Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
0.110 GeneticVariation disease BEFREE OPHN1 mutations cause a syndromic form of mental retardation (MR) characterized by cerebellar hypoplasia, early hypotonia, motor and speech delay, with occasional seizures and strabismus. 18512229 2008
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
0.110 Biomarker disease HPO