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: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 280 67 0.100 None 0
CUI: C0041105
Disease: Trismus
Trismus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 18 2 0.100 None 0
CUI: C1856409
Disease: Dilation of lateral ventricles
Dilation of lateral ventricles 		phenotype Finding 23 3 0.100 None 0
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 179 61 0.100 None 0
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia 		phenotype Finding 29 2 0.100 None 0
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C0151818
Disease: Opisthotonus
Opisthotonus 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 32 2 0.100 None 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 539 19 0.100 None 0
CUI: C1853737
Disease: Prominent occiput
Prominent occiput 		phenotype Finding 53 1 0.100 None 0
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		phenotype Finding 105 3 0.100 None 0
CUI: C0152421
Disease: Macrotia
Macrotia 		disease Congenital Abnormality 188 18 0.100 None 0
CUI: C1847515
Disease: Paroxysmal involuntary eye movements
Paroxysmal involuntary eye movements 		phenotype Finding 39 2 0.100 None 0
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly 		phenotype Finding 62 0.100 None 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding 169 17 0.100 None 0
CUI: C1857045
Disease: Abnormality of the philtrum
Abnormality of the philtrum 		phenotype Finding 6 0.100 None 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		phenotype Finding 149 5 0.100 None 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 265 34 0.100 None 0
CUI: C2749675
Disease: Cortical gyral simplification
Cortical gyral simplification 		phenotype Finding 39 2 0.100 None 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology 		phenotype Finding 39 0.100 None 0
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.100 None 0
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.100 None 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype Finding 305 22 0.100 None 0
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		phenotype Finding 97 12 0.100 None 0
CUI: C1866241
Disease: Broad foot
Broad foot 		phenotype Musculoskeletal Diseases Finding 30 0.100 None 0
CUI: C0033999
Disease: Pterygium
Pterygium 		disease Eye Diseases Disease or Syndrome 216 5 0.100 None 0