Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
0.100 GeneticVariation phenotype CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
Entrez Id: 23347
Gene Symbol: SMCHD1
SMCHD1
0.100 CausalMutation phenotype CLINVAR SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. 28067909 2017
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
0.100 GeneticVariation phenotype CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
Entrez Id: 4338
Gene Symbol: MOCS2
MOCS2
0.100 Biomarker phenotype HPO
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
0.100 Biomarker phenotype HPO
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A
0.100 Biomarker phenotype HPO
Entrez Id: 5982
Gene Symbol: RFC2
RFC2
0.100 Biomarker phenotype HPO
Entrez Id: 3835
Gene Symbol: KIF22
KIF22
0.100 Biomarker phenotype HPO
Entrez Id: 6229
Gene Symbol: RPS24
RPS24
0.100 Biomarker phenotype HPO
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
0.100 Biomarker phenotype HPO
Entrez Id: 80324
Gene Symbol: PUS1
PUS1
0.100 Biomarker phenotype HPO
Entrez Id: 6651
Gene Symbol: SON
SON
0.100 Biomarker phenotype HPO
Entrez Id: 25782
Gene Symbol: RAB3GAP2
RAB3GAP2
0.100 Biomarker phenotype HPO
Entrez Id: 10907
Gene Symbol: TXNL4A
TXNL4A
0.100 Biomarker phenotype HPO
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
0.100 Biomarker phenotype HPO
Entrez Id: 8913
Gene Symbol: CACNA1G
CACNA1G
0.100 Biomarker phenotype HPO
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
0.100 Biomarker phenotype HPO
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.100 Biomarker phenotype HPO
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
0.100 Biomarker phenotype HPO
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
0.100 Biomarker phenotype HPO
Entrez Id: 6997
Gene Symbol: TDGF1
TDGF1
0.100 Biomarker phenotype HPO
Entrez Id: 6135
Gene Symbol: RPL11
RPL11
0.100 Biomarker phenotype HPO
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
0.100 Biomarker phenotype HPO
Entrez Id: 551
Gene Symbol: AVP
AVP
0.100 Biomarker phenotype HPO
Entrez Id: 26608
Gene Symbol: TBL2
TBL2
0.100 Biomarker phenotype HPO