Ablepharon Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Absent eyelids. (Human Phenotype Ontology, HP_0011224)
External Link https://www.disgenet.org/browser/0/1/0/C0266574
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Genes

18 genes associated with the disease Ablepharon in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ACACA acetyl-CoA carboxylase alpha
ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1
BBS2 Bardet-Biedl syndrome 2
BMS1 BMS1 ribosome biogenesis factor
CARD16 caspase recruitment domain family, member 16
COMT catechol-O-methyltransferase
DSG1 desmoglein 1
EEF1A2 eukaryotic translation elongation factor 1 alpha 2
EGFR epidermal growth factor receptor
FRAS1 Fraser extracellular matrix complex subunit 1
GRIA1 glutamate receptor, ionotropic, AMPA 1
PAEP progestagen-associated endometrial protein
PHGDH phosphoglycerate dehydrogenase
STAT1 signal transducer and activator of transcription 1, 91kDa
TPO thyroid peroxidase
TWIST1 twist family bHLH transcription factor 1
TWIST2 twist family bHLH transcription factor 2