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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:Diseases affecting the orderly growth and persistence of hair.
Synonyms:exact_synonym: hair diseases
 primary_id: MESH:D006201;   RDO:0000413
 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 chr12:242,717...255,736
Ensembl chr12:242,714...255,305
JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21239484 NCBI chr30:7,144,727...7,248,014
Ensembl chr30:7,144,570...7,248,000
JBrowse link
G KRT83 keratin 83 susceptibility ISO protein:mutation: ; E403K; monilethrix, OMIM:158000 RGD PMID:9402962 RGD:1600197 NCBI chr27:2,746,175...2,752,472 JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19684605 NCBI chr28:22,241,886...22,338,418
Ensembl chr28:22,285,125...22,336,545
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 chr28:12,670,885...12,740,124
Ensembl chr28:12,670,885...12,740,740
JBrowse link
G AR androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15902657 NCBI chr24:34,713,390...34,731,461
NCBI chr  X:51,969,785...52,167,450
Ensembl chr  X:51,969,785...52,151,912
JBrowse link
G ASXL2 ASXL transcriptional regulator 2 ISO ClinVar Annotator: match by term: Alopecia ClinVar PMID:30311386 NCBI chr17:19,914,026...20,065,141
Ensembl chr17:19,895,568...20,044,691
JBrowse link
G BDNF brain derived neurotrophic factor ISO protein:increased expression:dermal papilla: RGD PMID:21729031 RGD:8657081 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
JBrowse link
G BRD4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25242322 NCBI chr20:46,844,795...46,927,620
Ensembl chr20:46,891,514...46,927,608
JBrowse link
G CDSN corneodesmosin ISO hypotrichosis simplex of the scalp, OMIM:146520 DNA:point_mutation:CDS:C643T or C598T -> amino acid Q215X or Q200X RGD PMID:12754508 RGD:1599783 NCBI chr12:819,488...824,015
Ensembl chr12:820,467...823,986
JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Hair loss ClinVar PMID:30311386 NCBI chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429
JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Hair loss ClinVar PMID:30311386 NCBI chr15:18,430,601...18,492,564
Ensembl chr15:18,431,019...18,491,920
JBrowse link
G CNKSR2 connector enhancer of kinase suppressor of Ras 2 ISO ClinVar Annotator: match by term: Hair loss ClinVar PMID:30311386 NCBI chr  X:17,187,742...17,464,526
Ensembl chr  X:17,187,742...17,463,102
JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Hair loss ClinVar PMID:28492532, PMID:30311386 NCBI chr 9:50,706,852...50,856,691
Ensembl chr 9:50,770,277...50,854,728
JBrowse link
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Baldness ClinVar PMID:12787275, PMID:22266148, PMID:25741868, PMID:28492532, PMID:28830826, PMID:30311386, PMID:32860008 NCBI chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935
JBrowse link
G CRH corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:21359208 NCBI chr29:15,831,944...15,840,560
Ensembl chr29:15,831,944...15,834,384
JBrowse link
G DLA-64 MHC class I DLA-64 ISO human gene in rat model; DNA:polymorphisms:cds:HLA-B*2705 (human) RGD PMID:7573371 RGD:7387278 NCBI chr12:983,573...986,969 JBrowse link
G DST dystonin ISO ClinVar Annotator: match by term: Hair loss ClinVar PMID:30311386 NCBI chr12:23,715,637...24,195,220
Ensembl chr12:23,716,466...24,195,416
JBrowse link
G ESR2 estrogen receptor 2 susceptibility
no_association
ISO DNA:snps:enhancer, intron g.-20301C>T, g.34493G>A, g.16688A>G (rs2022748, rs10137185, rs17101774) (human)
DNA:snps:multiple (human)
RGD PMID:22014031, PMID:22509838 RGD:8694094, RGD:8694095 NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691
JBrowse link
G FOXN1 forkhead box N1 ISO T-cell immunodeficiency, congenital alopecia, and nail dystrophy, OMIM:601705 RGD PMID:10206641 RGD:1599846 NCBI chr 9:42,734,228...42,749,856
Ensembl chr 9:42,735,656...42,748,632
JBrowse link
G HR HR lysine demethylase and nuclear receptor corepressor ISO CTD Direct Evidence: marker/mechanism
alopecia universalis congenita, OMIM:203655 DNA:point_mutation:CDS:T3407A -> amino acid V1136D
CTD
RGD
PMID:9736769, PMID:16455232 RGD:1599575 NCBI chr25:35,120,566...35,136,560
Ensembl chr25:35,119,784...35,135,545
JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:decreased secretion:dermal papilla:
protein:increased expression:plasma:
RGD PMID:10827403, PMID:24499417 RGD:8549462, RGD:8549500 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
JBrowse link
G MBD5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: Hair loss ClinVar PMID:28492532, PMID:30311386 NCBI chr19:49,815,388...50,250,071
Ensembl chr19:50,186,364...50,247,398
JBrowse link
G MED13L mediator complex subunit 13L ISO ClinVar Annotator: match by term: Hair loss ClinVar PMID:30311386 NCBI chr26:12,768,762...13,031,251
Ensembl chr26:12,770,588...13,030,512
JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Baldness ClinVar PMID:15064763, PMID:16437557, PMID:16714318, PMID:16835246, PMID:17296794, PMID:19889647, PMID:21285398, PMID:22442078, PMID:24126688, PMID:24604904, PMID:24862862, PMID:24863639, PMID:25025039, PMID:25741868, PMID:26085578, PMID:26382835, PMID:26467025, PMID:26686600, PMID:26801520, PMID:27549087, PMID:27863451, PMID:28492532, PMID:30311386, PMID:31188717 NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225
JBrowse link
G MLPH melanophilin IEA Coat colour, dilution, MLPH-related OMIA PMID:8257319, PMID:12358609, PMID:15958794, PMID:15960853, PMID:16131833, PMID:17519392, PMID:19436637, PMID:29349785 NCBI chr25:48,121,499...48,167,535
Ensembl chr25:48,121,499...48,170,710
JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18381794 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20561897 NCBI chr 7:38,503,072...38,542,556
Ensembl chr 7:38,503,067...38,542,127
JBrowse link
G PLCD1 phospholipase C delta 1 ISO RGD PMID:12805213 RGD:1302551 NCBI chr23:7,782,495...7,804,969
Ensembl chr23:7,781,787...7,805,336
JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Hair loss ClinVar PMID:30311386 NCBI chr 2:84,320,529...84,343,562
Ensembl chr 2:84,320,529...84,343,562
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29367455 NCBI chr 9:15,180,940...15,203,035
Ensembl chr 9:15,181,393...15,200,683
JBrowse link
G PTDSS1 phosphatidylserine synthase 1 ISO ClinVar Annotator: match by term: Hair loss ClinVar PMID:30311386 NCBI chr29:40,747,840...40,819,162
Ensembl chr29:40,768,237...40,925,800
JBrowse link
G RHOA ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:31570889 NCBI chr20:39,824,552...39,888,089
Ensembl chr20:39,824,575...39,887,215
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Hair loss ClinVar PMID:25741868, PMID:28259615, PMID:28492532, PMID:30311386 NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493
JBrowse link
G SLC1A1 solute carrier family 1 member 1 ISO ClinVar Annotator: match by term: Hair loss ClinVar PMID:30311386 NCBI chr 1:92,898,274...92,978,260
Ensembl chr 1:92,898,274...92,978,260
JBrowse link
G SPATA6L spermatogenesis associated 6 like ISO ClinVar Annotator: match by term: Hair loss ClinVar PMID:30311386 NCBI chr 1:92,994,949...93,041,135
