Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Reccurrent myoglobinuria, autosomal recessive (9.28)
268200
LPIN1 (2p25.1)
Lipin 1 (phosphatidic acid phosphatase 1)



Recessive congenital myopathy with minicores (3.35, 3.34)
MEGF10 (5q23.2)
Multiple EGF-like-domains 10



Recessive neonatal isolated DC (10.68)
SDHA (5p15)
Succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (M)



Refsum disease, adult (13.95)
266500
PHYH (10q13)
Phytanoyl-CoA 2-hydroxylase



Refsum disease, adult (13.96)
266500
PEX7 (6q21-q22)
Peroxisomal biogenesis factor 7



Restrictive cardiomyopathy, 2 (10.86)
609578
? - (10)
restrictive dermopathy (1.4, 1.26, 1.5, 10.37, 2.17, 14.77)
275210
LMNA (1q22)
Lamin A/C



Rigid spine syndrome (1.3, 5.25, 5.26, 5.27)
602771
FHL1 (Xq26.3)
Four and a half LIM domain 1



Rigid spine syndrome (2.13, 5.12, 3.16, 3.32)
602771
SELENON (1p36.13)
Selenoprotein N1



Rigid spine syndrome related to FHL1 (1.3, 5.25, 5.26, 5.27)
FHL1 (Xq26.3)
Four and a half LIM domain 1



Rigid spine syndrome related to SEPN1 (2.13, 5.12, 3.16, 3.32)
SELENON (1p36.13)
Selenoprotein N1



Rimmed vacuole myopathy (14.57, 12.17, 4.24, 4.26)
HSPB8 (12q24.23)
Heat shock 27kDa protein 8



Rippling muscle disease (1.27, 6.6, 5.24, 6.7, 4.13, 10.132, 10.16)
606072
CAV3 (3p25.3)
Caveolin 3



Rippling muscle disease, dominant (6.5)
600332
? - (1q41)
Romano-Ward syndrome (10.143, 10.123, 10.147, 10.141)
192500
KCNQ1 (11p15.5-p15.4)
Potassium voltage-gated channel, KQT-like subfamily, member 1