Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		0.710 Biomarker disease CTD_human
Entrez Id: 148789
Gene Symbol: B3GALNT2
B3GALNT2 		0.300 Biomarker disease CTD_human
Entrez Id: 84197
Gene Symbol: POMK
POMK 		0.300 Biomarker disease CTD_human
Entrez Id: 2218
Gene Symbol: FKTN
FKTN 		0.300 Biomarker disease CTD_human
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		0.300 Biomarker disease CTD_human
Entrez Id: 10329
Gene Symbol: RXYLT1
RXYLT1 		0.300 Biomarker disease CTD_human
Entrez Id: 1605
Gene Symbol: DAG1
DAG1 		0.300 Biomarker disease CTD_human
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		0.300 Biomarker disease CTD_human
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		0.300 Biomarker disease CTD_human
Entrez Id: 84892
Gene Symbol: POMGNT2
POMGNT2 		0.300 Biomarker disease CTD_human
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		0.300 Biomarker disease CTD_human
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		0.300 Biomarker disease CTD_human
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1 		0.300 Biomarker disease CTD_human
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		0.710 GeneticVariation disease CLINVAR Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. 12369018 2002
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		0.710 CausalMutation disease CLINVAR Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. 12369018 2002
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		0.710 Biomarker disease GENOMICS_ENGLAND A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan. 14678799 2003
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		0.710 CausalMutation disease CLINVAR Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. 15637732 2005
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		0.710 GeneticVariation disease UNIPROT An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. 15792865 2005
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		0.710 GeneticVariation disease CLINVAR Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. 15637732 2005
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		0.710 GeneticVariation disease CLINVAR The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. 16575835 2006
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		0.710 CausalMutation disease CLINVAR The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. 16575835 2006
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		0.710 GeneticVariation disease BEFREE Mutations in POMT1 have been identified in Walker-Warburg syndrome and in patients with limb-girdle muscular dystrophy and mental retardation (LGMD2K). 16717220 2006
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		0.710 GeneticVariation disease CLINVAR Expanding the clinical spectrum of POMT1 phenotype. 16717220 2006
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		0.710 GeneticVariation disease CLINVAR Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 17878207 2007
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		0.710 CausalMutation disease CLINVAR Molecular heterogeneity in fetal forms of type II lissencephaly. 17559086 2007