webbed neck Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. (Human Phenotype Ontology, HP_0000465)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000465
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Genes

47 genes associated with the webbed neck phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ACTB actin, beta
ACTG1 actin gamma 1
AMER1 APC membrane recruitment protein 1
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
BCOR BCL6 corepressor
BMPER BMP binding endothelial regulator
BRAF B-Raf proto-oncogene, serine/threonine kinase
CHD7 chromodomain helicase DNA binding protein 7
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
FOXC2 forkhead box C2
GATA2 GATA binding protein 2
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GLE1 GLE1 RNA export mediator
GPC3 glypican 3
GPC4 glypican 4
HRAS Harvey rat sarcoma viral oncogene homolog
IRX5 iroquois homeobox 5
KAT6B K(lysine) acetyltransferase 6B
KRAS Kirsten rat sarcoma viral oncogene homolog
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MEGF8 multiple EGF-like-domains 8
MEOX1 mesenchyme homeobox 1
MKS1 Meckel syndrome, type 1
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NF1 neurofibromin 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAPSN receptor-associated protein of the synapse
RB1 retinoblastoma 1
RIT1 Ras-like without CAAX 1
RPS19 ribosomal protein S19
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SMS spermine synthase
SOS1 son of sevenless homolog 1 (Drosophila)
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TPM2 tropomyosin 2 (beta)