SDS, serine dehydratase, 10993

N. diseases: 138; N. variants: 7
Source: BEFREE ×
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: C0268563
Disease: Sarcosinemia
Sarcosinemia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 0.010 None 1.000 1 1999 1999
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 6 2 0.020 None 1.000 2 2005 2015
CUI: C0032268
Disease: Pneumocephalus
Pneumocephalus 		disease Nervous System Diseases; Wounds and Injuries Disease or Syndrome 6 0.010 None 1.000 1 2020 2020
CUI: C0007279
Disease: Carotid Body Paraganglioma
Carotid Body Paraganglioma 		disease Neoplasms Neoplastic Process 7 3 0.010 None 1.000 1 2013 2013
CUI: C0342777
Disease: Succinate-coenzyme Q reductase deficiency
Succinate-coenzyme Q reductase deficiency 		disease Disease or Syndrome 8 6 0.010 None 1.000 1 2012 2012
CUI: C1533592
Disease: Malignant Paraganglionic Neoplasm
Malignant Paraganglionic Neoplasm 		disease Neoplasms Neoplastic Process 8 3 0.010 None 1.000 1 2015 2015
CUI: C0033893
Disease: Tension Headache
Tension Headache 		disease Nervous System Diseases Disease or Syndrome 11 5 0.010 None 1.000 1 2018 2018
CUI: C0030422
Disease: Extra-Adrenal Paraganglioma
Extra-Adrenal Paraganglioma 		disease Neoplasms Neoplastic Process 12 0.010 None 1.000 1 2015 2015
CUI: C3264382
Disease: Swine influenza virus (viruses that normally cause infections in pigs)
Swine influenza virus (viruses that normally cause infections in pigs) 		disease Disease or Syndrome 12 0.010 None 1.000 1 2019 2019
CUI: C0040896
Disease: Trichinellosis
Trichinellosis 		disease Infections Disease or Syndrome 13 0.010 None 1.000 1 2017 2017
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck 		disease Neoplasms Neoplastic Process 14 7 0.060 None 1.000 6 2003 2020
CUI: C0009186
Disease: Coccidioidomycosis
Coccidioidomycosis 		disease Infections Disease or Syndrome 14 0.010 None 1.000 1 2018 2018
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 15 1 0.020 None 1.000 2 2011 2014
CUI: C0236053
Disease: Mucosal ulcer
Mucosal ulcer 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 15 0.010 None 1.000 1 2016 2016
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 19 7 0.010 None 1.000 1 2016 2016
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
Pheochromocytoma, Extra-Adrenal 		disease Neoplasms Neoplastic Process 20 5 0.020 None 1.000 2 2006 2008
CUI: C0235222
Disease: Diastolic hypertension
Diastolic hypertension 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 21 1 0.010 None 1.000 1 1996 1996
CUI: C0745133
Disease: Isolated systolic hypertension
Isolated systolic hypertension 		disease Disease or Syndrome 22 3 0.010 None 1.000 1 2001 2001
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 24 10 0.010 None 1.000 1 2019 2019
CUI: C1858592
Disease: Carney Triad
Carney Triad 		disease Digestive System Diseases; Neoplasms; Respiratory Tract Diseases Disease or Syndrome 25 0.020 None 1.000 2 2015 2018
CUI: C0312414
Disease: Menstrual spotting
Menstrual spotting 		phenotype Sign or Symptom 27 2 0.010 None 1.000 1 2019 2019
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 33 12 0.010 None 1.000 1 2018 2018
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 37 4 0.010 None 1.000 1 2017 2017
CUI: C0949857
Disease: Mitochondrial Respiratory Chain Deficiencies
Mitochondrial Respiratory Chain Deficiencies 		disease Nutritional and Metabolic Diseases Disease or Syndrome 40 3 0.010 None 1.000 1 2017 2017
CUI: C0004245
Disease: Atrioventricular Block
Atrioventricular Block 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 42 17 0.010 None 1.000 1 2017 2017