Source: HPO

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: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 moderate 1.000 0 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 0 0 2018 2018
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 0 0 2018 2018
Entrez Id: 80856
Gene Symbol: LNPK
LNPK 		lunapark, ER junction formation factor 0.716 0.346 6.2E-04
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 0.100 None 0 0
Entrez Id: 80856
Gene Symbol: LNPK
LNPK 		lunapark, ER junction formation factor 0.716 0.346 6.2E-04
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.100 None 0 0
Entrez Id: 80856
Gene Symbol: LNPK
LNPK 		lunapark, ER junction formation factor 0.716 0.346 6.2E-04
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		phenotype 0.100 None 0 0
Entrez Id: 80856
Gene Symbol: LNPK
LNPK 		lunapark, ER junction formation factor 0.716 0.346 6.2E-04
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype 0.100 None 0 0
Entrez Id: 80856
Gene Symbol: LNPK
LNPK 		lunapark, ER junction formation factor 0.716 0.346 6.2E-04
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		phenotype 0.100 None 0 0
Entrez Id: 80856
Gene Symbol: LNPK
LNPK 		lunapark, ER junction formation factor 0.716 0.346 6.2E-04
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.100 None 0 0
Entrez Id: 80856
Gene Symbol: LNPK
LNPK 		lunapark, ER junction formation factor 0.716 0.346 6.2E-04
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		disease 0.100 None 0 0