RUBCN, rubicon autophagy regulator, 9711

N. diseases: 36; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3810326
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 		0.600 GermlineCausalMutation disease ORPHANET We previously described a new form of recessive ataxia, Salih ataxia, in a large consanguineous Saudi Arabian family with three affected children carrying a new identified mutation in the KIAA0226 gene (c.2624delC; p.Ala875ValfsX146) coding for Rubicon. 23728897 2013
CUI: C3810326
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 		0.600 Biomarker disease GENOMICS_ENGLAND Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia. 20826435 2010
CUI: C3810326
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 		0.600 Biomarker disease GENOMICS_ENGLAND Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia. 20826435 2010
CUI: C3810326
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 		0.600 CausalMutation disease CLINVAR
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
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.210 Biomarker disease BEFREE Abbreviations: ALB: albumin; ARHGDIB: Rho GDP dissociation inhibitor beta; APOL1: apolipoprotein L1; ATG5: autophagy related 5; ATG7: autophagy related 7; ATG16L2: autophagy related 16 like 2; BECN1: beclin 1; CDKN1B: cyclin dependent kinase inhibitor 1B; CLEC16A, C-type lectin domain containing 16A; CYBB: cytochrome b-245 beta chain; DC: dendritic cell; DRAM1: DNA damage regulated autophagy modulator 1; eQTL: expression quantitative trait loci; GWAS: genome-wide association study; IFNA: interferon alpha; IRGM: immunity related GTPase M; LRRK2: leucine rich repeat kinase 2; MAP1LC3B: microtubule associated protein 1 light chain 3 beta; MTMR3: myotubularin related protein 3; LAP" LC3-associated phagocytosis; LN: lupus nephritis; NOD: non-obese diabetic; NPHS2: NPHS2, podocin; PBMC: peripheral blood mononuclear cell; RUBCN: rubicon autophagy regulator; SLE: systemic lupus erythematosus. 30755075 2019
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.210 Biomarker disease MGD Noncanonical autophagy inhibits the autoinflammatory, lupus-like response to dying cells. 27096368 2016
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 Biomarker phenotype BEFREE The rundataxin pathway appears therefore distinct from the ataxia pathways involving deficiency in mitochondrial or nuclear proteins and broadens the range of mechanisms leading to recessive ataxias. 20826435 2010
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 Biomarker phenotype HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 CausalMutation disease CLINVAR
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		0.100 Biomarker phenotype HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		0.100 Biomarker phenotype HPO
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 CausalMutation disease CLINVAR
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO