Gene product table



Protein
Gene Symbol
All allelic disease phenotypes - locus/disease symbols
Paired Box gene 7
PAX7 (1p36.13)


* Congenital Myopathy related to PAX7 - (3.58)
Paired-like aristaless homeobox protein 2A
PHOX2A (11q13.2)


* Fibrosis of extraocular muscles, congenital, 2 - CFEOM2 (16.6)
Paraplegin(M)
SPG7 (16q24.3)


* Spastic paraplegia 7 - SPG7 (15.24)
Patatin-like phospholipase domain containing 6
PNPLA6 (19p13.3-p13.2)


* Spastic paraplegia 39, autosomal recessive - SPG39 (15.41)
Patatin-like phospholipase domain containing 8(M)
PNPLA8 (7q31.1)


* Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy - MMLA (9.29)
Peptidyl-tRNA Hydrolase 2
PTRH2 (17q23.1)


* Infantile-onset multisystem disease with progressive muscle weakness - IMNEPD (16.68)
Periaxin
PRX (19q13)


* Charcot-Marie-Tooth disease, type 4F - CMT4F (14.29, 14.45)
* Dejerine-Sottas neuropathy, autosomal recessive - CMT4F (14.29, 14.45)
Peripheral myelin protein 22
PMP22 (17p12-p11.2)


* Charcot-Marie-Tooth disease, type 1A - CMT1A (14.1, 14.5, 14.6, 14.42)
* Charcot-Marie-Tooth disease, type 1E - CMT1E (14.1, 14.5, 14.6, 14.42)
* Dejerine-Sottas Syndrome - DSSB (14.1, 14.5, 14.6, 14.42)
* Neuropathy, recurrent, with pressure palsies - HNPP (14.1, 14.5, 14.6, 14.42)
peripheral myelin protein-2
PMP2 (8q21.13)


* Charcot-Marie Tooth disease, demyelinating type 1G - CMT1G (14.8)
Peripherin
PRPH (12q13.12)


* Susceptibility to amyotrophic lateral sclerosis related to peripherin - (12.70)
Perlecan
HSPG2 (1p36.1-p34)


* Dyssegmental dysplasia, Silverman-Handmaker type - DDSH (6.8)
* Schwartz-Jampel syndrome, type 1 - SJS1 (6.8)
Peroxisomal biogenesis factor 7
PEX7 (6q21-q22)


* Refsum disease, adult - RD (13.92)
Phenylalanine-tRNA synthetase 2(M)
FARS2 (6p25.1)


* Spastic paraplegia 77, autosomal recessive - SPG77 (15.65)
Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
PIP5K1C (19p13.3)

* Lethal congenital contractural syndrome 3 - LCCS3 (12.78)
Phosphofructokinase, muscle
PFKM (12q13.3)


* Glycogen storage disease VII - PFKM (9.5)
Phosphoglucomutase 1
PGM1 (1p31)


* Glycogen storage disease XIV - GSD14 (9.7)
Phosphoglycerate kinase 1
PGK1 (Xq13)


* posphoglycerate kinase deficiency - (9.13)
Phosphoglycerate mutase 2 (muscle)
PGAM2 (7p13-p12)


* Myopathy due to phosphoglycerate mutase deficiency - PGAMM (9.14)
* Glycogen storage disease X - GSD10 (9.14)
Phospholamban
PLN (6q22.1)


* Hypertrophic cardiomyopathy related to phospholamban - (10.19, 10.51)
* Cardiomyopathy, familial hypertrophic, 18 - CMH18 (10.19, 10.51)
* Cardiomyopathy, dilated, 1P - CMD1P (10.19, 10.51)
Phospholipase D family, member 3
PLD3 (19q13.2)


* Spinocerebellar ataxia 46 - SCA46 (13.42)
Phosphoribosyl pyrophosphate synthetase 1
PRPS1 (Xq21.32-q24)


* charcot-marie-tooth disease, x-linked recessive, 5 - CMTX5 (14.40)
Phosphorylase b kinase, alpha submit
PHKA1 (Xq13)


* glycogen storage disease, type IXD - GSD9D (9.6)
Phytanoyl-CoA 2-hydroxylase
PHYH (10q13)


* Refsum disease, adult - RD (13.91)
Piezo-type mechanosensitive ion channel component 2
PIEZO2 (18p11.22-p11.21)


* Arthrogryposis, distal, type 5 - DA5 (16.16, 16.17)
* Arthrogryposis, distal, type 3 - DA3 (16.16, 16.17)
Plakophilin 2
PKP2 (12p11.21)


* Arrhythmogenic right ventricular dysplasia, 9 - ARDV9 (10.110)
Pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLEKHG5 (1p36)


* spinal muscular atrophy, distal, autosomal recessive, 4 - DSMA4 (12.8, 14.83)
* Axonal neuropathy intermediate recessive C - CMTRIC (12.8, 14.83)
Plectin
PLEC (8q24.3)


