congenital abnormal hair pattern Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A congenital abnormality of the distribution of hair growth. (Human Phenotype Ontology, HP_0011361)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011361
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Genes

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

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACTB actin, beta
ACTG1 actin gamma 1
ALDOA aldolase A, fructose-bisphosphate
ALX3 ALX homeobox 3
ANKRD11 ankyrin repeat domain 11
ARX aristaless related homeobox
ASXL1 additional sex combs like transcriptional regulator 1
B3GAT3 beta-1,3-glucuronyltransferase 3
BRAF B-Raf proto-oncogene, serine/threonine kinase
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CREBBP CREB binding protein
DOCK6 dedicator of cytokinesis 6
DOCK7 dedicator of cytokinesis 7
EFNB1 ephrin-B1
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
FGD1 FYVE, RhoGEF and PH domain containing 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GRIP1 glutamate receptor interacting protein 1
HDAC8 histone deacetylase 8
HNF1B HNF1 homeobox B
HSPG2 heparan sulfate proteoglycan 2
IRX5 iroquois homeobox 5
KAT6B K(lysine) acetyltransferase 6B
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KIAA0196 KIAA0196
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT85 keratin 85, type II
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LHX1 LIM homeobox 1
LIG4 ligase IV, DNA, ATP-dependent
LRP2 low density lipoprotein receptor-related protein 2
LRP5 low density lipoprotein receptor-related protein 5
LRPPRC leucine-rich pentatricopeptide repeat containing
MAN2B1 mannosidase, alpha, class 2B, member 1
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MED12 mediator complex subunit 12
MEOX1 mesenchyme homeobox 1
MID1 midline 1
NBN nibrin
NDN necdin, melanoma antigen (MAGE) family member
NELFA negative elongation factor complex member A
NF1 neurofibromin 1
NIPBL Nipped-B homolog (Drosophila)
NOTCH2 notch 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PEPD peptidase D
PEX19 peroxisomal biogenesis factor 19
PHF8 PHD finger protein 8
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
PTPN11 protein tyrosine phosphatase, non-receptor type 11
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
RIT1 Ras-like without CAAX 1
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SNRPN small nuclear ribonucleoprotein polypeptide N
SOS1 son of sevenless homolog 1 (Drosophila)
SPRED1 sprouty-related, EVH1 domain containing 1
SRCAP Snf2-related CREBBP activator protein
STAMBP STAM binding protein
TBC1D20 TBC1 domain family, member 20
TBX6 T-box 6
TCF12 transcription factor 12
TCOF1 Treacher Collins-Franceschetti syndrome 1
TECPR2 tectonin beta-propeller repeat containing 2
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
THOC6 THO complex 6
TMCO1 transmembrane and coiled-coil domains 1
TSC1 tuberous sclerosis 1
TWIST1 twist family bHLH transcription factor 1
UBE2A ubiquitin-conjugating enzyme E2A
UBR1 ubiquitin protein ligase E3 component n-recognin 1
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WRN Werner syndrome, RecQ helicase-like
ZC4H2 zinc finger, C4H2 domain containing
ZDHHC15 zinc finger, DHHC-type containing 15