,697...9,205,203 		JBrowse link
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004936512:4,020,303...4,199,390
Ensembl chrNW_004936512:4,020,966...4,196,459 		JBrowse link
G Bicra BRD4 interacting chromatin remodeling complex associated protein ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004936664:1,241,048...1,310,114
Ensembl chrNW_004936664:1,287,475...1,309,232 		JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 PMID:29429572 NCBI chrNW_004936599:4,063,030...4,078,159
Ensembl chrNW_004936599:4,062,764...4,078,228 		JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:22366787 PMID:22426308 PMID:22426309 PMID:25724810 PMID:25741868 NCBI chrNW_004936503:2,835,512...3,001,365
Ensembl chrNW_004936503:2,835,496...3,001,381 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004936659:1,152,846...1,246,718
Ensembl chrNW_004936659:1,169,792...1,249,213 		JBrowse link
G Smarcc2 SWI/SNF related BAF chromatin remodeling complex subunit C2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004936646:571,745...594,365
Ensembl chrNW_004936646:572,340...592,766 		JBrowse link
Coffin-Siris syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcd1 SWI/SNF related BAF chromatin remodeling complex subunit D1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 11 OMIM
ClinVar		 PMID:25741868 PMID:30879640 NCBI chrNW_004936512:7,747,066...7,759,943
Ensembl chrNW_004936512:7,747,481...7,758,271 		JBrowse link
Coffin-Siris syndrome 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicra BRD4 interacting chromatin remodeling complex associated protein ISO ClinVar Annotator: match by term: BICRA-related condition | ClinVar Annotator: match by term: Coffin-Siris syndrome 12 OMIM
ClinVar		 PMID:25741868 PMID:25741870 PMID:28492532 PMID:33232675 NCBI chrNW_004936664:1,241,048...1,310,114
Ensembl chrNW_004936664:1,287,475...1,309,232 		JBrowse link
Coffin-Siris syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn4 actinin alpha 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 More... NCBI chrNW_004936801:1,333,077...1,402,885
Ensembl chrNW_004936801:1,333,077...1,404,054 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 OMIM
ClinVar		 PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 More... NCBI chrNW_004936474:11,148,857...11,197,312 JBrowse link
G Hr HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:21919222 PMID:23548463 PMID:25741868 PMID:28492532 NCBI chrNW_004936555:5,936,431...5,954,852
Ensembl chrNW_004936555:5,936,220...5,954,974 		JBrowse link
Coffin-Siris syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Derl3 derlin 3 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chrNW_004936619:1,271,980...1,275,212
Ensembl chrNW_004936619:1,271,797...1,275,214 		JBrowse link
G Mmp11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chrNW_004936619:1,309,013...1,320,062
Ensembl chrNW_004936619:1,310,846...1,320,062 		JBrowse link
G Slc2a11 solute carrier family 2 member 11 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chrNW_004936619:1,228,408...1,250,772
Ensembl chrNW_004936619:1,225,891...1,250,585 		JBrowse link
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar
OMIM		 PMID:11161377 PMID:22426308 PMID:22726846 PMID:23196062 PMID:23637025 More... NCBI chrNW_004936619:1,276,239...1,308,945
Ensembl chrNW_004936619:1,275,362...1,308,913 		JBrowse link
Coffin-Siris syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 4 | ClinVar Annotator: match by term: SMARCA4-related BAFopathy | ClinVar Annotator: match by term: SMARCA4-related condition OMIM
ClinVar		 PMID:9536098 PMID:10601012 PMID:15756273 PMID:17576681 PMID:18414213 More... NCBI chrNW_004936659:1,152,846...1,246,718
Ensembl chrNW_004936659:1,169,792...1,249,213 		JBrowse link
Coffin-Siris syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 susceptibility ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 5 OMIM
ClinVar		 PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532 PMID:35980532 More... NCBI chrNW_004936490:15,638,546...15,659,372
Ensembl chrNW_004936490:15,638,526...15,659,706 		JBrowse link
Coffin-Siris syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: ARID2-related condition | ClinVar Annotator: match by term: Coffin-Siris syndrome 6 OMIM
ClinVar		 PMID:24728327 PMID:25741868 PMID:26238514 PMID:28124119 PMID:28492532 More... NCBI chrNW_004936512:4,020,303...4,199,390
Ensembl chrNW_004936512:4,020,966...4,196,459 		JBrowse link
G Gigyf1 GRB10 interacting GYF protein 1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 6 ClinVar PMID:25741868 PMID:35917186 NCBI chrNW_004936543:711,114...720,579
Ensembl chrNW_004936543:712,536...719,510 		JBrowse link
Coffin-Siris syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 7 | ClinVar Annotator: match by term: DPF2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29429572 PMID:29429672 PMID:31207137 NCBI chrNW_004936599:4,063,030...4,078,159
Ensembl chrNW_004936599:4,062,764...4,078,228 		JBrowse link
Coffin-Siris syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcc2 SWI/SNF related BAF chromatin remodeling complex subunit C2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 8 | ClinVar Annotator: match by term: SMARCC2-related condition OMIM
ClinVar		 PMID:23556151 PMID:25590979 PMID:25741868 PMID:27620904 PMID:28492532 More... NCBI chrNW_004936646:571,745...594,365
Ensembl chrNW_004936646:572,340...592,766 		JBrowse link
Coffin-Siris syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND WITH OR WITHOUT OCULAR MALFORMATIONS OR HYPOGONADOTROPIC HYPOGONADISM | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 27 | ClinVar Annotator: match by term: SOX11-related condition OMIM
ClinVar		 PMID:24886874 PMID:25741868 PMID:26543203 PMID:28492532 PMID:28787104 More... NCBI chrNW_004937107:203,120...207,185 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 chrNW_004936682:1,854,637...1,889,426
Ensembl chrNW_004936682:1,853,594...1,889,488 		JBrowse link
congenital hypotrichosis with juvenile macular dystrophy 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: Congenital hypotrichosis with juvenile macular dystrophy | ClinVar Annotator: match by term: Hypotrichosis with juvenile macular dystrophy OMIM
ClinVar		 PMID:10420194 PMID:11544476 PMID:12445216 PMID:14708629 PMID:15805154 More... NCBI chrNW_004936475:18,908,031...18,954,402
Ensembl chrNW_004936475:18,906,493...18,955,072 		JBrowse link
cortisone reductase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase ISO DNA:point mutation:CDS:p.R453Q (human)
CTD Direct Evidence: marker/mechanism 		RGD
CTD		 PMID:12858176 RGD:1625067 NCBI chrNW_004936623:3,359,624...3,376,598
Ensembl chrNW_004936623:3,351,716...3,375,146 		JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO DNA:insertion,transversion:intron:86557insA, 83597T>G (human)
CTD Direct Evidence: marker/mechanism 		RGD
CTD		 PMID:12858176 PMID:25526675 RGD:1625067 NCBI chrNW_004936557:3,358,809...3,403,461
Ensembl chrNW_004936557:3,357,016...3,403,714 		JBrowse link
cortisone reductase deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase ISO ClinVar Annotator: match by term: Cortisone reductase deficiency 1 | ClinVar Annotator: match by term: H6PD-related condition OMIM
ClinVar		 PMID:10522997 PMID:11150889 PMID:12858176 PMID:15827106 PMID:16091483 More... NCBI chrNW_004936623:3,359,624...3,376,598
Ensembl chrNW_004936623:3,351,716...3,375,146 		JBrowse link
cortisone reductase deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO ClinVar Annotator: match by term: Cortisone reductase deficiency 2 | ClinVar Annotator: match by term: HSD11B1-related condition OMIM
ClinVar		 PMID:21325058 PMID:25741868 PMID:28492532 NCBI chrNW_004936557:3,358,809...3,403,461
Ensembl chrNW_004936557:3,357,016...3,403,714 		JBrowse link
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripk4 receptor interacting serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Curly hair, ankyloblepharon, nail dysplasia syndrome | ClinVar Annotator: match by term: RIPK4-related condition OMIM
ClinVar		 PMID:23610050 PMID:25326635 PMID:25741868 PMID:26129644 PMID:28492532 More... NCBI chrNW_004936500:2,017,519...2,038,777
Ensembl chrNW_004936500:2,017,518...2,039,108 		JBrowse link
Cutaneous Telangiectasia and Cancer Syndrome, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atr ATR serine/threonine kinase ISO ClinVar Annotator: match by term: Cutaneous telangiectasia and cancer syndrome, familial | ClinVar Annotator: match by term: Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome OMIM
ClinVar		 PMID:9536098 PMID:15987455 PMID:17010193 PMID:17576681 PMID:18414213 More... NCBI chrNW_004936540:4,074,543...4,178,859
Ensembl chrNW_004936540:4,074,570...4,178,898 		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:11063735 PMID:12101406 PMID:12802069 More... NCBI chrNW_004936534:5,029,008...5,076,467
Ensembl chrNW_004936534:5,028,911...5,077,199 		JBrowse link
diphthamide deficiency syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph1 diphthamide biosynthesis 1 ISO ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair ClinVar PMID:25558065 PMID:25741868 PMID:29565416 PMID:30877278 PMID:32595695 More... NCBI chrNW_004936538:8,100,977...8,110,704
Ensembl chrNW_004936538:8,100,932...8,114,592 		JBrowse link
