Gene product table



Protein
Gene Symbol
All allelic disease phenotypes - locus/disease symbols
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 (15.20)
Patatin-like phospholipase domain containing 6
PNPLA6 (19p13.3-p13.2)


* Spastic paraplegia 39, autosomal recessive - SPG39 (15.37)
Patatin-like phospholipase domain containing 8(M)
PNPLA8 (7q31.1)


* Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy - MMLA (9.28)
Periaxin
PRX (19q13)


* Charcot-Marie-Tooth disease, type 4F - CMT4F (14.25, 14.39)
* Dejerine-Sottas neuropathy, autosomal recessive - CMT4F (14.25, 14.39)
Peripheral myelin protein 22
PMP22 (17p12-p11.2)


* Charcot-Marie-Tooth disease, type 1A - CMT1A (14.1, 14.5, 14.6, 14.36)
* Charcot-Marie-Tooth disease, type 1E - CMT1E (14.1, 14.5, 14.6, 14.36)
* Dejerine-Sottas Syndrome - DSSB (14.1, 14.5, 14.6, 14.36)
* Neuropathy, recurrent, with pressure palsies - HNPP (14.1, 14.5, 14.6, 14.36)
peripheral myelin protein-2
PMP2 (8q21.13)


* charcot-marie-tooth neuropathy, dominant intermediate A - CMTDIA (14.11)
Peripherin
PRPH (12q13.12)


* Susceptibility to amyotrophic lateral sclerosis related to peripherin - (12.60)
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 (13.67)
Phenylalanine--tRNA ligase(M)
FARS2 (6p25.1)


* Spastic paraplegia 77, autosomal recessive - SPG77 (15.60)
Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
PIP5K1C (19p13.3)

* Lethal congenital contractural syndrome 3 - LCCS3 (12.68)
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 - (9.12)
Phosphoglycerate mutase 2 (muscle)
PGAM2 (7p13-p12)


* Myopathy due to phosphoglycerate mutase deficiency - PGAMM (9.13)
* Glycogen storage disease X - GSD10 (9.13)
Phospholamban
PLN (6q22.1)


* Hypertrophic cardiomyopathy related to phospholamban - (10.19, 10.45)
* Cardiomyopathy, familial hypertrophic, 18 - CMH18 (10.19, 10.45)
* Cardiomyopathy, dilated, 1P - CMD1P (10.19, 10.45)
Phosphoribosyl pyrophosphate synthetase 1
PRPS1 (Xq21.32-q24)


* charcot-marie-tooth disease, x-linked recessive, 5 - CMTX5 (14.34)
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 (13.66)
Plakophilin 2
PKP2 (12p11)


* Arrhythmogenic right ventricular dysplasia, 9 - ARDV9 (10.86)
Pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLEKHG5 (1p36)


* spinal muscular atrophy, distal, autosomal recessive, 4 - DSMA4 (12.8, 14.73)
* Axonal neuropathy intermediate recessive C - CMTRIC (12.8, 14.73)
plectin
PLEC (8q24.3)


* Myasthenic syndrome, with plectin defect - (1.37, 1.48, 5.17, 11.22)
* Limb girdle muscular dystrophy with ophthalmoplegia - (1.37, 1.48, 5.17, 11.22)
* Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - MDEBS (1.37, 1.48, 5.17, 11.22)
* Limb-girdle, muscular dystrophy, type 2q - LGMD2Q (1.37, 1.48, 5.17, 11.22)
Poly(A) binding protein, nuclear 1
PABPN1 (14q11.2-q13)


* Oculopharyngeal muscular dystorphy - OPMD (5.15)
Polymerase (DNA directed), gamma(M)
POLG (15q25)


* Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEOA1 (13.62, 16.16)
* Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - SANDO (13.62, 16.16)
* spinocerebellar ataxia with epilepsy, included - SCAE (13.62, 16.16)
Polymerase I and transcript release factor(M)
PTRF (17q21-q23)


* lipodystrophy, congenital generalized, type 4 - CGL4 (1.12)
polynucleotide kinase 3’-phosphatase
PNKP (19q13.33)


* Early-onset axonal Charcot-Marie-Tooth with ataxia - (14.67)
Potassium chloride cotransporter KCC3
SLC12A6 (15q13-q15)


* Agenesis of the corpus callosum with peripheral neuropathy - ACCPN (14.93)
* Charlevoix disease - SLC12A6 (14.93)
* Andermann syndrome - SLC12A6 (14.93)
Potassium inwardly-rectifying channel J2
KCNJ2 (17q23)


* Long QT syndrome-7 - LQT7 (7.14, 10.108, 10.117, 10.128)
* Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom - ATS (7.14, 10.108, 10.117, 10.128)
* Atrial fibrillation, 9 - ATFB9 (7.14, 10.108, 10.117, 10.128)
Potassium inwardly-rectifying channel, subfamily J, member 5
KCNJ5 (11 q24.3)


