Protein | Gene Symbol | All allelic disease phenotypes - locus/disease symbols |
Heat shock 27kDa protein 1 | | * Charcot-Marie-Tooth neuropathy Type 2F - CMT2F (12.20, 14.53)
* Neuropathy, distal hereditary motor, type IIB - HMN2B (12.20, 14.53)
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Heat shock 27kDa protein 3 | | * neuronopathy, distal hereditary motor, type IIC - HMN2C (12.21)
| Heat shock 27kDa protein 8 | | * Rimmed vacuole myopathy - (4.28, 4.29, 12.19, 14.58)
* Neuropathy, distal hereditary motor, type II - HMN2A (4.28, 4.29, 12.19, 14.58)
* Charcot-Marie-Tooth neuropathy Type 2L - CMT2L (4.28, 4.29, 12.19, 14.58)
| Heat shock 60kDa protein 1 (chaperonin)(M) | | * Spastic paraplegia 13 - SPG13 (15.8)
| Hect domain- and Ankyrin repeat- contaiing E3 Ubiquitin protein ligase 1 | | * Spastic paraplegia and psychomotor retardation with or without seizures - SPPRS (15.71)
| Hetergeneous nuclear ribonucleoprotein A2/B1 | | * Oculopharyngeal muscular dystrophy related to HNRNPA2B1 - (5.25, 5.35)
* Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia - IBMPFD2 (5.25, 5.35)
| Heterogeneous nuclear ribonucleoprotein A1 | | * Isolated inclusion body myopathy - IBMPFD3 (3.40, 12.66)
* Amyotrophic lateral sclerosis 20 - ALS20 (3.40, 12.66)
| Heterogeneous nuclear ribonucleoprotein D-like | | * Limb-Girdle, Muscular dystrophy, type 1G - LGMD1G (1.19)
| Hexokinase 1(M) | | * Charcot-Marie-Tooth neuropathy Type 4G - CMT4G (14.31)
| Hexosaminidase B | | * Late onset spinal muscular atrophy related to HEXB - (12.98)
| Histidine triad nucleotide binding protein 1 | | * Distal hereditary motor neuronopathy - (12.16, 14.83)
* Axonal neuropathy with myotonia - NMAN (12.16, 14.83)
| Histidyl-tRNA synthetase | | * Charcot-Marie-Tooth neuropathy Type 2W - CMT2W (14.65)
| Homeobox D10 | | * Charcot-Marie-Tooth disease, congenital, vertical talus - (14.10)
| HSP-40 homologue, subfamily B, number 6 | | * LGMDD1 - (1.17, 4.25, 4.26)
| Hyperpolarization activated cyclic nucleotide-gated potassium channel 4 | | * Sick Sinus Syndrome 2, autosomal dominant - SSS2 (10.180, 10.184)
* familial sinusal bradycardia - FSBD (10.180, 10.184)
* Brugada syndrome 8 - BRGDA8 (10.180, 10.184)
| Hypothetical protein LOC9907 ? | | * Spastic paraplegia 48, autosomal recessive - SPG48 (15.47)
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