×
Entrez Id:
1291
Gene Symbol:
COL6A1
COL6A1
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
79152
Gene Symbol:
FA2H
FA2H
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
1778
Gene Symbol:
DYNC1H1
DYNC1H1
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
116931
Gene Symbol:
MED12L
MED12L
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
31155615
2019
×
Entrez Id:
5081
Gene Symbol:
PAX7
PAX7
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.
31092906
2019
×
Entrez Id:
9969
Gene Symbol:
MED13
MED13
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
29740699
2018
×
Entrez Id:
6095
Gene Symbol:
RORA
RORA
0.100
Biomarker
phenotype
HPO
ALDH18A1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
85365
Gene Symbol:
ALG2
ALG2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
1134
Gene Symbol:
CHRNA1
CHRNA1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
84668
Gene Symbol:
FAM126A
FAM126A
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
50651
Gene Symbol:
SLC45A1
SLC45A1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
55750
Gene Symbol:
AGK
AGK
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
56203
Gene Symbol:
LMOD3
LMOD3
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
8450
Gene Symbol:
CUL4B
CUL4B
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
85476
Gene Symbol:
GFM1
GFM1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
3653
Gene Symbol:
IPW
IPW
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
6261
Gene Symbol:
RYR1
RYR1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
10290
Gene Symbol:
SPEG
SPEG
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
2673
Gene Symbol:
GFPT1
GFPT1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
3630
Gene Symbol:
INS
INS
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
9325
Gene Symbol:
TRIP4
TRIP4
0.100
Biomarker
phenotype
HPO