Gene product table



Protein
Gene Symbol
All allelic disease phenotypes - locus/disease symbols
Heat shock 27kDa protein 1
HSPB1 (7q11.23)


* Charcot-Marie-Tooth neuropathy Type 2F - CMT2F (12.25, 14.53)
* Neuropathy, distal hereditary motor, type IIB - HMN2B (12.25, 14.53)
Heat shock 27kDa protein 3
HSPB3 (5q11.2)


* neuronopathy, distal hereditary motor, type IIC - HMN2C (12.26)
Heat shock 27kDa protein 8
HSPB8 (12q24.23)


* Rimmed vacuole myopathy - (4.27, 4.28, 12.24, 14.58)
* Neuropathy, distal hereditary motor, type II - HMN2A (4.27, 4.28, 12.24, 14.58)
* Charcot-Marie-Tooth neuropathy Type 2L - CMT2L (4.27, 4.28, 12.24, 14.58)
Heat shock 60kDa protein 1 (chaperonin)(M)
HSPD1 (2q33.1)


* Spastic paraplegia 13 - SPG13 (15.8)
Hect domain- and Ankyrin repeat- contaiing E3 Ubiquitin protein ligase 1
HACE1 (6q16.3)


* Spastic paraplegia and psychomotor retardation with or without seizures - SPPRS (15.86)
Hetergeneous nuclear ribonucleoprotein A2/B1
HNRNPA2B1 (7q15.2)


* Oculopharyngeal muscular dystrophy related to HNRNPA2B1 - (5.22, 5.38)
* Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia - IBMPFD2 (5.22, 5.38)
Heterogeneous nuclear ribonucleoprotein A1
HNRNPA1 (12q13.13)


* Myopathy, Distal 3 - MPD3 (3.35, 4.7, 12.73)
* Isolated inclusion body myopathy - IBMPFD3 (3.35, 4.7, 12.73)
* Amyotrophic lateral sclerosis 20 - ALS20 (3.35, 4.7, 12.73)
Heterogeneous nuclear ribonucleoprotein D-like
HNRNPDL (4q21)

* Limb-Girdle, Muscular dystrophy, type 1G - LGMD1G (1.18)
Hexokinase 1(M)
HK1 (10q22.1)


* Charcot-Marie-Tooth neuropathy Type 4G - CMT4G (14.31)
Hexosaminidase B
HEXB (5q13.3)


* Late onset spinal muscular atrophy related to HEXB - (12.107)
Histidine triad nucleotide binding protein 1
HINT1 (5q23.3)


* Neuronopathy, Distal hereditary motor related to HINT1 - (12.21, 14.85)
* Neuromyotonia and axonal neuropathy, autosomal recessive - NMAN (12.21, 14.85)
Histidyl-tRNA synthetase
HARS (5q31.3)


* Charcot-Marie-Tooth neuropathy Type 2W - CMT2W (14.65)
Homeobox D10
HOXD10 (2q31.1)


* Charcot-Marie-Tooth disease, congenital, vertical talus - (14.12)
HSP-40 homologue, subfamily B, number 6
DNAJB6 (7q36)


* LGMDD1 - (1.16, 4.24, 4.25)
Hyperpolarization activated cyclic nucleotide-gated potassium channel 4
HCN4 (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)
Hypothetical protein LOC9907 ?
AP5Z1 (7p22.2)

* Spastic paraplegia 48, autosomal recessive - SPG48 (15.48)