Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		0.100 GeneticVariation phenotype CLINVAR
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: 4298
Gene Symbol: MLLT1
MLLT1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.100 GeneticVariation phenotype CLINVAR
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