cleft eyelid Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A short discontinuity of the margin of the lower or upper eyelid. (Human Phenotype Ontology, HP_0000625)
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23 genes associated with the cleft eyelid phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADAR adenosine deaminase, RNA-specific
ALX1 ALX homeobox 1
CHD7 chromodomain helicase DNA binding protein 7
DHODH dihydroorotate dehydrogenase (quinone)
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FAM58A family with sequence similarity 58, member A
FRAS1 Fraser extracellular matrix complex subunit 1
FREM1 FRAS1 related extracellular matrix 1
FREM2 FRAS1 related extracellular matrix protein 2
GRIP1 glutamate receptor interacting protein 1
IFIH1 interferon induced with helicase C domain 1
KCTD1 potassium channel tetramerization domain containing 1
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
RIPK4 receptor-interacting serine-threonine kinase 4
RNASEH2A ribonuclease H2, subunit A
RNASEH2B ribonuclease H2, subunit B
RNASEH2C ribonuclease H2, subunit C
SAMHD1 SAM domain and HD domain 1
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SF3B4 splicing factor 3b, subunit 4, 49kDa
TCOF1 Treacher Collins-Franceschetti syndrome 1
TREX1 three prime repair exonuclease 1