G Dph2 diphthamide biosynthesis 2 ISO ClinVar Annotator: match by term: diphthamide-deficiency syndrome ClinVar PMID:25741868 PMID:27421267 PMID:32576952 NCBI chrNW_004936474:25,288,714...25,292,287
Ensembl chrNW_004936474:25,288,250...25,293,382 		JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO ClinVar Annotator: match by term: EEF2-related condition ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936588:2,259,236...2,267,692
Ensembl chrNW_004936588:2,258,309...2,266,609 		JBrowse link
diphthamide deficiency syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph1 diphthamide biosynthesis 1 ISO ClinVar Annotator: match by term: DPH1-related condition | ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 OMIM
ClinVar		 PMID:14744934 PMID:24895408 PMID:25558065 PMID:25741868 PMID:26220823 More... NCBI chrNW_004936538:8,100,977...8,110,704
Ensembl chrNW_004936538:8,100,932...8,114,592 		JBrowse link
diphthamide deficiency syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph2 diphthamide biosynthesis 2 ISO ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 OMIM
ClinVar		 PMID:25741868 PMID:27421267 PMID:32576952 NCBI chrNW_004936474:25,288,714...25,292,287
Ensembl chrNW_004936474:25,288,250...25,293,382 		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 chrNW_004936777:1,545,293...1,561,109
Ensembl chrNW_004936777:1,238,272...1,557,410 		JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chrNW_004936635:1,303,855...1,335,766
Ensembl chrNW_004936635:1,303,858...1,337,868 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:25741868 NCBI chrNW_004936769:1,274,595...1,295,186
Ensembl chrNW_004936769:1,274,540...1,298,178 		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 3, Anhidrotic | 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 chrNW_004936829:335,977...397,252
Ensembl chrNW_004936829:335,967...397,235 		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 chrNW_004936829:429,667...458,943
Ensembl chrNW_004936829:429,561...458,943 		JBrowse link
G Edaradd EDAR associated via 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 PMID:25741868 NCBI chrNW_004936484:16,394,753...16,446,102
Ensembl chrNW_004936484:16,395,935...16,446,146 		JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chrNW_004936829:13,235...61,556
Ensembl chrNW_004936829:13,229...62,510 		JBrowse link
G Lims1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chrNW_004936829:187,234...240,213 JBrowse link
G LOC101970597 sulfotransferase 1C1 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chrNW_004936729:1,783,124...1,796,723
Ensembl chrNW_004936729:1,783,105...1,796,740 		JBrowse link
G Ranbp2 RAN binding protein 2 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 chrNW_004936829:261,017...333,910
Ensembl chrNW_004936829:261,129...332,999 		JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chrNW_004936729:1,511,648...1,534,042
Ensembl chrNW_004936729:1,511,836...1,536,200 		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: Autosomal recessive hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chrNW_004936829:335,977...397,252
Ensembl chrNW_004936829:335,967...397,235 		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:10431242 PMID:11279189 PMID:15373768 PMID:16029325 More... NCBI chrNW_004936829:429,667...458,943
Ensembl chrNW_004936829:429,561...458,943 		JBrowse link
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:25741868 NCBI chrNW_004936484:16,394,753...16,446,102
Ensembl chrNW_004936484:16,395,935...16,446,146 		JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chrNW_004936829:13,235...61,556
Ensembl chrNW_004936829:13,229...62,510 		JBrowse link
G Lims1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chrNW_004936829:187,234...240,213 JBrowse link
G LOC101970597 sulfotransferase 1C1 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chrNW_004936729:1,783,124...1,796,723
Ensembl chrNW_004936729:1,783,105...1,796,740 		JBrowse link
G Ranbp2 RAN binding protein 2 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:10431242 PMID:11279189 PMID:15373768 PMID:16029325 More... NCBI chrNW_004936829:261,017...333,910
Ensembl chrNW_004936829:261,129...332,999 		JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chrNW_004936729:1,511,648...1,534,042
Ensembl chrNW_004936729:1,511,836...1,536,200 		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 via death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant OMIM
ClinVar		 PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921 PMID:20979233 More... NCBI chrNW_004936484:16,394,753...16,446,102
Ensembl chrNW_004936484:16,395,935...16,446,146 		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 chrNW_004936829:429,667...458,943
Ensembl chrNW_004936829:429,561...458,943 		JBrowse link
G Edaradd EDAR associated via 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 chrNW_004936484:16,394,753...16,446,102
Ensembl chrNW_004936484:16,395,935...16,446,146 		JBrowse link
G Ranbp2 RAN binding protein 2 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 chrNW_004936829:261,017...333,910
Ensembl chrNW_004936829:261,129...332,999 		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 | ClinVar Annotator: match by term: KDF1-related condition OMIM
ClinVar		 PMID:25741868 PMID:27838789 PMID:28492532 NCBI chrNW_004936474:11,341,415...11,351,066
Ensembl chrNW_004936474:11,343,539...11,351,168 		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:30425301 NCBI chrNW_004936599:3,541,359...3,543,206
Ensembl chrNW_004936599:3,541,272...3,543,418 		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 chrNW_004936512:11,160,343...11,166,616 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 chrNW_004936809:1,269,900...1,285,853
Ensembl chrNW_004936809:1,269,914...1,285,889 		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:11224521 PMID:20412081 PMID:25741868 NCBI chrNW_004936809:1,280,254...1,306,964
Ensembl chrNW_004936809:1,257,654...1,301,813 		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 chrNW_004936809:1,269,900...1,285,853
Ensembl chrNW_004936809:1,269,914...1,285,889 		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:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... NCBI chrNW_004936809:1,280,254...1,306,964
Ensembl chrNW_004936809:1,257,654...1,301,813 		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 chrNW_004936494:8,968,704...9,080,620
Ensembl chrNW_004936494:8,968,704...9,080,620 		JBrowse link
G Cfl2 cofilin 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chrNW_004936494:8,946,442...8,948,320 JBrowse link
G LOC101965130 signal recognition particle 54 kDa protein ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chrNW_004936494:9,183,620...9,220,510
Ensembl chrNW_004936494:9,227,321...9,246,955
Ensembl chrNW_004936494:9,227,321...9,246,955 		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:12167702 PMID:14523047 PMID:15337789 PMID:17576681 More... NCBI chrNW_004936494:9,537,793...9,541,187
Ensembl chrNW_004936494:9,537,008...9,541,612 		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 chrNW_004936494:9,247,600...9,283,019
Ensembl chrNW_004936494:9,244,588...9,283,019 		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 chrNW_004936494:9,282,894...9,414,350 JBrowse link
G Psma6 proteasome 20S subunit alpha 6 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chrNW_004936494:9,443,176...9,467,697 JBrowse link
Eosinophilic Pustular Folliculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl26 C-C motif chemokine ligand 26 ISO protein:increased expression:skin, sebocyte (human) RGD PMID:22206772 RGD:11081159 NCBI chrNW_004936543:2,414,948...2,416,922
Ensembl chrNW_004936543:2,414,850...2,416,953 		JBrowse link
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnk4 potassium two pore domain channel subfamily K member 4 ISO ClinVar Annotator: match by term: Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | ClinVar Annotator: match by term: KCNK4-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30290154 NCBI chrNW_004936599:4,910,783...4,917,355
Ensembl chrNW_004936599:4,910,723...4,918,229 		JBrowse link
Facial Hypertrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Facial hypertrichosis ClinVar PMID:32581362 NCBI chrNW_004936809:902,938...967,771
Ensembl chrNW_004936809:911,764...966,839 		JBrowse link
familial isolated trichomegaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf5 fibroblast growth factor 5 ISO ClinVar Annotator: match by term: FGF5-related condition | ClinVar Annotator: match by term: Trichomegaly OMIM
ClinVar		 PMID:24989505 PMID:28492532 NCBI chrNW_004936749:1,741,425...1,761,799
Ensembl chrNW_004936749:1,741,519...1,761,831 		JBrowse link
familial woolly hair syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Liph lipase H ISO CTD Direct Evidence: marker/mechanism CTD PMID:23066499 NCBI chrNW_004936578:4,304,503...4,346,838
Ensembl chrNW_004936578:4,320,937...4,345,972 		JBrowse link
frontonasal dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO ClinVar Annotator: match by term: Frontonasal dysplasia 2 OMIM
ClinVar		 PMID:19692347 PMID:22140057 PMID:24668755 PMID:25741868 PMID:28492532 NCBI chrNW_004936562:4,316,550...4,326,022
Ensembl chrNW_004936562:4,314,870...4,326,000 		JBrowse link
