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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.


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 Arg1 arginase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239484 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239484 NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630 		JBrowse link
G Krt81 keratin 81 susceptibility ISO protein:mutation: ; E403K; monilethrix, OMIM:158000 RGD PMID:9402962 RGD:1600197 NCBI chr 7:132,577,112...132,582,238
Ensembl chr 7:132,576,492...132,582,170 		JBrowse link
G Krt86 keratin 86 susceptibility ISO protein:mutations: ; E410K, E410D; monilethrix, OMIM:158000 RGD PMID:9241275 RGD:1600198 NCBI chr 7:132,591,489...132,598,142
Ensembl chr 7:132,591,545...132,598,021 		JBrowse link
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19684605 NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337 		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 chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238 		JBrowse link
G Ar androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15902657 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO protein:increased expression:dermal papilla: RGD PMID:21729031 RGD:8657081 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25242322 NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539 		JBrowse link
G Cdsn corneodesmosin ISO hypotrichosis simplex of the scalp, OMIM:146520 RGD PMID:12754508 RGD:1599783 NCBI chr20:3,179,432...3,184,252
Ensembl chr20:3,179,438...3,184,250 		JBrowse link
G Crh corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:21359208 NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919 		JBrowse link
G Dsg4 desmoglein 4 IAGP DNA:missense mutation:exon 8 (rat) RGD PMID:15617564 RGD:150521562 NCBI chr18:11,720,844...11,757,927
Ensembl chr18:11,720,975...11,756,234 		JBrowse link
G Esr2 estrogen receptor 2 no_association
susceptibility		 ISO DNA:snps:multiple (human)
DNA:snps:enhancer, intron g.-20301C>T, g.34493G>A, g.16688A>G (rs2022748, rs10137185, rs17101774) (human)		 RGD PMID:22509838 PMID:22014031 RGD:8694094, RGD:8694095 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G Far2 fatty acyl CoA reductase 2 ISS OMIM:300042 MouseDO NCBI chr 4:180,973,968...181,087,862
Ensembl chr 4:181,007,622...181,087,255 		JBrowse link
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Alopecia, androgenetic, 1 ClinVar NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803 		JBrowse link
G Foxn1 forkhead box N1 ISO T-cell immunodeficiency, congenital alopecia, and nail dystrophy, OMIM:601705 RGD PMID:10206641 RGD:1599846 NCBI chr10:63,251,400...63,273,710
Ensembl chr10:63,251,400...63,273,710 		JBrowse link
G Hr HR, lysine demethylase and nuclear receptor corepressor ISO alopecia universalis congenita, OMIM:203655
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16455232 PMID:9736769 RGD:1599575 NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:plasma:
protein:decreased secretion:dermal papilla:		 RGD PMID:10827403 PMID:24499417 RGD:8549462, RGD:8549500 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Krt71 keratin 71 IAGP DNA:deletion:cds:intron 1, p.Val149_Gln154 del RGD PMID:20179389 RGD:11570415 NCBI chr 7:132,873,532...132,898,975
Ensembl chr 7:132,873,540...132,882,325 		JBrowse link
G Krt71Rex keratin 71; autosomal dominant Rex IAGP DNA:deletion:cds:intron 1, p.Val149_Gln154 del RGD PMID:20179389 RGD:11570415
G Mlph melanophilin ISO Coat colour, dilution, MLPH-related OMIA PMID:591423 PMID:5019544 PMID:7725619 PMID:8257319 PMID:8533225 More... NCBI chr 9:91,507,410...91,542,984
Ensembl chr 9:91,507,591...91,542,983 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18381794 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20561897 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G Plcd1 phospholipase C, delta 1 ISO RGD PMID:12805213 RGD:1302551 NCBI chr 8:118,795,196...118,818,186
Ensembl chr 8:118,795,201...118,818,186 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29367455 NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041 		JBrowse link
G Prss8 serine protease 8 IAGP DNA:deletion:cds:exon 3 (rat) RGD PMID:20201958 RGD:150520038 NCBI chr 1:182,536,229...182,540,745
Ensembl chr 1:182,536,229...182,540,815 		JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570889 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO human gene in rat model; DNA:polymorphisms:cds:HLA-B*2705 (human) RGD PMID:7573371 RGD:7387278 NCBI chr20:3,314,830...3,318,106 JBrowse link
G Smarcd1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 ISO ClinVar Annotator: match by term: Alopecia, androgenetic, 1 ClinVar NCBI chr 7:130,829,783...130,840,323
Ensembl chr 7:130,829,768...130,840,323 		JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17136762 NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112 		JBrowse link
G Supv3l1 Suv3 like RNA helicase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19145458 NCBI chr20:30,378,542...30,399,076
Ensembl chr20:30,378,550...30,399,054 		JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652058 NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467 		JBrowse link
G Tpmt thiopurine S-methyltransferase ISO RGD PMID:24322830 RGD:11038725 NCBI chr17:17,644,088...17,662,709
Ensembl chr17:17,644,173...17,662,709 		JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 IAGP DNA:missense mutation:cds:G1717T (rat) RGD PMID:16858425 RGD:150520053 NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296 		JBrowse link
G Vdr vitamin D receptor ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:1338926 PMID:22466564 PMID:11713240 RGD:8157637 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20548961 NCBI chr 1:98,487,319...98,525,906
Ensembl chr 1:98,487,358...98,525,905 		JBrowse link
G Zfp36 zinc finger protein 36 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15944294 NCBI chr 1:83,669,084...83,671,564
Ensembl chr 1:83,669,084...83,671,564 		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 ISS OMIM:104000 | OMIM:610753 MouseDO NCBI chr20:3,205,675...3,218,437
Ensembl chr20:3,205,676...3,218,308 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNP:3'UTR:rs3087243(human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20596022 PMID:23567921 RGD:7411701 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547 		JBrowse link
G Hdac1 histone deacetylase 1 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111 		JBrowse link
G Hdac2 histone deacetylase 2 ISO mRNA:decreased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609 		JBrowse link
G Hdac7 histone deacetylase 7 ISO mRNA:decreased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr 7:128,923,918...128,961,926
Ensembl chr 7:128,923,920...128,962,072 		JBrowse link
G Ikzf4 IKAROS family zinc finger 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 7:1,063,283...1,102,940
Ensembl chr 7:1,056,890...1,084,341 		JBrowse link
G Il18 interleukin 18 susceptibility ISO DNA:SNPs:promoter, exon:-137G>C (rs187238), rs549908 (human) RGD PMID:24446726 RGD:8655875 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		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 chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:3261574 PMID:16297194 RGD:8663449, RGD:8663450 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697 		JBrowse link
G Kdm1a lysine demethylase 1A ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319 		JBrowse link
G Kdm4a lysine demethylase 4A ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 5:131,672,754...131,719,534
Ensembl chr 5:131,672,754...131,719,501 		JBrowse link
G Kdm4b lysine demethylase 4B ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 9:1,158,737...1,237,233
Ensembl chr 9:1,158,752...1,236,543 		JBrowse link
G Kdm4c lysine demethylase 4C ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818 		JBrowse link
G Kdm5a lysine demethylase 5A ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 4:153,565,909...153,643,912
Ensembl chr 4:153,565,846...153,642,422 		JBrowse link
G Mx1 MX dynamin like GTPase 1 onset ISO DNA:SNP:intron 6:g.9959C>T (human) RGD PMID:10942113 RGD:126777672 NCBI chr11:36,799,659...36,825,209
Ensembl chr11:36,799,660...36,823,507 		JBrowse link
G Notch4 notch receptor 4 ISO RGD PMID:12589427 RGD:6480681 NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465 		JBrowse link
G Prdx5 peroxiredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 1:204,099,826...204,103,589
Ensembl chr 1:204,099,826...204,114,268 		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 chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779 		JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism: : HLA-DQA1*0104, HLA-DQA1*0606; RGD PMID:16231148 RGD:8547568 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphism: : HLA-DQB1*0604; RGD PMID:16231148 RGD:8547568 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G Stx17 syntaxin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 5:62,446,138...62,506,108
Ensembl chr 5:62,446,187...62,504,451 		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
ISS		 OMIM:203655
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ATRICHIA, GENERALIZED | ClinVar Annotator: match by term: Alopecia universalis | ClinVar Annotator: match by term: Alopecia universalis congenita		 OMIM
MouseDO
CTD
ClinVar		 PMID:8790387 PMID:9445480 PMID:9736769 PMID:9758627 PMID:11410842 More... NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313 		JBrowse link
G Hrurf HR upstream open reading frame ISO ClinVar Annotator: match by term: Alopecia universalis congenita ClinVar
