PSPH, phosphoserine phosphatase, 5723

N. diseases: 114; N. variants: 13
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: C1291463
Disease: Deficiency of phosphoserine phosphatase
Deficiency of phosphoserine phosphatase 		disease Disease or Syndrome 1 3 0.700 None 1.000 3 3 2004 2014
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 strong 1.000 1 2014 2014
CUI: C4022971
Disease: Hyposerinemia
Hyposerinemia 		phenotype Finding 3 0.100 None 0
CUI: C0085547
Disease: Phenylketonuria, Maternal
Phenylketonuria, Maternal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Disease or Syndrome 6 2 0.200 None 1.000 1 1982 1982
CUI: C0030568
Disease: Parkinson Disease, Postencephalitic
Parkinson Disease, Postencephalitic 		disease Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2003 2003
CUI: C0523888
Disease: Serine measurement
Serine measurement 		phenotype Laboratory Procedure 9 18 0.100 None 1.000 1 2 2019 2019
CUI: C4025231
Disease: Chronic calcifying pancreatitis
Chronic calcifying pancreatitis 		disease Digestive System Diseases Disease or Syndrome 10 0.010 None 1.000 1 1989 1989
CUI: C3714509
Disease: Nutrition Disorders
Nutrition Disorders 		group Nutritional and Metabolic Diseases Disease or Syndrome 12 0.010 None 1.000 1 1992 1992
CUI: C0750905
Disease: Amino Acid Metabolism, Inherited Disorders
Amino Acid Metabolism, Inherited Disorders 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 13 0.300 None 1.000 1 2004 2004
CUI: C1274728
Disease: Atrophic acne scar
Atrophic acne scar 		disease Disease or Syndrome 13 0.010 None 1.000 1 2019 2019
CUI: C0085923
Disease: soft neurological signs
soft neurological signs 		phenotype Sign or Symptom 15 1 0.020 None 1.000 2 2018 2018
CUI: C0338460
Disease: Argyrophilic grain disease
Argyrophilic grain disease 		disease Disease or Syndrome 18 7 0.010 None 1.000 1 2004 2004
CUI: C1843369
Disease: Vertical supranuclear gaze palsy
Vertical supranuclear gaze palsy 		disease Disease or Syndrome 18 2 0.010 None 1.000 1 2018 2018
CUI: C0002514
Disease: Amino Acid Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 20 0.300 None 1.000 1 2004 2004
CUI: C0011268
Disease: Senile dementia
Senile dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 21 0.010 None 1.000 1 2004 2004
CUI: C0162285
Disease: Edema of eyelid
Edema of eyelid 		phenotype Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases; Cardiovascular Diseases Pathologic Function 22 1 0.100 None 0
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement 		phenotype Laboratory Procedure 23 33 0.100 None 1.000 1 1 2014 2014
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 28 7 0.010 None 1.000 1 2019 2019
CUI: C0149781
Disease: Spontaneous pneumothorax
Spontaneous pneumothorax 		disease Respiratory Tract Diseases Disease or Syndrome 30 6 0.010 None 1.000 1 2017 2017
CUI: C4302185
Disease: Atypical Parkinsonism
Atypical Parkinsonism 		disease Nervous System Diseases Disease or Syndrome 30 6 0.010 None 1.000 1 2018 2018
CUI: C0523677
Disease: Glycine measurement
Glycine measurement 		phenotype Laboratory Procedure 32 68 0.100 None 1.000 2 3 2019 2019
CUI: C0393570
Disease: Corticobasal degeneration
Corticobasal degeneration 		disease Nervous System Diseases Disease or Syndrome 35 14 0.030 None 1.000 3 2003 2017
CUI: C1868193
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS
PNEUMOTHORAX, PRIMARY SPONTANEOUS 		disease Disease or Syndrome 46 15 0.040 None 1.000 4 2014 2019
CUI: C0034888
Disease: Rectal Prolapse
Rectal Prolapse 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 46 1 0.010 None 1.000 1 2017 2017
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 51 11 0.010 None 1.000 1 2013 2013