Gene table

A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z

Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
PABPN1
poly(A) binding protein, nuclear 1

14q11.2-q13
Oculopharyngeal muscular dystorphy -OPMD
Oculopharyngeal muscular dystrophy, autosomal recessive -OPMD
PEO1
twinkle/twinky (mt DNA helicase)

10q23.3-q24.3
Spinocerebellar ataxia, infantile-onset, with sensory neuropathy -IOSCA
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal -PEO3A
PEX7
peroxisomal biogenesis factor 7

6q21-q22
refsum disease, adult -RD
PFKM
phosphofructokinase, muscle

12q13.3
Glycogen storage disease VII -PFKM
PGAM2
phosphoglycerate mutase 2 (muscle)

7p13-p12
Myopathy due to phosphoglycerate mutase deficiency -PGAMM
PGK1
phosphoglycerate kinase 1

Xq13
posphoglycerate kinase deficiency -
Hemolytic anemia due to PGK deficiency -PGK1
Phosphoglycerate kinase 1 pseudogene1 included -PGK1P1
Phosphoglycerate kinase 1 pseudogene2 included -PGK1P2
Myoglobinuria/hemolysis due to PGK deficiency -PGK1
PHOX2A
paired-like aristaless homeobox protein 2A

11q13.2
Fibrosis of extraocular muscles, congenital, 2 -CFEOM2
PHYH
phytanoyl-CoA 2-hydroxylase

10q13
refsum disease, adult -RD
PIP5K1C
phosphatidylinositol-4-phosphate 5-kinase, type I, gamma


19p13.3
lethal congenital contractural syndrome 3 -LCCS3
PKP2
plakophilin 2

12p11
Arrhythmogenic right ventricular dysplasia, 9 -ARDV9
PLEC1
plectin 1, intermediate filament binding protein 500kDa

8q24
myasthenic syndrome, myopathy and epidermis bullosa -
Epidermolysis bullosa simplex, Ogna type -EBS1
Muscular dystrophy with epidermolysis bullosa simplex -MDEBS
PLEKHG5
pleckstrin homology domain containing, family G (with RhoGef domain) member 5


1p36.31
spinal muscular atrophy, distal, autosomal recessive, 4 -DSMA4
PLN
phospholamban

6q22.1
Cardiomyopathy, idiopathic dilated -PLN
Cardiomyopathy, dilated, 1P -CMD1P
PLP1
proteolipid protein 1

Xq22
Pelizaeus-Merzbacher disease -PMD
Spastic paraplegia 2 -SPG2
PMP22
peripheral myelin protein 22

17p12-p11.2
Charcot-Marie-Tooth disease, type 1A -CMT1A
Charcot-Marie-Tooth disease, type 1E -CMT1E
Dejerine-Sottas Syndrome -DSS
Neuropathy, recurrent, with pressure palsies -HNPP
Roussy-Levy hereditary areflexic dystasia -PMP22
PNPLA2
adipose triglyceride lipase (desnutrin)

1p15.5
neutral lipid storage disease without ichthyosis -NLSDM
PNPLA6
patatin-like phospholipase domain containing 6


19p13.3-p13.2
spastic paraplegia 39, autosomal recessive -SPG39
POLG
polymerase (DNA directed), gamma

15q25
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal -PEOA1
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis -SANDO
spinocerebellar ataxia with epilepsy, included -SCAE
POLG2
mitochondrial DNA polymerase, accessory subunit

17q24.1
progressive external ophthalmoplegia, autosomal dominant, 4 -PEOA4
POMGNT1
O-linked mannose beta1,2-N-acetylglucosaminyltransferase

1p34.1
limb-girdle, muscular dystrophy, type 2o -LGMD2O
Muscle-eye-brain disease -MEB
Walker-Warburg syndrome -WWS
POMT1
Protein-O-mannosyltransferase 1

9q34.1
Walker-Warburg syndrome -WWS
Muscular dystrophy, Limb-Girdle, type 2K -LGMD2K
POMT2
protein-O-mannosyltransferase 2

14q24.3
limb-girdle, muscular dystrophy, type 2n -LGMD2N
Walker-Warburg syndrome -WWS2
Muscle-eye-brain disease -MEB
PPP2R2B
protein phosphatase 2 regulatory subunit B, beta isoform

5q31-5q32
Spinocerebellar ataxia 12 -SCA12
PRKAG2
protein kinase, AMP-activated, gamma 2 non-catalytic subunit

7q31
Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome -CMH6
PRKCG
protein kinase C, gamma

19q13.4
Spinocerebellar ataxia 14 -SCA14
PRPS1
phosphoribosyl pyrophosphate synthetase 1


Xq21.32-q24
charcot-marie-tooth disease, x-linked recessive, 5 -CMTX5
PRX
periaxin

19q13
Dejerine-Sottas neuropathy, autosomal recessive -CMT4F
Charcot-Marie-Tooth disease, type 4F -CMT4F
PTRF
Polymerase I and transcript release factor (cavin-1)

17q21
lipodystrophy, congenital generalize, type 4 -PTRF
PYGM
glycogen phosphorylase

11q12-q13.2
McArdle disease -PYGM