abnormality of the helix Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe. (Human Phenotype Ontology, HP_0011039)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011039
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Genes

66 genes associated with the abnormality of the helix 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
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ACTB actin, beta
ADAMTSL2 ADAMTS-like 2
ALOX12B arachidonate 12-lipoxygenase, 12R type
AMER1 APC membrane recruitment protein 1
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
BHLHA9 basic helix-loop-helix family, member a9
BMP2 bone morphogenetic protein 2
BRAF B-Raf proto-oncogene, serine/threonine kinase
CHD7 chromodomain helicase DNA binding protein 7
COMT catechol-O-methyltransferase
CPT2 carnitine palmitoyltransferase 2
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
EFTUD2 elongation factor Tu GTP binding domain containing 2
FAM111A family with sequence similarity 111, member A
FBN2 fibrillin 2
FGF10 fibroblast growth factor 10
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
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GRIP1 glutamate receptor interacting protein 1
HIRA histone cell cycle regulator
HSPG2 heparan sulfate proteoglycan 2
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KRAS Kirsten rat sarcoma viral oncogene homolog
LIPN lipase, family member N
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MED12 mediator complex subunit 12
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NDP Norrie disease (pseudoglioma)
NF1 neurofibromin 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPAL4 NIPA-like domain containing 4
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
PEX1 peroxisomal biogenesis factor 1
PEX5 peroxisomal biogenesis factor 5
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PLCB4 phospholipase C, beta 4
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RB1 retinoblastoma 1
RIT1 Ras-like without CAAX 1
SALL1 spalt-like transcription factor 1
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SOS1 son of sevenless homolog 1 (Drosophila)
TBX1 T-box 1
TCF4 transcription factor 4
TCTN3 tectonic family member 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGM1 transglutaminase 1
TWIST1 twist family bHLH transcription factor 1
UFD1L ubiquitin fusion degradation 1 like (yeast)