NOP56, NOP56 ribonucleoprotein, 10528

N. diseases: 64; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.300 Biomarker group CTD_human A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients. 21364753 2011
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		0.100 Biomarker group HPO
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases 		0.020 Biomarker group BEFREE In particular, SCA36 is characterized by a late-onset, slowly progressive cerebellar syndrome typically associated with sensorineural hearing loss. 27862279 2017
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases 		0.020 GeneticVariation group BEFREE Spinocerebellar ataxia type 36 is a late-onset, slowly progressive cerebellar syndrome with motor neuron degeneration that is caused by expansions of a hexanucleotide repeat (GGCCTG) in the noncoding region of NOP56 gene, with a histopathological feature of RNA foci formation in postmortem tissues. 28918022 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE Thus, Nol5a expands the link between Myc-induced regulation of nucleolar target genes, which are rate limiting for cell transformation and tumor growth. 24013231 2014
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 GeneticVariation group BEFREE Spinocerebellar ataxia 36 (SCA36) is an autosomal-dominant neurodegenerative disorder caused by a large (>650) hexanucleotide GGCCTG repeat expansion in the first intron of the NOP56 gene. 25476002 2015
CUI: C0235874
Disease: Disease Exacerbation
Disease Exacerbation 		0.300 Biomarker phenotype CTD_human A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients. 21364753 2011
CUI: C0012569
Disease: Diplopia
Diplopia 		0.100 Biomarker phenotype HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0042571
Disease: Vertigo
Vertigo 		0.100 Biomarker phenotype HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		0.100 Biomarker phenotype HPO
CUI: C0234376
Disease: Action Tremor
Action Tremor 		0.100 Biomarker phenotype HPO
CUI: C0239548
Disease: Fasciculation, Tongue
Fasciculation, Tongue 		0.100 Biomarker phenotype HPO
CUI: C0239842
Disease: Tremor of hands
Tremor of hands 		0.100 Biomarker phenotype HPO
CUI: C0239882
Disease: Head tremor
Head tremor 		0.100 Biomarker phenotype HPO
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0.100 Biomarker phenotype HPO
CUI: C0344232
Disease: Blurred vision
Blurred vision 		0.100 Biomarker phenotype HPO
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		0.100 Biomarker phenotype HPO
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		0.100 Biomarker phenotype HPO
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.100 Biomarker phenotype HPO
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		0.100 Biomarker phenotype HPO
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		0.100 Biomarker phenotype HPO
CUI: C1321329
Disease: Slowed saccades
Slowed saccades 		0.100 Biomarker phenotype HPO