GAPO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr1 ANTXR cell adhesion molecule 1 susceptibility ISO ClinVar Annotator: match by term: ANTXR1-related condition | ClinVar Annotator: match by term: GAPO syndrome ClinVar
OMIM		 PMID:9180938 PMID:9298746 PMID:23602711 PMID:24033266 PMID:25045128 More... NCBI chrNW_004936491:13,288,986...13,516,878
Ensembl chrNW_004936491:13,288,717...13,516,984 		JBrowse link
Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca5 ATP binding cassette subfamily A member 5 ISO ClinVar Annotator: match by term: ABCA5-related condition | ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis OMIM
ClinVar		 PMID:24831815 PMID:25741868 PMID:28492532 NCBI chrNW_004936541:8,467,035...8,549,893
Ensembl chrNW_004936541:8,463,436...8,539,942 		JBrowse link
GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zpr1 ZPR1 zinc finger ISO ClinVar Annotator: match by term: Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies OMIM
ClinVar		 PMID:25741868 PMID:29851065 NCBI chrNW_004936542:2,058,048...2,067,468
Ensembl chrNW_004936542:2,056,905...2,067,542 		JBrowse link
Hirsutism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Hirsutism ClinVar NCBI chrNW_004936489:8,811,094...9,202,423
Ensembl chrNW_004936489:9,087,697...9,205,203 		JBrowse link
G Kdm5c lysine demethylase 5C ISO ClinVar Annotator: match by term: Hirsutism ClinVar PMID:25741868 NCBI chrNW_004936751:159,628...204,136
Ensembl chrNW_004936751:167,920...203,966 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Hirsutism ClinVar PMID:22795537 PMID:25741868 PMID:25810209 PMID:28492532 PMID:28600779 More... NCBI chrNW_004936542:3,480,071...3,566,823
Ensembl chrNW_004936542:3,391,774...3,562,147 		JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Hirsutism ClinVar NCBI chrNW_004936691:716,723...767,960
Ensembl chrNW_004936691:716,697...768,016 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1324751 NCBI chrNW_004936493:7,060,747...7,065,276
Ensembl chrNW_004936493:7,061,587...7,065,109 		JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Hirsutism ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936624:3,897,878...4,005,664
Ensembl chrNW_004936624:3,897,791...4,000,558 		JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: Hirsutism ClinVar PMID:22366787 PMID:25741868 NCBI chrNW_004936503:2,835,512...3,001,365
Ensembl chrNW_004936503:2,835,496...3,001,381 		JBrowse link
hypertrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Hypertrichosis ClinVar PMID:25741868 NCBI chrNW_004936489:8,811,094...9,202,423
Ensembl chrNW_004936489:9,087,697...9,205,203 		JBrowse link
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Hypertrichosis ClinVar PMID:21706002 PMID:25741868 NCBI chrNW_004936485:19,218,494...19,297,188
Ensembl chrNW_004936485:19,227,400...19,298,912 		JBrowse link
G Naglu N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: Hypertrichosis ClinVar PMID:8650226 PMID:9443875 PMID:9443878 PMID:9832037 PMID:9950362 More... NCBI chrNW_004936490:17,305,033...17,312,167
Ensembl chrNW_004936490:17,304,586...17,314,521 		JBrowse link
G Slc29a3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19336477 PMID:20140240 NCBI chrNW_004936521:7,417,914...7,452,695
Ensembl chrNW_004936521:7,418,184...7,452,695 		JBrowse link
hypertrichotic osteochondrodysplasia Cantu type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type OMIM
ClinVar		 PMID:9536098 PMID:10398267 PMID:15034580 PMID:16199547 PMID:16835932 More... NCBI chrNW_004936548:4,983,461...5,110,693
Ensembl chrNW_004936548:4,987,847...5,108,104 		JBrowse link
G Kcnj8 potassium inwardly rectifying channel subfamily J member 8 ISO ClinVar Annotator: match by term: Cantu syndrome | ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type ClinVar PMID:24176758 PMID:24700710 PMID:25741868 PMID:28492532 PMID:32215968 NCBI chrNW_004936548:5,125,583...5,132,490
Ensembl chrNW_004936548:5,125,555...5,133,078 		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 chrNW_004936777:1,545,293...1,561,109
Ensembl chrNW_004936777:1,238,272...1,557,410 		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 chrNW_004936829:429,667...458,943
Ensembl chrNW_004936829:429,561...458,943 		JBrowse link
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:20222921 PMID:20979233 PMID:21626677 PMID:25741868 PMID:28492532 NCBI chrNW_004936484:16,394,753...16,446,102
Ensembl chrNW_004936484:16,395,935...16,446,146 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More... NCBI chrNW_004936829:261,017...333,910
Ensembl chrNW_004936829:261,129...332,999 		JBrowse link
G Traf6 TNF receptor associated factor 6 ISO OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO NCBI chrNW_004936533:1,857,685...1,874,973
Ensembl chrNW_004936533:1,857,666...1,876,120 		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 chrNW_004936569:1,309,140...1,321,923
Ensembl chrNW_004936569:1,309,106...1,321,931 		JBrowse link
hypotrichosis 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: Hypotrichosis ClinVar PMID:25741868 NCBI chrNW_004936475:18,908,031...18,954,402
Ensembl chrNW_004936475:18,906,493...18,955,072 		JBrowse link
G Dsg4 desmoglein 4 ISO DNA:deletion
DNA:missense mutation:exon 8 (rat) 		RGD PMID:15081105 PMID:15191570 PMID:15606503 PMID:15617564 RGD:1302434 RGD:150521560 RGD:150521562 RGD:1599796 NCBI chrNW_004936682:1,803,862...1,829,352
Ensembl chrNW_004936682:1,803,862...1,841,396 		JBrowse link
G Liph lipase H ISO ClinVar Annotator: match by term: Woolly hair, autosomal recessive 2, with or without hypotrichosis ClinVar PMID:17333281 PMID:18445047 PMID:18820939 PMID:18830268 PMID:19365138 More... NCBI chrNW_004936578:4,304,503...4,346,838
Ensembl chrNW_004936578:4,320,937...4,345,972 		JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18297072 NCBI chrNW_004936565:1,688,218...1,689,876
Ensembl chrNW_004936565:1,688,314...1,689,348 		JBrowse link
G Rpl21 ribosomal protein L21 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936472:22,523,470...22,538,299 JBrowse link
G Sgk3 serum/glucocorticoid regulated kinase family member 3 ISO Hypotrichosis, recessive OMIA PMID:3367039 PMID:17083571 PMID:27994129 PMID:30927068 PMID:31727632 More... NCBI chrNW_004936496:7,196,936...7,287,367
Ensembl chrNW_004936496:7,195,777...7,265,186 		JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936567:849,300...855,214
Ensembl chrNW_004936567:849,397...855,187 		JBrowse link
hypotrichosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apcdd1 APC down-regulated 1 ISO ClinVar Annotator: match by term: APCDD1-related condition | ClinVar Annotator: match by term: Hypotrichosis 1 OMIM
ClinVar		 PMID:10878665 PMID:20393562 PMID:22512811 PMID:28492532 NCBI chrNW_004936626:1,217,240...1,237,741
Ensembl chrNW_004936626:1,216,323...1,237,792 		JBrowse link
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: Hypotrichosis simplex ClinVar NCBI chrNW_004936475:18,908,031...18,954,402
Ensembl chrNW_004936475:18,906,493...18,955,072 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Hypotrichosis simplex ClinVar PMID:7920640 PMID:8571952 PMID:9238033 PMID:9651581 PMID:19931493 More... NCBI chrNW_004936706:1,816,561...1,829,638
Ensembl chrNW_004936706:1,816,571...1,829,692 		JBrowse link
G Liph lipase H ISO ClinVar Annotator: match by term: Hypotrichosis simplex ClinVar PMID:18830268 PMID:19892526 PMID:20213768 PMID:21352330 PMID:22449147 More... NCBI chrNW_004936578:4,304,503...4,346,838
Ensembl chrNW_004936578:4,320,937...4,345,972 		JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18297070 NCBI chrNW_004936565:1,688,218...1,689,876
Ensembl chrNW_004936565:1,688,314...1,689,348 		JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E ISO DNA:snp:cds:c.1A>G (human) RGD PMID:23246290 RGD:10768831 NCBI chrNW_004936567:849,300...855,214
Ensembl chrNW_004936567:849,397...855,187 		JBrowse link
hypotrichosis 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snrpe small nuclear ribonucleoprotein polypeptide E ISO ClinVar Annotator: match by term: Hypotrichosis 11 OMIM
ClinVar		 PMID:9621144 PMID:23246290 PMID:25741868 PMID:28492532 PMID:33792916 NCBI chrNW_004936567:849,300...855,214
Ensembl chrNW_004936567:849,397...855,187 		JBrowse link
hypotrichosis 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl21 ribosomal protein L21 ISO ClinVar Annotator: match by term: Hypotrichosis 12 OMIM
ClinVar		 PMID:19751230 PMID:21412954 NCBI chrNW_004936472:22,523,470...22,538,299 JBrowse link
hypotrichosis 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: Hypotrichosis 14 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30401459 PMID:30723320 PMID:33155697 More... NCBI chrNW_004936778:323,120...351,100
Ensembl chrNW_004936778:323,014...351,102 		JBrowse link
hypotrichosis 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH3orf52 chromosome unknown C3orf52 homolog ISO ClinVar Annotator: match by term: Hypotrichosis 15 ClinVar
OMIM		 PMID:25741868 PMID:32336749 PMID:34309526 NCBI chrNW_004936834:883,481...917,586
Ensembl chrNW_004936834:883,444...915,538 		JBrowse link
hypotrichosis 2 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: CDSN-related condition | ClinVar Annotator: match by term: Hypotrichosis 2 OMIM
ClinVar		 PMID:3652491 PMID:10793007 PMID:12754508 PMID:25741868 PMID:28492532 NCBI chrNW_004936837:787,035...791,388
Ensembl chrNW_004936837:787,301...791,388 		JBrowse link
hypotrichosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hr HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Hypotrichosis 4 ClinVar PMID:10777357 PMID:10854110 PMID:11069461 PMID:17680008 PMID:19122663 More... NCBI chrNW_004936555:5,936,431...5,954,852
Ensembl chrNW_004936555:5,936,220...5,954,974 		JBrowse link
hypotrichosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eps8l3 EPS8 signaling adaptor L3 ISO ClinVar Annotator: match by term: EPS8L3-related condition | ClinVar Annotator: match by term: Hypotrichosis 5 OMIM
ClinVar		 PMID:15347323 PMID:23099647 PMID:25741868 PMID:28492532 NCBI chrNW_004936704:1,241,341...1,251,702 JBrowse link
hypotrichosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg4 desmoglein 4 ISO ClinVar Annotator: match by term: DSG4-related condition | ClinVar Annotator: match by term: Hypotrichosis 6 OMIM
ClinVar		 PMID:12705872 PMID:15191570 PMID:16439973 PMID:16543896 PMID:16575393 More... NCBI chrNW_004936682:1,803,862...1,829,352
Ensembl chrNW_004936682:1,803,862...1,841,396 		JBrowse link
hypotrichosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Liph lipase H ISO ClinVar Annotator: match by term: Hypotrichosis 7 | ClinVar Annotator: match by term: LIPH-related condition OMIM
ClinVar		 PMID:17095700 PMID:17333281 PMID:18445047 PMID:18830268 PMID:19365138 More... NCBI chrNW_004936578:4,304,503...4,346,838
Ensembl chrNW_004936578:4,320,937...4,345,972 		JBrowse link
hypotrichosis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt25 keratin 25 ISO ClinVar Annotator: match by term: HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 3 ClinVar PMID:24824130 PMID:26160856 NCBI chrNW_004936490:15,727,697...15,733,784
Ensembl chrNW_004936490:15,727,697...15,733,784 		JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Hypotrichosis 8 OMIM
ClinVar		 PMID:18297070 PMID:18297072 PMID:18461368 PMID:18692127 PMID:19292720 More... NCBI chrNW_004936565:1,688,218...1,689,876
Ensembl chrNW_004936565:1,688,314...1,689,348 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Hypotrichosis 8 ClinVar PMID:18297070 PMID:18297072 PMID:18461368 PMID:18692127 PMID:19292720 More... NCBI chrNW_004936565:1,596,227...1,746,706
Ensembl chrNW_004936565:1,597,593...1,746,846 		JBrowse link
Hypotrichosis and Recurrent Skin Vesicles term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsc3 desmocollin 3 ISO ClinVar Annotator: match by term: DSC3-related condition | ClinVar Annotator: match by term: Hypotrichosis and recurrent skin vesicles OMIM
ClinVar		 PMID:16199547 PMID:18682494 PMID:19765682 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936682:2,126,394...2,161,672
Ensembl chrNW_004936682:2,057,190...2,164,429 		JBrowse link
hypotrichosis-lymphedema-telangiectasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox18 SRY-box transcription factor 18 ISO ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia syndrome | ClinVar Annotator: match by term: SOX18-related condition OMIM
ClinVar		 PMID:11701398 PMID:12740761 PMID:24697860 PMID:25741868 PMID:26148450 More... NCBI chrNW_004936514:11,231,327...11,233,292
Ensembl chrNW_004936514:11,231,305...11,233,337 		JBrowse link
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox18 SRY-box transcription factor 18 ISO ClinVar Annotator: match by term: Glomerulonephritis with sparse hair and telangiectases | ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome OMIM
ClinVar		 PMID:2484451 PMID:12740761 PMID:24697860 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936514:11,231,327...11,233,292
Ensembl chrNW_004936514:11,231,305...11,233,337 		JBrowse link
Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: IFAP syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:31790666 PMID:32497488 PMID:32902915 PMID:33253727 NCBI chrNW_004936741:1,408,669...1,419,717
Ensembl chrNW_004936741:1,406,521...1,419,776 		JBrowse link
ichthyosis follicularis-alopecia-photophobia syndrome 1 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: IFAP syndrome 1, with or without BRESHECK syndrome ClinVar PMID:25741868 PMID:28492532 PMID:30431684 PMID:35396755 NCBI chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929 		JBrowse link
G Mbtps2 membrane bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA WITH OR WITHOUT BRAIN ANOMALIES, RETARDATION, ECTODERMAL DYSPLASIA, SKELETAL MALFORMATIONS, HIRSCHSPRUNG DISEASE, EAR/EYE ANOMALIES, CLEFT PALATE/CRYPTORCHIDISM, AND KIDNEY DYSPLASIA/HYPOPLASIA | ClinVar Annotator: match by term: IFAP syndrome 1, with or without BRESHECK syndrome OMIM
ClinVar		 PMID:10694306 PMID:19361614 PMID:21426410 PMID:22105905 PMID:24090718 More... NCBI chrNW_004936624:2,464,152...2,510,984
Ensembl chrNW_004936624:2,463,909...2,511,158 		JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: IFAP syndrome 1, with or without BRESHECK syndrome ClinVar PMID:25741868 PMID:31790666 PMID:32497488 PMID:32902915 PMID:33253727 NCBI chrNW_004936741:1,408,669...1,419,717
Ensembl chrNW_004936741:1,406,521...1,419,776 		JBrowse link
G Yy2 YY2 transcription factor ISO ClinVar Annotator: match by term: IFAP syndrome 1, with or without BRESHECK syndrome ClinVar PMID:25741868 NCBI chrNW_004936624:2,487,983...2,489,630 JBrowse link
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn1 claudin 1 ISO ClinVar Annotator: match by term: CLDN1-related condition | ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome OMIM
ClinVar		 PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936578:98,489...113,125
Ensembl chrNW_004936578:98,273...113,153 		JBrowse link
G Cldn16 claudin 16 ISO ClinVar Annotator: match by term: CLDN1-related condition | ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome ClinVar PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936578:5,774...25,621
Ensembl chrNW_004936578:5,774...25,350 		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 ClinVar
OMIM		 PMID:34999892 NCBI chrNW_004936625:2,313,232...2,325,739
Ensembl chrNW_004936625:2,312,472...2,325,799 		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: MACS SYNDROME | 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 chrNW_004936485:377,562...556,611
Ensembl chrNW_004936485:377,396...556,616 		JBrowse link
mandibulofacial dysostosis with alopecia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednra endothelin receptor type A ISO ClinVar Annotator: match by term: Mandibulofacial dysostosis with alopecia OMIM
ClinVar		 PMID:16116593 PMID:20583178 PMID:25741868 PMID:25772936 PMID:28492532 NCBI chrNW_004936535:1,950,117...2,005,786
Ensembl chrNW_004936535:1,949,941...2,005,910 		JBrowse link
Menkes disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha severity ISO ClinVar Annotator: match by term: Menkes Disease | ClinVar Annotator: match by term: Menkes kinky-hair syndrome
ClinVar Annotator: match by term: Menkes Disease | ClinVar Annotator: match by term: Menkes disease, copper-replacement responsive | ClinVar Annotator: match by term: Menkes kinky-hair syndrome
DNA:duplication:exon: 		OMIM
ClinVar
RGD		 PMID:7842019 PMID:7977350 PMID:8528242 PMID:8812725 PMID:8981948 More... RGD:12879459 NCBI chrNW_004936683:2,874,022...2,936,214
Ensembl chrNW_004936683:2,874,042...2,935,040 		JBrowse link
G Atrx ATRX chromatin remodeler ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:11241493 PMID:15591283 PMID:18409179 PMID:20652413 PMID:23681356 More... NCBI chrNW_004936683:2,496,307...2,718,539
Ensembl chrNW_004936683:2,495,959...2,718,620 		JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22243965 NCBI chrNW_004936519:6,431,156...6,473,183
Ensembl chrNW_004936519:6,431,144...6,481,858 		JBrowse link
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:25741868 NCBI chrNW_004936712:413,602...454,443
Ensembl chrNW_004936712:414,446...454,449 		JBrowse link
G LOC101967130 cytochrome c oxidase subunit 7B, mitochondrial ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:11241493 PMID:15591283 PMID:18409179 PMID:20652413 PMID:23681356 More... NCBI chrNW_004936683:2,781,614...2,787,570
Ensembl chrNW_004936683:2,781,623...2,787,570 		JBrowse link
G Lox lysyl oxidase ISO OMIM:309400 RGD
MouseDO		 PMID:8638917 RGD:1581895 NCBI chrNW_004936575:2,526,067...2,533,996
Ensembl chrNW_004936575:2,524,342...2,533,559 		JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:11241493 PMID:15591283 PMID:18409179 PMID:20652413 PMID:23681356 More... NCBI chrNW_004936683:2,737,545...2,775,679
Ensembl chrNW_004936683:2,735,217...2,775,679 		JBrowse link
G Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:28492532 NCBI chrNW_004936547:286,267...310,062
Ensembl chrNW_004936547:286,267...310,062 		JBrowse link
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cars1 cysteinyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly, developmental delay, and brittle hair syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30824121 NCBI chrNW_004936794:1,115,111...1,165,286
Ensembl chrNW_004936794:1,115,257...1,165,270 		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: PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR OMIM
ClinVar		 PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:16722579 More... NCBI chrNW_004936490:16,671,176...16,694,552
Ensembl chrNW_004936490:16,668,575...16,694,615 		JBrowse link