Ensembl chr 1:92,994,946...93,041,135
JBrowse link
G SRD5A2 steroid 5 alpha-reductase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17136762 NCBI chr17:25,017,113...25,056,156
Ensembl chr17:25,017,113...25,056,544
JBrowse link
G SUPV3L1 Suv3 like RNA helicase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19145458 NCBI chr 4:20,313,902...20,342,375
Ensembl chr 4:20,313,814...20,340,882
JBrowse link
G TPMT thiopurine S-methyltransferase ISO RGD PMID:24322830 RGD:11038725 NCBI chr35:16,928,991...16,953,891
Ensembl chr35:16,929,240...16,953,229
JBrowse link
G VDR vitamin D receptor ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:1338926, PMID:11713240, PMID:22466564 RGD:8157637 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
JBrowse link
G WWOX WW domain containing oxidoreductase ISO ClinVar Annotator: match by term: Hair loss ClinVar PMID:30311386 NCBI chr 5:72,298,254...73,243,667
Ensembl chr 5:72,299,157...73,261,406
JBrowse link
G ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20548961 NCBI chr21:41,243,214...41,292,458
Ensembl chr21:41,243,294...41,291,995
JBrowse link
G ZFP36 ZFP36 ring finger protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:15944294 NCBI chr 1:113,815,972...113,818,093
Ensembl chr 1:113,816,273...113,818,065
JBrowse link
alopecia areata term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO DNA:SNP:3'UTR:rs3087243(human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:20596022, PMID:23567921 RGD:7411701 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr32:598,406...599,925
Ensembl chr32:597,987...599,979
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22358057 NCBI chr  X:55,882,433...55,884,582
Ensembl chr  X:55,882,433...55,884,582
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
JBrowse link
G EHMT2 euchromatic histone lysine methyltransferase 2 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr12:1,341,202...1,354,602
Ensembl chr12:1,341,191...1,354,584
JBrowse link
G HDAC1 histone deacetylase 1 ISO mRNA:increased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr 2:68,901,339...68,936,473
Ensembl chr 2:68,901,651...68,936,186
JBrowse link
G HDAC2 histone deacetylase 2 ISO mRNA:decreased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr12:70,053,822...70,083,491
Ensembl chr12:70,053,297...70,103,578
JBrowse link
G HDAC7 histone deacetylase 7 ISO mRNA:decreased expression:mononuclear cell: RGD PMID:21936853 RGD:9587460 NCBI chr27:6,941,287...6,968,370
Ensembl chr27:6,929,829...6,979,317
JBrowse link
G IKZF4 IKAROS family zinc finger 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr10:332,614...360,470
Ensembl chr10:342,097...357,364
JBrowse link
G IL18 interleukin 18 susceptibility ISO DNA:SNPs:promoter, exon:-137G>C (rs187238), rs549908 (human) RGD PMID:24446726 RGD:8655875 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
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 chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:3261574, PMID:16297194 RGD:8663449, RGD:8663450 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
JBrowse link
G IL2RA interleukin 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 2:29,892,130...29,948,926
Ensembl chr 2:29,894,125...29,944,643
JBrowse link
G KDM1A lysine demethylase 1A ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr 2:76,313,742...76,375,716
Ensembl chr 2:76,156,434...76,375,632
JBrowse link
G KDM4A lysine demethylase 4A ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr15:16,521,760...16,570,965
Ensembl chr15:16,521,700...16,571,000
JBrowse link
G KDM4B lysine demethylase 4B ISO mRNA:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr20:54,713,900...54,843,991
Ensembl chr20:54,634,121...54,820,816
JBrowse link
G KDM4C lysine demethylase 4C ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr11:27,662,764...28,101,432
Ensembl chr11:27,693,536...28,101,801
JBrowse link
G KDM5A lysine demethylase 5A ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:21936853 RGD:9587460 NCBI chr27:42,364,606...42,447,839
Ensembl chr27:42,360,456...42,447,821
JBrowse link
G LOC100683099 NKG2D ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr 1:40,635,616...40,639,865 JBrowse link
G LOC100856137 HLA class II histocompatibility antigen, DQ beta 2 chain susceptibility ISO DNA:polymorphism: : HLA-DQB1*0604; RGD PMID:16231148 RGD:8547568 NCBI chr12:2,244,820...2,250,822
Ensembl chr12:2,244,820...2,251,662
JBrowse link
G NOTCH4 notch receptor 4 ISO RGD PMID:12589427 RGD:6480681 NCBI chr12:1,585,249...1,608,721
Ensembl chr12:1,587,918...1,607,760
JBrowse link
G PRDX5 peroxiredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr18:52,750,977...52,754,432 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 chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858
JBrowse link
G STX17 syntaxin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20596022 NCBI chr11:56,885,874...56,951,714
Ensembl chr11:56,885,174...56,945,767
JBrowse link
Alopecia Congenita Keratosis Palmoplantaris 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: Alopecia congenita keratosis palmoplantaris ClinVar PMID:25168385 NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
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 OMIM NCBI chr25:35,120,566...35,136,560
Ensembl chr25:35,119,784...35,135,545
JBrowse link
G IL4 interleukin 4 ISO protein:increased expression:serum RGD PMID:20671941 RGD:7829773 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
JBrowse link
Alopecia, Hypogonadism, Extrapyramidal Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCAF17 DDB1 and CUL4 associated factor 17 ISO ClinVar Annotator: match by term: Progressive extrapyramidal disorder with primary hypogonadism and alopecia ClinVar PMID:6876115, PMID:17710875, PMID:18049083, PMID:18175354, PMID:18414213, PMID:19026396, PMID:20507343, PMID:21044051, PMID:24015686, PMID:24088041, PMID:25326637, PMID:25741868, PMID:26612766, PMID:26633545, PMID:26664771, PMID:28492532, PMID:29546359 NCBI chr36:15,906,013...15,961,318
Ensembl chr36:15,905,085...15,938,910
JBrowse link
G METTL8 methyltransferase like 8 ISO ClinVar Annotator: match by term: Progressive extrapyramidal disorder with primary hypogonadism and alopecia ClinVar PMID:17710875, PMID:19026396, PMID:26612766, PMID:28492532 NCBI chr36:15,816,518...15,906,019
Ensembl chr36:15,819,138...15,905,064
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 OMIM NCBI chr14:8,043,159...8,074,174
Ensembl chr14:8,043,197...8,074,145
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 OMIM NCBI chr34:19,221,034...19,228,866
Ensembl chr34:19,221,107...19,228,716
JBrowse link
Alopecia-Mental Retardation Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LSS lanosterol synthase ISO OMIM NCBI chr31:39,479,255...39,502,439
Ensembl chr31:39,480,581...39,503,042
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 chr10:45,157,418...45,197,323
Ensembl chr10:45,138,538...45,197,244
JBrowse link
Anhidrotic Ectodermal Dysplasia with T-Cell Immunodeficiency, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NFKBIA NFKB inhibitor alpha ISO OMIM NCBI chr 8:14,100,203...14,103,453
