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: 80856
Gene Symbol: LNPK
LNPK 		lunapark, ER junction formation factor 0.716 0.346 6.2E-04
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease 0.400 moderate 1.000 1 0 2018 2018
Entrez Id: 80856
Gene Symbol: LNPK
LNPK 		lunapark, ER junction formation factor 0.716 0.346 6.2E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 moderate 1.000 1 0 2018 2018
Entrez Id: 80856
Gene Symbol: LNPK
LNPK 		lunapark, ER junction formation factor 0.716 0.346 6.2E-04
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.400 moderate 1.000 1 0 2018 2018
Entrez Id: 80856
Gene Symbol: LNPK
LNPK 		lunapark, ER junction formation factor 0.716 0.346 6.2E-04
CUI: C4748137
Disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM 		disease 0.400 moderate 1.000 1 0 2018 2018
Entrez Id: 80856
Gene Symbol: LNPK
LNPK 		lunapark, ER junction formation factor 0.716 0.346 6.2E-04
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.300 moderate 1.000 1 0 2018 2018
Entrez Id: 80856
Gene Symbol: LNPK
LNPK 		lunapark, ER junction formation factor 0.716 0.346 6.2E-04
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		group 0.300 moderate 1.000 1 0 2018 2018
Entrez Id: 80856
Gene Symbol: LNPK
LNPK 		lunapark, ER junction formation factor 0.716 0.346 6.2E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.300 moderate 1.000 1 0 2018 2018