Neurodevelopmental Disorder with Alopecia and Brain Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Odc1 ornithine decarboxylase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with alopecia and brain abnormalities | ClinVar Annotator: match by term: ODC1-related condition OMIM
ClinVar		 PMID:25741868 PMID:30239107 PMID:30475435 PMID:34477286 NCBI chrNW_004936532:6,581,717...6,587,116 JBrowse link
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph5 diphthamide biosynthesis 5 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties ClinVar
OMIM		 PMID:25741868 PMID:35482014 NCBI chrNW_004936748:1,000,247...1,032,966
Ensembl chrNW_004936748:996,321...1,033,533 		JBrowse link
G Slc30a7 solute carrier family 30 member 7 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties ClinVar PMID:25741868 PMID:35482014 NCBI chrNW_004936748:910,542...985,601
Ensembl chrNW_004936748:910,511...987,094 		JBrowse link
Nicolaides-Baraitser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chrNW_004936489:8,811,094...9,202,423
Ensembl chrNW_004936489:9,087,697...9,205,203 		JBrowse link
G Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chrNW_004936844:101,815...271,254
Ensembl chrNW_004936844:160,833...271,901 		JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chrNW_004936844:284,938...314,524
Ensembl chrNW_004936844:284,141...314,545 		JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: Intellectual disability-sparse hair-brachydactyly syndrome | ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome | ClinVar Annotator: match by term: SMARCA2-related BAFopathy | ClinVar Annotator: match by term: SMARCA2-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19606471 PMID:22366787 More... NCBI chrNW_004936503:2,835,512...3,001,365
Ensembl chrNW_004936503:2,835,496...3,001,381 		JBrowse link
Noonan syndrome-like disorder with loose anagen hair term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shoc2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Noonan-like syndrome with loose anagen hair ClinVar PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 More... NCBI chrNW_004936486:1,723,253...1,809,416 JBrowse link
Noonan syndrome-like disorder with loose anagen hair 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shoc2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: MAZZANTI SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 1 | ClinVar Annotator: match by term: SHOC2-related condition | ClinVar Annotator: match by term: TOSTI SYNDROME OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19684605 PMID:20882035 More... NCBI chrNW_004936486:1,723,253...1,809,416 JBrowse link
Noonan syndrome-like disorder with loose anagen hair 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp1cb protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 2 | ClinVar Annotator: match by term: PPP1CB-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:25741869 PMID:27264673 PMID:27681385 More... NCBI chrNW_004936493:3,981,364...4,002,083
Ensembl chrNW_004936493:3,981,370...4,002,667 		JBrowse link
Oliver-McFarlane syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla6 patatin like domain 6, lysophospholipase ISO ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome OMIM
ClinVar		 PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:23733235 More... NCBI chrNW_004936588:4,608,856...4,632,198
Ensembl chrNW_004936588:4,608,963...4,632,183 		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:19338053 PMID:25168385 PMID:25327171 More... NCBI chrNW_004936658:3,920,043...3,932,987
Ensembl chrNW_004936658:3,920,043...3,932,987 		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: Woolly hair-skin fragility syndrome
ClinVar Annotator: match by term: Palmoplantar keratoderma and woolly hair | ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome 		ClinVar PMID:2450378 PMID:3198322 PMID:9536098 PMID:10395892 PMID:12101406 More... NCBI chrNW_004936534:5,029,008...5,076,467
Ensembl chrNW_004936534:5,028,911...5,077,199 		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 chrNW_004936659:1,320,169...1,340,137
Ensembl chrNW_004936659:1,321,980...1,337,746 		JBrowse link
G Tuft1 tuftelin 1 ISO ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome ClinVar PMID:36689522 NCBI chrNW_004936580:1,746,957...1,788,989
Ensembl chrNW_004936580:1,761,526...1,788,695 		JBrowse link
photosensitive trichothiodystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cirop ciliated left-right organizer metallopeptidase ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar PMID:25741868
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 chrNW_004936706:1,816,561...1,829,638
Ensembl chrNW_004936706:1,816,571...1,829,692 		JBrowse link
G Mplkip M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chrNW_004936478:15,421,612...15,423,894
Ensembl chrNW_004936478:15,420,463...15,423,946 		JBrowse link
Pili Torti, Developmental Delay, Neurological Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hephl1 hephaestin like 1 ISO ClinVar Annotator: match by term: HEPHL1-related condition | ClinVar Annotator: match by term: Pili torti and developmental delay OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31125343 NCBI chrNW_004936674:778,160...846,119
Ensembl chrNW_004936674:778,160...846,119 		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 chrNW_004936569:1,309,140...1,321,923
Ensembl chrNW_004936569:1,309,106...1,321,931 		JBrowse link
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Poc1a POC1 centriolar protein A ISO ClinVar Annotator: match by term: POC1A-related condition | ClinVar Annotator: match by term: SOFT SYNDROME | ClinVar Annotator: match by term: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis OMIM
ClinVar		 PMID:18414213 PMID:22440536 PMID:22840363 PMID:22840364 PMID:25558065 More... NCBI chrNW_004936529:3,423,588...3,495,698
Ensembl chrNW_004936529:3,422,788...3,495,655 		JBrowse link
spondyloepimetaphyseal dysplasia, Genevieve-type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nans N-acetylneuraminate synthase ISO ClinVar Annotator: match by term: NANS-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type OMIM
ClinVar		 PMID:15726110 PMID:25741868 PMID:27213289 PMID:28492532 PMID:34163424 NCBI chrNW_004936524:6,772,831...6,791,854
Ensembl chrNW_004936524:6,772,796...6,791,902 		JBrowse link
G Trim14 tripartite motif containing 14 ISO ClinVar Annotator: match by term: NANS-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type ClinVar PMID:15726110 PMID:25741868 PMID:27213289 PMID:28492532 PMID:34163424 NCBI chrNW_004936524:6,797,788...6,816,582
Ensembl chrNW_004936524:6,797,762...6,816,607 		JBrowse link
T-cell immunodeficiency, congenital alopecia, and nail dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxn1 forkhead box N1 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, congenital alopecia, and nail dystrophy OMIM
ClinVar		 PMID:8911612 PMID:9536098 PMID:10206641 PMID:15180707 PMID:15897400 More... NCBI chrNW_004936538:4,717,509...4,745,504
Ensembl chrNW_004936538:4,731,958...4,744,796 		JBrowse link
trichodontoosseous syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc3 ATP binding cassette subfamily C member 3 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:11,039,968...11,086,670
Ensembl chrNW_004936490:11,040,445...11,086,566 		JBrowse link
G Abi3 ABI family member 3 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:12,280,717...12,290,602
Ensembl chrNW_004936490:12,276,239...12,290,793 		JBrowse link
G Acsf2 acyl-CoA synthetase family member 2 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:11,234,623...11,268,146
Ensembl chrNW_004936490:11,234,626...11,269,615 		JBrowse link
G Ankrd40 ankyrin repeat domain 40 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:11,022,644...11,038,461
Ensembl chrNW_004936490:11,022,545...11,039,652 		JBrowse link
G Atp5mc1 ATP synthase membrane subunit c locus 1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:12,549,045...12,551,895
Ensembl chrNW_004936490:12,548,813...12,552,278 		JBrowse link
G B4galnt2 beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group) ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:12,317,483...12,342,934
Ensembl chrNW_004936490:12,317,496...12,341,671 		JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:11,093,600...11,157,756
Ensembl chrNW_004936490:11,093,595...11,157,563 		JBrowse link
G Calcoco2 calcium binding and coiled-coil domain 2 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:12,576,752...12,609,273 JBrowse link
G Chad chondroadherin ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:11,240,487...11,244,422
Ensembl chrNW_004936490:11,240,419...11,245,935 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444 		JBrowse link
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: TDO syndrome | ClinVar Annotator: match by term: Tricho-dento-osseous syndrome OMIM
ClinVar		 PMID:9467018 PMID:9783705 PMID:17950683 PMID:18492670 PMID:20510228 More... NCBI chrNW_004936490:11,625,862...11,630,035
Ensembl chrNW_004936490:11,625,862...11,631,131 		JBrowse link
G Dlx4 distal-less homeobox 4 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:11,645,787...11,650,273
Ensembl chrNW_004936490:11,645,787...11,650,273 		JBrowse link
G Eme1 essential meiotic structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:11,307,739...11,316,203
