SORD, sorbitol dehydrogenase, 6652

N. diseases: 113; N. variants: 6
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: C0268563
Disease: Sarcosinemia
Sarcosinemia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 4 0.010 None 1.000 1 1999 1999
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 4 0.010 None 1.000 1 2013 2013
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 8 45 0.020 None 1.000 2 2005 2015
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 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: C3277059
Disease: Congenital Bilateral Cataracts
Congenital Bilateral Cataracts 		disease Disease or Syndrome 8 1 0.010 None 1.000 1 1982 1982
CUI: C0030422
Disease: Extra-Adrenal Paraganglioma
Extra-Adrenal Paraganglioma 		disease Neoplasms Neoplastic Process 12 0.010 None 1.000 1 2015 2015
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: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck 		disease Neoplasms Neoplastic Process 19 7 0.060 None 1.000 6 2003 2020
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 20 48 0.010 None 1.000 1 2016 2016
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: C0011876
Disease: Cataract due to diabetes mellitus
Cataract due to diabetes mellitus 		disease Eye Diseases Disease or Syndrome 22 0.010 None 1.000 1 1995 1995
CUI: C0745133
Disease: Isolated systolic hypertension
Isolated systolic hypertension 		disease Disease or Syndrome 22 3 0.010 None 1.000 1 2001 2001
CUI: C1858592
Disease: Carney Triad
Carney Triad 		disease Digestive System Diseases; Neoplasms; Respiratory Tract Diseases Disease or Syndrome 25 6 0.020 None 1.000 2 2015 2018
CUI: C0264657
Disease: Renal sclerosis with hypertension
Renal sclerosis with hypertension 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 29 9 0.010 None 1.000 1 2018 2018
CUI: C0029531
Disease: Other cataract
Other cataract 		disease Eye Diseases Disease or Syndrome 32 0.200 None 1.000 1 2008 2008
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 32 128 0.010 None 1.000 1 2011 2011
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
Pheochromocytoma, Extra-Adrenal 		disease Neoplasms Neoplastic Process 38 5 0.020 None 1.000 2 2006 2008
CUI: C0004606
Disease: Nonproliferative diabetic retinopathy
Nonproliferative diabetic retinopathy 		disease Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 41 1 0.010 None < 0.001 1 2008 2008
CUI: C0151798
Disease: Hepatic necrosis
Hepatic necrosis 		phenotype Digestive System Diseases Disease or Syndrome 44 0.010 None 1.000 1 2014 2014
CUI: C0949857
Disease: Mitochondrial Respiratory Chain Deficiencies
Mitochondrial Respiratory Chain Deficiencies 		disease Nutritional and Metabolic Diseases Disease or Syndrome 49 3 0.010 None 1.000 1 2017 2017
CUI: C1334699
Disease: Mesenchymal Cell Neoplasm
Mesenchymal Cell Neoplasm 		disease Neoplasms Neoplastic Process 55 0.010 None 1.000 1 2018 2018
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 56 6 0.010 None 1.000 1 2018 2018