abnormally folded helix Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008544
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Genes

30 genes associated with the abnormally folded helix phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
AMER1 APC membrane recruitment protein 1
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
BHLHA9 basic helix-loop-helix family, member a9
CHD7 chromodomain helicase DNA binding protein 7
COMT catechol-O-methyltransferase
CPT2 carnitine palmitoyltransferase 2
EFTUD2 elongation factor Tu GTP binding domain containing 2
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
GP1BB glycoprotein Ib (platelet), beta polypeptide
HIRA histone cell cycle regulator
HSPG2 heparan sulfate proteoglycan 2
KANSL1 KAT8 regulatory NSL complex subunit 1
MED12 mediator complex subunit 12
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
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
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
TBX1 T-box 1
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
UFD1L ubiquitin fusion degradation 1 like (yeast)