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: 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: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE Adss1 losses were also found to be significantly associated with a more extensive CIN phenotype in the primary mouse tumors. 19603421 2009
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: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 AlteredExpression phenotype 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: 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: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		0.030 Biomarker group BEFREE ADSSL1 myopathy was recently identified as the cause of muscular disorders in Korean patients with distal myopathy. 30853170 2019
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: 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
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
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 CausalMutation disease CLINVAR
CUI: C0427055
Disease: Facial Paresis
Facial Paresis 		0.100 Biomarker phenotype HPO