Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3542549
Disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease CLINVAR TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. 26542466 2016
CUI: C3542549
Disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE 		0.700 CausalMutation disease CLINVAR TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. 26542466 2016
CUI: C3542549
Disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. 26542466 2016
CUI: C3542549
Disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. 26542466 2016
CUI: C3542549
Disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease CLINVAR TECPR2 Cooperates with LC3C to Regulate COPII-Dependent ER Export. 26431026 2015
CUI: C3542549
Disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. 25529582 2015
CUI: C3542549
Disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease CLINVAR Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. 23176824 2012
CUI: C3542549
Disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE 		0.700 CausalMutation disease CLINVAR Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. 23176824 2012
CUI: C3542549
Disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. 23176824 2012
CUI: C3542549
Disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE 		0.700 GermlineCausalMutation disease ORPHANET Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. 23176824 2012
CUI: C3542549
Disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease CTD_human
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.310 Biomarker disease BEFREE Variants in this gene have been found responsible for a recently described form of hereditary spastic paraplegia called SPG49 in two previous reports. 27406698 2016
CUI: C0338473
Disease: Neuroaxonal Dystrophies
Neuroaxonal Dystrophies 		0.310 Biomarker group CTD_human TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs. 26555167 2015
CUI: C0338473
Disease: Neuroaxonal Dystrophies
Neuroaxonal Dystrophies 		0.310 Biomarker group BEFREE TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs. 26555167 2015
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.310 Biomarker phenotype CTD_human The discovered TECPR2 mutation implicates autophagy, a central intracellular mechanism, in spastic paraparesis. 23176824 2012
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.310 GeneticVariation phenotype BEFREE The discovered TECPR2 mutation implicates autophagy, a central intracellular mechanism, in spastic paraparesis. 23176824 2012
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.310 Biomarker disease CTD_human Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. 23176824 2012
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy 		0.300 Biomarker disease CTD_human TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs. 26555167 2015
CUI: C0751716
Disease: Adult Neuroaxonal Dystrophy
Adult Neuroaxonal Dystrophy 		0.300 Biomarker disease CTD_human TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs. 26555167 2015
CUI: C0751717
Disease: Juvenile Neuroaxonal Dystrophy
Juvenile Neuroaxonal Dystrophy 		0.300 Biomarker disease CTD_human TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs. 26555167 2015
CUI: C0751718
Disease: Late Infantile Neuroaxonal Dystrophy
Late Infantile Neuroaxonal Dystrophy 		0.300 Biomarker disease CTD_human TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs. 26555167 2015
CUI: C0751602
Disease: Hereditary Autosomal Dominant Spastic Paraplegia
Hereditary Autosomal Dominant Spastic Paraplegia 		0.300 Biomarker disease CTD_human Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. 23176824 2012
CUI: C0751603
Disease: Autosomal Recessive Hereditary Spastic Paraplegia
Autosomal Recessive Hereditary Spastic Paraplegia 		0.300 Biomarker disease CTD_human Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. 23176824 2012
CUI: C0751604
Disease: Hereditary X-Linked Recessive Spastic Paraplegia
Hereditary X-Linked Recessive Spastic Paraplegia 		0.300 Biomarker disease CTD_human Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. 23176824 2012
CUI: C0751605
Disease: X-Linked, Spastic Paraplegia, Hereditary
X-Linked, Spastic Paraplegia, Hereditary 		0.300 Biomarker disease CTD_human Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. 23176824 2012