Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
Entrez Id: 5832
Gene Symbol: ALDH18A1
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
Entrez Id: 529
Gene Symbol: ATP6V1E1
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