Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 8099
Gene Symbol: CDK2AP1
CDK2AP1 		cyclin dependent kinase 2 associated protein 1 0.656 0.538 0.45
CUI: C3150801
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 		disease 0.100 None 1.000 3 3 2010 2015
Entrez Id: 8099
Gene Symbol: CDK2AP1
CDK2AP1 		cyclin dependent kinase 2 associated protein 1 0.656 0.538 0.45
CUI: C3539506
Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 		disease 0.100 None 1.000 1 6 2010 2010
Entrez Id: 8099
Gene Symbol: CDK2AP1
CDK2AP1 		cyclin dependent kinase 2 associated protein 1 0.656 0.538 0.45
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		disease 0.100 None 0 1
Entrez Id: 8099
Gene Symbol: CDK2AP1
CDK2AP1 		cyclin dependent kinase 2 associated protein 1 0.656 0.538 0.45
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.100 None 0 1
Entrez Id: 8099
Gene Symbol: CDK2AP1
CDK2AP1 		cyclin dependent kinase 2 associated protein 1 0.656 0.538 0.45
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 0 1