×
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:
2548
Gene Symbol:
GAA
GAA
0.100
CausalMutation
phenotype
CLINVAR
c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.
26160551
2015
×
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
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.100
Biomarker
phenotype
HPO
ATP6V1E1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
113189
Gene Symbol:
CHST14
CHST14
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
6678
Gene Symbol:
SPARC
SPARC
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
51204
Gene Symbol:
TACO1
TACO1
0.100
Biomarker
phenotype
HPO