Ensembl chr 8:14,100,671...14,103,433
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 OMIM NCBI chr25:35,120,566...35,136,560
Ensembl chr25:35,119,784...35,135,545
JBrowse link
autosomal dominant woolly hair term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT74 keratin 74 ISO OMIM NCBI chr27:2,519,244...2,528,107 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 OMIM NCBI chr 5:4,652,493...4,666,728
Ensembl chr 5:4,651,863...4,691,069
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 chr 9:21,940,413...21,947,487
Ensembl chr 9:21,940,413...21,947,487
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:21426374 NCBI chr22:3,110,797...3,112,973
Ensembl chr22:3,111,462...3,112,499
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:21426374 NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726
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 OMIM NCBI chr 9:21,940,413...21,947,487
Ensembl chr 9:21,940,413...21,947,487
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 chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583
JBrowse link
G FOXE1 forkhead box E1 ISO OMIM NCBI chr11:55,143,389...55,145,954 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 OMIM NCBI chr25:49,165,450...49,216,545
Ensembl chr25:49,165,641...49,166,123
JBrowse link
Basaran Yilmaz Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
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 OMIM NCBI chr37:25,261,704...25,266,517
Ensembl chr37:25,264,012...25,266,516
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 OMIM NCBI chr 3:25,208,812...25,210,492
Ensembl chr 3:25,208,920...25,210,489
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 OMIM NCBI chr 1:39,221,243...39,478,057
Ensembl chr 1:39,146,020...39,476,914
JBrowse link
Carvajal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin ISO OMIM NCBI chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044
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 2:80,966,034...80,993,937
Ensembl chr 2:80,905,391...80,993,973
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 OMIM NCBI chr28:32,133,779...32,157,835
Ensembl chr28:32,132,547...32,157,409
JBrowse link
Coffin-Siris syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102
JBrowse link
G ARID1B AT-rich interaction domain 1B ISO DNA:frameshift,nonsense mutations, haploinsufficiency:cds:
ClinVar Annotator: match by term: Coffin-Siris syndrome
ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability
RGD
ClinVar
PMID:18414213, PMID:24033266, PMID:24674232, PMID:25741868 RGD:11526783 NCBI chr 1:46,370,621...46,800,531
Ensembl chr 1:46,372,767...46,799,104
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/Intellectual Disability ClinVar PMID:18414213 NCBI chr 1:90,709,221...90,884,295
Ensembl chr 1:90,712,520...90,883,622
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 ClinVar PMID:18414213, PMID:24728327, PMID:25741868, PMID:26353884, PMID:27701467, PMID:28492532 NCBI chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836
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 ClinVar NCBI chr26:28,692,610...28,728,778
Ensembl chr26:28,692,899...28,728,783
JBrowse link
Coffin-Siris syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:22426308, PMID:25741868 NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102
JBrowse link
G ARID1B AT-rich interaction domain 1B ISO OMIM NCBI chr 1:46,370,621...46,800,531
Ensembl chr 1:46,372,767...46,799,104
JBrowse link
G DPF2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868, PMID:29429572 NCBI chr18:51,833,085...51,847,213
Ensembl chr18:51,833,070...51,847,087
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 1:90,709,221...90,884,295
Ensembl chr 1:90,712,520...90,883,622
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 PMID:25741868 NCBI chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836
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 OMIM NCBI chr35:20,098,783...20,101,357
Ensembl chr35:20,099,773...20,101,154
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 OMIM NCBI chr27:4,624,962...4,640,229
Ensembl chr27:4,626,056...4,637,907
JBrowse link
Coffin-Siris syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1A AT-rich interaction domain 1A ISO OMIM NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102
JBrowse link
Coffin-Siris syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO OMIM NCBI chr26:28,692,610...28,728,778
Ensembl chr26:28,692,899...28,728,783
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 OMIM NCBI chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836
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 ISO OMIM NCBI chr 9:22,015,402...22,036,424
Ensembl chr 9:22,015,600...22,035,442
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 OMIM NCBI chr27:8,411,092...8,579,735
Ensembl chr27:8,412,377...8,579,882
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 OMIM NCBI chr18:51,833,085...51,847,213
Ensembl chr18:51,833,070...51,847,087
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 OMIM NCBI chr10:481,504...502,914
Ensembl chr10:481,817...501,551
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 OMIM NCBI chr 7:58,159,283...58,239,018
Ensembl chr 7:58,102,113...58,193,708
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 OMIM NCBI chr 5:80,864,859...80,912,136
Ensembl chr 5:80,863,661...80,913,019
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 CTD Direct Evidence: marker/mechanism
DNA:point mutation:CDS:p.R453Q (human)
CTD
RGD
PMID:12858176 RGD:1625067 NCBI chr 5:62,548,136...62,577,346
Ensembl chr 5:62,548,221...62,608,964
JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO DNA:insertion,transversion:intron:86557insA, 83597T>G (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12858176, PMID:25526675 RGD:1625067 NCBI chr 7:8,344,380...8,409,901
Ensembl chr 7:8,344,447...8,409,897
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 OMIM NCBI chr 5:62,548,136...62,577,346
Ensembl chr 5:62,548,221...62,608,964
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 OMIM NCBI chr 7:8,344,380...8,409,901
Ensembl chr 7:8,344,447...8,409,897
JBrowse link
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RIPK4 receptor interacting serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Curly hair, ankyloblepharon, nail dysplasia syndrome ClinVar PMID:23610050, PMID:25326635, PMID:25741868, PMID:26129644, PMID:28940926 NCBI chr31:36,168,172...36,196,600
Ensembl chr31:36,169,530...36,196,600
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 OMIM NCBI chr23:38,131,956...38,223,888
Ensembl chr23:38,132,788...38,224,016
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 OMIM NCBI chr 9:21,190,672...21,195,060
Ensembl chr 9:21,156,045...21,265,564
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 OMIM NCBI chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044
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 OMIM NCBI chr  X:54,078,694...54,515,535
Ensembl chr  X:54,078,966...54,515,535
JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:18065779, PMID:18561327, PMID:18704500, PMID:25741868 NCBI chr10:34,873,311...34,943,140