G Il4 interleukin 4 ISO protein:increased expression:serum RGD PMID:20671941 RGD:7829773 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		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:25741868 PMID:28492532 NCBI chr 3:55,863,776...55,895,601
Ensembl chr 3:55,863,799...55,891,820 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANE syndrome		 OMIM
CTD
ClinVar		 PMID:18439547 PMID:25741868 NCBI chr 4:57,722,946...57,761,935
Ensembl chr 4:57,722,223...57,761,653 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alopecia mental retardation syndrome 1 | ClinVar Annotator: match by term: Alopecia-intellectual disability syndrome 1		 OMIM
CTD
ClinVar		 PMID:9003486 PMID:15592877 PMID:15806395 PMID:25741868 PMID:28054173 More... NCBI chr11:78,121,388...78,127,998
Ensembl chr11:78,117,918...78,145,999 		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 chr19:9,255,190...9,346,574
Ensembl chr19:9,255,194...9,346,574 		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 chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762 		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 chr 9:38,711,726...38,750,942
Ensembl chr 9:38,711,710...38,750,942 		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
ISS		 OMIM:209500
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrichia with papular lesions | ClinVar Annotator: match by term: Papular Atrichia		 OMIM
MouseDO
CTD
ClinVar		 PMID:8790387 PMID:9445480 PMID:9736769 PMID:9758627 PMID:9856480 More... NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313 		JBrowse link
G Hrurf HR upstream open reading frame ISO ClinVar Annotator: match by term: Atrichia with papular lesions ClinVar
G Odc1 ornithine decarboxylase 1 ISS OMIM:209500 MouseDO NCBI chr 6:40,329,831...40,336,444
Ensembl chr 6:40,329,964...40,336,440 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9450882 PMID:12207612 PMID:17273967 PMID:18445049 PMID:18843291 More... NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517 		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 chr10:84,267,399...84,275,025
Ensembl chr10:84,267,399...84,274,965 		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 chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331 		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 chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302 		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: WOOLLY HAIR, AUTOSOMAL RECESSIVE 3, WITH HYPOTRICHOSIS OMIM
ClinVar		 PMID:24824130 PMID:26160856 PMID:26902920 NCBI chr10:84,267,399...84,275,025
Ensembl chr10:84,267,399...84,274,965 		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 chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G Foxe1 forkhead box E1 ISO
ISS		 ClinVar Annotator: match by term: Bamforth-Lazarus syndrome
OMIM:241850
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:16884476 More... NCBI chr 5:60,630,027...60,632,835
Ensembl chr 5:60,630,027...60,632,835 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Barber-Say syndrome		 OMIM
CTD
ClinVar		 PMID:1867254 PMID:8368246 PMID:9674915 PMID:16650233 PMID:19760652 More... NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222 		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 chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
Bjornstad syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Bjornstad syndrome with mild mitochondrial complex III deficiency | ClinVar Annotator: match by term: Pili torti-deafness syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brachycephaly, trichomegaly, and developmental delay		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:28257692 NCBI chr 2:22,079,339...22,080,909
Ensembl chr 2:22,079,302...22,080,918 		JBrowse link
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sash1 SAM and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma OMIM
ClinVar		 PMID:25315659 PMID:25741868 NCBI chr 1:3,119,915...3,418,536
Ensembl chr 1:3,121,332...3,439,870 		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 chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365 		JBrowse link
G Dsp desmoplakin ISO
ISS		 ClinVar Annotator: match by term: Carvajal syndrome | ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma | ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy | ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
OMIM:605676
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:491020 PMID:2450378 PMID:3198322 PMID:8769422 PMID:9229116 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Snrnp48 small nuclear ribonucleoprotein U11/U12 subunit 48 ISO ClinVar Annotator: match by term: Carvajal syndrome ClinVar PMID:28492532 NCBI chr17:26,596,266...26,616,058
Ensembl chr17:26,596,275...26,616,040 		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 chr 5:153,089,717...153,117,146
Ensembl chr 5:153,089,717...153,117,146 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11889251 PMID:18316707 PMID:19387015 PMID:20437615 PMID:21115960 More... NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: Subcortical vascular encephalopathy, progressive ClinVar PMID:24500651 PMID:27148565 NCBI chr18:27,885,071...27,905,509
Ensembl chr18:27,884,556...27,905,513 		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
ISS		 ClinVar Annotator: match by term: Coffin-Siris syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD		 PMID:22426308 PMID:25741868 NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO DNA:frameshift,nonsense mutations, haploinsufficiency:cds:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome		 CTD
ClinVar
RGD		 PMID:18414213 PMID:22426308 PMID:22426309 PMID:24033266 PMID:25741868 More... RGD:11526783 NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493 		JBrowse link
G Kdm8 lysine demethylase 8 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chr 1:180,013,969...180,028,829
Ensembl chr 1:180,020,656...180,028,841 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability		 CTD
ClinVar		 PMID:18414213 PMID:22426308 PMID:28512736 NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin-Siris syndrome		 CTD
ClinVar		 PMID:15756273 PMID:18414213 PMID:18437052 PMID:21280140 PMID:22426308 More... NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin-Siris syndrome		 CTD
ClinVar		 PMID:10521299 PMID:16199547 PMID:21108436 PMID:21208904 PMID:22426308 More... NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620 		JBrowse link
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22426308 NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989 		JBrowse link
G Sox11 SRY-box transcription factor 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin-Siris syndrome		 CTD
ClinVar		 PMID:25741868 PMID:26543203 NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354 		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: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 ClinVar PMID:22426308 PMID:25168959 PMID:25741868 NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO
ISS		 ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: ARID1B-related condition | ClinVar Annotator: match by term: ARID1B-related disorder | ClinVar Annotator: match by term: Coffin-Siris syndrome 1
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
OMIM:135900
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
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
MouseDO		 PMID:9536098 PMID:10361086 PMID:15057123 PMID:16199547 PMID:17576681 More... NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493 		JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 PMID:29429572 NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:22366787 PMID:22426308 PMID:22426309 PMID:25724810 PMID:25741868 NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO 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: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:21280140 PMID:24728327 More... NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
G Sox4 SRY-box transcription factor 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665 		JBrowse link
Coffin-Siris syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox4 SRY-box transcription factor 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 10 OMIM
ClinVar		 PMID:25741868 PMID:30661772 PMID:35232796 PMID:35887114 NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665 		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, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 11 OMIM
ClinVar		 PMID:25741868 PMID:30879640 NCBI chr 7:130,829,783...130,840,323
Ensembl chr 7:130,829,768...130,840,323 		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 chr 1:76,661,897...76,736,146
Ensembl chr 1:76,661,897...76,737,157 		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 chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847 		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 chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564 		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 chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313 		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 chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027 		JBrowse link
G Mmp11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr20:12,730,846...12,739,629
Ensembl chr20:12,730,836...12,739,628 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar
OMIM		 PMID:11161377 PMID:22426308 PMID:22726846 PMID:23196062 PMID:23637025 More... NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620 		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, matrix associated, actin dependent regulator of chromatin, subfamily a, member 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:16199547 PMID:17576681 More... NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975 		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, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 susceptibility ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 5 ClinVar
