Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.500 CausalMutation disease CLINVAR
Entrez Id: 7138
Gene Symbol: TNNT1
TNNT1 		0.500 CausalMutation disease CLINVAR
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41 		0.340 Biomarker disease MGD
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41 		0.340 GeneticVariation disease CLINVAR
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		0.200 Biomarker disease MGD
Entrez Id: 1073
Gene Symbol: CFL2
CFL2 		0.140 CausalMutation disease CLINVAR
Entrez Id: 3679
Gene Symbol: ITGA7
ITGA7 		0.200 Biomarker disease MGD α6β1 and α7β1 integrins are required in Schwann cells to sort axons. 24227711 2013
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.400 GeneticVariation disease BEFREE 20-25% of NM cases carry ACTA1 defects and these particular mutations usually induce substitutions of single residues in the actin protein. 22358459 2012
Entrez Id: 4703
Gene Symbol: NEB
NEB 		0.500 GeneticVariation disease BEFREE Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. 15221447 2004
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.400 GeneticVariation disease LHGDN Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H). 18461503 2007
Entrez Id: 4703
Gene Symbol: NEB
NEB 		0.500 GeneticVariation disease BEFREE Nemaline myopathy (NM) is the most common congenital myopathy and is caused by mutations in various genes including NEB (nebulin), TPM2 (beta-tropomyosin), TPM3 (gamma-tropomyosin), and ACTA1 (skeletal alpha-actin). 22358459 2012
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.400 GeneticVariation disease BEFREE Nemaline myopathy (NM) is the most common congenital myopathy and is caused by mutations in various genes including NEB (nebulin), TPM2 (beta-tropomyosin), TPM3 (gamma-tropomyosin), and ACTA1 (skeletal alpha-actin). 22358459 2012
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.500 GeneticVariation disease BEFREE Nemaline myopathy (NM) is the most common congenital myopathy and is caused by mutations in various genes including NEB (nebulin), TPM2 (beta-tropomyosin), TPM3 (gamma-tropomyosin), and ACTA1 (skeletal alpha-actin). 22358459 2012
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.100 GeneticVariation disease BEFREE Nemaline myopathy (NM) is the most common congenital myopathy and is caused by mutations in various genes including NEB (nebulin), TPM2 (beta-tropomyosin), TPM3 (gamma-tropomyosin), and ACTA1 (skeletal alpha-actin). 22358459 2012
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.400 GeneticVariation disease BEFREE Nemaline myopathy is the most common congenital myopathy and is caused by mutations in various genes such as ACTA1 (encoding skeletal α-actin). 23656990 2013
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.100 GeneticVariation disease BEFREE Nemaline myopathy is the most common congenital myopathy and is caused by mutations in various genes such as ACTA1 (encoding skeletal α-actin). 23656990 2013
Entrez Id: 131377
Gene Symbol: KLHL40
KLHL40 		0.070 GeneticVariation disease BEFREE Nemaline myopathy with KLHL40 mutation presenting as congenital totally locked-in state. 25721947 2015
Entrez Id: 4703
Gene Symbol: NEB
NEB 		0.500 GeneticVariation disease BEFREE Nemaline myopathy due to NEB mutation(s) leads to FADS/AMC. 27933661 2017
Entrez Id: 4703
Gene Symbol: NEB
NEB 		0.500 GeneticVariation disease BEFREE Nemaline myopathy (NEM) is a congenital neuromuscular disorder primarily caused by nebulin gene (NEB) mutations. 31721788 2019
Entrez Id: 4703
Gene Symbol: NEB
NEB 		0.500 AlteredExpression disease BEFREE Nebulin is normally expressed in nemaline myopathy. 10334479 1999
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.500 GeneticVariation disease BEFREE TPM3 mutations are a rare cause of NM, probably accounting for less than 3% of cases. 12196661 2002
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.500 GeneticVariation disease LHGDN TPM3 mutations are a rare cause of NM, probably accounting for less than 3% of cases. 12196661 2002
Entrez Id: 7138
Gene Symbol: TNNT1
TNNT1 		0.500 Biomarker disease BEFREE TNNT1 nemaline myopathy: natural history and therapeutic frontier. 29931346 2018
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.400 GeneticVariation disease BEFREE A considerable number of missense mutations in the sarcomeric actin gene ACTA1 have been discovered in patients with nemaline myopathy and also in a few patients without myopathological evidence of nemaline bodies in biopsied skeletal muscle fibres. 11001821 2000
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.400 GeneticVariation disease BEFREE A de novo dominant mutation in ACTA1 causing congenital nemaline myopathy associated with a milder phenotype: expanding the spectrum of dominant ACTA1 mutations. 23305948 2013