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: 132
Gene Symbol: ADK
ADK 		adenosine kinase 0.584 0.769 3.1E-04
CUI: C4022737
Disease: Neurodevelopmental abnormality
Neurodevelopmental abnormality 		phenotype 0.100 None 0 1
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		dynein cytoplasmic 1 heavy chain 1 0.547 0.769 1.00
CUI: C4022737
Disease: Neurodevelopmental abnormality
Neurodevelopmental abnormality 		phenotype 0.100 None 0 1
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		G protein subunit beta 1 0.617 0.731 1.00
CUI: C4022737
Disease: Neurodevelopmental abnormality
Neurodevelopmental abnormality 		phenotype 0.100 None 0 1
Entrez Id: 3098
Gene Symbol: HK1
HK1 		hexokinase 1 0.542 0.731 0.91
CUI: C4022737
Disease: Neurodevelopmental abnormality
Neurodevelopmental abnormality 		phenotype 0.100 None 0 1
Entrez Id: 6942
Gene Symbol: TCF20
TCF20 		transcription factor 20 0.644 0.423 1.00
CUI: C4022737
Disease: Neurodevelopmental abnormality
Neurodevelopmental abnormality 		phenotype 0.100 None 0 14
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C 		lysine demethylase 5C 0.581 0.538 1.00
CUI: C4022737
Disease: Neurodevelopmental abnormality
Neurodevelopmental abnormality 		phenotype 0.100 None 0 1