Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23258
Gene Symbol: DENND5A
DENND5A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.400 Biomarker 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
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.400 Biomarker 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