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: hypotrichosis
Accession: DOID:4535
browse the term
Definition: A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis_in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles. (DO)
Synonyms: exact_synonym: AH; HYPOTRICHOSIS WITH WOOLLY HAIR; Hypotrichoses
narrow_synonym: ARWH2; LOCALIZED AR HYPOTRICHOSIS; WH/HT; hypotrichosis, autosomal recessive; hypotrichosis, recessive
related_synonym: Woolly Hair, Autosomal Recessive 2, With Or Without Hypotrichosis
primary_id: MESH:D007039
alt_id: OMIA:001279
xref: NCI:C34720 ; OMIM:PS605389
For additional species annotation, visit the
Alliance of Genome Resources .
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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
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Dsg4hr
desmoglein 4; hairless mutant
IMP
RGD
PMID:15606503
RGD:150521560
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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
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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 PMID:19536142 PMID:19766349 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 PMID:28492532 More...
NCBI chr11:79,032,229...79,081,625
Ensembl chr11:79,033,312...79,081,625
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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
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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
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Sgk3
serum/glucocorticoid regulated kinase family, member 3
ISO
Hypotrichosis, recessive
OMIA
PMID:3367039 PMID:17083571 PMID:27994129 PMID:30927068 PMID:31727632 PMID:37191329 PMID:37582787 More...
NCBI chr 5:9,345,761...9,472,243
Ensembl chr 5:9,346,040...9,415,476
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Krt71Rex
keratin 71; autosomal dominant Rex
IAGP
DNA:deletion:cds:intron 1, p.Val149_Gln154 del
RGD
PMID:20179389
RGD:11570415
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Mlph
melanophilin
ISO
Coat colour, dilution, MLPH-related
OMIA
PMID:591423 PMID:5019544 PMID:7725619 PMID:8257319 PMID:8533225 PMID:8735542 PMID:9789677 PMID:11887392 PMID:12358609 PMID:15016299 PMID:15958794 PMID:15960853 PMID:16131833 PMID:16674733 PMID:17519392 PMID:19436637 PMID:19521467 PMID:29349785 PMID:32531980 PMID:34088257 PMID:34751460 PMID:35510419 PMID:36427679 PMID:37582787 More...
NCBI chr 9:91,507,410...91,542,984
Ensembl chr 9:91,507,591...91,542,983
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:11641275 PMID:11966690 PMID:12406339 PMID:17609203 PMID:20087431 PMID:20512917 PMID:21747609 PMID:21919222 PMID:22584530 PMID:23548463 PMID:24033266 PMID:25741868 PMID:26680117 PMID:28492532 More...
NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313
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Hrurf
HR upstream open reading frame
ISO
ClinVar Annotator: match by term: Alopecia universalis congenita
ClinVar
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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
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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
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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
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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 PMID:31288248 More...
NCBI chr11:78,121,388...78,127,998
Ensembl chr11:78,117,918...78,145,999
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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
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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 PMID:30723320 PMID:33155697 PMID:35803560 More...
NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
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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 PMID:9880231 PMID:9892925 PMID:10205263 PMID:10469319 PMID:11410842 PMID:11966690 PMID:12271294 PMID:17609203 PMID:17869066 PMID:18164595 PMID:20087431 PMID:20512917 PMID:21747609 PMID:21919222 PMID:22584530 PMID:23548463 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313
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Hrurf
HR upstream open reading frame
ISO
ClinVar Annotator: match by term: Atrichia with papular lesions
ClinVar
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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
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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 PMID:25741868 PMID:28492532 PMID:29611532 More...
NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
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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
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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
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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
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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
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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 PMID:21482952 PMID:22900900 PMID:23963851 PMID:24500651 PMID:24535794 PMID:25506911 PMID:25741868 PMID:25770224 PMID:25772074 PMID:25957642 PMID:26063658 PMID:26467025 PMID:27164673 PMID:27353043 PMID:28492532 PMID:28782182 PMID:29561953 PMID:29895533 PMID:30859180 PMID:31316458 PMID:32101834 PMID:32581362 PMID:33268848 PMID:34220097 PMID:36047879 PMID:36253578 PMID:36261288 PMID:36380532 More...
NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
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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
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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
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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 PMID:16199547 PMID:17342797 PMID:25741868 PMID:27386845 PMID:28041643 PMID:28492532 PMID:29620724 PMID:30710256 PMID:31696509 PMID:32581362 PMID:34301208 More...
