×
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
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
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