Disease table
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
| naxos disease (10.134, 10.125) | 601214 | JUP (17q21.2) Junction plakoglobin       |
| Nemalin myopathy with distal arthrogryposis (16.13, 3.17) | TNNT3 (11p15.5) Troponin T3, skeletal | |
| Nemaline myopathy (3.10) | 610687 | CFL2 (14q12) Cofilin 2 (muscle) |
| Nemaline myopathy (3.12) | 615731 | KLHL41 (2q31.1) Kelch-like family member 41 |
| Nemaline myopathy (3.13) | 616165 | LMOD3 (3p14.1) Leiomodin 3 (fetal) |
| Nemaline myopathy (10.75, 3.14, 10.24, 10.99) | 617336 | MYPN (10q21.1) Myopalladin |
| Nemaline myopathy 1, autosomal dominant (3.4, 3.5) | 609284 | TPM3 (1q21.2) Tropomyosin 3 |
| Nemaline myopathy 2, autosomal recessive (3.6, 4.17, 4.18) | 256030 | NEB (2q22) Nebulin |
| Nemaline myopathy 3 (3.2, 3.52, 3.1, 3.3) | 161800 | ACTA1 (1q42.1) Alpha actin, skeletal muscle |
| Nemaline myopathy 4 (3.7, 3.50, 16.9, 16.15) | 609285 | TPM2 (9p13) Tropomyosin 2 (beta) |
| Nemaline myopathy 5 (3.8) | 605355 | TNNT1 (19q13.4) Slow troponin T |
| Nemaline myopathy 6 (3.9, ) | 609273 | KBTBD13 (15q22.31) Kelch repeat and BTB (POZ) domain containing 13 |
| Nemaline Myopathy with
Cardiomyopathy (3.15) | MYO18B (22q12.1) Myosin XVIIIB | |
| Nesprin-2 related muscular dystrophy (1.6) | 612999 | SYNE2 (14q23.2) Spectrin repeat containing, nuclear envelope 2 (nesprin 2) |
| Neurodegeneration with brain iron accumulation 4 (15.46) | 614298 | C19orf12 (19q12) Chromosome 19 open reading frame 12 (M) |
| Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (12.112) | 618170 | ADPRHL2 (1p34.3) ADP-Ribosylhydrolase-Like 2 |
| Neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies (16.26) | 618622 | SMPD4 (2q21.1) Sphingomyelin phosphodiesterase 4, neutral membrane |
| Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (14.139) | 619091 | NARS1 (18q21.31) Asparaginyl-tRNA Synthetase 1 |
| Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy and Epilepsy (13.109) | 618879 | PIGK (1p31.1) Phosphatidylinositol Glycan Anchor Biosynthesis Class K Protein |
| Neurological impairment (13.55) | TOMM70 (3q12.2) Translocase of Outer Mitochondrial Membrane 70 | |
| Neuromyotonia and axonal neuropathy, autosomal recessive (14.92, 12.23) | 137200 | HINT1 (5q23.3) Histidine triad nucleotide binding protein 1 |
| Neuronal intranuclear inclusion diseases (14.137, 5.24, 14.84) | 603472 | NOTCH2NLC (1q21.2) Notch2 N-terminal-like protein |
| Neuronopathy, Distal hereditary motor related to HINT1 (14.92, 12.23) | HINT1 (5q23.3) Histidine triad nucleotide binding protein 1 | |
| Neuronopathy, distal hereditary motor, autosomal dominant 10 (12.33) | 620080 | EMILIN1 (2p23.3) Elastin microfibril interfacer 1 |
| Neuronopathy, distal hereditary motor, autosomal dominant 12 (15.14, 12.35, 12.18) | 614751 | REEP1 (2p11.2) Receptor accessory protein 1 (M) |
| Neuronopathy, distal hereditary motor, autosomal dominant 13 (15.9, 12.36) | 619112 | BSCL2 (11q12-q13.5) Seipin |
| Neuronopathy, distal hereditary motor, autosomal dominant 14 (12.37, 12.80) | 607641 | DCTN1 (2p13) Dynactin 1 |
| Neuronopathy, distal hereditary motor, type I (12.24) | 182960 | ? - (7q34-q36) |
| neuronopathy, distal hereditary motor, type IIC (12.27) | 613376 | HSPB3 (5q11.2) Heat shock 27kDa protein 3 |
| Neuronopathy, distal hereditary motor, type IX (12.32) | 617721 | WARS (14q32.2) Tryptophanyl-tRNA synthetase |
| Neuronopathy, distal hereditary motor, type VIIA, with vocal cord paralysis (Harper-Young) (11.28, 12.30) | 158580 | SLC5A7 (2q12.31) Solute carrier family 5 (sodium/choline cotransporter), member 7 |
| Neuronopathy, distal hereditary motor, type VIII (12.31, 12.11, 14.57) | 600175 | TRPV4 (12q23-q24) Transient receptor potential cation channel, subfamily V, member 4 |