NCBI chr19:34,393,596...34,444,084
Ensembl chr19:34,393,727...34,444,084
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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 PMID:22341969 PMID:24033266 PMID:25741868 PMID:26845104 PMID:28492532 PMID:28518168 PMID:30262796 PMID:30995915 PMID:32461654 PMID:32522261 PMID:32606146 PMID:33057211 PMID:34008015 More...
NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136
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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 PMID:20301543 PMID:25741868 PMID:26743602 PMID:28492532 More...
NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799
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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 PMID:28492532 PMID:29362492 PMID:29410513 PMID:29565416 PMID:30877278 PMID:32595695 PMID:32732226 More...
NCBI chr10:60,028,081...60,039,764
Ensembl chr10:60,026,048...60,039,850
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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
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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 PMID:33001864 More...
NCBI chr10:60,028,081...60,039,764
Ensembl chr10:60,026,048...60,039,850
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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
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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 PMID:9736768 PMID:9856856 PMID:10469321 PMID:10951256 PMID:11279189 PMID:11295832 PMID:11309369 PMID:11378824 PMID:11416205 PMID:12930312 PMID:12947561 PMID:12949972 PMID:14656435 PMID:15461765 PMID:15663448 PMID:16199547 PMID:17066260 PMID:17576681 PMID:17970812 PMID:18076698 PMID:18231121 PMID:18384562 PMID:18386312 PMID:18386315 PMID:18427821 PMID:18451855 PMID:18510547 PMID:18545687 PMID:18657636 PMID:18666859 PMID:18688569 PMID:18821982 PMID:19278982 PMID:19438931 PMID:19504606 PMID:19533796 PMID:19592680 PMID:19623212 PMID:19921643 PMID:19960895 PMID:20077893 PMID:20236127 PMID:20374512 PMID:20486090 PMID:20979233 PMID:21357618 PMID:21457804 PMID:22032522 PMID:22382802 PMID:22428923 PMID:22633615 PMID:22875504 PMID:23293949 PMID:23553579 PMID:23687000 PMID:23744313 PMID:23926003 PMID:23989902 PMID:23991204 PMID:24033266 PMID:24279917 PMID:24312213 PMID:24330993 PMID:24487376 PMID:24631698 PMID:24648697 PMID:24689965 PMID:24715423 PMID:24724966 PMID:25333067 PMID:25626993 PMID:25640679 PMID:25741868 PMID:25846883 PMID:26273176 PMID:26345974 PMID:26411740 PMID:26634545 PMID:26753551 PMID:27054699 PMID:27144394 PMID:27264909 PMID:27305980 PMID:27538153 PMID:27657131 PMID:28045201 PMID:28492532 PMID:29444360 PMID:29676859 PMID:30088137 PMID:30117778 PMID:31129666 PMID:31306530 PMID:31489414 PMID:31652981 PMID:31796081 PMID:31852928 PMID:31924237 PMID:33205897 PMID:33502802 PMID:33943035 PMID:34573371 PMID:34863015 PMID:34906502 PMID:35023123 PMID:36071541 PMID:36294409 PMID:202361270 PMID:8696334 More...
RGD:1598881
NCBI chr X:65,078,454...65,480,172
Ensembl chr X:65,078,673...65,480,172
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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
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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
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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 PMID:28981473 More...
NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
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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 PMID:15013427 PMID:16029325 PMID:16199547 PMID:16435307 PMID:17125505 PMID:17576681 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18854857 PMID:19438931 PMID:20236127 PMID:20979233 PMID:21771270 PMID:21876339 PMID:22032522 PMID:23401279 PMID:23991204 PMID:24033266 PMID:24641098 PMID:24884697 PMID:25741868 PMID:26336973 PMID:27305980 PMID:27657131 PMID:28265457 PMID:28492532 PMID:28981473 PMID:32274043 PMID:32325225 PMID:33205897 PMID:10431241 More...
RGD:1598883
NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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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
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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 PMID:28981473 More...
NCBI chr20:26,247,394...26,293,613
Ensembl chr20:26,247,404...26,293,613
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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 PMID:28981473 More...
NCBI chr20:26,309,833...26,418,511
Ensembl chr20:26,309,895...26,418,500
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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 PMID:15013427 PMID:16029325 PMID:16199547 PMID:16435307 PMID:17125505 PMID:17576681 PMID:18065779 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18854857 PMID:19438931 PMID:20236127 PMID:20979233 PMID:21771270 PMID:21876339 PMID:22032522 PMID:23401279 PMID:23991204 PMID:24033266 PMID:24641098 PMID:24884697 PMID:25741868 PMID:26336973 PMID:27305980 PMID:27657131 PMID:28265457 PMID:28492532 PMID:28981473 PMID:32274043 PMID:32325225 PMID:33205897 More...
NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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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 PMID:28981473 More...
NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258
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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 PMID:28981473 More...
NCBI chr 9:6,873,697...6,904,736
Ensembl chr 9:6,874,249...6,904,734
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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 PMID:28981473 More...
NCBI chr 9:7,221,580...7,266,991
Ensembl chr 9:7,221,578...7,267,030
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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
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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 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18816645 PMID:20236127 PMID:20979233 PMID:22032522 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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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
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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 PMID:18231121 PMID:18561327 PMID:18704500 PMID:18816645 PMID:20236127 PMID:20979233 PMID:22032522 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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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 PMID:25640679 PMID:25741868 PMID:26440664 PMID:28492532 PMID:33502802 PMID:34219261 PMID:34573371 More...
NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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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 PMID:20979233 PMID:23401279 PMID:25741868 PMID:27657131 PMID:28492532 More...
NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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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 PMID:26440664 PMID:26991760 PMID:28492532 PMID:34219261 More...
NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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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 PMID:20979233 PMID:23401279 PMID:25741868 PMID:27657131 PMID:28492532 More...
NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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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
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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
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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
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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
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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
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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 PMID:16818673 PMID:16950813 PMID:17072331 PMID:17910706 PMID:18222329 PMID:18851874 PMID:19903677 PMID:21622647 PMID:24682681 PMID:25741868 PMID:26117626 PMID:28993958 PMID:29077208 PMID:30422821 PMID:31965418 PMID:33224153 PMID:16333836 More...
RGD:12791265
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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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
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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
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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
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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 PMID:18412279 PMID:23708964 PMID:23864385 PMID:23870671 PMID:24033266 PMID:25601653 PMID:25741868 PMID:26888281 PMID:28417298 PMID:28492532 PMID:28629746 PMID:29948576 PMID:32581362 PMID:32750042 More...
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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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
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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
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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
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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
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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
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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 PMID:25741868 PMID:28492532 PMID:23602711 More...
RGD:9684854
NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232
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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
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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 PMID:9736768 PMID:9856856 PMID:10951256 PMID:11279189 PMID:11295832 PMID:11309369 PMID:11378824 PMID:11416205 PMID:12930312 PMID:12949972 PMID:14656435 PMID:15461765 PMID:15663448 PMID:16199547 PMID:17066260 PMID:17576681 PMID:17970812 PMID:18076698 PMID:18231121 PMID:18384562 PMID:18386312 PMID:18386315 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:22382802 PMID:22428923 PMID:22633615 PMID:22875504 PMID:23293949 PMID:23553579 PMID:23744313 PMID:23926003 PMID:23989902 PMID:23991204 PMID:24033266 PMID:24279917 PMID:24312213 PMID:24330993 PMID:24487376 PMID:24648697 PMID:24689965 PMID:24724966 PMID:25333067 PMID:25626993 PMID:25741868 PMID:26273176 PMID:26345974 PMID:26634545 PMID:26753551 PMID:27054699 PMID:27144394 PMID:27305980 PMID:27538153 PMID:27657131 PMID:28045201 PMID:28492532 PMID:29444360 PMID:30117778 PMID:31306530 PMID:31796081 PMID:31924237 PMID:31028034 More...
RGD:14398763
NCBI chr X:65,078,454...65,480,172
Ensembl chr X:65,078,673...65,480,172
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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 PMID:28492532 PMID:28808699 More...
NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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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 PMID:22013926 More...
RGD:14398762
NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447
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EdaraddswhKyo
EDAR-associated death domain;swh Kyo mutant
IAGP
RGD
PMID:22013926
RGD:14398762
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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 PMID:28492532 PMID:28808699 More...
NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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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
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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 PMID:23167694 PMID:23401279 PMID:24449199 PMID:24700731 PMID:25629078 PMID:25713620 PMID:25741868 PMID:26964878 PMID:27881089 PMID:28105635 PMID:28492532 PMID:28813618 PMID:28976000 PMID:29364747 PMID:30426266 PMID:30974434 PMID:35537890 More...
NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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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
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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
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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 PMID:20944642 PMID:23039039 PMID:23232694 PMID:24033266 PMID:25620205 PMID:25741868 PMID:28492532 PMID:31282071 PMID:31803976 More...
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Liph
lipase H
ISO
ClinVar Annotator: match by term: 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 More...