OMIM		 PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532 NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989 		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: Coffin-Siris syndrome 6 OMIM
ClinVar		 PMID:24728327 PMID:25741868 PMID:26238514 PMID:28124119 PMID:28492532 More... NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512 		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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29429572 PMID:29429672 PMID:31207137 NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983 		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, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 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 chr 7:881,844...910,090
Ensembl chr 7:881,421...909,978 		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 disability, autosomal dominant 27 OMIM
ClinVar		 PMID:24886874 PMID:25741868 PMID:26543203 PMID:28492532 PMID:28787104 More... NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | ClinVar Annotator: match by term: SAM SYNDROME		 OMIM
CTD
ClinVar		 PMID:23974871 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr18:11,674,687...11,705,383
Ensembl chr18:11,674,402...11,703,443 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital hypotrichosis with juvenile macular dystrophy | ClinVar Annotator: match by term: Hypotrichosis with juvenile macular dystrophy		 OMIM
CTD
ClinVar		 PMID:10420194 PMID:11544476 PMID:12445216 PMID:14708629 PMID:15805154 More... NCBI chr19:34,393,596...34,444,084
Ensembl chr19:34,393,727...34,444,084 		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		 CTD
RGD		 PMID:12858176 RGD:1625067 NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171 		JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO DNA:insertion,transversion:intron:86557insA, 83597T>G (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:25526675 PMID:12858176 RGD:1625067 NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687 		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 OMIM
ClinVar		 PMID:10522997 PMID:11150889 PMID:12858176 PMID:15827106 PMID:16091483 More... NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171 		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
ISS		 OMIM:614662
ClinVar Annotator: match by term: Cortisone reductase deficiency 2		 OMIM
MouseDO
ClinVar		 PMID:21325058 PMID:25741868 NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687 		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 OMIM
ClinVar		 PMID:23610050 PMID:25326635 PMID:25741868 PMID:26129644 PMID:28492532 More... NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15987455 PMID:17010193 PMID:17576681 PMID:18414213 More... NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136 		JBrowse link
dermatopathia pigmentosa reticularis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt14 keratin 14 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dermatopathia pigmentosa reticularis		 OMIM
CTD
ClinVar		 PMID:1303619 PMID:1717157 PMID:10730767 PMID:11710919 PMID:16098032 More... NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3198322 PMID:9536098 PMID:12101406 PMID:12802069 PMID:15941723 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		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:14744934 PMID:24895408 PMID:25558065 PMID:25741868 PMID:26220823 More... NCBI chr10:60,028,081...60,039,764
Ensembl chr10:60,026,048...60,039,850 		JBrowse link
G Dph2 diphthamide biosynthesis 2 ISO ClinVar Annotator: match by term: diphthamide-deficiency syndrome ClinVar PMID:25741868 PMID:27421267 PMID:32576952 NCBI chr 5:131,428,434...131,431,394
Ensembl chr 5:131,428,268...131,431,395 		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: Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 | ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic features, and sparse hair
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25558065 PMID:25741868 PMID:29565416 PMID:30877278 PMID:32732226 More... NCBI chr10:60,028,081...60,039,764
Ensembl chr10:60,026,048...60,039,850 		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 ClinVar
OMIM		 PMID:25741868 PMID:27421267 PMID:32576952 NCBI chr 5:131,428,434...131,431,394
Ensembl chr 5:131,428,268...131,431,395 		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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... RGD:1598881 NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172 		JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:62,224,763...62,269,333
Ensembl chr  X:62,228,229...62,269,268 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:25741868 NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882 		JBrowse link
ectodermal dysplasia 10A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376 		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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:11279189 More... RGD:1598883 NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494 		JBrowse link
G Edaradd EDAR associated via death domain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant		 CTD
ClinVar		 PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921 NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447 		JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr20:26,247,394...26,293,613
Ensembl chr20:26,247,404...26,293,613 		JBrowse link
G Lims1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr20:26,309,833...26,418,511
Ensembl chr20:26,309,895...26,418,500 		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 chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481 		JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258 		JBrowse link
G Sult1c2a sulfotransferase family 1C member 2A ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 9:6,873,697...6,904,736
Ensembl chr 9:6,874,249...6,904,734 		JBrowse link
G Sult1c3 sulfotransferase family 1C member 3 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 9:7,221,580...7,266,991
Ensembl chr 9:7,221,578...7,267,030 		JBrowse link
ectodermal dysplasia 10B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:28492532 NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376 		JBrowse link
G Edar ectodysplasin-A receptor ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 More... NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494 		JBrowse link
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447 		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:11279189 PMID:15373768 PMID:16435307 PMID:18065779 More... NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11780064 PMID:17354266 PMID:20222921 PMID:20979233 PMID:21626677 More... NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447 		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 chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494 		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 chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447 		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 chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:27838789 PMID:28492532 NCBI chr 5:145,744,753...145,758,150
Ensembl chr 5:145,745,099...145,755,878 		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 chr 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030 		JBrowse link
ectodermal dysplasia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxc13 homeobox C13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24239177 NCBI chr 7:134,058,640...134,065,479
Ensembl chr 7:134,058,640...134,064,800 		JBrowse link
G Krt85 keratin 85 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectodermal dysplasia 4, hair/nail type		 OMIM
CTD
ClinVar		 PMID:16525032 PMID:19865094 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:132,630,184...132,637,061
Ensembl chr 7:132,630,058...132,637,049 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectodermal dysplasia 9, hair/nail type		 OMIM
CTD
ClinVar		 PMID:23063621 PMID:23315978 PMID:25741868 NCBI chr 7:134,058,640...134,065,479
Ensembl chr 7:134,058,640...134,064,800 		JBrowse link
ectodermal dysplasia and immune deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY ClinVar PMID:25741868 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY ClinVar PMID:25741868 NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
ectodermal dysplasia and immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		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
CTD Direct Evidence: marker/mechanism
DNA:mutation:splicing site:		 OMIM
ClinVar
CTD
RGD		 PMID:11242109 PMID:11590134 PMID:15229184 PMID:15833888 PMID:16532398 More... RGD:12791265 NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
ectodermal dysplasia and immunodeficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baz1a bromodomain adjacent to zinc finger domain, 1A ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 6:72,389,701...72,512,516
Ensembl chr 6:72,389,703...72,512,459 		JBrowse link
G Cfl2 cofilin 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 6:72,355,664...72,359,709
Ensembl chr 6:72,355,664...72,359,674 		JBrowse link
G Fam177a1 family with sequence similarity 177, member A1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 6:72,632,628...72,647,553
Ensembl chr 6:72,632,623...72,647,553 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:14523047 PMID:15337789 PMID:17576681 PMID:17931563 More... NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941 		JBrowse link
G Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 6:72,647,025...72,670,885
Ensembl chr 6:72,647,025...72,672,491 		JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416 		JBrowse link
