Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
0.100 CausalMutation phenotype CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
0.100 CausalMutation phenotype CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309 2012
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
0.100 Biomarker phenotype HPO
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
0.100 Biomarker phenotype HPO
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
0.100 Biomarker phenotype HPO
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
0.100 Biomarker phenotype HPO
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
0.100 Biomarker phenotype HPO
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.100 Biomarker phenotype HPO
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
0.100 Biomarker phenotype HPO
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
0.100 Biomarker phenotype HPO
Entrez Id: 18
Gene Symbol: ABAT
ABAT
0.100 Biomarker phenotype HPO
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
0.100 Biomarker phenotype HPO