abnormal facial shape Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal morphology (form) of the face or its components. (Human Phenotype Ontology, HP_0001999)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0001999
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Genes

20 genes associated with the abnormal facial shape phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
PAX3 paired box 3 1.76992
BBS9 Bardet-Biedl syndrome 9 1.4098
CACNA2D3 calcium channel, voltage-dependent, alpha 2/delta subunit 3 1.22285
TMTC2 transmembrane and tetratricopeptide repeat containing 2 1.18288
WDR4 WD repeat domain 4 1.16392
NDUFV3 NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa 1.16343
C5ORF64 chromosome 5 open reading frame 64 1.16063
GLI2 GLI family zinc finger 2 1.15504
PRKG1 protein kinase, cGMP-dependent, type I 1.15206
ST18 suppression of tumorigenicity 18, zinc finger 1.12658
IFFO2 intermediate filament family orphan 2 1.12265
FAM49A family with sequence similarity 49, member A 1.11925
CUBN cubilin (intrinsic factor-cobalamin receptor) 1.11001
MRPL47 mitochondrial ribosomal protein L47 1.10754
ACTL6A actin-like 6A 1.10727
NDUFB5 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa 1.10727
USP8 ubiquitin specific peptidase 8 1.10372
FMN1 formin 1 1.09906
AGBL1 ATP/GTP binding protein-like 1 1.09534
MDH1B malate dehydrogenase 1B, NAD (soluble) 1.0917