Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.010 AlteredExpression disease LHGDN Cystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminase. 16604191 2006
CUI: C0270764
Disease: Motor Neuron Disease, Lower
Motor Neuron Disease, Lower 		0.010 Biomarker disease BEFREE Interestingly, this mutation causing a loss-of-function of HSJ1 is linked to a pure lower motor neuron disease, strongly suggesting that HSJ1 also plays an important and specific role in motor neurons. 22522442 2012
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.010 GeneticVariation disease BEFREE Taken together, in our cohort of 90 probands, we confirm that HSJ1 mutations are a rare but detectable cause of autosomal recessive dHMN and CMT2. 25274842 2014
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked 		0.010 AlteredExpression disease BEFREE DNAJB2 functions as an adaptor molecule for the evacuation and degradation of proteins through the ubiquitin-proteasome system, and overexpression of DNAJB2 in models of the neurodegenerative disease spinobulbar muscular atrophy was shown to result in the reduction of protein inclusions. 20395441 2010
CUI: C1865384
Disease: Amyotrophy, monomelic
Amyotrophy, monomelic 		0.010 GeneticVariation disease BEFREE Sporadic juvenile muscular atrophy of the distal upper extremity or Hirayama's disease (HD) and autosomal dominant motor distal neuronopathy/axonopathy (CMT2D/dSMA-V), produced by glycyl-tRNA synthetase (GARS) gene mutations, share some clinical features including: young age of onset, predilection for the distal upper extremity, asymmetry, sparing of proximal muscles and unusual cold sensitivity. 19412816 2010
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.100 Biomarker phenotype HPO
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		0.100 Biomarker phenotype HPO
CUI: C1854494
Disease: Slow progression
Slow progression 		0.100 Biomarker phenotype HPO
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		0.100 Biomarker phenotype HPO
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		0.100 Biomarker group HPO
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.020 Biomarker group BEFREE They also suggest that CK2 inhibitors could release the full neuroprotective potential of HSJ1, and deserve future interest as therapeutic strategies for neurodegenerative disease. 28031292 2017
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.020 AlteredExpression group BEFREE DNAJB2 functions as an adaptor molecule for the evacuation and degradation of proteins through the ubiquitin-proteasome system, and overexpression of DNAJB2 in models of the neurodegenerative disease spinobulbar muscular atrophy was shown to result in the reduction of protein inclusions. 20395441 2010
CUI: C0026848
Disease: Myopathy
Myopathy 		0.010 AlteredExpression group BEFREE We conclude that DNAJB2 is expressed in mouse and human skeletal muscle at the neuromuscular junction of normal fibers, in the cytoplasm and membrane of regenerating fibers, and in protein aggregates and vacuoles in protein aggregate myopathies. 20395441 2010
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		0.010 GeneticVariation group BEFREE To determine the nature and frequency of HSJ1 mutations in patients with hereditary motor and hereditary motor and sensory neuropathies. 25274842 2014
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.010 GeneticVariation group BEFREE Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism. 27449489 2016
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.010 Biomarker group BEFREE We provide clinical and functional information on an HSJ1 splice-site mutation and report the detailed phenotype of 2 patients with CMT2, broadening the phenotypic spectrum of HSJ1-related neuropathies. 25274842 2014