G Psma6 proteasome 20S subunit alpha 6 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 6:72,765,534...72,796,554
Ensembl chr 6:72,765,473...72,796,554 		JBrowse link
G Srp54a signal recognition particle 54A ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 6:72,587,584...72,626,878
Ensembl chr 6:72,587,605...72,625,189 		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 chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335 		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 chr 1:204,117,941...204,129,494
Ensembl chr 1:204,114,572...204,125,925 		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 chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689 		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: Trichomegaly OMIM
ClinVar		 PMID:24989505 NCBI chr14:11,323,827...11,346,164
Ensembl chr14:11,325,334...11,345,997 		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 chr11:79,032,229...79,081,625
Ensembl chr11:79,033,312...79,081,625 		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 ClinVar
OMIM		 PMID:19692347 PMID:22140057 PMID:24668755 PMID:25741868 PMID:28492532 NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260 		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 ISO DNA:missense mutations:cds:c.505C>T,c.262C>T (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GAPO syndrome		 OMIM
CTD
ClinVar
RGD		 PMID:9180938 PMID:9298746 PMID:23602711 PMID:24033266 PMID:25045128 More... RGD:9684854 NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis		 OMIM
CTD
ClinVar		 PMID:24831815 PMID:25741868 NCBI chr10:95,240,159...95,309,195
Ensembl chr10:95,240,154...95,308,976 		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 ClinVar
OMIM		 PMID:29851065 NCBI chr 8:46,564,898...46,574,719
Ensembl chr 8:46,565,146...46,574,719 		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 chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493 		JBrowse link
G Kdm5c lysine demethylase 5C ISO ClinVar Annotator: match by term: Hirsutism ClinVar PMID:25741868 NCBI chr  X:21,345,459...21,387,045
Ensembl chr  X:21,345,481...21,381,870 		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 chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181 		JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Hirsutism ClinVar NCBI chr  X:132,656,658...132,699,720
Ensembl chr  X:132,656,672...132,699,127 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1324751 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Hirsutism ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:35,517,306...35,623,296
Ensembl chr  X:35,517,306...35,623,207 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Hirsutism ClinVar PMID:22366787 PMID:25741868 NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684 		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 chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493 		JBrowse link
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Hypertrichosis ClinVar PMID:21706002 PMID:25741868 NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538 		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 chr10:86,001,545...86,009,049
Ensembl chr10:86,001,566...86,008,972 		JBrowse link
G Slc29a3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19336477 PMID:20140240 NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388 		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
ISS		 ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type
OMIM:239850
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:10398267 PMID:15034580 PMID:16199547 PMID:16835932 More... NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356 		JBrowse link
G Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:239850
ClinVar Annotator: match by term: Cantu syndrome | ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type		 CTD
MouseDO
ClinVar		 PMID:24176758 PMID:24700710 PMID:25741868 PMID:28492532 PMID:28842488 More... NCBI chr 4:175,508,908...175,515,829
Ensembl chr 4:175,508,912...175,515,603 		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 ISS
ISO		 OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia		 MouseDO
ClinVar
RGD		 PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... RGD:14398763 NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172 		JBrowse link
G Edar ectodysplasin-A receptor ISS
ISO		 OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia		 MouseDO
ClinVar		 PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More... NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494 		JBrowse link
G Edaradd EDAR associated via death domain IAGP
ISO		 DNA:missense mutation:exon:p.Pro153Ser(rat)
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia		 ClinVar
RGD		 PMID:20222921 PMID:20979233 PMID:21626677 PMID:25741868 PMID:28492532 More... RGD:14398762 NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447 		JBrowse link
G EdaraddswhKyo EDAR-associated death domain;swh Kyo mutant IAGP RGD PMID:22013926 RGD:14398762
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 chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481 		JBrowse link
G Traf6 TNF receptor associated factor 6 ISS OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO NCBI chr 3:87,963,517...87,988,316
Ensembl chr 3:87,963,514...87,983,507 		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 chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400 		JBrowse link
hypotrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg4 desmoglein 4 ISO
IMP
IAGP		 DNA:deletion
DNA:missense mutation:exon 8 (rat)		 RGD PMID:15191570 PMID:15606503 PMID:15617564 PMID:15081105 RGD:1599796, RGD:150521560, RGD:150521562, RGD:1302434 NCBI chr18:11,720,844...11,757,927
Ensembl chr18:11,720,975...11,756,234 		JBrowse link
G Dsg4hr desmoglein 4; hairless mutant IMP RGD PMID:15606503 RGD:150521560
G Krt71 keratin 71 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:132,873,532...132,898,975
Ensembl chr 7:132,873,540...132,882,325 		JBrowse link
G Liph lipase H ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Woolly hair, autosomal recessive 2, with or without hypotrichosis		 CTD
ClinVar		 PMID:17333281 PMID:18445047 PMID:18820939 PMID:18830268 PMID:19365138 More... NCBI chr11:79,032,229...79,081,625
Ensembl chr11:79,033,312...79,081,625 		JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18297072 NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331 		JBrowse link
G Rpl21 ribosomal protein L21 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:8,268,641...8,272,278
Ensembl chr12:8,267,196...8,272,281
Ensembl chr 3:8,267,196...8,272,281
Ensembl chr13:8,267,196...8,272,281 		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 chr 5:9,345,761...9,472,243
Ensembl chr 5:9,346,040...9,415,476 		JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310
Ensembl chr 8:45,050,986...45,057,310 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypotrichosis 1		 OMIM
CTD
ClinVar		 PMID:10878665 PMID:20393562 PMID:22512811 NCBI chr18:56,385,398...56,416,065
Ensembl chr18:56,385,264...56,416,070 		JBrowse link
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: Hypotrichosis simplex ClinVar NCBI chr19:34,393,596...34,444,084
Ensembl chr19:34,393,727...34,444,084 		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 chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		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 chr11:79,032,229...79,081,625
Ensembl chr11:79,033,312...79,081,625 		JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18297070 NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331 		JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E ISO DNA:snp:cds:c.1A>G (human) RGD PMID:23246290 RGD:10768831 NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310
Ensembl chr 8:45,050,986...45,057,310 		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:33792916 NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310
Ensembl chr 8:45,050,986...45,057,310 		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 chr12:8,268,641...8,272,278
Ensembl chr12:8,267,196...8,272,281
Ensembl chr 3:8,267,196...8,272,281
Ensembl chr13:8,267,196...8,272,281 		JBrowse link
hypotrichosis 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt71 keratin 71 ISO
ISS		 OMIM:615896
ClinVar Annotator: match by term: Hypotrichosis 13		 OMIM
MouseDO
ClinVar		 PMID:22592156 PMID:25741868 NCBI chr 7:132,873,532...132,898,975
Ensembl chr 7:132,873,540...132,882,325 		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 chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762 		JBrowse link
Hypotrichosis 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C11h3orf52 similar to human chromosome 3 open reading frame 52 ISO ClinVar Annotator: match by term: Hypotrichosis 15 OMIM
ClinVar		 PMID:25741868 PMID:32336749 PMID:34309526 NCBI chr11:55,166,986...55,192,273
Ensembl chr11:55,166,678...55,192,292 		JBrowse link
hypotrichosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdsn corneodesmosin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypotrichosis 2		 OMIM
CTD
ClinVar		 PMID:3652491 PMID:10793007 PMID:12754508 PMID:25741868 PMID:28492532 NCBI chr20:3,179,432...3,184,252
Ensembl chr20:3,179,438...3,184,250 		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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:146550
ClinVar Annotator: match by term: Hypotrichosis 4		 CTD
MouseDO
ClinVar		 PMID:10777357 PMID:10854110 PMID:11069461 PMID:17680008 PMID:19122663 More... NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313 		JBrowse link
G Hrurf HR upstream open reading frame ISO ClinVar Annotator: match by term: Hypotrichosis 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10777357 PMID:10854110 PMID:11069461 PMID:17680008 PMID:19122663 More...
hypotrichosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eps8l3 EPS8 like 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypotrichosis 5		 OMIM
CTD
ClinVar		 PMID:15347323 PMID:23099647 PMID:25741868 NCBI chr 2:195,514,692...195,528,085
Ensembl chr 2:195,514,692...195,528,085 		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
ISS		 OMIM:607903
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypotrichosis 6		 OMIM
MouseDO
CTD
ClinVar		 PMID:12705872 PMID:15191570 PMID:16439973 PMID:16543896 PMID:16575393 More... NCBI chr18:11,720,844...11,757,927
Ensembl chr18:11,720,975...11,756,234 		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: Alopecia Universalis Congenita, Mari type | ClinVar Annotator: match by term: Hypotrichosis 7 OMIM
ClinVar		 PMID:17095700 PMID:17333281 PMID:18445047 PMID:18830268 PMID:19365138 More... NCBI chr11:79,032,229...79,081,625
Ensembl chr11:79,033,312...79,081,625 		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 chr10:84,267,399...84,275,025
Ensembl chr10:84,267,399...84,274,965 		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 chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331 		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 chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypotrichosis and recurrent skin vesicles		 OMIM
CTD
ClinVar		 PMID:19765682 PMID:25741868 PMID:31790667 NCBI chr18:11,379,759...11,413,797
Ensembl chr18:11,377,347...11,413,797 		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 DNA:missense mutations, nonsense mutation: 455G>C (p.A104P), 428T>A (p.W95R), 865C>A (p.C240X) (human)
ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:11701398 PMID:12740761 PMID:24697860 PMID:26148450 PMID:28492532 More... RGD:1599075 NCBI chr 3:168,785,488...168,787,290
Ensembl chr 3:168,785,490...168,787,290 		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: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2484451 PMID:12740761 PMID:24697860 PMID:25741868 PMID:28492532 More... NCBI chr 3:168,785,488...168,787,290
Ensembl chr 3:168,785,490...168,787,290 		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 chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650 		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 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		JBrowse link
G Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: IFAP syndrome 1, with or without BRESHECK syndrome		 OMIM
CTD
ClinVar		 PMID:10694306 PMID:19361614 PMID:21426410 PMID:22105905 PMID:24090718 More... NCBI chr  X:37,410,914...37,461,130
Ensembl chr  X:37,410,811...37,464,430 		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 chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650 		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 chr  X:37,438,425...37,442,047
Ensembl chr  X:37,410,811...37,464,430 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CLDN1-related condition | ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome
DNA:deletion, nonsense mutation:exon:200_201delTT(human)		 OMIM
CTD
ClinVar
RGD		 PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:28492532 More... RGD:11341732 NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724 		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 NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588 		JBrowse link
inflammatory poikiloderma with hair abnormalities and acral keratoses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltv1 LTV1 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Inflammatory poikiloderma with hair abnormalities and acral keratoses OMIM
ClinVar		 PMID:34999892 NCBI chr 1:7,565,673...7,578,398
Ensembl chr 1:7,565,669...7,578,563 		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 CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:19631308 PMID:20424861 PMID:20954239 PMID:24449201 PMID:25741868 More... NCBI chr 3:133,086,858...133,303,604
Ensembl chr 3:133,086,749...133,303,604 		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
ISS		 OMIM:616367
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mandibulofacial dysostosis with alopecia		 OMIM
MouseDO
CTD
ClinVar		 PMID:16116593 PMID:20583178 PMID:25741868 PMID:25772936 PMID:28492532 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049 		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
ISS		 ClinVar Annotator: match by term: Menkes Disease | ClinVar Annotator: match by term: Menkes kinky-hair syndrome
OMIM:309400
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:
CTD Direct Evidence: marker/mechanism
DNA:deletion:exons, introns:p.G876delX2 (human)
DNA:mutations:multiple (human)
DNA:deletion:cds:p.A799_L800del (mouse)
DNA:snp:intron:c.4268+3A>T (human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:7842019 PMID:7977350 PMID:8528242 PMID:8812725 PMID:8981948 More... RGD:734621, RGD:12879459, RGD:11340200, RGD:11252186, RGD:11252183, RGD:11252182 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:28492532 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:28492532 NCBI chr  X:71,083,486...71,089,733
Ensembl chr  X:71,083,456...71,089,732 		JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22243965 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075 		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 chr 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911 		JBrowse link
G Lox lysyl oxidase ISO
ISS		 OMIM:309400 MouseDO
RGD		 PMID:8638917 RGD:1581895 NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477 		JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:28492532 NCBI chr  X:71,038,489...71,079,704
Ensembl chr  X:71,038,489...71,079,699 		JBrowse link
G Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome ClinVar PMID:28492532 NCBI chr  X:71,271,454...71,287,429
Ensembl chr  X:71,271,440...71,287,418 		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 chr 1:198,753,689...198,796,016
Ensembl chr 1:198,753,691...198,795,941 		JBrowse link
monilethrix term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt81 keratin 81 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Nodose hair		 OMIM
CTD
ClinVar		 PMID:7556444 PMID:9241275 PMID:9402962 PMID:9457912 PMID:9665406 More... NCBI chr 7:132,577,112...132,582,238
Ensembl chr 7:132,576,492...132,582,170 		JBrowse link
G Krt83 keratin 83 ISO ClinVar Annotator: match by term: Nodose hair
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:15744029 PMID:25557232 PMID:25741868 PMID:28492532 NCBI chr 7:132,604,180...132,610,869
Ensembl chr 7:132,604,128...132,610,799 		JBrowse link
G Krt86 keratin 86 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Nodose hair		 OMIM
CTD
ClinVar		 PMID:7556444 PMID:9241275 PMID:9402962 PMID:9457912 PMID:9665406 More... NCBI chr 7:132,591,489...132,598,142
Ensembl chr 7:132,591,545...132,598,021 		JBrowse link
G Krt87 keratin 87 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Nodose hair		 OMIM
CTD
ClinVar		 PMID:15744029 PMID:25557232 PMID:25741868 PMID:28492532 NCBI chr 7:132,547,388...132,555,005
Ensembl chr 7:132,548,141...132,554,978 		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
CTD Direct Evidence: marker/mechanism
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
CTD		 PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:17576681 More... NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057 		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 OMIM
ClinVar		 PMID:25741868 PMID:30239107 NCBI chr 6:40,329,831...40,336,444
Ensembl chr 6:40,329,964...40,336,440 		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 OMIM
ClinVar		 PMID:25741868 PMID:35482014 NCBI chr 2:203,804,620...203,858,196
Ensembl chr 2:203,804,936...203,840,433 		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 chr 2:203,855,484...203,922,155
Ensembl chr 2:203,859,175...203,922,132 		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 chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493 		JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582 		JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr  X:33,962,440...33,992,203
Ensembl chr  X:33,963,657...33,992,115 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome | ClinVar Annotator: match by term: SMARCA2-related BAFopathy | ClinVar Annotator: match by term: SMARCA2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19606471 PMID:22366787 More... NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684 		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 syndrome-like disorder with loose anagen hair ClinVar PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 More... NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337 		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: Noonan syndrome-like disorder with loose anagen hair 1 | ClinVar Annotator: match by term: SHOC2-related condition
