Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 274
Gene Symbol: BIN1
BIN1 		0.530 GeneticVariation disease BEFREE Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly progressive muscle disorder typically showing abnormal nuclear centralization on biopsies. 23754947 2013
Entrez Id: 274
Gene Symbol: BIN1
BIN1 		0.530 GeneticVariation disease BEFREE We provide an up-to-date review of all previous cases with ARCNM and BIN1 mutations. 21129173 2010
Entrez Id: 274
Gene Symbol: BIN1
BIN1 		0.530 Biomarker disease CTD_human Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. 17676042 2007
Entrez Id: 274
Gene Symbol: BIN1
BIN1 		0.530 GeneticVariation disease BEFREE Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. 17676042 2007
Entrez Id: 274
Gene Symbol: BIN1
BIN1 		0.530 GermlineCausalMutation disease ORPHANET Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. 17676042 2007
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.500 GermlineCausalMutation disease ORPHANET RYR1 mutations are a common cause of congenital myopathies with central nuclei. 20839240 2010
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.500 Biomarker disease CTD_human Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. 17376685 2007
Entrez Id: 1785
Gene Symbol: DNM2
DNM2 		0.310 Biomarker disease CTD_human Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. 17376685 2007
Entrez Id: 1785
Gene Symbol: DNM2
DNM2 		0.310 Biomarker disease BEFREE Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. 17676042 2007
Entrez Id: 10290
Gene Symbol: SPEG
SPEG 		0.300 GermlineCausalMutation disease ORPHANET SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. 25087613 2014
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.300 GermlineCausalMutation disease ORPHANET Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875 2013
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		0.300 Biomarker disease CTD_human Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. 17376685 2007
Entrez Id: 124093
Gene Symbol: CCDC78
CCDC78 		0.300 Biomarker disease CTD_human
Entrez Id: 64419
Gene Symbol: MTMR14
MTMR14 		0.300 Biomarker disease CTD_human
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.300 Biomarker disease CTD_human
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		0.300 Biomarker disease CTD_human
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.300 Biomarker disease CTD_human
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.300 Biomarker disease CTD_human
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		0.300 Biomarker disease CTD_human
Entrez Id: 84876
Gene Symbol: ORAI1
ORAI1 		0.300 Biomarker disease CTD_human
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.300 Biomarker disease CTD_human
Entrez Id: 273
Gene Symbol: AMPH
AMPH 		0.020 GeneticVariation disease BEFREE Autosomal recessive centronuclear myopathy (ARCNM) is less characterized and has recently been associated to mutations in BIN1, encoding amphiphysin 2. 21129173 2010
Entrez Id: 273
Gene Symbol: AMPH
AMPH 		0.020 GeneticVariation disease BEFREE Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. 17676042 2007