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: C3472711
Disease: Spinocerebellar ataxia 36
Spinocerebellar ataxia 36 		0.690 GeneticVariation disease BEFREE A hexanucleotide GGCCTG repeat expansion in intron 1 of the nucleolar protein 56 gene causes spinocerebellar ataxia type 36 (SCA36), which is a relatively pure cerebellar ataxia with progressive motor neuron involvement. 30610877 2019
CUI: C3472711
Disease: Spinocerebellar ataxia 36
Spinocerebellar ataxia 36 		0.690 Biomarker disease BEFREE Spinocerebellar ataxia 36 (SCA36): «Costa da Morte ataxia». 25593102 2018
CUI: C3472711
Disease: Spinocerebellar ataxia 36
Spinocerebellar ataxia 36 		0.690 GeneticVariation disease 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: C3472711
Disease: Spinocerebellar ataxia 36
Spinocerebellar ataxia 36 		0.690 GeneticVariation disease BEFREE To assess the frequency and clinical characteristics of SCA36 in patients from Mainland China, we combined the repeat-primed polymerase chain reaction method and Southern blot analysis to detect the GGCCTG hexanucleotide repeats of NOP56 in 364 probands with SCA, 126 probands with hereditary spastic paraplegia and 99 probands with amyotrophic lateral sclerosis (ALS). 26661328 2016
CUI: C3472711
Disease: Spinocerebellar ataxia 36
Spinocerebellar ataxia 36 		0.690 Biomarker disease 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: C3472711
Disease: Spinocerebellar ataxia 36
Spinocerebellar ataxia 36 		0.690 GeneticVariation disease BEFREE Spinocerebellar ataxia type 36 (SCA36), also called Asidan, is an autosomal-dominant neurodegenerative disorder identified as a hexanucleotide GGCCTG repeat expansion in the first intron 1 of the NOP56 gene. 24985895 2014
CUI: C3472711
Disease: Spinocerebellar ataxia 36
Spinocerebellar ataxia 36 		0.690 GeneticVariation disease BEFREE To characterize the phenotype of spinocerebellar ataxia type 36 (SCA36), a novel dominant disorder (nicknamed "Asidan") caused by a hexanucleotide GGCCTG repeat expansion in intron 1 of the NOP56 gene. 22744658 2012
CUI: C3472711
Disease: Spinocerebellar ataxia 36
Spinocerebellar ataxia 36 		0.690 GeneticVariation disease BEFREE We found the presence of the spinocerebellar ataxia 36 mutation co-segregating with disease in these families in whom we had previously identified an ~0.8 Mb linkage region to chromosome 20 p. Subsequent screening revealed the NOP56 expansion in eight additional Galician ataxia kindreds. 22492559 2012
CUI: C3472711
Disease: Spinocerebellar ataxia 36
Spinocerebellar ataxia 36 		0.690 GeneticVariation disease BEFREE Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. 21683323 2011
CUI: C3472711
Disease: Spinocerebellar ataxia 36
Spinocerebellar ataxia 36 		0.690 Biomarker disease GENOMICS_ENGLAND
CUI: C3472711
Disease: Spinocerebellar ataxia 36
Spinocerebellar ataxia 36 		0.690 GermlineCausalMutation disease ORPHANET
CUI: C3472711
Disease: Spinocerebellar ataxia 36
Spinocerebellar ataxia 36 		0.690 CausalMutation disease CLINVAR
CUI: C3472711
Disease: Spinocerebellar ataxia 36
Spinocerebellar ataxia 36 		0.690 Biomarker disease GENOMICS_ENGLAND
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.300 Biomarker disease CTD_human c-Myc targeted regulators of cell metabolism in a transgenic mouse model of papillary lung adenocarcinoma. 27602772 2016
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.300 Biomarker disease CTD_human A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients. 21364753 2011
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: 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: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.300 Biomarker disease CTD_human A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients. 21364753 2011
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.300 Biomarker disease CTD_human
CUI: C0752120
Disease: Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 1 		0.300 Biomarker disease CTD_human
CUI: C0752121
Disease: Spinocerebellar Ataxia Type 2
Spinocerebellar Ataxia Type 2 		0.300 Biomarker disease CTD_human
CUI: C0752122
Disease: Spinocerebellar Ataxia Type 4
Spinocerebellar Ataxia Type 4 		0.300 Biomarker disease CTD_human
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5 		0.300 Biomarker disease CTD_human
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
Spinocerebellar Ataxia Type 6 (disorder) 		0.300 Biomarker disease CTD_human
CUI: C0752125
Disease: Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia Type 7 		0.300 Biomarker disease CTD_human