Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.100 CausalMutation CLINVAR

Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.100 CausalMutation CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518

2008
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.100 CausalMutation CLINVAR

Entrez Id: 51371
Gene Symbol: POMP
POMP
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.100 CausalMutation CLINVAR

Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.100 CausalMutation CLINVAR New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759

2004
Entrez Id: 6909
Gene Symbol: TBX2
TBX2
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.100 CausalMutation CLINVAR

Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.100 CausalMutation CLINVAR

Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.100 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
Entrez Id: 6608
Gene Symbol: SMO
SMO
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.100 CausalMutation CLINVAR

Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.100 CausalMutation CLINVAR