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
|