| Neuropathy, axonal motor-sensory, with deafness and mental retardation (14.46, 16.65, 13.108) | 310490 | AIFM1 (Xq24-q26.1) Apoptosis-inducing factor, Mitochondria-associated 1 (M) |
| Neuropathy, congenital hypomyelinating, 1 (14.4, 14.34, 14.52) | 605253 | EGR2 (10q21.1) Early growth response 2 protein |
| Neuropathy, congenital hypomyelinating, 2 (14.2, 14.51, 14.62, 14.63, 14.35, 14.18) | 605253 | MPZ (1q22) Myelin protein zero |
| Neuropathy, distal hereditary motor type V (14.58, 12.28) | 600794 | GARS1 (7p15) Glycyl-tRNA synthetase |
| Neuropathy, distal hereditary motor, autosomal recessive 6 (15.14, 12.35, 12.18) | 620011 | REEP1 (2p11.2) Receptor accessory protein 1 (M) |
| Neuropathy, distal hereditary motor, autosomal recessive 9 (16.79, 12.21) | 620402 | COQ7 (16p12.3) Coenzyme Q7 (M) |
| Neuropathy, distal hereditary motor, type II (14.65, 12.25, 4.27, 4.28) | 158590 | HSPB8 (12q24.23) Heat shock 27kDa protein 8 |
| Neuropathy, distal hereditary motor, type IIB (14.60, 12.26) | 608634 | HSPB1 (7q11.23) Heat shock 27kDa protein 1 |
| Neuropathy, distal hereditary motor, with pyramidal features (12.55, 13.95) | 602433 | SETX (9q34.13) Senataxin |
| Neuropathy, hereditary motor and sensory, lom type (14.33) | 601455 | NDRG1 (8q24.3) N-myc downstream regulated gene 1 |
| Neuropathy, hereditary motor and sensory, Okinawa type (14.78, 15.60) | 604484 | TFG (3q13) TRK-fused gene |
| Neuropathy, hereditary motor and sensory, type VIB (12.101) | 616505 | SLC25A46 (5q22.1) solute carrier family 25 member 46 (M) |
| Neuropathy, hereditary motor, autosomal recessive 8 (14.101, 12.20) | 618912 | SORD (15q21.1) Sorbitol Dehydrogenase |
| Neuropathy, hereditary motor, with myopathic features (12.19) | 619216 | VWA1 (1p36.33) Von Willebrand factor A domain-containing protein 1 |
| neuropathy, hereditary sensory and autonomic type v (14.114) | 608654 | NGF (1p13.1) Nerve growth factor (beta polypeptide) |
| Neuropathy, hereditary sensory and autonomic, type 1 (14.106, 12.86) | 162400 | SPTLC1 (9q22.2) Serine palmitoyltransferase subunit 1 |
| Neuropathy, hereditary sensory and autonomic, type IC (14.108) | 613640 | SPTLC2 (14q24.3) Serine palmitoyltransferase long chain base subunit 2 |
| neuropathy, hereditary sensory and autonomic, type iia (14.109) | 201300 | WNK1 (12p.13) WNK lysine deficient protein kinase 1 |
| Neuropathy, hereditary sensory and autonomic, type IID (14.111, 14.125) | 243000 | SCN9A (2q24.3) Sodium voltage-gated channel alpha subunit 9 |
| Neuropathy, hereditary sensory and autonomic, type III (16.3, 14.112) | 223900 | ELP1 (9q31.3) Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein |
| Neuropathy, hereditary sensory and autonomic, type VII (14.116, 14.126) | 615548 | SCN11A (3p22.2) Sodium voltage-gated channel alpha subunit 11 |
| Neuropathy, hereditary sensory, type 1 (14.106, 12.86) | 162400 | SPTLC1 (9q22.2) Serine palmitoyltransferase subunit 1 |
| Neuropathy, hereditary sensory, type 1E (14.119) | 614116 | DNMT1 (19p13.2) DNA (cytosine-5)-methyltransferase 1 |
| Neuropathy, hereditary sensory, type ID (15.1, 14.118) | 613708 | ATL1 (14q22.1) Atlastin GTPase 1 |
| Neuropathy, hereditary sensory, type IIC (15.42, 14.121, 15.13) | 614213 | KIF1A (2q37.3) Kinesin family member 1A |
| Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive (14.136) | 256840 | CCT5 (5p15.2) Chaperonin containing TCP1 subunit 5 |
| Neuropathy, recurrent, with pressure palsies (14.1, 14.50, 14.5, 14.6) | 162500 | PMP22 (17p12-p11.2) Peripheral myelin protein 22 |
| Neutral lipid storage disease without ichthyosis (9.27) | 610717 | PNPLA2 (1p15.5) Adipose triglyceride lipase (desnutrin) |
| Nonaka myopathy (4.5) | 605820 | GNE (9p13.3) UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase |
| Noncompaction of left ventricular myocardium, isolated (10.91, 10.103) | 300183 | TAZ (Xq28) Tafazzin |