Ensembl chr10:34,848,526...34,940,784
JBrowse link
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic ClinVar PMID:17847007, PMID:19559398, PMID:21484994, PMID:22581971, PMID:23401279, PMID:24033266, PMID:24043634, PMID:24449199, PMID:24700731, PMID:25356970, PMID:25629078, PMID:25741868, PMID:28105635, PMID:28492532 NCBI chr37:25,463,064...25,475,407
Ensembl chr37:25,462,748...25,474,764
JBrowse link
ectodermal dysplasia 10A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDAR ectodysplasin A receptor ISO OMIM NCBI chr10:34,873,311...34,943,140
Ensembl chr10:34,848,526...34,940,784
JBrowse link
G EDARADD EDAR associated death domain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia
CTD
ClinVar
PMID:17354266 NCBI chr 4:3,608,545...3,659,357
Ensembl chr 4:3,610,079...3,669,789
JBrowse link
ectodermal dysplasia 10B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome ClinVar PMID:28492532 NCBI chr10:34,976,341...35,086,080
Ensembl chr10:34,976,670...35,086,297
JBrowse link
G EDAR ectodysplasin A receptor ISO OMIM NCBI chr10:34,873,311...34,943,140
Ensembl chr10:34,848,526...34,940,784
JBrowse link
G EDARADD EDAR associated death domain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
CTD
ClinVar
PMID:9245989, PMID:11780064, PMID:17354266 NCBI chr 4:3,608,545...3,659,357
Ensembl chr 4:3,610,079...3,669,789
JBrowse link
G LOC474539 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome ClinVar PMID:28492532 NCBI chr10:35,088,175...35,181,248
Ensembl chr10:35,088,872...35,181,129
JBrowse link
ectodermal dysplasia 11A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDARADD EDAR associated death domain ISO OMIM NCBI chr 4:3,608,545...3,659,357
Ensembl chr 4:3,610,079...3,669,789
JBrowse link
ectodermal dysplasia 11B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDARADD EDAR associated death domain ISO OMIM NCBI chr 4:3,608,545...3,659,357
Ensembl chr 4:3,610,079...3,669,789
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 OMIM NCBI chr 2:73,198,278...73,206,691
Ensembl chr 2:73,197,580...73,207,153
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 OMIM NCBI chr18:51,263,161...51,264,816
Ensembl chr18:51,263,178...51,264,780
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 chr27:1,315,532...1,323,470
Ensembl chr27:1,273,131...1,323,370
JBrowse link
G KRT85 keratin 85 ISO OMIM NCBI chr27:2,706,246...2,713,688
Ensembl chr27:2,706,246...2,713,688
JBrowse link
ectodermal dysplasia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT74 keratin 74 ISO OMIM NCBI chr27:2,519,244...2,528,107 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 OMIM NCBI chr27:1,315,532...1,323,470
Ensembl chr27:1,273,131...1,323,370
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:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO OMIM NCBI chr  X:122,232,052...122,253,499
Ensembl chr  X:122,235,878...122,250,562
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 chr 6:7,151,352...7,154,509
Ensembl chr 6:7,151,212...7,154,726
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 OMIM NCBI chr18:52,767,151...52,775,053
Ensembl chr18:52,767,414...52,773,369
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:121,866,721...121,876,088
Ensembl chr  X:121,873,218...121,932,994
JBrowse link
familial isolated trichomegaly 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: Long eyelashes ClinVar PMID:30311386 NCBI chr 1:46,370,621...46,800,531
Ensembl chr 1:46,372,767...46,799,104
JBrowse link
G ASXL1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:30311386 NCBI chr24:21,725,126...21,804,745
Ensembl chr24:21,661,059...21,802,815
JBrowse link
G ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:30311386 NCBI chr 5:41,478,211...41,498,593
Ensembl chr 5:41,478,149...41,498,549
JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr 7:25,378,705...25,406,975
Ensembl chr 7:25,378,705...25,406,947
JBrowse link
G DIP2B disco interacting protein 2 homolog B ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:30311386 NCBI chr27:4,006,127...4,227,529
Ensembl chr27:4,009,971...4,227,403
JBrowse link
G FGF5 fibroblast growth factor 5 ISO OMIM NCBI chr32:4,508,810...4,529,449
Ensembl chr32:4,508,217...4,528,915
JBrowse link
G GFER growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:30311386 NCBI chr 6:38,948,927...38,951,300 JBrowse link
G NIPBL NIPBL cohesin loading factor ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:30311386 NCBI chr 4:71,583,118...71,780,986
Ensembl chr 4:71,583,732...71,780,852
JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:30311386 NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277
JBrowse link
G NRXN1 neurexin 1 ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:30311386 NCBI chr10:51,555,660...52,666,774
Ensembl chr10:51,558,452...52,667,569
JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:30311386 NCBI chr  X:14,911,511...14,989,923
Ensembl chr  X:14,896,206...14,989,283
JBrowse link
G RPS29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:24829207, PMID:30311386 NCBI chr 8:26,221,546...26,223,580 JBrowse link
G SEPTIN9 septin 9 ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:30311386 NCBI chr 9:3,495,764...3,571,755
Ensembl chr 9:3,448,793...3,616,732
JBrowse link
G TUSC3 tumor suppressor candidate 3 ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:23806237, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr16:38,798,764...39,086,508
Ensembl chr16:38,862,591...39,084,458
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 chr34:18,269,510...18,316,664
Ensembl chr34:18,270,070...18,316,066
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 OMIM NCBI chr18:44,922,042...44,967,557
Ensembl chr18:44,922,150...44,967,550
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 OMIM NCBI chr 9:15,708,070...15,781,100
Ensembl chr 9:15,420,835...15,783,045
JBrowse link
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR1 ANTXR cell adhesion molecule 1 ISO OMIM NCBI chr10:67,829,573...68,021,368
Ensembl chr10:67,829,225...68,019,127
JBrowse link
Hairy Elbows term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hypertrichosis cubiti ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr 7:25,378,705...25,406,975
Ensembl chr 7:25,378,705...25,406,947
JBrowse link
Hirsutism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Hirsutism ClinVar PMID:25741868, PMID:30311386 NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396
JBrowse link
G HDAC8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Hirsutism ClinVar PMID:30311386 NCBI chr  X:56,357,205...56,574,443
Ensembl chr  X:56,357,177...56,574,401
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1324751 NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440
JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Hirsutism ClinVar PMID:25741868 NCBI chr  X:15,991,623...16,079,689
Ensembl chr  X:15,998,172...16,074,749
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 1:46,370,621...46,800,531
Ensembl chr 1:46,372,767...46,799,104
JBrowse link
