Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Paramyotonia congenita of Von Eulenburg (7.3, 7.6, 7.4, 7.7, 11.22, 3.59, 16.32)
168300
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



patient with HCM and isolated respiratory complex I deficiency (10.29)
NDUFAF1 (15q15.1)
NADH-ubiquinone oxidoreductase 1 alpha subcomplex (M)



Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom (10.129, 10.141, 10.152)
170390
KCNJ2 (17q24.3)
Potassium channel, inwardly rectifying, dubfamily J, member 2



Peripheral neuropathy and deafness, autosomal dominant (14.117)
GJB3 (1p34.3)
Gap junction protein, beta 3, 31kDa (=connexin 31)



Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (12.98)
618124
MCM3AP (21q22.3)
Minichromosome maintenance 3-associated protein



Peripheral neuropathy, myopathy, hoarseness and hearing loss (12.96)
614369
MYH14 (19q13.33)
Myosin, heavy chain 14, non muscle



Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (16.63)
615704
FAM111B (11q12.1)
Family with sequence similarity 111 member B



Polyglucosan Body Myopathy 2 (9.8, 9.12)
616199
GYG1 (3q24)
Glycogenin 1



Polyglucosan storage myopathy (9.11)
RBCK1 (20p13)
RanBP-type and C3HC4-type zinc finger containing 1 (heme-oxidized IRP2 ubiquitin ligase 1)



Polyneuropathy with erythromelalgia (14.115)
NMNAT2 (1q25.3)
Nicotinamide nucleoside adenyltransferase 2



Pontocerebellar hypoplasia type 1 (12.89, 14.122, 12.10)
607596
VRK1 (14q32)
Vaccinia related kinase 1



posphoglycerate kinase deficiency (9.13)
300653
PGK1 (Xq13)
Phosphoglycerate kinase 1



Potassium-aggravated myotonia (7.3, 7.6, 7.4, 7.7, 11.22, 3.59, 16.32)
608390
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



Presynaptic congenital myasthenic sydrome related to MUNC13-1 (11.37)
UNC13A (19p13.11)
Unc-13 homolog A (C. elegans)



Presynaptic congenital myasthenic syndrome (11.36)
LAMA5 (20q13.33)
Laminin, Alpha 5



Presynaptic congenital myasthenic syndrome 23 (11.29)
618197
SLC25A1 (22q11.21)
Solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1



Presynaptic congenital myasthenic syndrome 24 (11.30)
618198
MYO9A (15q23)
Myosin IXA



Presynaptic congenital myasthenic syndrome 25 (15.76, 11.31)
618323
VAMP1 (12p13)
Vesicle associated membrane protein (synaptobrevin 1)



Primary lateral sclerosis, juvenile (12.45, 15.69)
606353
ALS2 (2q33.2)
Alsin Rho guanine nucleotide exchange factor 2



Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal (16.33, 13.86, 16.39, 16.48, 16.47)
157640
POLG (15q25)
Polymerase (DNA directed), gamma (M)



Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal (13.54, 16.35)
609286
TWNK (10q23.-q24.1)
Twinkle mtDNA helicase



Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal (16.51, 16.37, 16.50)
613077
RRM2B (8q23.1)
Ribonucleotide reductase M2 B (TP53 inducible) (M)



Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal (16.34, 16.55, 16.54)
609283
SLC25A4 (4q35)
Mitochondrial carrier; adenine nucleotide translocator (M)



Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 (16.38)
615156
DNA2 (10q21.3)
DNA replication helicase 2 (M)



Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 (16.43)
618098
TOP3A (17p11.2)
DNA topoisomerase III



Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (16.33, 13.86, 16.39, 16.48, 16.47)
258450
POLG (15q25)
Polymerase (DNA directed), gamma (M)



Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2 (16.40)
616479
RNASEH1 (2p25.3)
Ribonuclease H1 (M)



Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 3 (16.45, 13.28, 16.41)
617069
TK2 (16q22-q23)
Thymidine kinase 2, mitochondrial (M)



Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 4 (16.42, 16.46)
617070
DGUOK (2p13.1)
Deoxyguanosine kinase (M)



Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with deafness (16.59, 16.57)
125250
OPA1 (3q28-q29)
optic atrophy 1 (M)



progressive external ophthalmoplegia, autosomal dominant, 4 (16.36)
610131
POLG2 (17q24.1)
Mitochondrial DNA polymerase, accessory subunit (M)



Progressive familial heart block, type I (10.125, 10.41, 10.163, 10.174, 10.153)
113900
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



Proximal myotonic myopathy (6.2)
602668
CNBP (3q21.3)
Cellular nucleic acid-binding protein