Source: CLINVAR

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: 5147
Gene Symbol: PDE6D
PDE6D 		phosphodiesterase 6D 0.623 0.577 6.4E-03
CUI: C3810278
Disease: JOUBERT SYNDROME 22
JOUBERT SYNDROME 22 		disease 0.400 None 1.000 0 2 2014 2019
Entrez Id: 5147
Gene Symbol: PDE6D
PDE6D 		phosphodiesterase 6D 0.623 0.577 6.4E-03
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		disease 0.120 None 1.000 0 1 2014 2019
Entrez Id: 5147
Gene Symbol: PDE6D
PDE6D 		phosphodiesterase 6D 0.623 0.577 6.4E-03
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease 0.100 None 0 1
Entrez Id: 5147
Gene Symbol: PDE6D
PDE6D 		phosphodiesterase 6D 0.623 0.577 6.4E-03
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		disease 0.100 None 0 1
Entrez Id: 5147
Gene Symbol: PDE6D
PDE6D 		phosphodiesterase 6D 0.623 0.577 6.4E-03
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		phenotype 0.100 None 0 1
Entrez Id: 5147
Gene Symbol: PDE6D
PDE6D 		phosphodiesterase 6D 0.623 0.577 6.4E-03
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		disease 0.100 None 0 1
Entrez Id: 5147
Gene Symbol: PDE6D
PDE6D 		phosphodiesterase 6D 0.623 0.577 6.4E-03
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		phenotype 0.100 None 0 1
Entrez Id: 5147
Gene Symbol: PDE6D
PDE6D 		phosphodiesterase 6D 0.623 0.577 6.4E-03
CUI: C4024936
Disease: Temporal cortical atrophy
Temporal cortical atrophy 		disease 0.100 None 0 1