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: 4204
Gene Symbol: MECP2
MECP2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.100 CausalMutation phenotype CLINVAR
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: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 55650
Gene Symbol: PIGV
PIGV 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 51322
Gene Symbol: WAC
WAC 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		0.100 CausalMutation phenotype CLINVAR
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: 23522
Gene Symbol: KAT6B
KAT6B 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		0.100 CausalMutation 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: 10075
Gene Symbol: HUWE1
HUWE1 		0.100 CausalMutation phenotype CLINVAR
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