Ensembl chrNW_004936490:11,308,393...11,314,785 		JBrowse link
G Epn3 epsin 3 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:11,174,552...11,184,516
Ensembl chrNW_004936490:11,174,276...11,184,517 		JBrowse link
G Fam117a family with sequence similarity 117 member A ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:11,824,577...11,869,347
Ensembl chrNW_004936490:11,824,547...11,869,349 		JBrowse link
G Gip gastric inhibitory polypeptide ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:12,487,025...12,492,214
Ensembl chrNW_004936490:12,487,025...12,492,214 		JBrowse link
G Gngt2 G protein subunit gamma transducin 2 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:12,292,462...12,294,302
Ensembl chrNW_004936490:12,292,457...12,294,199 		JBrowse link
G Hoxb13 homeobox B13 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:12,688,572...12,690,908
Ensembl chrNW_004936490:12,688,559...12,690,908 		JBrowse link
G Igf2bp1 insulin like growth factor 2 mRNA binding protein 1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:12,430,343...12,468,794
Ensembl chrNW_004936490:12,430,008...12,469,083 		JBrowse link
G Itga3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:11,553,904...11,583,387
Ensembl chrNW_004936490:11,553,861...11,583,380 		JBrowse link
G Kat7 lysine acetyltransferase 7 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:11,775,224...11,805,489
Ensembl chrNW_004936490:11,772,046...11,805,759 		JBrowse link
G Lrrc59 leucine rich repeat containing 59 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:11,296,590...11,308,379
Ensembl chrNW_004936490:11,296,530...11,310,946 		JBrowse link
G Luc7l3 LUC7 like 3 pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:10,980,398...11,011,671
Ensembl chrNW_004936490:10,976,147...11,011,676 		JBrowse link
G Mrpl27 mitochondrial ribosomal protein L27 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:11,316,243...11,321,673
Ensembl chrNW_004936490:11,316,169...11,322,515 		JBrowse link
G Mycbpap MYCBP associated protein ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:11,185,730...11,206,563
Ensembl chrNW_004936490:11,185,801...11,199,709 		JBrowse link
G Ngfr nerve growth factor receptor ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:12,038,500...12,057,257
Ensembl chrNW_004936490:12,035,769...12,057,263 		JBrowse link
G Nxph3 neurexophilin 3 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:11,986,099...11,990,592
Ensembl chrNW_004936490:11,985,689...11,990,799 		JBrowse link
G Pdk2 pyruvate dehydrogenase kinase 2 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:11,534,412...11,549,128
Ensembl chrNW_004936490:11,534,243...11,549,642 		JBrowse link
G Phb1 prohibitin 1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:12,127,065...12,138,870
Ensembl chrNW_004936490:12,127,065...12,138,870 		JBrowse link
G Phospho1 phosphoethanolamine/phosphocholine phosphatase 1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:12,272,807...12,280,360
Ensembl chrNW_004936490:12,272,851...12,280,356 		JBrowse link
G Ppp1r9b protein phosphatase 1 regulatory subunit 9B ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:11,497,389...11,514,191 JBrowse link
G Rsad1 radical S-adenosyl methionine domain containing 1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:11,224,928...11,232,433
Ensembl chrNW_004936490:11,224,098...11,232,454 		JBrowse link
G Samd14 sterile alpha motif domain containing 14 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:11,517,464...11,534,184
Ensembl chrNW_004936490:11,519,839...11,534,202 		JBrowse link
G Sgca sarcoglycan alpha ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:11,470,155...11,482,377
Ensembl chrNW_004936490:11,468,935...11,482,468 		JBrowse link
G Slc35b1 solute carrier family 35 member B1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:11,871,723...11,880,595
Ensembl chrNW_004936490:11,871,483...11,878,237 		JBrowse link
G Snf8 SNF8 subunit of ESCRT-II ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:12,507,147...12,520,424
Ensembl chrNW_004936490:12,507,116...12,523,674 		JBrowse link
G Spata20 spermatogenesis associated 20 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:11,162,504...11,170,862
Ensembl chrNW_004936490:11,162,339...11,170,905 		JBrowse link
G Spop speckle type BTB/POZ protein ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:11,894,449...11,969,730
Ensembl chrNW_004936490:11,894,406...11,970,155 		JBrowse link
G Tac4 tachykinin precursor 4 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:11,762,989...11,767,693 JBrowse link
G Tmem92 transmembrane protein 92 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:11,387,480...11,392,246 JBrowse link
G Ttll6 tubulin tyrosine ligase like 6 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:12,625,977...12,652,318
Ensembl chrNW_004936490:12,626,007...12,652,286 		JBrowse link
G Ube2z ubiquitin conjugating enzyme E2 Z ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:12,518,137...12,540,272
Ensembl chrNW_004936490:12,523,293...12,540,166 		JBrowse link
G Xylt2 xylosyltransferase 2 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:11,327,654...11,340,417
Ensembl chrNW_004936490:11,326,859...11,340,453 		JBrowse link
G Znf652 zinc finger protein 652 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chrNW_004936490:12,208,869...12,228,717
Ensembl chrNW_004936490:12,208,820...12,224,962 		JBrowse link
trichohepatoenteric syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nelfe negative elongation factor complex member E ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome ClinVar PMID:25741868 NCBI chrNW_004936727:1,589,942...1,596,009
Ensembl chrNW_004936727:1,589,942...1,598,182 		JBrowse link
G Skic2 SKI2 subunit of superkiller complex ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome ClinVar PMID:16199547 PMID:22444670 PMID:25741868 PMID:27050310 PMID:28492532 More... NCBI chrNW_004936727:1,579,208...1,590,215
Ensembl chrNW_004936727:1,579,212...1,590,252 		JBrowse link
G Skic3 SKI3 subunit of superkiller complex ISO ClinVar Annotator: match by term: DIARRHEA, FATAL INFANTILE, WITH TRICHORRHEXIS NODOSA | ClinVar Annotator: match by term: Trichohepatoenteric syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20176027 PMID:21120949 More... NCBI chrNW_004936523:7,786,629...7,885,220
Ensembl chrNW_004936523:7,786,649...7,888,341 		JBrowse link
trichohepatoenteric syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agk acylglycerol kinase ISO ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 ClinVar PMID:22284826 PMID:23266196 PMID:24088041 PMID:25208612 PMID:25326635 More... NCBI chrNW_004936592:5,454,860...5,531,285
Ensembl chrNW_004936592:5,457,582...5,531,000 		JBrowse link
G Skic3 SKI3 subunit of superkiller complex ISO ClinVar Annotator: match by term: SKIC3-related condition | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 OMIM
ClinVar		 PMID:16199547 PMID:20176027 PMID:21120949 PMID:23326254 PMID:23974064 More... NCBI chrNW_004936523:7,786,629...7,885,220
Ensembl chrNW_004936523:7,786,649...7,888,341 		JBrowse link
trichohepatoenteric syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Skic2 SKI2 subunit of superkiller complex ISO ClinVar Annotator: match by term: SKIC2-related condition | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 2 OMIM
ClinVar		 PMID:16199547 PMID:22444670 PMID:24033266 PMID:25326635 PMID:25714577 More... NCBI chrNW_004936727:1,579,208...1,590,215
Ensembl chrNW_004936727:1,579,212...1,590,252 		JBrowse link
Trichohepatoneurodevelopmental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc47 coiled-coil domain containing 47 ISO ClinVar Annotator: match by term: CCDC47-related condition | ClinVar Annotator: match by term: Trichohepatoneurodevelopmental syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30401460 NCBI chrNW_004936541:4,389,428...4,418,414
Ensembl chrNW_004936541:4,389,266...4,418,662 		JBrowse link
trichorhinophalangeal syndrome type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aard alanine and arginine rich domain containing protein ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:29,320,937...29,325,193
Ensembl chrNW_004936470:29,321,105...29,325,192 		JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936845:66,674...96,248
Ensembl chrNW_004936845:66,241...96,249 		JBrowse link
G Anxa13 annexin A13 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:23,710,710...23,763,183
Ensembl chrNW_004936470:23,731,768...23,762,903 		JBrowse link
G Atad2 ATPase family AAA domain containing 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:23,986,895...24,043,609
Ensembl chrNW_004936470:23,986,967...24,043,082 		JBrowse link
G Ccn3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:27,178,439...27,185,554
Ensembl chrNW_004936470:27,178,621...27,185,564 		JBrowse link
G Col14a1 collagen type XIV alpha 1 chain ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:26,440,606...26,643,015
Ensembl chrNW_004936470:26,440,615...26,643,015 		JBrowse link
G Colec10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:27,416,471...27,449,206
Ensembl chrNW_004936470:27,416,494...27,449,206 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936586:5,739,038...5,850,317