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:multiple (human)
Noonan syndrome-like disorder with loose anagen hair 1;
DNA:mutation:cds:c.4A>G (p.S2G)(human)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19684605 PMID:20882035 More... RGD:155804265, RGD:11071098, RGD:11071178 NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337 		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 chr 6:23,958,813...23,992,841
Ensembl chr 6:23,960,998...23,992,824 		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 phospholipase domain containing 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome		 OMIM
CTD
ClinVar		 PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:23733235 More... NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734 		JBrowse link
palmoplantar keratoderma and congenital alopecia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Autosomal dominant palmoplantar keratoderma and congenital alopecia OMIM
ClinVar		 PMID:12457340 PMID:15879313 PMID:25168385 PMID:25327171 PMID:25741868 More... NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
PALMOPLANTAR KERATODERMA AND WOOLLY HAIR term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Palmoplantar keratoderma and woolly hair | ClinVar Annotator: match by term: Skin fragility woolly hair syndrome
ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome		 ClinVar PMID:2450378 PMID:3198322 PMID:9229116 PMID:9536098 PMID:10395892 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Kank2 KN motif and ankyrin repeat domains 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Palmoplantar keratoderma and woolly hair		 OMIM
CTD
ClinVar		 PMID:24671081 PMID:25741868 PMID:28492532 NCBI chr 8:20,311,676...20,341,107
Ensembl chr 8:20,311,676...20,340,900 		JBrowse link
G Tuft1 tuftelin 1 ISO ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome ClinVar PMID:36689522 NCBI chr 2:182,259,457...182,306,296
Ensembl chr 2:182,260,398...182,306,192 		JBrowse link
photosensitive trichothiodystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9195225 More... NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Gtf2h5 general transcription factor IIH subunit 5 ISO RGD PMID:22824526 RGD:7246919 NCBI chr 1:46,656,804...46,663,512
Ensembl chr 1:46,656,859...46,664,939 		JBrowse link
G Mplkip M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr17:47,373,624...47,376,199
Ensembl chr17:47,373,845...47,376,204 		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: Pili torti and developmental delay OMIM
ClinVar		 PMID:25741868 PMID:31125343 NCBI chr 8:11,896,768...11,965,282
Ensembl chr 8:11,898,532...11,965,267 		JBrowse link
Pseudofolliculitis Barbae term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt75 keratin 75 susceptibility ISO ClinVar Annotator: match by term: Pseudofolliculitis barbae
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15086549 PMID:25741868 NCBI chr 7:132,687,101...132,697,360
Ensembl chr 7:132,688,237...132,697,345 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 More... NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400 		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: 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 chr 8:106,922,058...106,991,678
Ensembl chr 8:106,922,978...106,991,089 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type		 OMIM
CTD
ClinVar		 PMID:15726110 PMID:25741868 PMID:27213289 PMID:28492532 PMID:34163424 NCBI chr 5:60,780,441...60,797,583
Ensembl chr 5:60,780,392...60,814,950 		JBrowse link
G Trim14 tripartite motif-containing 14 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type ClinVar PMID:15726110 PMID:25741868 PMID:27213289 PMID:28492532 PMID:34163424 NCBI chr 5:60,800,568...60,824,858
Ensembl chr 5:60,800,032...60,824,858 		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
ISS		 ClinVar Annotator: match by term: T-cell immunodeficiency, congenital alopecia, and nail dystrophy
OMIM:601705
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8911612 PMID:9536098 PMID:10206641 PMID:15180707 PMID:15897400 More... NCBI chr10:63,251,400...63,273,710
Ensembl chr10:63,251,400...63,273,710 		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 chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595 		JBrowse link
G Abi3 ABI family, member 3 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,769,819...80,780,816
Ensembl chr10:80,769,822...80,780,816 		JBrowse link
G Acsf2 acyl-CoA synthetase family member 2 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,504,510...79,546,714
Ensembl chr10:79,504,511...79,546,673 		JBrowse link
G Ankrd40 ankyrin repeat domain 40 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,282,075...79,295,322
Ensembl chr10:79,282,075...79,295,320 		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 chr10:81,024,056...81,026,780
Ensembl chr10:81,023,925...81,027,124
Ensembl chr10:81,023,925...81,027,124 		JBrowse link
G B4galnt2 beta-1,4-N-acetyl-galactosaminyl transferase 2 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,801,594...80,828,005
Ensembl chr10:80,802,941...80,857,700 		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 chr10:79,354,998...79,422,960
Ensembl chr10:79,355,008...79,422,752 		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 chr10:81,055,467...81,069,298 JBrowse link
G Chad chondroadherin ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,512,170...79,515,941
Ensembl chr10:79,511,931...79,515,940 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9467018 PMID:9783705 PMID:17950683 PMID:18492670 PMID:20510228 More... NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872 		JBrowse link
G Dlx4 distal-less homeobox 4 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,085,037...80,090,434
Ensembl chr10:80,085,465...80,090,456 		JBrowse link
G Eme1 essential meiotic structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,586,718...79,595,515
Ensembl chr10:79,586,729...79,595,435 		JBrowse link
G Epn3 epsin 3 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,438,978...79,449,516
Ensembl chr10:79,438,978...79,447,356 		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 chr10:80,281,411...80,325,345
Ensembl chr10:80,281,408...80,325,343 		JBrowse link
G Gip gastric inhibitory polypeptide ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,968,360...80,976,506
Ensembl chr10:80,968,352...80,976,503 		JBrowse link
G Gngt2 G protein subunit gamma transducin 2 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,776,003...80,784,235 JBrowse link
G Hoxb13 homeo box B13 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:81,160,498...81,162,777
Ensembl chr10:81,160,498...81,162,777 		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 chr10:80,908,300...80,951,097
Ensembl chr10:80,908,076...80,951,129 		JBrowse link
G Itga3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118 		JBrowse link
G Kat7 lysine acetyltransferase 7 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,221,519...80,255,590
Ensembl chr10:80,221,524...80,255,567 		JBrowse link
G Lrrc59 leucine rich repeat containing 59 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,572,295...79,586,953
Ensembl chr10:79,572,317...79,602,533 		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 chr10:79,240,050...79,276,555
Ensembl chr10:79,240,563...79,276,538 		JBrowse link
G Mrpl27 mitochondrial ribosomal protein L27 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,595,459...79,601,242
Ensembl chr10:79,595,479...79,601,239 		JBrowse link
G Mycbpap Mycbp associated protein ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,450,319...79,470,977
Ensembl chr10:79,450,324...79,470,828 		JBrowse link
G Ngfr nerve growth factor receptor ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518 		JBrowse link
G Nxph3 neurexophilin 3 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,456,283...80,459,949
Ensembl chr10:80,455,429...80,462,415 		JBrowse link
G Pdk2 pyruvate dehydrogenase kinase 2 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,972,550...79,987,074
Ensembl chr10:79,972,556...79,987,085 		JBrowse link
G Phb1 prohibitin 1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,605,268...80,618,043
Ensembl chr10:80,605,251...80,618,042 		JBrowse link
G Phospho1 phosphoethanolamine/phosphocholine phosphatase 1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,762,062...80,769,596
