Source: ALL
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: 84197
Gene Symbol: POMK
POMK 		0.100 Biomarker phenotype HPO
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		0.100 Biomarker phenotype HPO
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		0.100 Biomarker phenotype HPO
Entrez Id: 6310
Gene Symbol: ATXN1
ATXN1 		0.100 Biomarker phenotype HPO
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3 		0.100 Biomarker phenotype HPO
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		0.100 Biomarker phenotype HPO
Entrez Id: 8573
Gene Symbol: CASK
CASK 		0.100 Biomarker phenotype HPO
Entrez Id: 4361
Gene Symbol: MRE11
MRE11 		0.100 Biomarker phenotype HPO
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.100 Biomarker phenotype HPO
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1 		0.100 Biomarker phenotype HPO
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		0.100 Biomarker phenotype HPO
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		0.100 Biomarker phenotype HPO