abnormality of the frontal hairline Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not. (Human Phenotype Ontology, HP_0000599)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000599
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Genes

51 genes associated with the abnormality of the frontal hairline phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ALX3 ALX homeobox 3
ANKRD11 ankyrin repeat domain 11
ARX aristaless related homeobox
ASXL1 additional sex combs like transcriptional regulator 1
CREBBP CREB binding protein
DOCK6 dedicator of cytokinesis 6
DOCK7 dedicator of cytokinesis 7
EFNB1 ephrin-B1
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
GRIP1 glutamate receptor interacting protein 1
HDAC8 histone deacetylase 8
HSPG2 heparan sulfate proteoglycan 2
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIG4 ligase IV, DNA, ATP-dependent
LRP2 low density lipoprotein receptor-related protein 2
LRPPRC leucine-rich pentatricopeptide repeat containing
MAN2B1 mannosidase, alpha, class 2B, member 1
MID1 midline 1
NBN nibrin
NELFA negative elongation factor complex member A
NIPBL Nipped-B homolog (Drosophila)
NOTCH2 notch 2
NSD1 nuclear receptor binding SET domain protein 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PEPD peptidase D
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
RAB18 RAB18, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD21 RAD21 homolog (S. pombe)
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
SOS1 son of sevenless homolog 1 (Drosophila)
TBC1D20 TBC1 domain family, member 20
TCF12 transcription factor 12
TCOF1 Treacher Collins-Franceschetti syndrome 1
TECPR2 tectonin beta-propeller repeat containing 2
THOC6 THO complex 6
TMCO1 transmembrane and coiled-coil domains 1
TWIST1 twist family bHLH transcription factor 1
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WHSC1 Wolf-Hirschhorn syndrome candidate 1
ZC4H2 zinc finger, C4H2 domain containing