* Myasthenic syndrome, with plectin defect - (1.41, 1.58, 5.21, 11.34)
* Limb girdle muscular dystrophy with ophthalmoplegia - (1.41, 1.58, 5.21, 11.34)
* Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - MDEBS (1.41, 1.58, 5.21, 11.34)
* Limb-girdle, muscular dystrophy, type 2q - LGMD2Q (1.41, 1.58, 5.21, 11.34)
Poly(A) binding protein, nuclear 1
PABPN1 (14q11.2-q13)


* Oculopharyngeal muscular dystorphy - OPMD (5.18)
Polymerase (DNA directed), gamma(M)
POLG (15q25)


* Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEOA1 (13.86, 16.33, 16.39, 16.47, 16.48)
* Mitochondrial DNA depletion syndrome 4A (Alpers type) - MTDPS4A (13.86, 16.33, 16.39, 16.47, 16.48)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 - PEOB1 (13.86, 16.33, 16.39, 16.47, 16.48)
* Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - SANDO (13.86, 16.33, 16.39, 16.47, 16.48)
* spinocerebellar ataxia with epilepsy, included - SCAE (13.86, 16.33, 16.39, 16.47, 16.48)
* Mitochondrial DNA depletion syndrome 4B (MNGIE type) - MTDPS4B (13.86, 16.33, 16.39, 16.47, 16.48)
polynucleotide kinase 3’-phosphatase
PNKP (19q13.33)


* Early-onset axonal Charcot-Marie-Tooth with ataxia - (14.77, 14.89)
* Charcot-Marie-Tooth disease, type 2B2 - CMT2B2 (14.77, 14.89)
Popeye domain-containing protein 3
POPDC3 (6q21)


* LGMDR26 - LGMDR26 (1.52)
Potassium channel, inwardly rectifying, dubfamily J, member 2
KCNJ2 (17q24.3)


* Long QT syndrome-7 - LQT7 (10.129, 10.141, 10.152)
* Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom - ATS (10.129, 10.141, 10.152)
* Atrial fibrillation, 9 - ATFB9 (10.129, 10.141, 10.152)
Potassium chloride cotransporter KCC3
SLC12A6 (15q13-q15)


* Agenesis of the corpus callosum with peripheral neuropathy - ACCPN (14.116)
* Charlevoix disease - SLC12A6 (14.116)
* Andermann syndrome - SLC12A6 (14.116)
Potassium inwardly-rectifying channel, subfamily J, member 5
KCNJ5 (11 q24.3)


* Long QT syndrome 13 - LQT13 (10.135)
Potassium voltage-gated channel, Isk-related family, member 1
KCNE1 (21q22.12)


* Long QT syndrome-5 - LQT5 (10.127, 10.143)
* Jervell and Lange-Nielsen cardio-auditory syndrome - JLNS2 (10.127, 10.143)
Potassium voltage-gated channel, Isk-related family, member 2
KCNE2 (21q22.12)


* Long QT syndrome-6 - LQT6 (10.128, 10.147)
* Atrial fibrillation, 4 - ATFB4 (10.128, 10.147)
Potassium voltage-gated channel, Isk-related family, member 3
KCNE3 (11q13.4)


* Hypokalaemic periodic paralysis - HOKPP (7.11, 10.168)
* Brugada syndrome 6 - BRGDA6 (7.11, 10.168)
Potassium voltage-gated channel, KQT-like subfamily, member 1
KCNQ1 (11p15.5-p15.4)


* Long QT syndrome-1 - LQT1 (10.123, 10.140, 10.142, 10.146)
* Romano-Ward syndrome - RWS (10.123, 10.140, 10.142, 10.146)
* jervell and lange-nielsen syndrome - JLNS1 (10.123, 10.140, 10.142, 10.146)
* Atrial fibrillation, 3 - ATFB3 (10.123, 10.140, 10.142, 10.146)
Potassium voltage-gated channel, shaker-related subfamily, member 1
KCNA1 (12p13)


* Episodic ataxia with myokymia - EA1 (7.12)
Potassium voltage-gated channel, shaker-related subfamily, member 5
KCNA5 (12p13.32)


* atrial fibrillation, familial - ATFB7 (10.150)
Potassium voltage-gated channel, Shal-related subfamily, member 3
KCND3 (1p13.2)


* Spinocerebellar ataxia 19 - SCA19 (10.171, 13.17)
* Brugada syndrome 9 - BRGDA9 (10.171, 13.17)
Potassium voltage-gated channel, Shaw-related subfamily, member 3
KCNC3 (19q13.33)


* Spinocerebellar ataxia 13 - SCA13 (13.12)
PR Domain-Containing Protein 16
PRDM16 (1p36.32)


