Myofibrillar myopathy

Disease Term Disease ID Gene Symbol Classification References Source
Myofibrillar Myopathy C2678065 CRYAB Causal Pathogenic evidence from ClinVar 11577372 ClinVar
DES Causal Pathogenic evidence from ClinVar 10545598, 20718792, 30055862 ClinVar
FLNC Causal Pathogenic evidence from ClinVar - ClinVar
KY Causal Pathogenic evidence from ClinVar - ClinVar
LDB3 Causal Pathogenic evidence from ClinVar - ClinVar
MYOT Causal Pathogenic evidence from ClinVar - ClinVar
PYROXD1 Causal Pathogenic evidence from ClinVar - ClinVar
TTN Causal Pathogenic evidence from ClinVar 28716623 ClinVar
ACTA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AKT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BAG3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16936253, 19085932, 20605452, 20884878, 22734908, 25208129, 25728519, 26545904, 27443559 -
CFL2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DNAJB6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FHL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KLHL40 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MATR3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19344878 -
PTEN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TTR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29941560 -
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED C1832370 DES Causal Pathogenic evidence from ClinVar 1544366, 2673923, 9697706, 9736733, 10545598, 10717012, 10905661, 11061256, 11073539, 11668632, 12620971, 12766977, 14648196, 14711882, 14724127, 14991347, 15050448, 15495235, 15800015, 16009553, 16217025, 16376610, 16865695, 16890305, 17221859, 17418574, 17439987, 17720647, 18061454, 18653338, 18765652, 19105189, 19181099, 19587455, 19716701, 19763525, 19879535, 20171226, 20186049, 20423733, 20448486, 20696008, 20718792, 20829228, 21262226, 22106715, 22153487, 22215463, 22275259, 22395865, 22403400, 22484823, 23032110, 23155419, 23349452, 23425003, 23615443, 23687351, 23815709, 25358400, 25394388, 25557463, 26633545, 26789769, 27393313, 27532257, 27733623, 27854218, 28470624, 29212896, 30055862 ClinVar
Filaminopathy, autosomal dominant C1836050 FLNC Causal Pathogenic evidence from ClinVar 9791010, 10658210, 15929027, 16914736, 18055494, 19050726, 20417099, 21520333, 22806379, 22961544, 23109048, 25633252, 26436962, 26472074, 26666891, 27633507, 27908349, 28008423, 29858533 ClinVar
MYOPATHY, MYOFIBRILLAR, 7 C4310711 KY Causal Pathogenic evidence from ClinVar 27484770, 27485408 ClinVar
EPHB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MYOPATHY, MYOFIBRILLAR, 4 C4721886 LDB3 Causal Pathogenic evidence from ClinVar 15668942 ClinVar
Myopathy, Myofibrillar, Zasp-Related C1836155 LDB3 Causal Pathogenic evidence from ClinVar 20809097 ClinVar
MYOPATHY, MYOFIBRILLAR, 3 C3714934 MYOT Causal Pathogenic evidence from ClinVar 3275904, 9027924, 10958653, 12428213, 15111675, 15947064, 16684602, 16793270, 16801328, 19225410, 19590214, 21361873, 21676617, 22349301, 25208129, 26342832, 26842778, 27854214 ClinVar
MYOPATHY, MYOFIBRILLAR, 8 C4310645 PYROXD1 Causal Pathogenic evidence from ClinVar 27745833, 30345904, 30515627, 31455395 ClinVar
Myopathy, Myofibrillar, Bag3-Related C2751831 BAG3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2159883, 19085932, 20605452, 20884878, 21353195, 21361913, 21676617, 21898660, 22734908, 25008357, 25208129, 25273835, 25448463, 25728519, 26545904, 27321750, 27443559, 28211974, 28754666 -