G ASXL1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Hypertrichosis ClinVar PMID:21706002, PMID:25741868, PMID:30311386 NCBI chr24:21,725,126...21,804,745
Ensembl chr24:21,661,059...21,802,815
JBrowse link
G FLG filaggrin ISO ClinVar Annotator: match by term: Hypertrichosis ClinVar PMID:30311386 NCBI chr17:61,217,915...61,233,068 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, PMID:11153910, PMID:14984474, PMID:25741868, PMID:26907177, PMID:28492532, PMID:30809705 NCBI chr 9:20,407,296...20,414,094
Ensembl chr 9:20,407,281...20,414,056
JBrowse link
G NR2F1 nuclear receptor subfamily 2 group F member 1 ISO ClinVar Annotator: match by term: Hypertrichosis ClinVar PMID:30311386 NCBI chr 3:15,707,198...15,716,875
Ensembl chr 3:15,707,640...15,716,875
JBrowse link
G SLC29A3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19336477, PMID:20140240 NCBI chr 4:22,094,899...22,135,066
Ensembl chr 4:22,097,764...22,133,197
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 OMIM NCBI chr27:25,199,580...25,352,637
Ensembl chr27:25,200,418...25,388,477
JBrowse link
G KCNJ8 potassium inwardly rectifying channel subfamily J member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28842488 NCBI chr27:25,368,565...25,375,754
Ensembl chr27:25,368,810...25,375,009
JBrowse link
hypohidrotic ectodermal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDA ectodysplasin A ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia RGD
ClinVar
PMID:8696334, PMID:9507389, PMID:9630076, PMID:9683615, PMID:9736768, PMID:9856856, PMID:10951256, PMID:11279189, PMID:11295832, PMID:11309369, PMID:11378824, PMID:11416205, PMID:12949972, PMID:14656435, PMID:15461765, PMID:15663448, PMID:17066260, PMID:17970812, PMID:18076698, PMID:18231121, PMID:18384562, PMID:18386312, PMID:18427821, PMID:18451855, PMID:18510547, PMID:18545687, PMID:18657636, PMID:18666859, PMID:18821982, PMID:19278982, PMID:19533796, PMID:19592680, PMID:19623212, PMID:19921643, PMID:20236127, PMID:20374512, PMID:20486090, PMID:20979233, PMID:21357618, PMID:21457804, PMID:22032522, PMID:22350046, PMID:22382802, PMID:22428923, PMID:22875504, PMID:23293949, PMID:23553579, PMID:23744313, PMID:23926003, PMID:23989902, PMID:23991204, PMID:24033266, PMID:24279917, PMID:24312213, PMID:24487376, PMID:24648697, PMID:24664614, PMID:24689965, PMID:24724966, PMID:25333067, PMID:25626993, PMID:25741868, PMID:26273176, PMID:26325558, PMID:26345974, PMID:26634545, PMID:26753551, PMID:27054699, PMID:27144394, PMID:27305980, PMID:27657131, PMID:28045201, PMID:28492532, PMID:31028034 RGD:14398763 NCBI chr  X:54,078,694...54,515,535
Ensembl chr  X:54,078,966...54,515,535
JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:18065779, PMID:18561327, PMID:18704500, PMID:24033266, PMID:25741868, PMID:28492532, PMID:28808699 NCBI chr10:34,873,311...34,943,140
Ensembl chr10:34,848,526...34,940,784
JBrowse link
G EDARADD EDAR associated death domain ISO DNA:missense mutation:exon:p.Pro153Ser(rat)
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
RGD
ClinVar
PMID:20222921, PMID:20979233, PMID:21626677, PMID:22013926, PMID:25741868, PMID:28492532 RGD:14398762 NCBI chr 4:3,608,545...3,659,357
Ensembl chr 4:3,610,079...3,669,789
JBrowse link
G LOC474539 E3 SUMO-protein ligase RanBP2 ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chr10:35,088,175...35,181,248
Ensembl chr10:35,088,872...35,181,129
JBrowse link
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:17847007, PMID:19559398, PMID:21484994, PMID:22581971, PMID:23401279, PMID:24033266, PMID:24043634, PMID:24449199, PMID:24700731, PMID:25356970, PMID:25629078, PMID:25741868, PMID:28105635, PMID:28492532 NCBI chr37:25,463,064...25,475,407
Ensembl chr37:25,462,748...25,474,764
JBrowse link
hypotrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSG4 desmoglein 4 ISO DNA:missense mutation
DNA:deletion
RGD PMID:15081105, PMID:15191570 RGD:1302434, RGD:1599796 NCBI chr 7:58,101,294...58,135,376 JBrowse link
G KRT71 keratin 71 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr27:2,536,831...2,545,103 JBrowse link
G KRT74 keratin 74 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr27:2,519,244...2,528,107 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:18445047, PMID:18830268, PMID:19365138, PMID:19892526, PMID:20213768, PMID:21352330, PMID:21426374, PMID:22449147, PMID:23066499, PMID:23590372, PMID:24033266, PMID:24722066, PMID:25201209, PMID:25271093, PMID:25741868, PMID:25899282 NCBI chr34:18,269,510...18,316,664
Ensembl chr34:18,270,070...18,316,066
JBrowse link
G LPAR6 lysophosphatidic acid receptor 6 ISO OMIM NCBI chr22:3,110,797...3,112,973
Ensembl chr22:3,111,462...3,112,499
JBrowse link
G RPL21 ribosomal protein L21 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr25:12,326,376...12,331,398
Ensembl chr25:12,326,376...12,331,398
JBrowse link
G SGK3 serum/glucocorticoid regulated kinase family, member 3 IEA Hypotrichosis, recessive OMIA PMID:3367039, PMID:27994129 NCBI chr29:16,236,197...16,418,225
Ensembl chr29:16,274,352...16,415,598
JBrowse link
G SNRPE small nuclear ribonucleoprotein polypeptide E ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr38:515,808...521,536 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 OMIM NCBI chr 7:76,336,502...76,368,695
Ensembl chr 7:76,336,547...76,367,267
JBrowse link
G LIPH lipase H ISO ClinVar Annotator: match by term: Hereditary hypotrichosis simplex ClinVar PMID:18830268, PMID:19892526, PMID:20213768, PMID:21352330, PMID:22449147, PMID:23590372, PMID:24033266, PMID:24722066, PMID:25201209, PMID:25271093, PMID:25741868, PMID:25899282 NCBI chr34:18,269,510...18,316,664
Ensembl chr34:18,270,070...18,316,066
JBrowse link
G LPAR6 lysophosphatidic acid receptor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18297070 NCBI chr22:3,110,797...3,112,973
Ensembl chr22:3,111,462...3,112,499
JBrowse link
G SNRPE small nuclear ribonucleoprotein polypeptide E ISO DNA:snp:cds:c.1A>G (human) RGD PMID:23246290 RGD:10768831 NCBI chr38:515,808...521,536 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 OMIM NCBI chr38:515,808...521,536 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 OMIM NCBI chr25:12,326,376...12,331,398
Ensembl chr25:12,326,376...12,331,398
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 OMIM NCBI chr27:2,536,831...2,545,103 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 OMIM NCBI chr31:39,479,255...39,502,439
Ensembl chr31:39,480,581...39,503,042
JBrowse link
hypotrichosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDSN corneodesmosin ISO OMIM NCBI chr12:819,488...824,015
Ensembl chr12:820,467...823,986
JBrowse link
hypotrichosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT74 keratin 74 ISO OMIM NCBI chr27:2,519,244...2,528,107 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 OMIM NCBI chr25:35,120,566...35,136,560
Ensembl chr25:35,119,784...35,135,545
JBrowse link
hypotrichosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPS8L3 EPS8 like 3 ISO OMIM NCBI chr 6:42,163,609...42,176,671
Ensembl chr 6:42,167,049...42,176,797
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 OMIM NCBI chr 7:58,101,294...58,135,376 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 OMIM NCBI chr34:18,269,510...18,316,664
