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 GermlineCausalMutation disease ORPHANET Distal myopathy with ADSSL1 mutations in Korean patients. 28268051 2017
CUI: C4310754
Disease: MYOPATHY, DISTAL, 5
MYOPATHY, DISTAL, 5 		0.700 GermlineCausalMutation disease ORPHANET Electron Microscopy Pathology of ADSSL1 Myopathy. 27868399 2017
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 GermlineCausalMutation disease ORPHANET ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy. 26506222 2016
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: C4310754
Disease: MYOPATHY, DISTAL, 5
MYOPATHY, DISTAL, 5 		0.700 CausalMutation disease CLINVAR
CUI: C4310754
Disease: MYOPATHY, DISTAL, 5
MYOPATHY, DISTAL, 5 		0.700 Biomarker disease CTD_human
CUI: C4310754
Disease: MYOPATHY, DISTAL, 5
MYOPATHY, DISTAL, 5 		0.700 GeneticVariation disease CLINVAR
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: 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: 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: 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 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: C0026848
Disease: Myopathy
Myopathy 		0.130 Biomarker group HPO
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: C0577655
Disease: Quadriceps weakness
Quadriceps weakness 		0.110 Biomarker phenotype HPO
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 GeneticVariation disease GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 CausalMutation disease CLINVAR
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 CausalMutation group CLINVAR
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		0.100 Biomarker disease HPO
CUI: C0022575
Disease: Keratoconjunctivitis Sicca
Keratoconjunctivitis Sicca 		0.100 CausalMutation disease CLINVAR
CUI: C0162154
Disease: Atrophic scar
Atrophic scar 		0.100 CausalMutation phenotype CLINVAR
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		0.100 CausalMutation phenotype CLINVAR
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		0.100 Biomarker phenotype HPO