Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23258
Gene Symbol: DENND5A
DENND5A
0.400 Biomarker disease GENOMICS_ENGLAND Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. 27431290 2017
Entrez Id: 23258
Gene Symbol: DENND5A
DENND5A
0.400 Biomarker disease GENOMICS_ENGLAND Here, we have identified an epileptic encephalopathy additionally featuring cerebral calcifications and coarse facial features caused by recessive loss-of-function mutations in DENND5A. 27866705 2016
Entrez Id: 23258
Gene Symbol: DENND5A
DENND5A
0.400 Biomarker disease HPO