Disease phenotype | Item in this table | Key references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
| Torsion dystonia, early onset - (AD) | 16.1 | | |  | * Torsion dystonia, early onset - EOTD |
|
| Myoclonus-dystonia syndrome - (AD) | 16.2 | | | | * Myoclonus-dystonia syndrome - DYT11 |
|
| Familial dysautonomia (Riley-Day syndrome) - (AR) | 16.3 | | | inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
|
| | * Familial dysautonomia (Riley-Day syndrome) | | * Neuropathy, hereditary sensory and autonomic, type III - HSAN3 |
|
| Familial amyloid neuropathy - (AD) | 16.4 | | | transthyretin (prealbumin, amyloidosis type I)
|
|
| | * Familial amyloid neuropathy |
|
| Congenital fibrosis of the extraocular muscles - (AD) | 16.5 | | | kinesin family member 21A
|
|
| | * Fibrosis of extraocular muscles, congenital, 1 - CFEOM1 |
|
| Congenital fibrosis of the extraocular muscles - (AR) | 16.6 | | | paired-like aristaless homeobox protein 2A
|
|
| | * Fibrosis of extraocular muscles, congenital, 2 - CFEOM2 |
|
| Congenital fibrosis of the extraocular muscles - (AD) | 16.7 | | | | * Fibrosis of extraocular muscles, congenital, 3 - CFEOM3 |
|
| Distal arthrogryposis type 1 - (AD) | 16.8 | | | | * Arthrogryposis, distal, type 1A - DA1A | | * arthrogryposis, distal, type 2B - DA2B | | * Cap myopathy, TPM2-related, included | | * Nemaline myopathy 4 - NEM4 |
|
| Distal arthrogryposis type 2A, Freeman-Sheldon syndrome - (AD) | 16.9 | | | myosine, heavy chain 3, skeletal muscle, embryonic
|
|
| | * Arthrogryposis, distal, type 2A - DA2A | | * Arthrogryposis, distal, type 2B - DA2B |
|
| Distal arthrogryposis type 2B, Sheldon-Hall syndrome - (AD) | 16.10 | | | | * Arthrogryposis, distal, type 2B - DA2B |
|
| Distal arthrogryposis type 2B, Sheldon-Hall syndrome - (AD) | 16.11 | | | | * Arthrogryposis, distal, type 2B - DA2B |
|
| Distal arthrogryposis type 2B, Sheldon-Hall syndrome - (AD) | 16.12 | | | myosine, heavy chain 3, skeletal muscle, embryonic
|
|
| | * Arthrogryposis, distal, type 2A - DA2A | | * Arthrogryposis, distal, type 2B - DA2B |
|
| Distal arthrogryposis type 2B, Sheldon-Hall syndrome - (AD) | 16.13 | | | | * Arthrogryposis, distal, type 1A - DA1A | | * arthrogryposis, distal, type 2B - DA2B | | * Cap myopathy, TPM2-related, included | | * Nemaline myopathy 4 - NEM4 |
|
| Arthrogryposis multiplex congenita with nesprin-1 defect - (AR) | 16.14 | | | spectrin repeat containing, nuclear envelope 1 (nesprin 1)
|
|
| | * Dilated cardiomyopathy with nesprin-1 defect | | * Emery-dreifuss muscular dystrophy 4 - EDMD4 | | * Spinocerebellar ataxia, autosomal recessive 8 - SCAR8 |
|
| Trismus- pseudocamptodactyly - (AD) | 16.15 | | | Myosin heavy chain, 8, skeletal muscle, perinatal
|
|
| | * Myosin, heavy chain, perinatal - MYH8 |
|
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 - (AD) | 16.16 | | | polymerase (DNA directed), gamma
|
|
| | * Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEOA1 | | * Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - SANDO | | * spinocerebellar ataxia with epilepsy, included - SCAE |
|
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 - (AD) | 16.17 | | | mitochondrial carrier; adenine nucleotide translocator
|
|
| | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2 |
|
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3; - (AD) | 16.18 | | | twinkle/twinky (mt DNA helicase)
|
|
| | * Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEO3A | | * Spinocerebellar ataxia, infantile-onset, with sensory neuropathy - IOSCA |
|
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4; PEOA4 - (AD) | 16.19 | | | mitochondrial DNA polymerase, accessory subunit
|
|
| | * progressive external ophthalmoplegia, autosomal dominant, 4 - PEOA4 |
|
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5 - (AD) | 16.20 | | | ribonucleotide reductase M2 B (TP53 inducible)
|
|
| | * Mitochondrial dna depletion syndrome 8A - MTDP8B | | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5 |
|
| Mitochondrial DNA depletion myopathy - (AR) | 16.21 | | | Thymidine kinase 2, mitochondrial
|
|
| | * Mitochondrial dna depletion syndrome, myopathic form - MTDPS3 |
|
| Mitochondrial DNA depletion myopathy, encephalomyopathic form - (AR) | 16.22 | | | succinate-CoA ligase, ADP-forming, beta subunit
|
|
| | * Mitochondrial dna depletion syndrome, myopathic form - MDDS4 |
|
| Mitochondrial DNA depletion myopathy - (AR) | 16.23 | | | ribonucleotide reductase M2 B (TP53 inducible)
|
|
| | * Mitochondrial dna depletion syndrome 8A - MTDP8B | | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5 |
|
| Progressive external ophthalmoplegia, optic atrophy 1 with deafness - (AD) | 16.24 | | | mitochondrial dynamin-like GTPase
|
|
| | * optic atrophy 1 and deafness |
|
