ASS1, argininosuccinate synthase 1, 445

N. diseases: 163; N. variants: 86
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 16 46 0.010 None 1.000 1 1994 1994
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 21 8 0.010 None 1.000 1 1994 1994
CUI: C0042963
Disease: Vomiting
Vomiting
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 303 23 0.100 None 0
CUI: C0042164
Disease: Uveitis
Uveitis
disease Eye Diseases Disease or Syndrome 247 43 0.200 None 1.000 1 2002 2002
CUI: C0154246
Disease: Urea Cycle Disorders, Inborn
Urea Cycle Disorders, Inborn
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 14 0.040 None 1.000 4 2010 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.020 None 1.000 2 2007 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.040 None 1.000 4 2014 2018
CUI: C0040822
Disease: Tremor
Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.010 None 1.000 1 1993 1993
CUI: C1861305
Disease: TARSAL-CARPAL COALITION SYNDROME
TARSAL-CARPAL COALITION SYNDROME
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 261 13 0.010 None 1.000 1 1993 1993
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.010 None 1.000 1 2018 2018
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 1143 75 0.010 None 1.000 1 2018 2018
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 972 125 0.020 None 1.000 2 2012 2018
CUI: C0036690
Disease: Septicemia
Septicemia
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1285 141 0.010 None 1.000 1 2011 2011
CUI: C0243026
Disease: Sepsis
Sepsis
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.010 None 1.000 1 2011 2011
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
Secondary malignant neoplasm of lymph node
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188 0.020 None 1.000 2 2014 2014
Secondary malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 1370 20 0.010 None 1.000 1 2010 2010
Secondary malignant neoplasm of liver
disease Digestive System Diseases; Neoplasms Neoplastic Process 951 34 0.010 None 1.000 1 2015 2015
CUI: C0205944
Disease: Sarcoma, Epithelioid
Sarcoma, Epithelioid
disease Neoplasms Neoplastic Process 66 0.010 None 1.000 1 2016 2016
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
disease Neoplasms; Eye Diseases Neoplastic Process 853 193 0.010 None 1.000 1 2007 2007
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2084 288 0.020 None 1.000 2 2007 2019
CUI: C0278689
Disease: Recurrent ovarian cancer
Recurrent ovarian cancer
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 71 1 0.010 None 1.000 1 2009 2009
CUI: C4684861
Disease: Recurrent Malignant Glioma
Recurrent Malignant Glioma
disease Neoplasms Neoplastic Process 13 0.010 None 1.000 1 2019 2019
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 125 2 0.020 None 1.000 2 2013 2014
CUI: C1839531
Disease: Protein avoidance
Protein avoidance
phenotype Finding 5 1 0.100 None 0