Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C1866231
Disease: Full cheeks
Full cheeks 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		0.100 Biomarker phenotype HPO
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: 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: 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
CUI: C4721916
Disease: HMSN Type V
HMSN Type V 		0.300 Biomarker disease CTD_human Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. 23176824 2012
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: 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: 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: 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 TECPR2 Cooperates with LC3C to Regulate COPII-Dependent ER Export. 26431026 2015
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.010 Biomarker disease BEFREE TECPR2-deficient HSP patient cells display alterations in SEC24D abundance and ER export efficiency. 26431026 2015
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		0.010 Biomarker group BEFREE A mutation in the gene encoding for Tectonin β-propeller containing protein 2 (TECPR2) causes HSP that is complicated by neurological symptoms. 26431026 2015
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