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: 6329
Gene Symbol: SCN4A
SCN4A 		sodium voltage-gated channel alpha subunit 4 0.554 0.731 1.3E-02
CUI: C1279412
Disease: periodic paralysis (finding)
periodic paralysis (finding) 		disease 0.200 None 1.000 0 0 2000 2019
Entrez Id: 100134444
Gene Symbol: KCNJ18
KCNJ18 		potassium inwardly rectifying channel subfamily J member 18 0.722 0.346
CUI: C1279412
Disease: periodic paralysis (finding)
periodic paralysis (finding) 		disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6 		ATP binding cassette subfamily B member 6 (Langereis blood group) 0.431 0.885 8.6E-19
CUI: C1279412
Disease: periodic paralysis (finding)
periodic paralysis (finding) 		disease 0.100 None 0 0
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C1279412
Disease: periodic paralysis (finding)
periodic paralysis (finding) 		disease 0.100 None 0 0
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		solute carrier family 4 member 1 (Diego blood group) 0.522 0.731 0.85
CUI: C1279412
Disease: periodic paralysis (finding)
periodic paralysis (finding) 		disease 0.100 None 0 0
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S 		calcium voltage-gated channel subunit alpha1 S 0.595 0.692 6.3E-12
CUI: C1279412
Disease: periodic paralysis (finding)
periodic paralysis (finding) 		disease 0.100 None 0 0