Source: GENOMICS_ENGLAND

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: 1593
Gene Symbol: CYP27A1
CYP27A1 		cytochrome P450 family 27 subfamily A member 1 0.538 0.731 5.3E-19
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		disease 0.800 None 0.985 11 0 1975 2019
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		cytochrome P450 family 27 subfamily A member 1 0.538 0.731 5.3E-19
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.400 strong 1.000 1 0 2018 2018
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		cytochrome P450 family 27 subfamily A member 1 0.538 0.731 5.3E-19
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.400 moderate 1.000 1 0 1991 1991
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		cytochrome P450 family 27 subfamily A member 1 0.538 0.731 5.3E-19
CUI: C0393720
Disease: Reflex Epilepsy, Photosensitive
Reflex Epilepsy, Photosensitive 		disease 0.300 moderate 1.000 1 0 1991 1991
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		cytochrome P450 family 27 subfamily A member 1 0.538 0.731 5.3E-19
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0