×
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:
3558
Gene Symbol:
IL2
IL2
0.010
GeneticVariation
phenotype
BEFREE
A mutation in the IL-2 receptor gamma chain gene associated with X-linked severe combined immunodeficiency accompanying opisthotonus .
19398866
2009
×
Entrez Id:
64087
Gene Symbol:
MCCC2
MCCC2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
132158
Gene Symbol:
GLYCTK
GLYCTK
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
55275
Gene Symbol:
VPS53
VPS53
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
5805
Gene Symbol:
PTS
PTS
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4976
Gene Symbol:
OPA1
OPA1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
1727
Gene Symbol:
CYB5R3
CYB5R3
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
9244
Gene Symbol:
CRLF1
CRLF1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
158
Gene Symbol:
ADSL
ADSL
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
80025
Gene Symbol:
PANK2
PANK2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
79587
Gene Symbol:
CARS2
CARS2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
26227
Gene Symbol:
PHGDH
PHGDH
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
443
Gene Symbol:
ASPA
ASPA
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
2639
Gene Symbol:
GCDH
GCDH
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
3251
Gene Symbol:
HPRT1
HPRT1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
54820
Gene Symbol:
NDE1
NDE1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4338
Gene Symbol:
MOCS2
MOCS2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
29968
Gene Symbol:
PSAT1
PSAT1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4337
Gene Symbol:
MOCS1
MOCS1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
80746
Gene Symbol:
TSEN2
TSEN2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
440138
Gene Symbol:
ALG11
ALG11
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
283989
Gene Symbol:
TSEN54
TSEN54
0.100
Biomarker
phenotype
HPO