abnormal hair quantity Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal amount of hair. (Human Phenotype Ontology, HP_0011362)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011362
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Genes

377 genes associated with the abnormal hair quantity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABHD5 abhydrolase domain containing 5
ACVR1 activin A receptor, type I
ADA adenosine deaminase
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AIP aryl hydrocarbon receptor interacting protein
AIRE autoimmune regulator
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALAD aminolevulinate dehydratase
ALMS1 Alstrom syndrome protein 1
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
ALX1 ALX homeobox 1
ALX4 ALX homeobox 4
ANTXR1 anthrax toxin receptor 1
APCDD1 adenomatosis polyposis coli down-regulated 1
APOE apolipoprotein E
AR androgen receptor
ARHGAP31 Rho GTPase activating protein 31
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARL6 ADP-ribosylation factor-like 6
ARMC5 armadillo repeat containing 5
ARSB arylsulfatase B
ARX aristaless related homeobox
ASL argininosuccinate lyase
ASXL1 additional sex combs like transcriptional regulator 1
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATR ATR serine/threonine kinase
ATRIP ATR interacting protein
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BBIP1 BBSome interacting protein 1
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BLM Bloom syndrome, RecQ helicase-like
BMP15 bone morphogenetic protein 15
BRAF B-Raf proto-oncogene, serine/threonine kinase
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BTD biotinidase
BTK Bruton agammaglobulinemia tyrosine kinase
CANT1 calcium activated nucleotidase 1
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CBS cystathionine-beta-synthase
CCBE1 collagen and calcium binding EGF domains 1
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDON cell adhesion associated, oncogene regulated
CDSN corneodesmosin
CENPJ centromere protein J
CEP152 centrosomal protein 152kDa
CEP290 centrosomal protein 290kDa
CERS3 ceramide synthase 3
CHD7 chromodomain helicase DNA binding protein 7
CHMP1A charged multivesicular body protein 1A
CHSY1 chondroitin sulfate synthase 1
CLDN1 claudin 1
CLMP CXADR-like membrane protein
COL11A1 collagen, type XI, alpha 1
COL3A1 collagen, type III, alpha 1
COL7A1 collagen, type VII, alpha 1
COX1
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
COX2
COX3
CREBBP CREB binding protein
CTC1 CTS telomere maintenance complex component 1
CTSC cathepsin C
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
DCAF17 DDB1 and CUL4 associated factor 17
DCLRE1C DNA cross-link repair 1C
DKC1 dyskeratosis congenita 1, dyskerin
DMPK dystrophia myotonica-protein kinase
DOCK6 dedicator of cytokinesis 6
DSC3 desmocollin 3
DSG1 desmoglein 1
DSG4 desmoglein 4
DSP desmoplakin
EBP emopamil binding protein (sterol isomerase)
ECM1 extracellular matrix protein 1
EDA ectodysplasin A
EDA2R ectodysplasin A2 receptor
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
EDN3 endothelin 3
EDNRB endothelin receptor type B
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EPS8L3 EPS8-like 3
ERCC6 excision repair cross-complementation group 6
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXT1 exostosin glycosyltransferase 1
FAM111B family with sequence similarity 111, member B
FGF3 fibroblast growth factor 3
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FIG4 FIG4 phosphoinositide 5-phosphatase
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FMR1 fragile X mental retardation 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXE1 forkhead box E1
FOXN1 forkhead box N1
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM1 FRAS1 related extracellular matrix 1
FREM2 FRAS1 related extracellular matrix protein 2
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA1 GATA binding protein 1 (globin transcription factor 1)
GHR growth hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GJB2 gap junction protein, beta 2, 26kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
GJB6 gap junction protein, beta 6, 30kDa
GLB1 galactosidase, beta 1
GLI3 GLI family zinc finger 3
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNS glucosamine (N-acetyl)-6-sulfatase
GRIP1 glutamate receptor interacting protein 1
GUSB glucuronidase, beta
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HFE hemochromatosis
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HLA-DRA major histocompatibility complex, class II, DR alpha
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HMGA2 high mobility group AT-hook 2
HOXC13 homeobox C13
HPD 4-hydroxyphenylpyruvate dioxygenase
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HR hair growth associated
HRAS Harvey rat sarcoma viral oncogene homolog
HSPG2 heparan sulfate proteoglycan 2
HTRA1 HtrA serine peptidase 1
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFT122 intraflagellar transport 122
IFT27 intraflagellar transport 27
IFT43 intraflagellar transport 43
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
IL2RG interleukin 2 receptor, gamma
IL7R interleukin 7 receptor
INSR insulin receptor
IRF6 interferon regulatory factor 6
JUP junction plakoglobin
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KCTD1 potassium channel tetramerization domain containing 1
KDM5C lysine (K)-specific demethylase 5C
KDM6A lysine (K)-specific demethylase 6A
KIF1BP KIF1 binding protein
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLLN killin, p53-regulated DNA replication inhibitor
