Craniofacial Abnormalities Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the face or head affecting appearance (Mammalian Phenotype Ontology, MP_0000428)
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39 genes associated with the Craniofacial Abnormalities phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ADAP2 ArfGAP with dual PH domains 2
ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide
ADTRP androgen-dependent TFPI-regulating protein
ALX4 ALX homeobox 4
ATAD5 ATPase family, AAA domain containing 5
BRAF B-Raf proto-oncogene, serine/threonine kinase
CD44 CD44 molecule (Indian blood group)
CD96 CD96 molecule
CRHR1 corticotropin releasing hormone receptor 1
CRLF3 cytokine receptor-like factor 3
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9
DPRXP4 divergent-paired related homeobox pseudogene 4
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
GLI3 GLI family zinc finger 3
HDAC4 histone deacetylase 4
LEF1 lymphoid enhancer-binding factor 1
LOC400590 uncharacterized LOC400590
LOC646030 leucine-rich repeat-containing protein 37A2-like
LRRC37B leucine rich repeat containing 37B
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAPT microtubule-associated protein tau
MLPH melanophilin
NF1 neurofibromin 1
NSD1 nuclear receptor binding SET domain protein 1
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RNF135 ring finger protein 135
RPS17P3 ribosomal protein S17 pseudogene 3
SCN3B sodium channel, voltage gated, type III beta subunit
SH3GL1P2 SH3-domain GRB2-like 1 pseudogene 2
SOS1 son of sevenless homolog 1 (Drosophila)
SP100 SP100 nuclear antigen
SPPL2C signal peptide peptidase like 2C
SUZ12P1 suppressor of zeste 12 homolog pseudogene 1
TEFM transcription elongation factor, mitochondrial
ZNF202 zinc finger protein 202