Gene product table

A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z

Protein
Gene Symbol
All allelic disease phenotypes - locus/disease symbols
maspardin
SPG21 (15q21-q22)

* Spastic paraplegia 20 - SPG21 (15.26)
matrin 3
MATR3 (5q31)

* Myopathy, distal 2 - MPD2 (4.5)
mediator complex subunit 25
MED25 (19q13)

* Charcot-Marie-Tooth disease, type 2B2 - CMT2B2 (14.52)
member RAS oncogene family
RAB7 (3q21)

* Charcot-Marie-Tooth neuropathy Type 2B - CMT2B (14.37)
microsomal triglyceride transfer protein
MTTP (4q23)

* abetalipoproteinemia - ABL (13.57)
mitochondrial carrier; adenine nucleotide translocator
SLC25A4 (4q35)

* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2 (16.17)
mitochondrial DNA polymerase, accessory subunit
POLG2 (17q24.1)

* progressive external ophthalmoplegia, autosomal dominant, 4 - PEOA4 (16.19)
mitochondrial dynamin-like GTPase
OPA1 (3q28-q29)

* optic atrophy 1 and deafness - (16.24)
mitochondrial ribosomal protein L3
MRPL3 (3q21-q23)

* Hypertrophic mitochondrial cardiomyopathy with MRPL3 defect - (10.25)
mitofusin 2
MFN2 (1p36.22)

* Hereditary motor and sensory neuropathy 2A - CMT2A (14.36)
MRE11 meiotic recombination 11 homolog A
MRE11A (11q21)

* ataxia telangiectasia-like disorder - ATLD (13.53)
muscle-related coiled-coil protein
MURC (9q11.1)

* Dilated cardiomyopathy with MURC defect - (10.65)
myelin protein zero
MPZ (1q22)

* Charcot-Marie-Tooth disease, type 1B - CMT1B (14.2, 14.14, 14.21, 14.32, 14.44, 14.45)
* Dejerine-Sottas syndrome - DSSA (14.2, 14.14, 14.21, 14.32, 14.44, 14.45)
* Neuropathy, congenital hypomyelinating - CMT4E (14.2, 14.14, 14.21, 14.32, 14.44, 14.45)
* Charcot-Marie-Tooth disease, type 2I - CMT2I (14.2, 14.14, 14.21, 14.32, 14.44, 14.45)
* Charcot-Marie-Tooth disease, type 2J - CMT2J (14.2, 14.14, 14.21, 14.32, 14.44, 14.45)
* Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID (14.2, 14.14, 14.21, 14.32, 14.44, 14.45)
myopalladin
MYPN (10q21.1)

* Dilated cardiomyopathy due to myopalladin defect - (10.58)
myosin heavy chain 6
MYH6 (14q12)

* Cardiomyopathy, familial hypertrophic 1 - CMH1 (10.1, 10.13, 10.62)
* Familial hypertrophic cardiomyopathy, 14 - CMH14 (10.1, 10.13, 10.62)
* Cardiomyopathy, dilated, 1EE - CMD1EE (10.1, 10.13, 10.62)
Myosin heavy chain, 8, skeletal muscle, perinatal
MYH8 (17p13)

* Myosin, heavy chain, perinatal - MYH8 (16.15)
myosin light chain 2
MYL2 (12q23-q24.3)

* Cardiomyopathy, hypertrophic, mid-left ventricular chamber type - MYL2 (10.9)
* Cardiomyopathy, familial hypertrophic, 10 - CMH10 (10.9)
myosin light chain 3
MYL3 (3p21.3-p21.2)

* Cardiomopathy, hypertrophic, mid-ventricular chamber type - MYL3 (10.7)
myosin light chain kinase 2
MYLK2 (20q13.31)

* cardiomyopathy, familial hypertrophic - CMH (10.15)
myosin, heavy polypeptide 2, skeletal muscle
MYH2 (17p13.1)

* Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles - IBM3 (3.25, 3.26)
myosin, heavy polypeptide 7, cardiac muscle, beta
MYH7 (14q12)

* Myopathy, distal 1 - MPD1 (3.13, 3.23, 3.24, 4.4, 10.1, 10.45)
* cardiomyopathy, familial hypertrophic, 1, included - CMH1 (3.13, 3.23, 3.24, 4.4, 10.1, 10.45)
* myopathy, congenital, with fiber-type disproportion - CFTD (3.13, 3.23, 3.24, 4.4, 10.1, 10.45)
* Myosin storage myopathy - (3.13, 3.23, 3.24, 4.4, 10.1, 10.45)
* Cardiomyopathy, dilated, 1S - CMD1S (3.13, 3.23, 3.24, 4.4, 10.1, 10.45)
myosine, heavy chain 3, skeletal muscle, embryonic
MYH3 (17p13)

* Arthrogryposis, distal, type 2A - DA2A (16.9, 16.12)
* Arthrogryposis, distal, type 2B - DA2B (16.9, 16.12)
myostatin, muscular hypertrophy
GDF8 (2Q32)

* Muscle hypertrophy - MSLHP (5.15)
myotilin
MYOT (5q31)

* Muscular dystrophy, Limb-Girdle, type 1A - LGMD1A (1.11, 4.9, 5.6, 5.7)
* Spheroid body myopathy - (1.11, 4.9, 5.6, 5.7)
* Myofibrillar myopathy, myotilin related - MFM3 (1.11, 4.9, 5.6, 5.7)
myotonic dystrophy protein kinase
DMPK (19q13.3)

* Steinert disease - DM1 (6.1)
* Myotonic dystrophy 1 - DM1 (6.1)
* Dystrophia myotonica - DM (6.1)
myotubularin
MTM1 (Xq28)

* Myotubular myopathy, X-linked - MTM1 (3.14)
myotubularin-related protein 2
MTMR2 (11q22)

* Charcot-Marie-Tooth disease, type 4B1 - CMT4B1 (14.16)
myozenin 2, or calsarcin 1, a Z disk protein
MYOZ2 (4q26)

* Hypertrophic cardiomyopathy with myozenin 2 defect - (10.18)
* Cardiomyopathy, familial hypertrophic, 16 - CMH16 - CMH16 (10.18)