Ensembl chr10:80,760,792...80,770,342 		JBrowse link
G Ppp1r9b protein phosphatase 1, regulatory subunit 9B ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,938,055...79,954,085
Ensembl chr10:79,938,066...79,954,083 		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 chr10:79,485,253...79,499,616
Ensembl chr10:79,489,909...79,499,573 		JBrowse link
G Samd14 sterile alpha motif domain containing 14 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,957,111...79,972,347
Ensembl chr10:79,957,758...79,972,341 		JBrowse link
G Sgca sarcoglycan, alpha ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,904,698...79,922,808
Ensembl chr10:79,908,738...79,922,813 		JBrowse link
G Slc35b1 solute carrier family 35, member B1 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,327,921...80,335,279
Ensembl chr10:80,327,945...80,335,274 		JBrowse link
G Snf8 SNF8 subunit of ESCRT-II ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,984,337...80,996,724
Ensembl chr10:80,984,363...80,996,734 		JBrowse link
G Spata20 spermatogenesis associated 20 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,427,525...79,435,472
Ensembl chr10:79,427,528...79,434,368 		JBrowse link
G Spop speckle type BTB/POZ protein ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,358,121...80,438,983
Ensembl chr10:80,358,124...80,483,955 		JBrowse link
G Tac4 tachykinin precursor 4 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,207,824...80,216,156
Ensembl chr10:80,207,610...80,216,156 		JBrowse link
G Tmem92 transmembrane protein 92 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,749,242...79,760,807 JBrowse link
G Ttll6 tubulin tyrosine ligase like 6 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:81,081,985...81,118,009
Ensembl chr10:81,091,975...81,127,234 		JBrowse link
G Ube2z ubiquitin-conjugating enzyme E2Z ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,997,816...81,016,936
Ensembl chr10:80,997,817...81,016,936 		JBrowse link
G Xylt2 xylosyltransferase 2 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:79,605,910...79,619,482
Ensembl chr10:79,606,007...79,619,391 		JBrowse link
G Zfp652 zinc finger protein 652 ISO ClinVar Annotator: match by term: Tricho-dento-osseous syndrome ClinVar PMID:25741868 NCBI chr10:80,626,555...80,706,397
Ensembl chr10:80,649,400...80,698,674 		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 NCBI chr20:3,976,512...3,982,389
Ensembl chr20:3,976,518...3,982,355 		JBrowse link
G Skic2 SKI2 subunit of superkiller complex ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Trichohepatoenteric syndrome		 CTD
ClinVar		 PMID:16199547 PMID:22444670 PMID:25741868 PMID:27050310 PMID:28492532 More... NCBI chr20:3,982,494...3,993,261
Ensembl chr20:3,982,593...3,993,261 		JBrowse link
G Skic3 SKI3 subunit of superkiller complex ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Trichohepatoenteric syndrome		 CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:20176027 PMID:21120949 PMID:24033266 More... NCBI chr 2:5,631,544...5,783,643
Ensembl chr 2:5,631,635...5,751,626 		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 chr 4:69,114,850...69,193,989
Ensembl chr 4:69,114,269...69,193,934 		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:25326635 More... NCBI chr 2:5,631,544...5,783,643
Ensembl chr 2:5,631,635...5,751,626 		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 chr20:3,982,494...3,993,261
Ensembl chr20:3,982,593...3,993,261 		JBrowse link
Trichohepatoneurodevelopmental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc47 coiled-coil domain containing 47 ISO ClinVar Annotator: match by term: Trichohepatoneurodevelopmental syndrome OMIM
ClinVar		 PMID:25741868 PMID:30401460 NCBI chr10:91,130,303...91,148,829
Ensembl chr10:91,130,303...91,148,881 		JBrowse link
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 chr 7:83,364,478...83,369,319
Ensembl chr 7:83,364,204...83,369,317 		JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:68,333,981...68,372,149
Ensembl chr 9:68,333,980...68,372,220 		JBrowse link
G Anxa13 annexin A13 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:89,884,356...89,936,907
Ensembl chr 7:89,884,356...89,936,907 		JBrowse link
G Atad2 ATPase family, AAA domain containing 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:89,634,123...89,676,738
Ensembl chr 7:89,634,123...89,676,738 		JBrowse link
G C7h8orf76 similar to human chromosome 8 open reading frame 76 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:89,558,890...89,569,810
Ensembl chr 7:89,558,909...89,569,810 		JBrowse link
G Ccn3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:86,094,000...86,101,022
Ensembl chr 7:86,094,000...86,101,019 		JBrowse link
G Col14a1 collagen type XIV alpha 1 chain ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:86,722,093...86,937,215
Ensembl chr 7:86,722,094...86,937,214 		JBrowse link
G Colec10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:85,744,895...85,806,368
Ensembl chr 7:85,744,895...85,805,675 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Deptor DEP domain containing MTOR-interacting protein ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:86,514,859...86,668,817
Ensembl chr 7:86,514,988...86,667,773 		JBrowse link
G Derl1 derlin 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:89,404,413...89,427,095
Ensembl chr 7:89,404,417...89,427,145 		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 chr 7:86,482,588...86,498,212
Ensembl chr 7:86,482,588...86,498,212 		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 chr 7:83,091,037...83,174,451
Ensembl chr 7:83,091,039...83,174,451 		JBrowse link
G Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:86,202,345...86,325,050
Ensembl chr 7:86,202,350...86,324,827 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595 		JBrowse link
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:84,375,769...84,654,625
Ensembl chr 7:84,375,784...84,655,357 		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 chr 7:89,522,826...89,547,284
Ensembl chr 7:89,522,826...89,547,388 		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 chr 7:89,969,558...90,007,546
Ensembl chr 7:89,969,605...90,007,556 		JBrowse link
G Fbxo32 F-box protein 32 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:89,731,428...89,764,997
Ensembl chr 7:89,730,232...89,765,436 		JBrowse link
G Fer1l6 fer-1-like family member 6 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:90,093,567...90,216,907
Ensembl chr 7:90,061,924...90,215,214 		JBrowse link
G Has2 hyaluronan synthase 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:88,113,326...88,139,337
Ensembl chr 7:88,113,326...88,128,933 		JBrowse link
G Ikzf2 IKAROS family zinc finger 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:71,046,038...71,191,296
Ensembl chr 9:71,042,440...71,190,867 		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 chr 9:68,211,151...68,316,992
Ensembl chr 9:68,211,189...68,300,222 		JBrowse link
G Klhl38 kelch-like family member 38 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:89,854,015...89,864,352
Ensembl chr 7:89,855,148...89,864,276 		JBrowse link
G Lancl1 LanC like glutathione S-transferase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:68,515,052...68,548,646
Ensembl chr 9:68,518,574...68,548,628 		JBrowse link
G Lratd2 LRAT domain containing 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:92,376,713...92,387,045
Ensembl chr 7:92,362,194...92,388,189 		JBrowse link
G Mal2 mal, T-cell differentiation protein 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:85,900,453...85,933,433
Ensembl chr 7:85,900,453...85,933,429 		JBrowse link
G Map2 microtubule-associated protein 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809 		JBrowse link
G Med30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:84,004,735...84,026,474
Ensembl chr 7:84,004,722...84,026,595 		JBrowse link
G Mrpl13 mitochondrial ribosomal protein L13 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:86,951,541...86,973,147
Ensembl chr 7:86,951,541...86,973,577 		JBrowse link
G Mtbp MDM2 binding protein ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:86,973,215...87,055,775
Ensembl chr 7:86,973,069...87,050,827 		JBrowse link
G Mtss1 MTSS I-BAR domain containing 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:90,488,751...90,628,007
Ensembl chr 7:90,488,754...90,627,968 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Myl1 myosin, light chain 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:68,437,514...68,458,256