NCBI chr11:79,032,229...79,081,625
Ensembl chr11:79,033,312...79,081,625
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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
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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
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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
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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
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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
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Lss
lanosterol synthase
ISO
ClinVar Annotator: match by term: Hypotrichosis 14
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30401459 PMID:30723320 PMID:33155697 PMID:35803560 More...
NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
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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
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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
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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 PMID:19897589 PMID:20659777 PMID:20814945 More...
NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313
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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 PMID:19897589 PMID:20659777 PMID:20814945 More...
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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
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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 PMID:17392831 PMID:25251037 PMID:25741868 PMID:26173648 PMID:28492532 PMID:29796690 More...
NCBI chr18:11,720,844...11,757,927
Ensembl chr18:11,720,975...11,756,234
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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 PMID:19892526 PMID:20213768 PMID:21352330 PMID:21426374 PMID:22449147 PMID:23590372 PMID:24033266 PMID:24722066 PMID:25201209 PMID:25271093 PMID:25741868 PMID:25899282 PMID:28492532 More...
NCBI chr11:79,032,229...79,081,625
Ensembl chr11:79,033,312...79,081,625
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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
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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 PMID:21070332 PMID:21426374 PMID:25119526 PMID:25741868 PMID:28425126 PMID:36173926 More...
NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331
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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 PMID:21070332 PMID:21426374 PMID:25119526 PMID:25741868 PMID:28425126 PMID:36173926 More...
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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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
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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 PMID:31358114 PMID:12740761 More...
RGD:1599075
NCBI chr 3:168,785,488...168,787,290
Ensembl chr 3:168,785,490...168,787,290
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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 PMID:29307792 PMID:31042466 More...
NCBI chr 3:168,785,488...168,787,290
Ensembl chr 3:168,785,490...168,787,290
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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
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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
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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 PMID:24313295 PMID:25741868 PMID:28492532 More...
NCBI chr X:37,410,914...37,461,130
Ensembl chr X:37,410,811...37,464,430
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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
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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
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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 PMID:15521008 More...
RGD:11341732
NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724
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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
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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 PMID:27277385 PMID:28492532 PMID:30769224 More...
NCBI chr 3:133,086,858...133,303,604
Ensembl chr 3:133,086,749...133,303,604
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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
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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
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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
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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
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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
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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
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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
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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 PMID:22426308 PMID:22822383 PMID:23752187 PMID:23929686 PMID:24090879 PMID:25169058 PMID:25326635 PMID:25326637 PMID:25741868 PMID:27099726 PMID:27399259 PMID:27479843 PMID:27665729 PMID:28333917 PMID:28424519 PMID:28492532 PMID:28824374 PMID:30459321 PMID:31785789 PMID:32694869 PMID:35887114 More...
NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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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:22670144 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:26467025 PMID:26519477 PMID:27466182 PMID:28492532 PMID:29907801 PMID:30348783 PMID:34008892 More...
NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337
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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 PMID:21396583 PMID:21548061 PMID:21784453 PMID:22253195 PMID:22419608 PMID:22528146 PMID:22606262 PMID:22670144 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:26467025 PMID:26519477 PMID:27466182 PMID:28074886 PMID:28301460 PMID:28492532 PMID:29907801 PMID:30348783 PMID:33673806 PMID:34008892 PMID:35348676 PMID:23918763 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
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 PMID:27868344 PMID:28211982 PMID:28492532 PMID:30236064 PMID:30348783 PMID:31474318 PMID:33333793 PMID:33491856 More...
NCBI chr 6:23,958,813...23,992,841
Ensembl chr 6:23,960,998...23,992,824
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 PMID:28492532 PMID:30628995 More...
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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 PMID:20979233 PMID:21143469 PMID:21279306 PMID:21484994 PMID:21834823 PMID:22581971 PMID:22670871 PMID:23167694 PMID:23401279 PMID:24043634 PMID:24311251 PMID:24312213 PMID:24398796 PMID:24449199 PMID:24458874 PMID:24700731 PMID:24702986 PMID:24902757 PMID:25356970 PMID:25545742 PMID:25629078 PMID:25713620 PMID:25741868 PMID:26087098 PMID:26964878 PMID:27881089 PMID:28105635 PMID:28492532 PMID:28813618 PMID:28976000 PMID:28981473 PMID:29178643 PMID:29364747 PMID:30426266 PMID:30526585 PMID:30569517 PMID:30974434 PMID:31103801 PMID:33034246 PMID:35537890 PMID:36071541 More...
NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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 PMID:25741868 PMID:26336158 PMID:26374189 PMID:26791357 PMID:28492532 PMID:30569574 More...
