Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
HACD1Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase | 10p12.33 | * Arrhythmogenic right ventricular cardiomyopathy 6 - ARVC6 (3.39, 10.120) * Arrhythmogenic right ventricular dysplasia, familial, 6 - ARVD6 (3.39, 10.120) * Congenital Myopathy 11 - CMYP11 (3.39, 10.120)
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HACE1Hect domain- and Ankyrin repeat- contaiing E3 Ubiquitin protein ligase 1 | 6q16.3 | * Spastic paraplegia and psychomotor retardation with or without seizures - SPPRS (15.83)
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HARSHistidyl-tRNA synthetase | 5q31.3 | * Charcot-Marie-Tooth neuropathy Type 2W - CMT2W (14.72)
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HCN4Hyperpolarization activated cyclic nucleotide-gated potassium channel 4 | 3p22.2 | * Sick Sinus Syndrome 2, autosomal dominant - SSS2 (10.184, 10.188) * familial sinusal bradycardia - FSBD (10.184, 10.188) * Brugada syndrome 8 - BRGDA8 (10.184, 10.188)
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| 5q13.3 | * Late onset spinal muscular atrophy related to HEXB - (12.104)
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HINT1Histidine triad nucleotide binding protein 1 | 5q23.3 | * Neuromyotonia and axonal neuropathy, autosomal recessive - NMAN (12.23, 14.92) * Neuronopathy, Distal hereditary motor related to HINT1 - (12.23, 14.92)
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| 10q22.1 | * Charcot-Marie-Tooth neuropathy Type 4G - CMT4G (14.37)
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HMGCR3-Hydroxy-3-methylglutaryl-CoA reductase | 5q13.3 | * Muscular dystrophy; limb-girdle, autosomal recessive 28 - LGMDR28 (1.49)
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HNRNPA1Heterogeneous nuclear ribonucleoprotein A1 | 12q13.13 | * Isolated inclusion body myopathy - IBMPFD3 (5.37, 12.71) * Amyotrophic lateral sclerosis 20 - ALS20 (5.37, 12.71)
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HNRNPA2B1Hetergeneous nuclear ribonucleoprotein A2/B1 | 7q15.2 | * Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia - IBMPFD2 (5.26, 5.36) * Oculopharyngeal muscular dystrophy related to HNRNPA2B1 - (5.26, 5.36)
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HNRNPDLHeterogeneous nuclear ribonucleoprotein D-like | 4q21 | * Limb-Girdle, Muscular dystrophy, type 1G - LGMD1G (1.18)
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| 2q31.1 | * Charcot-Marie-Tooth disease, congenital, vertical talus - (14.10)
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HPDL4-hydroxyphenylpyruvate dioxygenase-like | 1p34.1 | * Spastic paraplegia 83, autosomal recessive - SPG83 (15.75)
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HRASV-Ha-RAS Harvey Rat Sarcoma Viral | 11p15.5 | * Myopathy, congenital, With excess of muscle spindles - CMEMS (5.46)
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HSPB1Heat shock 27kDa protein 1 | 7q11.23 | * Charcot-Marie-Tooth neuropathy Type 2F - CMT2F (12.26, 14.60) * Neuropathy, distal hereditary motor, type IIB - HMN2B (12.26, 14.60)
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HSPB3Heat shock 27kDa protein 3 | 5q11.2 | * neuronopathy, distal hereditary motor, type IIC - HMN2C (12.27)
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HSPB8Heat shock 27kDa protein 8 | 12q24.23 | * Neuropathy, distal hereditary motor, type II - HMN2A (4.27, 4.28, 12.25, 14.65) * Rimmed vacuole myopathy - (4.27, 4.28, 12.25, 14.65) * Charcot-Marie-Tooth neuropathy Type 2L - CMT2L (4.27, 4.28, 12.25, 14.65)
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HSPD1Heat shock 60kDa protein 1 (chaperonin)(M) | 2q33.1 | * Spastic paraplegia 13 - SPG13 (15.8)
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| 1p36.1-p34 | * Schwartz-Jampel syndrome, type 1 - SJS1 (6.8) * Dyssegmental dysplasia, Silverman-Handmaker type - DDSH (6.8)
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