Ensembl chr 9:68,437,517...68,458,261 		JBrowse link
G Ndufb9 NADH:ubiquinone oxidoreductase subunit B9 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:90,480,948...90,487,367
Ensembl chr 7:90,436,621...90,488,009 		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 chr 7:90,936,112...91,173,435
Ensembl chr 7:90,936,112...91,164,899 		JBrowse link
G Ntaq1 N-terminal glutamine amidase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:89,684,318...89,704,484
Ensembl chr 7:89,684,323...89,704,474 		JBrowse link
G Pvt1 Pvt1 oncogene ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:93,656,528...93,879,938 JBrowse link
G Rad21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817 		JBrowse link
G Rnf139 ring finger protein 139 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:90,439,726...90,450,911
Ensembl chr 7:90,436,621...90,488,009 		JBrowse link
G Rpe ribulose-5-phosphate-3-epimerase ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:68,191,027...68,211,295
Ensembl chr 9:68,191,292...68,211,591 		JBrowse link
G Samd12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:84,768,850...85,064,057
Ensembl chr 7:84,768,254...85,271,766 		JBrowse link
G Slc30a8 solute carrier family 30 member 8 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:83,591,993...83,627,786
Ensembl chr 7:83,591,993...83,626,305 		JBrowse link
G Sntb1 syntrophin, beta 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:87,060,926...87,329,315
Ensembl chr 7:87,060,926...87,329,315 		JBrowse link
G Spag16 sperm associated antigen 16 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:71,333,005...72,252,772
Ensembl chr 9:71,332,992...72,252,708 		JBrowse link
G Sqle squalene epoxidase ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:90,867,973...90,883,623
Ensembl chr 7:90,868,011...90,883,618 		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 chr 7:86,422,613...86,479,616
Ensembl chr 7:86,422,613...86,479,616 		JBrowse link
G Tatdn1 TatD DNase domain containing 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:90,449,979...90,481,000
Ensembl chr 7:90,441,079...90,481,133 		JBrowse link
G Tbc1d31 TBC1 domain family, member 31 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:89,427,354...89,506,894
Ensembl chr 7:89,426,780...89,506,894 		JBrowse link
G Tmem65 transmembrane protein 65 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:90,336,997...90,378,930
Ensembl chr 7:90,274,142...90,379,474 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538 		JBrowse link
G Trib1 tribbles pseudokinase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:91,206,579...91,213,126
Ensembl chr 7:91,206,579...91,214,731 		JBrowse link
G Trmt12 tRNA methyltransferase 12 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:90,417,846...90,419,472
Ensembl chr 7:90,417,862...90,419,867 		JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO
ISS		 ClinVar Annotator: match by term: Trichorhinophalangeal Syndrome Type I | ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I
OMIM:190350
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:10615131 PMID:11112658 PMID:11359471 PMID:11807863 PMID:11950061 More... NCBI chr 7:81,916,668...82,142,733
Ensembl chr 7:81,921,601...82,141,905 		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 chr 9:68,011,940...68,190,135
Ensembl chr 9:68,011,728...68,187,659 		JBrowse link
G Utp23 UTP23, small subunit processome component ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:83,185,187...83,196,652
Ensembl chr 7:83,189,656...83,196,655 		JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:90,884,192...90,936,096
Ensembl chr 7:90,884,197...90,936,103 		JBrowse link
G Zhx1 zinc fingers and homeoboxes 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:89,582,363...89,611,337
Ensembl chr 7:89,582,243...89,611,264 		JBrowse link
G Zhx2 zinc fingers and homeoboxes 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:89,226,358...89,374,266
Ensembl chr 7:89,226,463...89,374,378 		JBrowse link
trichorhinophalangeal syndrome type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10615131 PMID:11112658 PMID:11807863 PMID:11950061 More... NCBI chr 7:81,916,668...82,142,733
Ensembl chr 7:81,921,601...82,141,905 		JBrowse link
Uncombable Hair Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Padi3 peptidyl arginine deiminase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:153,089,717...153,117,146
Ensembl chr 5:153,089,717...153,117,146 		JBrowse link
G Tchh trichohyalin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:179,103,660...179,112,014
Ensembl chr 2:179,109,609...179,110,985
Ensembl chr 2:179,109,609...179,110,985 		JBrowse link
G Tgm3 transglutaminase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:117,228,661...117,264,078
Ensembl chr 3:117,228,661...117,264,075 		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 chr 5:153,089,717...153,117,146
Ensembl chr 5:153,089,717...153,117,146 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Uncombable hair syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		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: Uncombable hair syndrome 2 ClinVar
OMIM		 PMID:24183230 PMID:27866708 NCBI chr 3:117,228,661...117,264,078
Ensembl chr 3:117,228,661...117,264,075 		JBrowse link
Uncombable Hair Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tchh trichohyalin ISO ClinVar Annotator: match by term: Uncombable hair syndrome 3 OMIM
ClinVar		 PMID:25741868 PMID:27866708 NCBI chr 2:179,103,660...179,112,014
Ensembl chr 2:179,109,609...179,110,985
Ensembl chr 2:179,109,609...179,110,985 		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 chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:6876115 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17710875 More... NCBI chr 3:55,863,776...55,895,601
Ensembl chr 3:55,863,799...55,891,820 		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 chr 3:55,731,453...55,863,652
Ensembl chr 3:55,770,167...55,863,676 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      skin disease 3968
        hair disease 328
          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 1
          Pseudomonilethrix 0
          Rodrigues Blindness 0
          Tricho-Dento-Osseous Syndrome 1 0
          Trichodysplasia-Xeroderma 0
          Trichohepatoneurodevelopmental Syndrome 1
          Trichostasis Spinulosa 0
          Uncombable Hair Syndrome + 4
          White Forelock with Malformations 0
          brachycephaly, trichomegaly, and developmental delay 1
          familial isolated trichomegaly 1
          familial woolly hair syndrome + 9
          folliculitis + 1
          hypertrichosis + 29
          hypotrichosis + 148
          inflammatory poikiloderma with hair abnormalities and acral keratoses 1
          monilethrix + 4
          photosensitive trichothiodystrophy 1 3
          pure hair and nail ectodermal dysplasia + 2
          superficial mycosis + 0
          tinea capitis + 0
          trichodontoosseous syndrome 44
          trichohepatoenteric syndrome + 4
          trichorhinophalangeal syndrome type I 59
          trichorhinophalangeal syndrome type III 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            skin disease 3968
              hair disease 328
                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 1
                Pseudomonilethrix 0
                Rodrigues Blindness 0
                Tricho-Dento-Osseous Syndrome 1 0
                Trichodysplasia-Xeroderma 0
                Trichohepatoneurodevelopmental Syndrome 1
                Trichostasis Spinulosa 0
                Uncombable Hair Syndrome + 4
                White Forelock with Malformations 0
                brachycephaly, trichomegaly, and developmental delay 1
                familial isolated trichomegaly 1
                familial woolly hair syndrome + 9
                folliculitis + 1
                hypertrichosis + 29
                hypotrichosis + 148
                inflammatory poikiloderma with hair abnormalities and acral keratoses 1
                monilethrix + 4
                photosensitive trichothiodystrophy 1 3
                pure hair and nail ectodermal dysplasia + 2
                superficial mycosis + 0
                tinea capitis + 0
                trichodontoosseous syndrome 44
                trichohepatoenteric syndrome + 4
                trichorhinophalangeal syndrome type I 59
                trichorhinophalangeal syndrome type III 1
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