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: 4047
Gene Symbol: LSS
LSS 		lanosterol synthase 0.606 0.654 1.8E-07
CUI: C4225300
Disease: CATARACT 44
CATARACT 44 		disease 0.700 None 1.000 2 0 2015 2017
Entrez Id: 4047
Gene Symbol: LSS
LSS 		lanosterol synthase 0.606 0.654 1.8E-07
CUI: C0002170
Disease: Alopecia
Alopecia 		disease 0.420 moderate 1.000 1 0 2017 2019
Entrez Id: 4047
Gene Symbol: LSS
LSS 		lanosterol synthase 0.606 0.654 1.8E-07
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.320 moderate 1.000 1 0 2017 2019
Entrez Id: 4047
Gene Symbol: LSS
LSS 		lanosterol synthase 0.606 0.654 1.8E-07
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.300 moderate 1.000 1 0 2017 2017
Entrez Id: 4047
Gene Symbol: LSS
LSS 		lanosterol synthase 0.606 0.654 1.8E-07
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.300 moderate 1.000 1 0 2017 2017
Entrez Id: 4047
Gene Symbol: LSS
LSS 		lanosterol synthase 0.606 0.654 1.8E-07
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.300 moderate 1.000 1 0 2017 2017
Entrez Id: 4047
Gene Symbol: LSS
LSS 		lanosterol synthase 0.606 0.654 1.8E-07
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		group 0.300 moderate 1.000 1 0 2017 2017
Entrez Id: 4047
Gene Symbol: LSS
LSS 		lanosterol synthase 0.606 0.654 1.8E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.300 moderate 1.000 1 0 2017 2017
Entrez Id: 4047
Gene Symbol: LSS
LSS 		lanosterol synthase 0.606 0.654 1.8E-07
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		phenotype 0.300 moderate 1.000 1 0 2017 2017