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: 10908
Gene Symbol: PNPLA6
PNPLA6 		patatin like phospholipase domain containing 6 0.533 0.769 1.9E-13
CUI: C1859093
Disease: Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism
Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism 		disease 0.750 None 0.875 3 0 2013 2018
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6 		patatin like phospholipase domain containing 6 0.533 0.769 1.9E-13
CUI: C2677586
Disease: Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 39, Autosomal Recessive 		disease 0.740 None 1.000 3 0 2008 2018
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6 		patatin like phospholipase domain containing 6 0.533 0.769 1.9E-13
CUI: C1848745
Disease: Oliver-McFarlane syndrome
Oliver-McFarlane syndrome 		disease 0.720 None 1.000 2 0 2013 2015
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6 		patatin like phospholipase domain containing 6 0.533 0.769 1.9E-13
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		disease 0.300 moderate 1.000 1 0 2014 2014
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6 		patatin like phospholipase domain containing 6 0.533 0.769 1.9E-13
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease 0.300 limited 0 0