NCBI chr 8:106,922,058...106,991,678
Ensembl chr 8:106,922,978...106,991,089
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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 PMID:16199547 PMID:17576681 PMID:18339010 PMID:20864124 PMID:20978268 PMID:21507891 PMID:24033266 PMID:25173801 PMID:25741868 PMID:27484032 PMID:28492532 PMID:28636882 PMID:31447097 PMID:31566583 PMID:33464451 PMID:37419334 More...
NCBI chr10:63,251,400...63,273,710
Ensembl chr10:63,251,400...63,273,710
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
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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 PMID:18049083 PMID:18175354 PMID:18414213 PMID:19026396 PMID:20507343 PMID:21044051 PMID:21964978 PMID:24015686 PMID:24088041 PMID:25326637 PMID:25741868 PMID:26612766 PMID:26633545 PMID:26664771 PMID:27489925 PMID:28492532 PMID:29178422 PMID:29546359 PMID:31323129 PMID:31347785 PMID:35876063 More...
NCBI chr 3:55,863,776...55,895,601
Ensembl chr 3:55,863,799...55,891,820
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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 PMID:20507343 PMID:25741868 PMID:26612766 PMID:28492532 PMID:31323129 More...
NCBI chr 3:55,731,453...55,863,652
Ensembl chr 3:55,770,167...55,863,676
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
18969
sensory system disease
6961
skin disease
3968
hair disease
328
hypotrichosis
148
Basaran Yilmaz Syndrome
1
Bazex-Dupre-Christol Syndrome
0
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
0
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
1
Ectodermal Dysplasia, Trichoodontoonychial Type
0
Hypotrichosis 15
1
Hypotrichosis and Recurrent Skin Vesicles
1
Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate
0
Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome
0
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
0
Nicolaides-Baraitser syndrome
4
Rombo Syndrome
0
Schopf-Schulz-Passarge syndrome
1
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis
1
Spondyloepimetaphyseal Dysplasia with Hypotrichosis
0
Storm Syndrome
0
Trichoodontoonychial Dysplasia
0
alopecia +
94
autosomal recessive congenital ichthyosis 11
1
autosomal recessive woolly hair 3
1
congenital hypotrichosis with juvenile macular dystrophy
1
diphthamide deficiency syndrome +
4
hypohidrotic ectodermal dysplasia +
28
hypotrichosis 1
6
hypotrichosis 10
0
hypotrichosis 11
1
hypotrichosis 12
1
hypotrichosis 13
1
hypotrichosis 14
1
hypotrichosis 2
1
hypotrichosis 3
0
hypotrichosis 4
2
hypotrichosis 5
1
hypotrichosis 6
1
hypotrichosis 7
1
hypotrichosis 8
3
hypotrichosis 9
0
hypotrichosis of eyelid
0
hypotrichosis-lymphedema-telangiectasia syndrome +
1
Path 2
disease
18969
disease of anatomical entity
18249
nervous system disease
14091
Neurologic Manifestations
10055
sensory system disease
6961
skin disease
3968
hair disease
328
hypotrichosis
148
Basaran Yilmaz Syndrome
1
Bazex-Dupre-Christol Syndrome
0
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
0
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
1
Ectodermal Dysplasia, Trichoodontoonychial Type
0
Hypotrichosis 15
1
Hypotrichosis and Recurrent Skin Vesicles
1
Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate
0
Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome
0
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
0
Nicolaides-Baraitser syndrome
4
Rombo Syndrome
0
Schopf-Schulz-Passarge syndrome
1
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis
1
Spondyloepimetaphyseal Dysplasia with Hypotrichosis
0
Storm Syndrome
0
Trichoodontoonychial Dysplasia
0
alopecia +
94
autosomal recessive congenital ichthyosis 11
1
autosomal recessive woolly hair 3
1
congenital hypotrichosis with juvenile macular dystrophy
1
diphthamide deficiency syndrome +
4
hypohidrotic ectodermal dysplasia +
28
hypotrichosis 1
6
hypotrichosis 10
0
hypotrichosis 11
1
hypotrichosis 12
1
hypotrichosis 13
1
hypotrichosis 14
1
hypotrichosis 2
1
hypotrichosis 3
0
hypotrichosis 4
2
hypotrichosis 5
1
hypotrichosis 6
1
hypotrichosis 7
1
hypotrichosis 8
3
hypotrichosis 9
0
hypotrichosis of eyelid
0
hypotrichosis-lymphedema-telangiectasia syndrome +
1