* Long QT syndrome 13 - LQT13 (10.114)
Potassium voltage-gated channel, Isk-related family, member 1
KCNE1 (21q22.1-q22.2)


* Long QT syndrome-5 - LQT5 (7.19, 10.106)
* Jervell and Lange-Nielsen syndrome - JLNS1 (7.19, 10.106)
Potassium voltage-gated channel, Isk-related family, member 2
KCNE2 (21q22.12)


* Long QT syndrome-6 - LQT6 (7.18, 10.107, 10.119, 10.123)
* Atrial fibrillation, 4 - ATFB4 (7.18, 10.107, 10.119, 10.123)
Potassium voltage-gated channel, Isk-related family, member 3
KCNE3 (11q13-q14)


* Hypokalaemic periodic paralysis, type 3 - hypoKPP3 (7.11, 10.139)
* Brugada syndrome 6 - BRGDA6 (7.11, 10.139)
Potassium voltage-gated channel, KQT-like subfamily, member 1
KCNQ1 (11p15.5)


* Long QT syndrome-1 - LQT1 (7.16, 7.17, 10.102, 10.116, 10.118, 10.122)
* Romano-Ward syndrome - RWS (7.16, 7.17, 10.102, 10.116, 10.118, 10.122)
* jervell and lange-nielsen syndrome - JLNS1 (7.16, 7.17, 10.102, 10.116, 10.118, 10.122)
* Atrial fibrillation, 3 - ATFB3 (7.16, 7.17, 10.102, 10.116, 10.118, 10.122)
Potassium voltage-gated channel, shaker-related subfamily, member 1
KCNA1 (12p13)


* Episodic ataxia with myokymia - EA1 (7.12, 13.34)
Potassium voltage-gated channel, shaker-related subfamily, member 5
KCNA5 (12p13)


* atrial fibrillation, familial - ATFB7 (10.126)
Potassium voltage-gated channel, Shal-related subfamily, member 3
KCND3 (1p13.2)


* Spinocerebellar ataxia 19 - SCA19 (13.17)
Potassium voltage-gated channel, Shaw-related subfamily, member 3
KCNC3 (19q13.3-q13.4)


* Spinocerebellar ataxia 13 - SCA13 (13.12)
PR/SET domain 12 (positive regulatory domain zinc finger protein 12)
PRDM12 (9q34.12)


* Hereditary sensory and autonomic neuropathy type VIII - HSAN8 (14.90)
Presenilin 2
PSEN2 (1q42.13)


* Cardiomyopathy, dilated, 1W - CMD1U (10.50)
prodynorphin
PDYN (20p13-p12-3)


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


* Amyotrophic lateral sclerosis 18 - ALS18 (12.56)
Prolyl endopeptidase-like
PREPL (2p22.1)


* Congenital myasthenic syndrome related to PREPL deficiency - (11.26)
Protein kinase C, gamma
PRKCG (19q13.4)


* 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-linked mannose N-acetylglucosaminyltransferase 2
POMGNT2 (3p22.1)


* Walker-Warburg syndrome - WWS (2.26)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, - MDDGA8 (2.26)
Protein phosphatase 2 regulatory subunit B, beta isoform
PPP2R2B (5q31-5q32)


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


* Congenital myopathy related to PTPLA - (3.44)
Protein-O-mannose kinase
POMK (8p11.21)

* Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 - MDDGA12 (2.40)
Protein-O-mannosyltransferase 1
POMT1 (9q34.1)


* Walker-Warburg syndrome - WWS (1.31, 2.21)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA1 (1.31, 2.21)
* Muscular dystrophy, Limb-Girdle, type 2K - LGMD2K (1.31, 2.21)
Protein-O-mannosyltransferase 2
POMT2 (14q24.3)


* Walker-Warburg syndrome - WWS (1.34, 2.22, 2.30)
* Muscle-eye-brain disease - MEB (1.34, 2.22, 2.30)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA2 (1.34, 2.22, 2.30)
* Limb-girdle, muscular dystrophy, type 2n - LGMD2N (1.34, 2.22, 2.30)
Proteolipid protein 1
PLP1 (Xq22)


* Spastic paraplegia 2 - SPG2 (15.64)
Protrudin
ZFYVE27 (10q24.2)

* Spastic paraplegia 33 - SPG33 (15.13)
Pseudouridylate synthase 1(M)
PUS1 (12q24.33)


* Mitochondrial myopathy and sideroblastic anemia 1 - MLASA1 (16.28)
Pyridine nucleotidedisulphide oxidoreductase domain 1
PYRODX1 (12p12.1)

* Early-onset myofibrillar myopathy with PYRODX1 defect - (5.28)
Pyruvate dehydrogenase kinase, isoenzyme 3(M)
PDK3 (Xp22.11)


* Charcot-Marie-Tooth neuropathy X-linked 6 - (14.35)