* Dilated cardiomyopathy related to PRDM16 - CMD1LL (10.73, 10.99)
* LEFT VENTRICULAR NONCOMPACTION 8 - LVNC8 (10.73, 10.99)
* Left ventricular noncompaction 8 - LVNC8 (10.73, 10.99)
PR/SET domain 12 (positive regulatory domain zinc finger protein 12)
PRDM12 (9q34.12)


* Hereditary sensory and autonomic neuropathy type VIII - HSAN8 (14.105)
Presenilin 1
PSEN1 (14q24.2)


* Cardiomyopathy, dilated, 1U - CMD1U (10.56)
Presenilin 2
PSEN2 (1q42.13)


* Cardiomyopathy, dilated, 1W - CMD1V (10.57)
Prodynorphin
PDYN (20p13-p12-3)


* Spinocerebellar ataxia 23 - SCA23 (13.21)
Profilin 1
PFN1 (17p13.2)


* Amyotrophic lateral sclerosis 18 - ALS18 (12.61)
Proloferating cell nuclear antigen
PCNA (20p12.3)


* Ataxia telangiectasia-like disorder 2 - ATLD2 (13.89)
Prolyl endopeptidase-like
PREPL (2p21)


* Myasthenic syndrome, congenital, 22 - CMS22 (11.28)
Protein kinase C, gamma
PRKCG (19q13.42)


* Spinocerebellar ataxia 14 - SCA14 (13.13)
Protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRKAG2 (7q31)


* glycogen storage disease of heart, lethal congenital - (9.10, 10.5)
* Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome - CMH6 (9.10, 10.5)
Protein O-Glucosyltransferase 1
POGLUT1 (3q13.33)


* Limb-Girdle, Muscular dystrophy, type 2Z - LGMD2Z (1.45)
protein O-linked mannose N-acetylglucosaminyltransferase 2
POMGNT2 (3p22.1)


* Walker-Warburg syndrome - WWS (1.50, 2.25)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, - MDDGA8 (1.50, 2.25)
* LGMDR24 - (1.50, 2.25)
Protein phosphatase 2 regulatory subunit B, beta isoform
PPP2R2B (5q32)


* Spinocerebellar ataxia 12 - SCA12 (13.11)
Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase
HACD1 (10p12.33)


* Congenital myopathy related to PTPLA - (3.47, 10.108)
* Arrhythmogenic right ventricular dysplasia, familial, 6 - ARVD6 (3.47, 10.108)
* Arrhythmogenic right ventricular cardiomyopathy 6 - ARVC6 (3.47, 10.108)
Protein-O-mannose kinase
POMK (8p11.21)

* Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 - MDDGA12 (1.61, 2.41)
* Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C12 - MDDGC12 (1.61, 2.41)
Protein-O-mannosyltransferase 1
POMT1 (9q34.1)


* Walker-Warburg syndrome - WWS (1.35, 2.20, 2.32)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA1 (1.35, 2.20, 2.32)
* Muscular dystrophy-dystrooglycanopathy (congenital with mental retardation), type B1 - MDDGB1 (1.35, 2.20, 2.32)
* Muscular dystrophy, Limb-Girdle, type 2K - LGMD2K (1.35, 2.20, 2.32)
Protein-O-mannosyltransferase 2
POMT2 (14q24.3)


* Walker-Warburg syndrome - WWS (1.38, 2.21, 2.29)
* Muscle-eye-brain disease - MEB (1.38, 2.21, 2.29)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA2 (1.38, 2.21, 2.29)
* Limb-girdle, muscular dystrophy, type 2n - LGMD2N (1.38, 2.21, 2.29)
Proteolipid protein 1
PLP1 (Xq22)


* Spastic paraplegia 2 - SPG2 (15.73)
Prune exopolyphosphatase 1
PRUNE1 (1q21.3)

* Spinal muscular atrophy, related to PRUNE1 - (12.94)
Pseudouridylate synthase 1(M)
PUS1 (12q24.33)


* Mitochondrial myopathy and sideroblastic anemia 1 - MLASA1 (16.60)
Pumilio, Drosophila, Homologh of, 1
PUM1 (1p35.2)


* Spinocerebellar ataxia 47 - SCA47 (13.43)
Pyridine nucleotidedisulphide oxidoreductase domain 1
PYROXD1 (12p12.1)

* Early-onset myofibrillar myopathy with PYRODX1 defect - (1.59, 3.60, 5.9)
* LGMD related to PYROXD1 - (1.59, 3.60, 5.9)
* Congenital Myopathy related to PYROXD1 - (1.59, 3.60, 5.9)
Pyruvate dehydrogenase kinase, isoenzyme 3(M)
PDK3 (Xp22.11)


* Charcot-Marie-Tooth neuropathy X-linked 6 - (14.41)
compteur de visite