Ensembl chr34:18,270,070...18,316,066
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 chr 9:21,940,413...21,947,487
Ensembl chr 9:21,940,413...21,947,487
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
ClinVar PMID:18297070, PMID:18297072, PMID:18461368, PMID:21070332, PMID:21426374, PMID:25119526 NCBI chr22:3,110,797...3,112,973
Ensembl chr22:3,111,462...3,112,499
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:21070332, PMID:21426374, PMID:25119526 NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726
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 OMIM NCBI chr 7:58,412,769...58,457,593 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 OMIM NCBI chr24:47,494,581...47,496,563
Ensembl chr24:47,494,902...47,496,970
JBrowse link
G TCEA2 transcription elongation factor A2 ISO ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia syndrome ClinVar PMID:11701398, PMID:12740761, PMID:24697860, PMID:26148450 NCBI chr24:47,508,161...47,512,399
Ensembl chr24:47,508,136...47,537,250
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 OMIM NCBI chr24:47,494,581...47,496,563
Ensembl chr24:47,494,902...47,496,970
JBrowse link
G TCEA2 transcription elongation factor A2 ISO ClinVar Annotator: match by term: Glomerulonephritis with sparse hair and telangiectases ClinVar PMID:2484451, PMID:12740761, PMID:24697860, PMID:25741868, PMID:29307792 NCBI chr24:47,508,161...47,512,399
Ensembl chr24:47,508,136...47,537,250
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 OMIM NCBI chr 5:41,663,809...41,686,764
Ensembl chr 5:41,663,773...41,686,776
JBrowse link
ichthyosis follicularis-alopecia-photophobia syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome ClinVar PMID:25741868 NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 ISO OMIM NCBI chr  X:17,655,295...17,718,960
Ensembl chr  X:17,655,363...17,710,288
JBrowse link
Loucks-Innes Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPH1 diphthamide biosynthesis 1 ISO OMIM NCBI chr 9:46,137,573...46,147,829
Ensembl chr 9:46,137,660...46,147,854
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 OMIM NCBI chr24:3,345,221...3,563,716
Ensembl chr24:3,343,087...3,563,772
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 OMIM NCBI chr15:45,823,472...45,878,527
Ensembl chr15:45,823,560...45,876,463
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 IEA
ISO
Menkes disease
DNA:duplication:exon:
OMIA
RGD
OMIM
PMID:8661696, PMID:22074552, PMID:26747866, PMID:26861285 RGD:12879459 NCBI chr  X:60,203,336...60,356,525
Ensembl chr  X:60,203,270...60,352,869
JBrowse link
G CP ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22243965 NCBI chr23:43,969,297...44,033,226
Ensembl chr23:43,969,435...44,030,369
JBrowse link
G LOX lysyl oxidase ISO RGD PMID:8638917 RGD:1581895 NCBI chr11:12,023,645...12,040,015
Ensembl chr11:12,027,250...12,039,819
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 OMIM NCBI chr18:46,959,743...47,007,521
Ensembl chr18:46,959,743...47,007,460
JBrowse link
monilethrix term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT83 keratin 83 ISO OMIM NCBI chr27:2,746,175...2,752,472 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 OMIM NCBI chr 9:21,028,773...21,053,071
Ensembl chr 9:21,028,828...21,053,071
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 1:46,370,621...46,800,531
Ensembl chr 1:46,372,767...46,799,104
JBrowse link
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr  X:14,512,226...14,725,348
Ensembl chr  X:14,512,178...14,725,233
JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome ClinVar PMID:25741868 NCBI chr  X:14,727,016...14,749,674
Ensembl chr  X:14,727,062...14,749,492
JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO OMIM NCBI chr 1:90,709,221...90,884,295
Ensembl chr 1:90,712,520...90,883,622
JBrowse link
Nisch syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN1 claudin 1 ISO OMIM NCBI chr34:22,303,058...22,319,101
Ensembl chr34:22,303,850...22,319,033
JBrowse link
G CLDN16 claudin 16 ISO ClinVar Annotator: match by term: Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis ClinVar PMID:12164927, PMID:15521008, PMID:16619213 NCBI chr34:22,392,108...22,414,250
Ensembl chr34:22,317,474...22,412,665
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, PMID:21784453, PMID:22253195, PMID:22419608, PMID:22528146, PMID:22606262, PMID:22995099, PMID:23756559, PMID:23786871, PMID:23885229, PMID:23918763, PMID:24033266, PMID:24458587, PMID:24458596, PMID:25123707, PMID:25137548, PMID:25326635, PMID:25326637, PMID:25331583, PMID:25563136, PMID:25741868, PMID:25846317, PMID:28492532, PMID:30311386, PMID:30348783 NCBI chr28:22,241,886...22,338,418
Ensembl chr28:22,285,125...22,336,545
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 OMIM NCBI chr28:22,241,886...22,338,418
Ensembl chr28:22,285,125...22,336,545
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 OMIM NCBI chr17:22,680,691...22,699,999
Ensembl chr17:22,679,783...22,699,999
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 OMIM NCBI chr20:52,327,547...52,349,006
Ensembl chr20:52,318,408...52,348,963
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 OMIM NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
JBrowse link
PALMOPLANTAR KERATODERMA AND WOOLLY HAIR term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KANK2 KN motif and ankyrin repeat domains 2 ISO OMIM NCBI chr20:50,067,749...50,093,377
Ensembl chr20:50,067,760...50,091,320
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 OMIM NCBI chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125
JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein ISO ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive ClinVar NCBI chr18:9,766,369...9,768,831
Ensembl chr18:9,765,972...9,768,833
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 developmental delay neurological abnormalities ClinVar PMID:31125343 NCBI chr21:6,720,472...6,813,946
Ensembl chr21:6,716,562...6,814,486
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, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15086549 NCBI chr27:2,635,210...2,645,687
Ensembl chr27:2,591,216...2,661,569
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 OMIM NCBI chr37:25,463,064...25,475,407
Ensembl chr37:25,462,748...25,474,764
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 OMIM NCBI chr20:37,592,080...37,659,783
Ensembl chr20:37,544,186...37,681,725
JBrowse link
Skin Fragility-Woolly Hair Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSP desmoplakin ISO OMIM NCBI chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044
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 OMIM NCBI chr11:55,286,290...55,310,904
Ensembl chr11:55,243,854...55,350,194
JBrowse link
G TRIM14 tripartite motif containing 14 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia Genevieve type ClinVar PMID:15726110, PMID:27213289 NCBI chr11:55,313,700...55,343,217
Ensembl chr11:55,316,111...55,343,287
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 OMIM NCBI chr 9:42,734,228...42,749,856
Ensembl chr 9:42,735,656...42,748,632
