Chromosome number :

1
2
3
4
5
6
7
8
9
X

chromosome
gene symbol
phenotype
3p12
GBE1
glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV)
Glycogen branching enzyme deficiency -GSD IV
3p21
DAG1
Dystroglycan1 (dystrophin-associated glycoprotein 1)
Muscular dystrophy-dystroglycanopathy (limb-girdle) -MDDGC7
3p21
SCN5A
voltage-gated sodium channel type V alpha
Progressive familial heart block, type I -PFHBI
Hereditary bundle branch system defect -HBBD
Cardiac conduction defect, progressive -PCCD
Brugada syndrome -SCN5A
Cardiomyopathy, dilated, 1E -CMD1E
Ventricular fibrillation, idiopathic -IVF
Ventricular fibrillation, paroxysmal familial -VF
Long QT syndrome-3 -LQT3
Sick Sinus Syndrome 1, autosomal recessive -SSS1
3p21
LAMB2
laminin, beta 2 (laminin S)
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficien -
3p21.1-p12
ATXN7
ataxin 7
Spinocerebellar ataxia 7 -SCA7
Olivopontocerebellar atrophy III -OPCA3
3p21.3-p14.3
TNNC1
slow troponin C
Cardiomyopathy, dilated, 1Z -CMD1Z
Familial hypertrophic cardiomyopathy, 13 -CMH13
3p21.3-p21.2
MYL3
myosin light chain 3
Cardiomopathy, hypertrophic, mid-ventricular chamber type -MYL3
3p21.31
SLC25A20
carnitine-acylcarnitine translocase
Carnitine-acylcarnitine translocase deficiency -CACT
3p22.2-p21.32
?
Hyalin body myopathy -HBM
3p22.3
GPD1L
glycerol-3-phosphate dehydrogenase 1-like
brugada syndrome 2 -
3p23-21
?
Congenital muscle dystrophy with joint hyperlaxity -
3p23-p25
?
Limb-girdle, muscular dystrophy, type 1h -LGMD1H
3p24-p22
?
hereditary sensory and autonomic neuropathy type ib with cough and gastroesophag -HSAN1B
3p25
CAV3
caveolin 3
Distal myopathy with caveolin defect -
Long QT syndrome 9 -LQT9
Hyperckemia, idiopathic -
Creatine phosphokinase, elevated serum -CPK
cardiomyopathy, familial hypertrophic -CMH
Rippling muscle disease -RMD2
Muscular dystrophy, limb-girdle, type IC -LGMD1C
3p25
COLQ
acetylcholinesterase collagen-like tail subunit
Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency -EAD
3p25.1
TMEM43
transmembrane protein 43
luma related muscular dystrophy -
arrhythmogenic right ventricular dysplasia, familial, 5 -ARVD5
3p25.3-p24.3
ABHD5
abhydrolase domain containing 5
Chanarin-Dorfman syndrome -CDS
3p26
?
Cerebellar ataxia, congenital, nonprogressive, autosomal dominant -SCA29
3p26.1-p25.3
ITPR1
Inositol 1,4,5-triphosphate receptor type 1
Spinocerebellar ataxia 15 -SCA15
3q13.1
?
Hereditary motor and sensory, neuropathy, proximal, type -HMSNP
Neuropathy, hereditary motor and sensory, Okinawa type -HMSNO
3q13.1
?
Malignant hyperthermia susceptibility 4 -MHS4
3q21
RAB7
member RAS oncogene family
Charcot-Marie-Tooth neuropathy Type 2B -CMT2B
3q21
ZNF9
zinc finger protein 9
Proximal myotonic myopathy -PROMM
Myotonic dystrophy, type 2 -DM2
3q21-q23
MRPL3
mitochondrial ribosomal protein L3
Hypertrophic mitochondrial cardiomyopathy with MRPL3 defect -
3q24
GYG1
Glycogen storage disease XV -GSD15
3q25.3
SLC33A1
acetyl-Coenzyme A transporter
acetyl-Coenzyme A transportersolute carrier family 33 (acetyl- CoA transporter)
Spastic paraplegia 42, autosomal dominant -SPG42
3q27-q28
?
Spastic paraplegia 14 -SPG14
3q28-q29
OPA1
mitochondrial dynamin-like GTPase
optic atrophy 1 and deafness -