KMT2A lysine (K)-specific methyltransferase 2A
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT10 keratin 10, type I
KRT14 keratin 14, type I
KRT16 keratin 16, type I
KRT17 keratin 17, type I
KRT6A keratin 6A, type II
KRT6B keratin 6B, type II
KRT71 keratin 71, type II
KRT74 keratin 74, type II
KRT81 keratin 81, type II
KRT83 keratin 83, type II
KRT85 keratin 85, type II
KRT86 keratin 86, type II
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LEMD3 LEM domain containing 3
LIG4 ligase IV, DNA, ATP-dependent
LIPH lipase, member H
LIPN lipase, family member N
LMNA lamin A/C
LMNB2 lamin B2
LPAR6 lysophosphatidic acid receptor 6
LRP5 low density lipoprotein receptor-related protein 5
LRPPRC leucine-rich pentatricopeptide repeat containing
LZTFL1 leucine zipper transcription factor-like 1
MAN2B1 mannosidase, alpha, class 2B, member 1
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MBD5 methyl-CpG binding domain protein 5
MBTPS2 membrane-bound transcription factor peptidase, site 2
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGP matrix Gla protein
MITF microphthalmia-associated transcription factor
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MMP1 matrix metallopeptidase 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
NAGLU N-acetylglucosaminidase, alpha
NBN nibrin
ND1
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
NF1 neurofibromin 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NHP2 NHP2 ribonucleoprotein
NIPAL4 NIPA-like domain containing 4
NIPBL Nipped-B homolog (Drosophila)
NOP10 NOP10 ribonucleoprotein
NOTCH1 notch 1
NOTCH2 notch 2
NPHP1 nephronophthisis 1 (juvenile)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
PAH phenylalanine hydroxylase
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PAX3 paired box 3
PCNT pericentrin
PEPD peptidase D
PEX7 peroxisomal biogenesis factor 7
PHF6 PHD finger protein 6
PHF8 PHD finger protein 8
PHGDH phosphoglycerate dehydrogenase
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PKP1 plakophilin 1
PLEC plectin
PNPLA1 patatin-like phospholipase domain containing 1
PORCN porcupine homolog (Drosophila)
PPARG peroxisome proliferator-activated receptor gamma
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PRDM16 PR domain containing 16
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTRF polymerase I and transcript release factor
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
RAB18 RAB18, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD21 RAD21 homolog (S. pombe)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RAI1 retinoic acid induced 1
RBBP8 retinoblastoma binding protein 8
RBM28 RNA binding motif protein 28
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RECQL4 RecQ protein-like 4
RIPK4 receptor-interacting serine-threonine kinase 4
RIT1 Ras-like without CAAX 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL21 ribosomal protein L21
RTEL1 regulator of telomere elongation helicase 1
SAT1 spermidine/spermine N1-acetyltransferase 1
SATB2 SATB homeobox 2
SDCCAG8 serologically defined colon cancer antigen 8
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEC23A Sec23 homolog A (S. cerevisiae)
SETBP1 SET binding protein 1
SETD5 SET domain containing 5
SGSH N-sulfoglucosamine sulfohydrolase
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SKI SKI proto-oncogene
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLITRK1 SLIT and NTRK-like family, member 1
SLURP1 secreted LY6/PLAUR domain containing 1
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SNAI2 snail family zinc finger 2
SNRPE small nuclear ribonucleoprotein polypeptide E
SOS1 son of sevenless homolog 1 (Drosophila)
SOX10 SRY (sex determining region Y)-box 10
SOX11 SRY (sex determining region Y)-box 11
SOX18 SRY (sex determining region Y)-box 18
SPINK5 serine peptidase inhibitor, Kazal type 5
SRCAP Snf2-related CREBBP activator protein
SRD5A3 steroid 5 alpha-reductase 3
ST14 suppression of tumorigenicity 14 (colon carcinoma)
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SURF1 surfeit 1
TBC1D20 TBC1 domain family, member 20
TBX15 T-box 15
TBX3 T-box 3
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TGM1 transglutaminase 1
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMCO1 transmembrane and coiled-coil domains 1
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNXB tenascin XB
TP63 tumor protein p63
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRAPPC9 trafficking protein particle complex 9
TRIM32 tripartite motif containing 32
TRPS1 trichorhinophalangeal syndrome I
TRPV3 transient receptor potential cation channel, subfamily V, member 3
TTC8 tetratricopeptide repeat domain 8
TTI2 TELO2 interacting protein 2
TWIST2 twist family bHLH transcription factor 2
UBE2A ubiquitin-conjugating enzyme E2A
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2
UROD uroporphyrinogen decarboxylase
UROS uroporphyrinogen III synthase
USB1 U6 snRNA biogenesis 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WDPCP WD repeat containing planar cell polarity effector
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35
WDR81 WD repeat domain 81
WNT10A wingless-type MMTV integration site family, member 10A
WNT4 wingless-type MMTV integration site family, member 4
WNT5A wingless-type MMTV integration site family, member 5A
WRAP53 WD repeat containing, antisense to TP53
WRN Werner syndrome, RecQ helicase-like
XYLT1 xylosyltransferase I
ZBTB20 zinc finger and BTB domain containing 20
ZIC2 Zic family member 2
ZMPSTE24 zinc metallopeptidase STE24