×
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
0.100
CausalMutation
phenotype
CLINVAR
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
28017372 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: 55975
Gene Symbol: KLHL7
KLHL7
0.100
Biomarker
phenotype
HPO
SNORD115-1
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 6492
Gene Symbol: SIM1
SIM1
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 8514
Gene Symbol: KCNAB2
KCNAB2
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 818
Gene Symbol: CAMK2G
CAMK2G
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 124997
Gene Symbol: WDR81
WDR81
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 6638
Gene Symbol: SNRPN
SNRPN
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
0.100
Biomarker
phenotype
HPO
SNORD116-1
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 8200
Gene Symbol: GDF5
GDF5
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 1311
Gene Symbol: COMP
COMP
0.100
Biomarker
phenotype
HPO
MAPK8IP3
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id: 9241
Gene Symbol: NOG
NOG
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 4692
Gene Symbol: NDN
NDN
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 650
Gene Symbol: BMP2
BMP2
0.100
Biomarker
phenotype
HPO
×
Entrez Id: 23111
Gene Symbol: SPART
SPART
0.100
Biomarker
phenotype
HPO