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 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 GeneticVariation disease CLINVAR TECPR2 Cooperates with LC3C to Regulate COPII-Dependent ER Export. 26431026 2015
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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 GeneticVariation group BEFREE TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. 26542466 2016
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C1853959
Disease: Birdshot chorioretinopathy
Birdshot chorioretinopathy 		0.100 GeneticVariation disease GWASDB A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy. 24957906 2014
CUI: C1853959
Disease: Birdshot chorioretinopathy
Birdshot chorioretinopathy 		0.100 GeneticVariation disease GWASCAT A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy. 24957906 2014
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.030 GeneticVariation group BEFREE Autophagy defects were detected also in SPG49, a complicated form of hereditary spastic paraparesis (cHSP) associated with mutations in the TECPR2 gene, suggesting a role of autophagy also in this heterogeneous group of neurodegenerative diseases. 24284334 2014
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.030 GeneticVariation group BEFREE The discovered TECPR2 mutation reveals for the first time a role for aberrant autophagy in a major class of Mendelian neurodegenerative diseases, and suggests mechanisms by which impaired autophagy may impinge on a broader scope of neurodegeneration. 23439247 2013
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial 		0.010 GeneticVariation disease BEFREE TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. 26542466 2016
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.010 GeneticVariation disease BEFREE This canine NAD form displays etiologic parallels to an inherited TECPR2 associated type of human hereditary spastic paraparesis (HSP). 26555167 2015
CUI: C0259749
Disease: Autonomic neuropathy
Autonomic neuropathy 		0.010 GeneticVariation disease BEFREE 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 CTD_human
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 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 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 Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. 25529582 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: 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: 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: 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: 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: 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