Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Paramyotonia congenita of Von Eulenburg (7.3, 7.5, 7.4, 7.6, 11.20)
168300
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



patient with HCM and isolated respiratory complex I deficiency (10.23)
NDUFAF1 (15q15.1)
NADH-ubiquinone oxidoreductase 1 alpha subcomplex (M)



Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom (7.14, 10.108, 10.117, 10.128)
170390
KCNJ2 (17q23)
Potassium inwardly-rectifying channel J2



Peripheral neuropathy and deafness, autosomal dominant (14.94)
GJB3 (1p34.3)
Gap junction protein, beta 3, 31kDa (=connexin 31)



Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (16.32)
615704
FAM111B (11q12.1)
family with sequence similarity 111 member B



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



Pontocerebellar hypoplasia type 1 (12.70, 14.99)
607596
VRK1 (14q32)
Vaccinia related kinase 1



posphoglycerate kinase deficiency (9.12)
300653
PGK1 (Xq13)
Phosphoglycerate kinase 1



Potassium-aggravated myotonia (7.3, 7.5, 7.4, 7.6, 11.20)
608390
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



Primary lateral sclerosis, juvenile (12.38, 15.62)
606353
ALS2 (2q33.2)
Alsin



Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal (16.16, 13.62)
157640
POLG (15q25)
Polymerase (DNA directed), gamma (M)



Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal (13.49, 16.18)
609286
C10orf2 (10q24.31)
chromosome 10 open reading frame 2 (M)



Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal (16.23, 16.20)
613077
RRM2B (8q23.1)
Ribonucleotide reductase M2 B (TP53 inducible) (M)



Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal (16.17)
609283
SLC25A4 (4q35)
Mitochondrial carrier; adenine nucleotide translocator (M)



Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with de (16.25)
125250
OPA1 (3q28-q29)
optic atrophy 1 (M)



progressive external ophthalmoplegia, autosomal dominant, 4 (16.19)
610131
POLG2 (17q24.1)
Mitochondrial DNA polymerase, accessory subunit (M)



Progressive familial heart block, type I (10.104, 7.7, 10.35, 10.134, 10.141)
113900
SCN5A (3p21)
Voltage-gated sodium channel type V alpha



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