PDYN, prodynorphin, 5173

N. diseases: 197; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853250
Disease: SPINOCEREBELLAR ATAXIA 23
SPINOCEREBELLAR ATAXIA 23
0.740 GermlineCausalMutation disease ORPHANET
CUI: C1853250
Disease: SPINOCEREBELLAR ATAXIA 23
SPINOCEREBELLAR ATAXIA 23
0.740 CausalMutation disease CLINVAR
CUI: C1853250
Disease: SPINOCEREBELLAR ATAXIA 23
SPINOCEREBELLAR ATAXIA 23
0.740 GeneticVariation disease CLINVAR
CUI: C1853250
Disease: SPINOCEREBELLAR ATAXIA 23
SPINOCEREBELLAR ATAXIA 23
0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C1853250
Disease: SPINOCEREBELLAR ATAXIA 23
SPINOCEREBELLAR ATAXIA 23
0.740 Biomarker disease CTD_human
CUI: C0013362
Disease: Dysarthria
Dysarthria
0.100 Biomarker disease HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex
0.100 Biomarker phenotype HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
0.100 Biomarker phenotype HPO
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy
0.100 Biomarker disease HPO
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria
0.100 Biomarker phenotype HPO
Central nervous system demyelination
0.100 Biomarker disease HPO
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia
0.100 Biomarker disease HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
0.100 Biomarker disease 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: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy
0.100 Biomarker disease HPO
CUI: C1321329
Disease: Slowed saccades
Slowed saccades
0.100 Biomarker phenotype HPO
Impaired vibration sensation in the lower limbs
0.100 Biomarker phenotype HPO
Neuronal loss in central nervous system
0.100 Biomarker phenotype HPO
CUI: C1853767
Disease: Impaired distal vibration sensation
Impaired distal vibration sensation
0.100 Biomarker phenotype HPO
CUI: C1854494
Disease: Slow progression
Slow progression
0.100 Biomarker phenotype HPO
CUI: C1856691
Disease: Impaired proprioception
Impaired proprioception
0.100 Biomarker phenotype HPO
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.100 GeneticVariation phenotype BEFREE 16q-ADCA (OMIM no.117210) is an autosomal dominant spinocerebellar ataxia (AD-SCA) characterized by late-onset pure cerebellar ataxia and -16C>T substitution of the puratrophin-1 gene. 19444286 2009
Autosomal dominant cerebellar ataxia
0.100 GeneticVariation disease BEFREE Autosomal dominant cerebellar ataxia type III (ADCA III) is a relatively benign, late-onset, slowly progressive neurological disorder characterized by an uncomplicated cerebellar syndrome. 10417284 1999
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.010 Biomarker disease BEFREE Squamous cell carcinoma (SCC) cell culture treated with an ETBR agonist (10(-4)M, 10(-5)M, and 10(-6) M BQ-3020) significantly increased the production of beta-endorphin without any effects on leu-enkephalin or dynorphin. 20206445 2010