Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		0.100 GeneticVariation disease CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.100 Biomarker disease HPO
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41 		0.100 Biomarker disease HPO
Entrez Id: 57104
Gene Symbol: PNPLA2
PNPLA2 		0.100 Biomarker disease HPO
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		0.100 Biomarker disease HPO
Entrez Id: 84665
Gene Symbol: MYPN
MYPN 		0.100 Biomarker disease HPO
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6 		0.100 Biomarker disease HPO
Entrez Id: 57410
Gene Symbol: SCYL1
SCYL1 		0.100 Biomarker disease HPO
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.100 Biomarker disease HPO
Entrez Id: 390594
Gene Symbol: KBTBD13
KBTBD13 		0.100 Biomarker disease HPO
Entrez Id: 23592
Gene Symbol: LEMD3
LEMD3 		0.100 Biomarker disease HPO
Entrez Id: 51067
Gene Symbol: YARS2
YARS2 		0.100 Biomarker disease HPO
Entrez Id: 80324
Gene Symbol: PUS1
PUS1 		0.100 Biomarker disease HPO
Entrez Id: 4703
Gene Symbol: NEB
NEB 		0.100 Biomarker disease HPO
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.100 Biomarker disease HPO
Entrez Id: 55157
Gene Symbol: DARS2
DARS2 		0.100 Biomarker disease HPO
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.100 Biomarker disease HPO
Entrez Id: 6444
Gene Symbol: SGCD
SGCD 		0.100 Biomarker disease HPO
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		0.100 Biomarker disease HPO
Entrez Id: 100288687
Gene Symbol: DUX4
DUX4 		0.010 AlteredExpression disease BEFREE Yet, how sporadic DUX4 expression leads to the generalized muscle wasting remains unclear. 30445587 2019