Ensembl chrNW_004936586:5,739,337...5,850,312 		JBrowse link
G CUNH8orf76 chromosome unknown C8orf76 homolog ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:24,093,346...24,110,514
Ensembl chrNW_004936470:24,093,345...24,111,906 		JBrowse link
G Deptor DEP domain containing MTOR interacting protein ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:26,698,707...26,837,470
Ensembl chrNW_004936470:26,704,021...26,837,470 		JBrowse link
G Derl1 derlin 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:24,262,401...24,286,713
Ensembl chrNW_004936470:24,262,091...24,286,577 		JBrowse link
G Dscc1 DNA replication and sister chromatid cohesion 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:26,849,541...26,869,040
Ensembl chrNW_004936470:26,849,569...26,869,043 		JBrowse link
G Eif3h eukaryotic translation initiation factor 3 subunit H ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:29,509,154...29,606,124
Ensembl chrNW_004936470:29,509,151...29,606,124 		JBrowse link
G Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:26,994,549...27,099,758
Ensembl chrNW_004936470:26,994,215...27,100,999 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936586:4,065,767...5,100,690
Ensembl chrNW_004936586:4,066,498...5,100,035 		JBrowse link
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:28,303,213...28,566,470
Ensembl chrNW_004936470:28,303,828...28,566,118 		JBrowse link
G Fam83a family with sequence similarity 83 member A ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:24,119,688...24,138,413
Ensembl chrNW_004936470:24,119,636...24,138,420 		JBrowse link
G Fam91a1 family with sequence similarity 91 member A1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:23,645,233...23,684,841
Ensembl chrNW_004936470:23,644,858...23,684,872 		JBrowse link
G Fbxo32 F-box protein 32 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:23,886,836...23,919,063
Ensembl chrNW_004936470:23,886,970...23,918,258 		JBrowse link
G Fer1l6 fer-1 like family member 6 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:23,430,982...23,544,510
Ensembl chrNW_004936470:23,431,641...23,544,510 		JBrowse link
G Has2 hyaluronan synthase 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:25,418,069...25,443,332
Ensembl chrNW_004936470:25,418,063...25,444,634 		JBrowse link
G Ikzf2 IKAROS family zinc finger 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936586:3,522,614...3,676,070
Ensembl chrNW_004936586:3,525,933...3,674,061 		JBrowse link
G Kansl1l KAT8 regulatory NSL complex subunit 1 like ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936845:123,713...248,857
Ensembl chrNW_004936845:109,432...246,833 		JBrowse link
G Klhl38 kelch like family member 38 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:23,786,950...23,796,422
Ensembl chrNW_004936470:23,786,950...23,797,487 		JBrowse link
G Lancl1 LanC like glutathione S-transferase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936586:5,917,470...5,950,101
Ensembl chrNW_004936586:5,917,413...5,952,952 		JBrowse link
G Lratd2 LRAT domain containing 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:21,439,925...21,445,582
Ensembl chrNW_004936470:21,440,008...21,444,454 		JBrowse link
G Mal2 mal, T cell differentiation protein 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:27,315,356...27,390,078
Ensembl chrNW_004936470:27,315,287...27,340,799 		JBrowse link
G Map2 microtubule associated protein 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936845:475,406...752,600
Ensembl chrNW_004936845:473,366...545,135 		JBrowse link
G Med30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:28,798,356...28,822,143
Ensembl chrNW_004936470:28,798,649...28,817,176 		JBrowse link
G Mrpl13 mitochondrial ribosomal protein L13 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:26,386,511...26,424,480
Ensembl chrNW_004936470:26,386,517...26,425,775 		JBrowse link
G Mtbp MDM2 binding protein ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:26,312,670...26,386,410
Ensembl chrNW_004936470:26,312,590...26,386,427 		JBrowse link
G Mtss1 MTSS I-BAR domain containing 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:22,963,498...23,117,923
Ensembl chrNW_004936470:22,963,496...23,117,226 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:20,480,844...20,485,955
Ensembl chrNW_004936470:20,480,829...20,485,965 		JBrowse link
G Myl1 myosin light chain 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936586:5,993,177...6,013,426
Ensembl chrNW_004936586:5,993,098...6,013,994 		JBrowse link
G Ndufb9 NADH:ubiquinone oxidoreductase subunit B9 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:23,118,162...23,123,648
Ensembl chrNW_004936470:23,118,164...23,123,749 		JBrowse link
G Nsmce2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:22,447,278...22,667,302
Ensembl chrNW_004936470:22,445,433...22,667,559 		JBrowse link
G Ntaq1 N-terminal glutamine amidase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:23,957,498...23,974,834
Ensembl chrNW_004936470:23,957,400...23,974,916 		JBrowse link
G Rad21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:29,377,793...29,403,422
Ensembl chrNW_004936470:29,377,734...29,407,312 		JBrowse link
G Rnf139 ring finger protein 139 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:23,157,312...23,168,565
Ensembl chrNW_004936470:23,152,765...23,168,571 		JBrowse link
G Rpe ribulose-5-phosphate-3-epimerase ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936845:188,414...264,070 JBrowse link
G Samd12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:27,858,661...28,230,543
Ensembl chrNW_004936470:27,858,427...28,228,114 		JBrowse link
G Slc30a8 solute carrier family 30 member 8 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:29,114,713...29,151,993
Ensembl chrNW_004936470:29,114,713...29,151,993 		JBrowse link
G Sntb1 syntrophin beta 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:26,074,175...26,301,076
Ensembl chrNW_004936470:26,073,520...26,303,113 		JBrowse link
G Spag16 sperm associated antigen 16 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936586:3,264,953...3,407,823 JBrowse link
G Sqle squalene epoxidase ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:22,726,793...22,752,429
Ensembl chrNW_004936470:22,725,888...22,752,500 		JBrowse link
G Taf2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:26,871,865...26,951,804
Ensembl chrNW_004936470:26,871,847...26,951,806 		JBrowse link
G Tatdn1 TatD DNase domain containing 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:23,123,693...23,156,764
Ensembl chrNW_004936470:23,123,730...23,167,274 		JBrowse link
G Tbc1d31 TBC1 domain family member 31 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:24,164,666...24,236,091
Ensembl chrNW_004936470:24,164,667...24,236,065 		JBrowse link
G Tmem65 transmembrane protein 65 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:23,247,722...23,284,894
Ensembl chrNW_004936470:23,261,738...23,277,560 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:27,571,263...27,598,725
Ensembl chrNW_004936470:27,571,270...27,599,089 		JBrowse link
G Trib1 tribbles pseudokinase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:22,401,713...22,408,808
Ensembl chrNW_004936470:22,401,379...22,409,490 		JBrowse link
G Trmt12 tRNA methyltransferase 12 homolog ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:23,183,138...23,184,856
Ensembl chrNW_004936470:23,183,397...23,184,738 		JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal Syndrome Type I | ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I OMIM
ClinVar		 PMID:10615131 PMID:11112658 PMID:11359471 PMID:11807863 PMID:11950061 More... NCBI chrNW_004936470:30,475,779...30,666,546
Ensembl chrNW_004936470:30,432,625...30,665,091 		JBrowse link
G Unc80 unc-80 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936845:268,357...454,557
Ensembl chrNW_004936845:268,919...454,031 		JBrowse link
G Utp23 UTP23 small subunit processome component ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:29,489,354...29,495,171
Ensembl chrNW_004936470:29,486,977...29,495,222 		JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:22,667,354...22,725,538
Ensembl chrNW_004936470:22,667,127...22,725,749 		JBrowse link
G Zhx1 zinc fingers and homeoboxes 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:24,058,718...24,084,535
Ensembl chrNW_004936470:24,059,863...24,084,535 		JBrowse link
G Zhx2 zinc fingers and homeoboxes 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:24,315,371...24,476,063
Ensembl chrNW_004936470:24,315,404...24,474,282 		JBrowse link
G Znf572 zinc finger protein 572 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chrNW_004936470:22,762,145...22,767,818
Ensembl chrNW_004936470:22,760,467...22,767,871 		JBrowse link
trichorhinophalangeal syndrome type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aard alanine and arginine rich domain containing protein ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chrNW_004936470:29,320,937...29,325,193
Ensembl chrNW_004936470:29,321,105...29,325,192 		JBrowse link
G Ccn3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chrNW_004936470:27,178,439...27,185,554
Ensembl chrNW_004936470:27,178,621...27,185,564 		JBrowse link
G Colec10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chrNW_004936470:27,416,471...27,449,206
