Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
0.100 GeneticVariation CLINVAR

Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
0.100 GeneticVariation CLINVAR

Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
0.100 GeneticVariation CLINVAR

Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
0.100 GeneticVariation CLINVAR

Entrez Id: 8726
Gene Symbol: EED
EED
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
0.100 GeneticVariation CLINVAR

Entrez Id: 6786
Gene Symbol: STIM1
STIM1
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
0.100 GeneticVariation CLINVAR

Entrez Id: 7874
Gene Symbol: USP7
USP7
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
0.100 GeneticVariation CLINVAR

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
0.100 GeneticVariation CLINVAR

Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
0.100 GeneticVariation CLINVAR

Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
0.100 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017

Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
0.100 GeneticVariation CLINVAR

Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
0.100 GeneticVariation CLINVAR

Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
0.100 GeneticVariation CLINVAR

Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
0.100 GeneticVariation CLINVAR

Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
0.100 GeneticVariation CLINVAR

Entrez Id: 79876
Gene Symbol: UBA5
UBA5
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
0.100 GeneticVariation CLINVAR

Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
0.100 CausalMutation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
0.100 CausalMutation CLINVAR

Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
0.100 CausalMutation CLINVAR

Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
0.100 CausalMutation CLINVAR

Entrez Id: 51322
Gene Symbol: WAC
WAC
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
0.100 CausalMutation CLINVAR

Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
0.100 CausalMutation CLINVAR

Entrez Id: 79876
Gene Symbol: UBA5
UBA5
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
0.100 CausalMutation CLINVAR

Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
0.100 CausalMutation CLINVAR

Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
0.100 CausalMutation CLINVAR