Disease table
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
naxos disease (10.134, 10.125) | 601214 | |
Nemalin myopathy with distal arthrogryposis (17.13, 3.16) | ||
Nemaline myopathy (3.9) | 610687 | |
Nemaline myopathy (3.11) | 615731 | |
Nemaline myopathy (3.12) | 616165 | |
Nemaline myopathy (10.74, 3.13, 10.24, 10.99) | 617336 | |
Nemaline myopathy 1, autosomal dominant (3.3, 3.4) | 609284 | |
Nemaline myopathy 2, autosomal recessive (3.5, 4.17, 4.18) | 256030 | |
Nemaline myopathy 3 (3.2, 3.38, 3.1, 3.37, 2.46) | 161800 | |
Nemaline myopathy 4 (3.6, 3.36, 17.9, 17.15) | 609285 | |
Nemaline myopathy 5 (3.7) | 605355 | |
Nemaline myopathy 6 (3.8) | 609273 | |
Nemaline Myopathy with
Cardiomyopathy (3.14) | ||
Nesprin-2 related muscular dystrophy (1.6) | 612999 | |
Neurodegeneration with brain iron accumulation 4 (15.43) | 614298 | |
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (12.116) | 618170 | |
Neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies (17.27) | 618622 | |
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (14.136, 14.79) | 619091 | |
Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy and Epilepsy (13.109) | 618879 | |
Neurological impairment (13.55) | ||
Neuromuscular disorder, congenital, with dysmorphic facies (5.17) | 620775 | |
Neuromyotonia and axonal neuropathy, autosomal recessive (14.85, 12.21) | 137200 | |
Neuronal intranuclear inclusion diseases (14.134, 5.25, 14.77) | 603472 | |
Neuronopathy, Distal hereditary motor related to HINT1 (14.85, 12.21) | ||
Neuronopathy, distal hereditary motor, autosomal dominant 10 (12.32) | 620080 | |
Neuronopathy, distal hereditary motor, autosomal dominant 12 (15.13, 12.34, 12.10) | 614751 | |
Neuronopathy, distal hereditary motor, autosomal dominant 13 (15.9, 12.35) | 619112 | |
Neuronopathy, distal hereditary motor, autosomal dominant 14 (12.36, 12.84) | 607641 | |
Neuronopathy, distal hereditary motor, autosomal recessive 10 (12.103, 14.132, 12.14) | 620542 | |
Neuronopathy, distal hereditary motor, type I (12.23) | 182960 | ? - (7q34-q36) |
neuronopathy, distal hereditary motor, type IIC (12.26) | 613376 | |
Neuronopathy, distal hereditary motor, type IX (12.31) | 617721 | |
Neuronopathy, distal hereditary motor, type VIIA, with vocal cord paralysis (Harper-Young) (11.28, 12.29) | 158580 | |
Neuronopathy, distal hereditary motor, type VIII (12.30, 12.39, 14.50) | 600175 | |
Neuropathy, axonal motor-sensory, with deafness and mental retardation (14.40, 17.44, 13.108) | 310490 | |
Neuropathy, congenital hypomyelinating, 1 (14.4, 14.28, 14.45) | 605253 | |
Neuropathy, congenital hypomyelinating, 2 (14.2, 14.44, 14.55, 14.56, 14.29, 14.17) | 605253 | |
Neuropathy, distal hereditary motor type V (14.51, 12.27) | 600794 | |
Neuropathy, distal hereditary motor, autosomal recessive 6 (15.13, 12.34, 12.10) | 620011 | |
Neuropathy, distal hereditary motor, autosomal recessive 9 (17.53, 12.13) | 620402 | |
Neuropathy, distal hereditary motor, type II (14.58, 12.24, 4.27, 4.28) | 158590 | |
Neuropathy, distal hereditary motor, type IIB (14.53, 12.25) | 608634 | |
Neuropathy, distal hereditary motor, with pyramidal features (12.57, 13.95) | 602433 | |
Neuropathy, hereditary motor and sensory, lom type (14.27) | 601455 | |
Neuropathy, hereditary motor and sensory, Okinawa type (14.71, 15.57) | 604484 | |
Neuropathy, hereditary motor and sensory, type VIB (12.104) | 616505 | |
Neuropathy, hereditary motor, autosomal recessive 8 (14.98, 12.12) | 618912 | |
Neuropathy, hereditary motor, with myopathic features (12.11) | 619216 | |
neuropathy, hereditary sensory and autonomic type v (14.110) | 608654 | |
Neuropathy, hereditary sensory and autonomic, type 1 (14.102, 12.80) | 162400 | |
Neuropathy, hereditary sensory and autonomic, type IC (14.104) | 613640 | |
neuropathy, hereditary sensory and autonomic, type iia (14.105) | 201300 | |
Neuropathy, hereditary sensory and autonomic, type IID (14.107, 14.122) | 243000 | |
Neuropathy, hereditary sensory and autonomic, type III (17.3, 14.108) | 223900 | |
Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay (15.49, 14.114) | 615031 | |
Neuropathy, hereditary sensory and autonomic, type VII (14.112, 14.123) | 615548 | |
Neuropathy, hereditary sensory, type 1 (14.102, 12.80) | 162400 | |
Neuropathy, hereditary sensory, type 1E (14.116) | 614116 | |
Neuropathy, hereditary sensory, type ID (15.1, 14.115) | 613708 | |
Neuropathy, hereditary sensory, type IIC (15.39, 14.118, 15.12) | 614213 | |
Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive (14.133) | 256840 | |
Neuropathy, recurrent, with pressure palsies (14.1, 14.43, 14.5, 14.6) | 162500 | |
Neutral lipid storage disease without ichthyosis (9.31) | 610717 | |
Nonaka myopathy (4.5) | 605820 | |
Noncompaction of left ventricular myocardium, isolated (10.90, 10.103) | 300183 |