Ensembl chrNW_004936470:27,416,494...27,449,206 		JBrowse link
G Eif3h eukaryotic translation initiation factor 3 subunit H ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chrNW_004936470:29,509,154...29,606,124
Ensembl chrNW_004936470:29,509,151...29,606,124 		JBrowse link
G Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chrNW_004936470:26,994,549...27,099,758
Ensembl chrNW_004936470:26,994,215...27,100,999 		JBrowse link
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chrNW_004936470:28,303,213...28,566,470
Ensembl chrNW_004936470:28,303,828...28,566,118 		JBrowse link
G Mal2 mal, T cell differentiation protein 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chrNW_004936470:27,315,356...27,390,078
Ensembl chrNW_004936470:27,315,287...27,340,799 		JBrowse link
G Med30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chrNW_004936470:28,798,356...28,822,143
Ensembl chrNW_004936470:28,798,649...28,817,176 		JBrowse link
G Rad21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chrNW_004936470:29,377,793...29,403,422
Ensembl chrNW_004936470:29,377,734...29,407,312 		JBrowse link
G Samd12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chrNW_004936470:27,858,661...28,230,543
Ensembl chrNW_004936470:27,858,427...28,228,114 		JBrowse link
G Slc30a8 solute carrier family 30 member 8 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chrNW_004936470:29,114,713...29,151,993
Ensembl chrNW_004936470:29,114,713...29,151,993 		JBrowse link
G Taf2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chrNW_004936470:26,871,865...26,951,804
Ensembl chrNW_004936470:26,871,847...26,951,806 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chrNW_004936470:27,571,263...27,598,725
Ensembl chrNW_004936470:27,571,270...27,599,089 		JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III OMIM
ClinVar		 PMID:9536098 PMID:10615131 PMID:11112658 PMID:11807863 PMID:11950061 More... NCBI chrNW_004936470:30,475,779...30,666,546
Ensembl chrNW_004936470:30,432,625...30,665,091 		JBrowse link
G Utp23 UTP23 small subunit processome component ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III ClinVar PMID:11112658 PMID:25792522 PMID:28492532 NCBI chrNW_004936470:29,489,354...29,495,171
Ensembl chrNW_004936470:29,486,977...29,495,222 		JBrowse link
Uncombable Hair Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101971622 trichohyalin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936580:2,277,109...2,283,088 JBrowse link
G Padi3 peptidyl arginine deiminase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936474:4,165,597...4,191,449
Ensembl chrNW_004936474:4,165,597...4,191,449 		JBrowse link
G Tgm3 transglutaminase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936485:16,259,197...16,325,167
Ensembl chrNW_004936485:16,259,643...16,296,783 		JBrowse link
Uncombable Hair Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Padi3 peptidyl arginine deiminase 3 ISO ClinVar Annotator: match by term: PADI3-related condition | ClinVar Annotator: match by term: Uncombable hair syndrome 1 OMIM
ClinVar		 PMID:22381266 PMID:24629392 PMID:25741868 PMID:27866708 PMID:28492532 More... NCBI chrNW_004936474:4,165,597...4,191,449
Ensembl chrNW_004936474:4,165,597...4,191,449 		JBrowse link
Uncombable Hair Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgm3 transglutaminase 3 ISO ClinVar Annotator: match by term: TGM3-related condition | ClinVar Annotator: match by term: Uncombable hair syndrome 2 OMIM
ClinVar		 PMID:24183230 PMID:25741868 PMID:27866708 PMID:28492532 NCBI chrNW_004936485:16,259,197...16,325,167
Ensembl chrNW_004936485:16,259,643...16,296,783 		JBrowse link
Uncombable Hair Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101971622 trichohyalin ISO ClinVar Annotator: match by term: Uncombable hair syndrome 3 OMIM
ClinVar		 PMID:25741868 PMID:27866708 NCBI chrNW_004936580:2,277,109...2,283,088 JBrowse link
Urban Schosser Spohn Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: Hereditary mucoepithelial dysplasia OMIM
ClinVar		 PMID:25741868 PMID:31790666 PMID:32497488 PMID:32902915 PMID:33253727 NCBI chrNW_004936741:1,408,669...1,419,717
Ensembl chrNW_004936741:1,406,521...1,419,776 		JBrowse link
Woodhouse-Sakati syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcaf17 DDB1 and CUL4 associated factor 17 ISO ClinVar Annotator: match by term: Woodhouse-Sakati syndrome OMIM
ClinVar		 PMID:6876115 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17710875 More... NCBI chrNW_004936509:1,678,831...1,716,856
Ensembl chrNW_004936509:1,678,988...1,720,418 		JBrowse link
G Mettl8 methyltransferase 8, tRNA N3-cytidine ISO ClinVar Annotator: match by term: Woodhouse-Sakati syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:17710875 PMID:19026396 More... NCBI chrNW_004936509:1,590,583...1,678,680
Ensembl chrNW_004936509:1,591,348...1,652,673 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14638
    sensory system disease 6692
      skin disease 3924
        hair disease 300
          Bamforth-Lazarus syndrome 2
          Bird Headed Dwarfism Montreal Type 0
          Bjornstad syndrome 1
          Catatrichy 0
          Copper Deficiency, Familial Benign 0
          Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome 1
          Dermoodontodysplasia 0
          FLOTCH Syndrome 0
          Hairy Palms and Soles 0
          Hirsutism + 12
          Kaler Garrity Stern Syndrome 0
          Katsantoni-Papadakou-Lagoyanni Syndrome 0
          Kozlowski-Krajewska Syndrome 0
          MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME 1
          Martinez Monasterio Pinheiro Syndrome 0
          Menkes disease + 8
          Naxos disease + 4
          Oculotrichodysplasia 0
          Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 0
          Pili Annulati 0
          Pili Multigemini 0
          Pili Torti + 1
          Pseudofolliculitis Barbae 0
          Pseudomonilethrix 0
          Rodrigues Blindness 0
          Trichodysplasia-Xeroderma 0
          Trichohepatoneurodevelopmental Syndrome 1
          Trichostasis Spinulosa 0
          Uncombable Hair Syndrome + 3
          White Forelock with Malformations 0
          brachycephaly, trichomegaly, and developmental delay 1
          familial isolated trichomegaly 1
          familial woolly hair syndrome + 9
          folliculitis + 1
          hypertrichosis + 30
          hypotrichosis + 128
          inflammatory poikiloderma with hair abnormalities and acral keratoses 1
          monilethrix + 0
          photosensitive trichothiodystrophy 1 3
          pure hair and nail ectodermal dysplasia + 1
          superficial mycosis + 0
          tinea capitis + 0
          trichodontoosseous syndrome + 44
          trichohepatoenteric syndrome + 4
          trichorhinophalangeal syndrome type I 59
          trichorhinophalangeal syndrome type III 15
Path 2
Term Annotations click to browse term
  disease 14638
    disease of anatomical entity 14327
      nervous system disease 12614
        Neurologic Manifestations 9433
          sensory system disease 6692
            skin disease 3924
              hair disease 300
                Bamforth-Lazarus syndrome 2
                Bird Headed Dwarfism Montreal Type 0
                Bjornstad syndrome 1
                Catatrichy 0
                Copper Deficiency, Familial Benign 0
                Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome 1
                Dermoodontodysplasia 0
                FLOTCH Syndrome 0
                Hairy Palms and Soles 0
                Hirsutism + 12
                Kaler Garrity Stern Syndrome 0
                Katsantoni-Papadakou-Lagoyanni Syndrome 0
                Kozlowski-Krajewska Syndrome 0
                MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME 1
                Martinez Monasterio Pinheiro Syndrome 0
                Menkes disease + 8
                Naxos disease + 4
                Oculotrichodysplasia 0
                Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 0
                Pili Annulati 0
                Pili Multigemini 0
                Pili Torti + 1
                Pseudofolliculitis Barbae 0
                Pseudomonilethrix 0
                Rodrigues Blindness 0
                Trichodysplasia-Xeroderma 0
                Trichohepatoneurodevelopmental Syndrome 1
                Trichostasis Spinulosa 0
                Uncombable Hair Syndrome + 3
                White Forelock with Malformations 0
                brachycephaly, trichomegaly, and developmental delay 1
                familial isolated trichomegaly 1
                familial woolly hair syndrome + 9
                folliculitis + 1
                hypertrichosis + 30
                hypotrichosis + 128
                inflammatory poikiloderma with hair abnormalities and acral keratoses 1
                monilethrix + 0
                photosensitive trichothiodystrophy 1 3
                pure hair and nail ectodermal dysplasia + 1
                superficial mycosis + 0
                tinea capitis + 0
                trichodontoosseous syndrome + 44
                trichohepatoenteric syndrome + 4
                trichorhinophalangeal syndrome type I 59
                trichorhinophalangeal syndrome type III 15
paths to the root