ADSS1, adenylosuccinate synthase 1, 122622

N. diseases: 49; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310754
Disease: MYOPATHY, DISTAL, 5
MYOPATHY, DISTAL, 5 		0.700 GeneticVariation disease CLINVAR
CUI: C4310754
Disease: MYOPATHY, DISTAL, 5
MYOPATHY, DISTAL, 5 		0.700 GeneticVariation disease UNIPROT ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy. 26506222 2016
CUI: C0026848
Disease: Myopathy
Myopathy 		0.130 GeneticVariation group BEFREE In vitro and in vivo assays using myoblast cells and zebrafish models were performed to examine the ADSSL1 mutation causing myopathy pathogenesis. 26506222 2016
CUI: C0577655
Disease: Quadriceps weakness
Quadriceps weakness 		0.110 GeneticVariation phenotype BEFREE Patients with ADSSL1 mutations demonstrated distal muscle weakness in adolescence, followed by quadriceps muscle weakness in the early 30s. 28268051 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 GeneticVariation disease GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		0.030 GeneticVariation group BEFREE Distal myopathy with ADSSL1 mutations in Korean patients. 28268051 2017
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		0.030 GeneticVariation group BEFREE We suggest that mutations in ADSSL1 are the novel genetic cause of the autosomal recessive adolescent onset distal myopathy. 26506222 2016
CUI: C0030552
Disease: Paresis
Paresis 		0.010 GeneticVariation phenotype BEFREE Patients with ADSSL1 mutations demonstrated distal muscle weakness in adolescence, followed by quadriceps muscle weakness in the early 30s. 28268051 2017
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.010 GeneticVariation phenotype BEFREE Patients with ADSSL1 mutations demonstrated distal muscle weakness in adolescence, followed by quadriceps muscle weakness in the early 30s. 28268051 2017
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 GeneticVariation disease BEFREE A similar frequency of ADSS1 deletion was observed in human LAC cell lines, suggesting relevance in human lung cancer. 19603421 2009
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 GeneticVariation disease BEFREE A similar frequency of ADSS1 deletion was observed in human LAC cell lines, suggesting relevance in human lung cancer. 19603421 2009
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 GeneticVariation disease BEFREE A similar frequency of ADSS1 deletion was observed in human LAC cell lines, suggesting relevance in human lung cancer. 19603421 2009
CUI: C4310754
Disease: MYOPATHY, DISTAL, 5
MYOPATHY, DISTAL, 5 		0.700 Biomarker disease GENOMICS_ENGLAND ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy. 26506222 2016
CUI: C4310754
Disease: MYOPATHY, DISTAL, 5
MYOPATHY, DISTAL, 5 		0.700 Biomarker disease GENOMICS_ENGLAND ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy. 26506222 2016
CUI: C4310754
Disease: MYOPATHY, DISTAL, 5
MYOPATHY, DISTAL, 5 		0.700 Biomarker disease CTD_human
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		0.200 Biomarker disease RGD Adenine nucleotide metabolism in hearts of diabetic rats. Comparison to diaphragm, liver, and kidney. 3360219 1988
CUI: C0153519
Disease: Malignant neoplasm of connective and other soft tissue, site unspecified
Malignant neoplasm of connective and other soft tissue, site unspecified 		0.200 Biomarker group RGD Isozyme shift of adenylosuccinate synthase in rat and human neoplasms. 2560335 1989
CUI: C0026848
Disease: Myopathy
Myopathy 		0.130 Biomarker group HPO
CUI: C0026848
Disease: Myopathy
Myopathy 		0.130 Biomarker group BEFREE To understand the characteristics of ADSSL1 myopathy, we investigated the clinical manifestation in Korean patients with ADSSL1 mutations. 28268051 2017
CUI: C0026848
Disease: Myopathy
Myopathy 		0.130 Biomarker group BEFREE This is the first study on the altered expression of transcripts in muscle tissues from patients with ADSSL1 myopathy. 30853170 2019
CUI: C0577655
Disease: Quadriceps weakness
Quadriceps weakness 		0.110 Biomarker phenotype HPO
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		0.100 Biomarker disease HPO
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		0.100 Biomarker phenotype HPO
CUI: C0239043
Disease: Difficulty chewing
Difficulty chewing 		0.100 Biomarker phenotype HPO
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		0.100 Biomarker phenotype HPO