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 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 Distal myopathy with ADSSL1 mutations in Korean patients. 28268051 2017
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 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: 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 GermlineCausalMutation disease ORPHANET Electron Microscopy Pathology of ADSSL1 Myopathy. 27868399 2017
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: 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: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 CausalMutation disease 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: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 CausalMutation disease CLINVAR
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 GeneticVariation disease GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
CUI: C1836451
Disease: Distal lower limb amyotrophy
Distal lower limb amyotrophy 		0.100 Biomarker disease HPO
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		0.100 Biomarker disease HPO
CUI: C4021523
Disease: Upper limb amyotrophy
Upper limb amyotrophy 		0.100 Biomarker disease HPO
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 AlteredExpression disease BEFREE These results implicate ADSS1 inactivation as a novel somatic alteration in lung carcinogenesis, and suggest that its selective deletion in LAC may be triggered by CIN. 19603421 2009
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
Cervical Intraepithelial Neoplasia 		0.010 Biomarker disease BEFREE Adss1 losses were also found to be significantly associated with a more extensive CIN phenotype in the primary mouse tumors. 19603421 2009
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: C1332922
Disease: Cervical Squamous Intraepithelial Neoplasia
Cervical Squamous Intraepithelial Neoplasia 		0.010 Biomarker disease BEFREE Adss1 losses were also found to be significantly associated with a more extensive CIN phenotype in the primary mouse tumors. 19603421 2009
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