Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 128869
Gene Symbol: PIGU
PIGU
0.300 Biomarker disease GENOMICS_ENGLAND Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies. 31353022 2019
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D
0.100 Biomarker disease HPO
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
0.100 Biomarker disease HPO
Entrez Id: 57531
Gene Symbol: HACE1
HACE1
0.100 Biomarker disease HPO