JBrowse link
trichodontoosseous syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLX3 distal-less homeobox 3 ISO OMIM NCBI chr 9:26,018,101...26,022,964
Ensembl chr 9:26,017,689...26,022,736
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 chr12:1,406,411...1,412,387
Ensembl chr12:1,406,271...1,412,324
JBrowse link
G SKIV2L Ski2 like RNA helicase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Trichohepatoenteric syndrome
CTD
ClinVar
NCBI chr12:1,412,407...1,424,521
Ensembl chr12:1,412,540...1,424,526
JBrowse link
G TTC37 tetratricopeptide repeat domain 37 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Trichohepatoenteric syndrome
CTD
ClinVar
PMID:24033266 NCBI chr 3:14,027,735...14,108,224
Ensembl chr 3:14,034,925...14,103,888
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:24088041, PMID:25326635, PMID:25741868, PMID:26633545 NCBI chr16:7,561,084...7,637,017
Ensembl chr16:7,561,305...7,637,015
JBrowse link
G TTC37 tetratricopeptide repeat domain 37 ISO OMIM NCBI chr 3:14,027,735...14,108,224
Ensembl chr 3:14,034,925...14,103,888
JBrowse link
trichohepatoenteric syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SKIV2L Ski2 like RNA helicase ISO OMIM NCBI chr12:1,412,407...1,424,521
Ensembl chr12:1,412,540...1,424,526
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 OMIM NCBI chr 9:11,715,793...11,737,055
Ensembl chr 9:11,717,163...11,736,890
JBrowse link
trichorhinophalangeal syndrome type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADL acyl-CoA dehydrogenase long chain ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr37:18,028,244...18,073,975
Ensembl chr37:18,017,087...18,073,862
JBrowse link
G ANXA13 annexin A13 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:21,960,439...22,010,660
Ensembl chr13:21,960,439...22,010,604
JBrowse link
G ATAD2 ATPase family AAA domain containing 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:21,667,214...21,733,028
Ensembl chr13:21,667,221...21,732,939
JBrowse link
G C13H8orf76 chromosome 13 C8orf76 homolog ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:21,599,283...21,619,386
Ensembl chr13:21,599,501...21,644,897
JBrowse link
G CCN3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:18,507,586...18,515,755
Ensembl chr13:18,507,580...18,514,619
JBrowse link
G COL14A1 collagen type XIV alpha 1 chain ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:19,033,423...19,249,189
Ensembl chr13:19,011,897...19,248,568
JBrowse link
G COLEC10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:18,291,168...18,331,918
Ensembl chr13:18,291,051...18,330,617
JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr37:18,308,164...18,428,487
Ensembl chr37:18,143,986...18,427,697
JBrowse link
G DEPTOR DEP domain containing MTOR interacting protein ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:18,859,526...18,993,464
Ensembl chr13:18,859,634...18,988,583
JBrowse link
G DERL1 derlin 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:21,423,501...21,452,594
Ensembl chr13:21,419,352...21,482,133
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 chr13:18,825,522...18,841,905
Ensembl chr13:18,825,844...18,841,873
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 chr13:16,105,960...16,201,902
Ensembl chr13:16,105,990...16,341,153
JBrowse link
G ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:18,586,886...18,697,339
Ensembl chr13:18,587,129...18,697,324
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426
JBrowse link
G EXT1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:17,172,497...17,457,084
Ensembl chr13:17,172,705...17,456,469
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 chr13:21,566,083...21,590,291
Ensembl chr13:21,566,059...21,589,976
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 chr13:22,036,518...22,082,278
Ensembl chr13:22,036,776...22,076,751
JBrowse link
G FBXO32 F-box protein 32 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:21,804,442...21,838,157
Ensembl chr13:21,809,292...21,838,169
JBrowse link
G FER1L6 fer-1 like family member 6 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:22,172,348...22,291,427
Ensembl chr13:22,137,080...22,290,989
JBrowse link
G HAS2 hyaluronan synthase 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:20,310,946...20,342,647
Ensembl chr13:20,309,872...20,341,636
JBrowse link
G IKZF2 IKAROS family zinc finger 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr37:20,508,647...20,662,549
Ensembl chr37:20,516,239...20,661,298
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 chr37:17,883,992...18,013,389
Ensembl chr37:17,885,457...18,013,634
JBrowse link
G KLHL38 kelch like family member 38 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:21,928,527...21,937,245
Ensembl chr13:21,929,309...21,936,591
JBrowse link
G LANCL1 LanC like 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr37:18,209,162...18,246,100
Ensembl chr37:18,212,137...18,246,354
JBrowse link
G LRATD2 LRAT domain containing 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:24,213,085...24,217,588 JBrowse link
G MAL2 mal, T cell differentiation protein 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:18,404,979...18,422,076
Ensembl chr13:18,406,633...18,420,469
JBrowse link
G MAP2 microtubule associated protein 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr37:17,316,899...17,611,360
Ensembl chr37:17,466,678...17,607,803
JBrowse link
G MED30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:16,928,166...16,949,503
Ensembl chr13:16,928,161...16,949,295
JBrowse link
G MRPL13 mitochondrial ribosomal protein L13 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:19,266,373...19,313,754
Ensembl chr13:19,266,531...19,313,657
JBrowse link
G MTBP MDM2 binding protein ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:19,313,884...19,385,370
Ensembl chr13:19,313,973...19,384,621
JBrowse link
G MTSS1 MTSS I-BAR domain containing 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:22,633,001...22,794,960
Ensembl chr13:22,635,230...22,794,453
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309
JBrowse link
G MYL1 myosin light chain 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr37:18,143,644...18,168,208
Ensembl chr37:18,143,673...18,168,187
JBrowse link
G NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:22,624,929...22,632,310
Ensembl chr13:22,624,945...22,632,310
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 chr13:23,078,143...23,288,302
Ensembl chr13:23,078,173...23,288,304
JBrowse link
G NTAQ1 N-terminal glutamine amidase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:21,703,966...21,930,419
Ensembl chr13:21,679,326...22,017,988
JBrowse link
G RAD21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:16,337,563...16,368,041
Ensembl chr13:16,338,972...16,368,035
JBrowse link
G RNF139 ring finger protein 139 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:22,560,180...22,572,986
Ensembl chr13:22,543,543...22,572,308
JBrowse link
G RPE ribulose-5-phosphate-3-epimerase ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr37:17,866,729...17,882,702 JBrowse link
