Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 122622
Gene Symbol: ADSS1
ADSS1 		adenylosuccinate synthase 1 0.722 0.385 2.8E-07
CUI: C4310754
Disease: MYOPATHY, DISTAL, 5
MYOPATHY, DISTAL, 5 		disease 0.700 None 1.000 0 2 2016 2017
Entrez Id: 122622
Gene Symbol: ADSS1
ADSS1 		adenylosuccinate synthase 1 0.722 0.385 2.8E-07
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 1
Entrez Id: 122622
Gene Symbol: ADSS1
ADSS1 		adenylosuccinate synthase 1 0.722 0.385 2.8E-07
CUI: C1858719
Disease: Facial muscle weakness of muscles innervated by CN VII
Facial muscle weakness of muscles innervated by CN VII 		phenotype 0.100 None 0 1
Entrez Id: 122622
Gene Symbol: ADSS1
ADSS1 		adenylosuccinate synthase 1 0.722 0.385 2.8E-07
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		phenotype 0.100 None 0 1
Entrez Id: 122622
Gene Symbol: ADSS1
ADSS1 		adenylosuccinate synthase 1 0.722 0.385 2.8E-07
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		disease 0.100 None 0 1
Entrez Id: 122622
Gene Symbol: ADSS1
ADSS1 		adenylosuccinate synthase 1 0.722 0.385 2.8E-07
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		phenotype 0.100 None 0 1
Entrez Id: 122622
Gene Symbol: ADSS1
ADSS1 		adenylosuccinate synthase 1 0.722 0.385 2.8E-07
CUI: C0162154
Disease: Atrophic scar
Atrophic scar 		phenotype 0.100 None 0 1
Entrez Id: 122622
Gene Symbol: ADSS1
ADSS1 		adenylosuccinate synthase 1 0.722 0.385 2.8E-07
CUI: C0022575
Disease: Keratoconjunctivitis Sicca
Keratoconjunctivitis Sicca 		disease 0.100 None 0 1
Entrez Id: 122622
Gene Symbol: ADSS1
ADSS1 		adenylosuccinate synthase 1 0.722 0.385 2.8E-07
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group 0.100 None 0 1
Entrez Id: 122622
Gene Symbol: ADSS1
ADSS1 		adenylosuccinate synthase 1 0.722 0.385 2.8E-07
CUI: C4692845
Disease: BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO
BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO 		phenotype 0.100 None 0 1