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: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		phenotype 0.420 None 1.000 0 1 1998 2018
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		phenotype 0.130 None 1.000 0 1 2007 2013
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		phenotype 0.100 None 0 1
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2 		post-GPI attachment to proteins 2 0.633 0.615 0.93
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		phenotype 0.100 None 0 1
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		protocadherin 19 0.599 0.462 1.00
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		phenotype 0.100 None 0 1