Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8792
Gene Symbol: TNFRSF11A
TNFRSF11A 		0.420 GeneticVariation disease BEFREE TNFRSF11A mutations have previously been reported in two autosomal dominant diseases (osteolysis, familial expansile and Paget disease of bone 2, early-onset) and an autosomal recessive disease (osteopetrosis, autosomal recessive 7). 29568001 2018
Entrez Id: 8792
Gene Symbol: TNFRSF11A
TNFRSF11A 		0.420 GeneticVariation disease BEFREE Expansile skeletal hyperphosphatasia (ESH) is allelic to FEO and PDB2 and involves a 15-bp tandem duplication in TNFRSF11A. 16831914 2006
Entrez Id: 8792
Gene Symbol: TNFRSF11A
TNFRSF11A 		0.420 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 8792
Gene Symbol: TNFRSF11A
TNFRSF11A 		0.420 CausalMutation disease CLINVAR
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1 		0.100 CausalMutation disease CLINVAR Targeted next-generation sequencing assay for detection of mutations in primary myopathies. 26627873 2016
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1 		0.100 CausalMutation disease CLINVAR SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. 26208961 2015
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1 		0.100 CausalMutation disease CLINVAR Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology. 23417734 2013
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1 		0.100 CausalMutation disease CLINVAR Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations. 17129171 2007
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1 		0.100 CausalMutation disease CLINVAR Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease. 12374763 2002