Chromosome number :

1
2
3
4
5
6
7
8
9
X

chromosome
gene symbol
phenotype
11p11.2
MYBPC3
cardiac myosin binding protein-C
Cardiomyopathy, familial hypertrophic, 4 -CMH4
congenital skeletal myopathy and fatal cardiomyopathy -
11p11.2-p11.1
RAPSN
rapsyn
Myasthenic syndrome, congenital -CMS1D
11p13
?
Spinocerebellar ataxia 20 -SCA20
11p13-p12
?
-
11p14.3
ANO5
anoctamin 5
Muscular dystrophy, limb-girdle, type 2L -LGMD2L
11p15
?
Spinocerebellar ataxia, autosomal recessive 7 -SCAR7
11p15.1
CSRP3
Cysteine and glycine-rich protein 3 (cardiac LIM protein)
Cardiomyopathy, dilated, 1M -CMD1M
11p15.4
LDHA
lactate dehydrogenase A
Exertional myoglobinuria due to deficiency of LDH-A -LDHA
11p15.4
SBF2
SET binding factor 2
charcot-marie-tooth disease, type 4b2 -CMT4B2
11p15.5
KCNQ1
potassium voltage-gated channel, KQT-like subfamily, member 1
Long QT syndrome-1 -LQT1
Romano-Ward syndrome -RWS
jervell and lange-nielsen syndrome -JLNS1
Atrial fibrillation, familial, 1 -ATFB1
11p15.5
TNNT3
troponin T3, skeletal
Arthrogryposis, distal, type 2B -DA2B
11p15.5
TNNI2
troponin I, type 2
Arthrogryposis, distal, type 2B -DA2B
11p15.5-p15.4
ILK
integrin-linked kinase
dilated cardiomyopathy due to integrin-linked kinase defect -ILK
11q12-q13.2
PYGM
glycogen phosphorylase
McArdle disease -PYGM
11q12-q13.5
BSCL2
seipin
Spastic paraplegia 17 -SPG17
Neuronopathy, distal hereditary motor, type V -HMN5
11q13
SPTBN2
spectrin, beta, non-erythrocytic 2
Spinocerebellar ataxia 5 -SCA5
11q13
?
spinal muscular atrophy, distal, autosomal recessive, 3 -DSMA3
11q13-q14
KCNE3
Potassium voltage-gated channel, Isk-related family, member 3
Hypokalaemic periodic paralysis, type 3 -hypoKPP3
11q13.2
PHOX2A
paired-like aristaless homeobox protein 2A
Fibrosis of extraocular muscles, congenital, 2 -CFEOM2
11q13.2-q13.4
IGHMBP2
immunoglobulin mu binding protein 2
Spinal muscular atrophy with respiratory distress -SMARD1
11q21
MRE11A
MRE11 meiotic recombination 11 homolog A
ataxia telangiectasia-like disorder -ATLD
11q22
MTMR2
myotubularin-related protein 2
Charcot-Marie-Tooth disease, type 4B1 -CMT4B1
11q22.3
ATM
ataxia telangiectasia mutated
ataxia telangiectasia -AT
11q22.3-q23.1
CRYAB
crystallin, alpha B
Cataract, posterior polar 2 -CRYA2
Myopathy, cardioskeletal, desmin-related, with cataract -CRYAB
Desmin-related myopathy -DRM
11q23-q24
APOA1
apolipoprotein A-I precursor
Amyloidosis, 3 or more types -APOA1
ApoA-I and apoC-III deficiency, combined -APOA1
Corneal clouding, autosomal recessive -APOA1
Hypertriglyceridemia, one form -APOA1
Hypoalphalipoproteinemia -APOA1