G SAMD12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:17,525,855...17,897,153
Ensembl chr13:17,528,421...17,897,009
JBrowse link
G SLC30A8 solute carrier family 30 member 8 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:16,602,255...16,637,299
Ensembl chr13:16,601,912...16,635,880
JBrowse link
G SNTB1 syntrophin beta 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:19,394,608...19,627,278
Ensembl chr13:19,397,509...19,627,403
JBrowse link
G SPAG16 sperm associated antigen 16 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr37:20,782,855...21,690,523
Ensembl chr37:20,782,867...21,690,333
JBrowse link
G SQLE squalene epoxidase ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:22,994,010...23,018,134
Ensembl chr13:22,993,862...23,017,978
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 chr13:18,724,408...18,824,025
Ensembl chr13:18,729,234...18,823,979
JBrowse link
G TATDN1 TatD DNase domain containing 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:22,561,003...22,624,891
Ensembl chr13:22,573,150...22,624,987
JBrowse link
G TBC1D31 TBC1 domain family member 31 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:21,475,094...21,543,380
Ensembl chr13:21,473,751...21,543,380
JBrowse link
G TMEM65 transmembrane protein 65 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:22,426,487...22,494,520
Ensembl chr13:22,426,793...22,494,520
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:18,155,765...18,183,263
Ensembl chr13:18,156,367...18,183,444
JBrowse link
G TRIB1 tribbles pseudokinase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:23,337,788...23,346,304
Ensembl chr13:23,337,788...23,346,304
JBrowse link
G TRMT12 tRNA methyltransferase 12 homolog ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:22,494,866...22,570,622
Ensembl chr13:22,543,543...22,572,308
JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 ISO OMIM NCBI chr13:15,017,180...15,273,177
Ensembl chr13:15,022,652...15,273,666
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 chr37:17,648,432...17,864,915
Ensembl chr37:17,649,104...17,861,277
JBrowse link
G UTP23 UTP23 small subunit processome component ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:16,213,131...16,219,726
Ensembl chr13:16,213,159...16,339,964
JBrowse link
G WASHC5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:23,019,422...23,078,073
Ensembl chr13:23,019,636...23,078,280
JBrowse link
G ZHX1 zinc fingers and homeoboxes 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:21,627,904...21,634,864 JBrowse link
G ZHX2 zinc fingers and homeoboxes 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:21,231,985...21,393,756
Ensembl chr13:21,377,316...21,379,832
JBrowse link
G ZNF572 zinc finger protein 572 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr13:22,979,802...22,984,344
Ensembl chr13:22,979,046...22,984,271
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 OMIM NCBI chr13:15,017,180...15,273,177
Ensembl chr13:15,022,652...15,273,666
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 OMIM NCBI chr 2:80,966,034...80,993,937
Ensembl chr 2:80,905,391...80,993,973
JBrowse link
G TCHH trichohyalin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:61,095,132...61,102,663 JBrowse link
G TGM3 transglutaminase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr24:18,753,638...18,793,780
Ensembl chr24:18,753,651...18,958,221
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 OMIM NCBI chr24:18,753,638...18,793,780
Ensembl chr24:18,753,651...18,958,221
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 OMIM NCBI chr17:61,095,132...61,102,663 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 OMIM NCBI chr36:15,906,013...15,961,318
Ensembl chr36:15,905,085...15,938,910
JBrowse link
G METTL8 methyltransferase like 8 ISO ClinVar Annotator: match by term: Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome
ClinVar Annotator: match by term: Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
ClinVar PMID:17710875, PMID:19026396, PMID:26612766, PMID:28492532 NCBI chr36:15,816,518...15,906,019
Ensembl chr36:15,819,138...15,905,064
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12678
    disease of anatomical entity 12216
      integumentary system disease 2520
        hair disease 251
          Bamforth-Lazarus syndrome 2
          Bird Headed Dwarfism Montreal Type 0
          Bjornstad syndrome 1
          Brachycephaly, Trichomegaly, and Developmental Delay 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 + 9
          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 + 3
          Naxos disease + 2
          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
          Skin Fragility-Woolly Hair Syndrome 1
          Tricho-Dento-Osseous Syndrome 1 0
          Trichodysplasia-Xeroderma 0
          Trichohepatoneurodevelopmental Syndrome 1
          Trichostasis Spinulosa 0
          Uncombable Hair Syndrome + 3
          White Forelock with Malformations 0
          familial isolated trichomegaly 14
          familial woolly hair syndrome + 7
          folliculitis + 1
          hypertrichosis + 25
          hypotrichosis + 121
          monilethrix + 1
          photosensitive trichothiodystrophy 1 2
          pure hair and nail ectodermal dysplasia + 3
          superficial mycosis + 0
          tinea capitis + 0
          trichodontoosseous syndrome 1
          trichohepatoenteric syndrome + 4
          trichorhinophalangeal syndrome type I 58
          trichorhinophalangeal syndrome type III 1
Path 2
Term Annotations click to browse term
  disease 12678
    disease of anatomical entity 12216
      nervous system disease 9976
        sensory system disease 4814
          skin disease 2520
            hair disease 251
              Bamforth-Lazarus syndrome 2
              Bird Headed Dwarfism Montreal Type 0
              Bjornstad syndrome 1
              Brachycephaly, Trichomegaly, and Developmental Delay 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 + 9
              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 + 3
              Naxos disease + 2
              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
              Skin Fragility-Woolly Hair Syndrome 1
              Tricho-Dento-Osseous Syndrome 1 0
              Trichodysplasia-Xeroderma 0
              Trichohepatoneurodevelopmental Syndrome 1
              Trichostasis Spinulosa 0
              Uncombable Hair Syndrome + 3
              White Forelock with Malformations 0
              familial isolated trichomegaly 14
              familial woolly hair syndrome + 7
              folliculitis + 1
              hypertrichosis + 25
              hypotrichosis + 121
              monilethrix + 1
              photosensitive trichothiodystrophy 1 2
              pure hair and nail ectodermal dysplasia + 3
              superficial mycosis + 0
              tinea capitis + 0
              trichodontoosseous syndrome 1
              trichohepatoenteric syndrome + 4
              trichorhinophalangeal syndrome type I 58
              trichorhinophalangeal syndrome type III 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.