PSAT1, phosphoserine aminotransferase 1, 29968

N. diseases: 285; N. variants: 9
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: C1970253
Disease: Phosphoserine Aminotransferase Deficiency
Phosphoserine Aminotransferase Deficiency 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 2 2 0.710 None 1.000 2 2 2007 2020
CUI: C4022973
Disease: Hypoglycinemia
Hypoglycinemia 		phenotype Finding 2 0.100 None 0
CUI: C4015019
Disease: NEU-LAXOVA SYNDROME 2
NEU-LAXOVA SYNDROME 2 		disease Disease or Syndrome 3 4 0.610 strong 1.000 4 4 2007 2017
CUI: C4551478
Disease: NEU-LAXOVA SYNDROME 1
NEU-LAXOVA SYNDROME 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 7 0.300 moderate 1.000 1 2007 2007
CUI: C4022971
Disease: Hyposerinemia
Hyposerinemia 		phenotype Finding 3 0.100 None 0
CUI: C4023478
Disease: EEG with focal sharp waves
EEG with focal sharp waves 		phenotype Finding 3 0.100 None 0
CUI: C0578475
Disease: Cyanotic attack
Cyanotic attack 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 4 3 0.100 None 0
CUI: C1861696
Disease: EAR WAX, WET/DRY
EAR WAX, WET/DRY 		disease Disease or Syndrome 6 1 0.010 None 1.000 1 2018 2018
CUI: C1857045
Disease: Abnormality of the philtrum
Abnormality of the philtrum 		phenotype Finding 6 0.100 None 0
CUI: C0263978
Disease: Disorder of soft tissue
Disorder of soft tissue 		group Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 7 0.010 None 1.000 1 2002 2002
CUI: C0239783
Disease: Inguinal pain
Inguinal pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 8 0.010 None 1.000 1 2018 2018
CUI: C0860609
Disease: Inappropriate crying
Inappropriate crying 		phenotype Finding 8 2 0.100 None 0
CUI: C4022908
Disease: Cerebral white matter hypoplasia
Cerebral white matter hypoplasia 		phenotype Finding 8 3 0.100 None 0
CUI: C4727179
Disease: Castration-Sensitive Prostate Carcinoma
Castration-Sensitive Prostate Carcinoma 		disease Neoplastic Process 9 0.010 None 1.000 1 2009 2009
CUI: C4744712
Disease: Advanced Prostate Carcinoma
Advanced Prostate Carcinoma 		disease Neoplastic Process 9 0.010 None 1.000 1 2004 2004
CUI: C0265218
Disease: Neu-Laxova syndrome
Neu-Laxova syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 10 0.610 moderate 1.000 2 2014 2019
CUI: C1321898
Disease: Blood in stool
Blood in stool 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Sign or Symptom 13 2 0.020 None 1.000 2 2019 2019
CUI: C2314994
Disease: Infarction of spinal cord
Infarction of spinal cord 		disease Nervous System Diseases; Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 14 1 0.010 None 1.000 1 2019 2019
CUI: C0268559
Disease: Hyperglycinemia
Hyperglycinemia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 14 0.100 None 0
CUI: C0796149
Disease: Scott Syndrome
Scott Syndrome 		disease Hemic and Lymphatic Diseases Disease or Syndrome 15 0.010 None 1.000 1 2016 2016
CUI: C1837835
Disease: Bilateral talipes equinovarus
Bilateral talipes equinovarus 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 16 6 0.100 None 0
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 17 124 0.010 None 1.000 1 2019 2019
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		phenotype Finding 17 8 0.100 None 0
CUI: C4759295
Disease: Non-metastatic prostate cancer
Non-metastatic prostate cancer 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 18 0.050 None 1.000 5 2017 2019
CUI: C0041105
Disease: Trismus
Trismus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 18 2 0.100 None 0