RERE, arginine-glutamic acid dipeptide repeats, 473

N. diseases: 215; N. variants: 48
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: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.010 None 1.000 1 2019 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.010 None 1.000 1 2019 2019
CUI: C0013595
Disease: Eczema
Eczema
disease Skin and Connective Tissue Diseases Disease or Syndrome 863 368 0.100 None 1.000 1 1 2019 2019
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.110 None 1.000 1 2018 2018
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
disease Digestive System Diseases; Infections Disease or Syndrome 1449 519 0.010 None 1.000 1 2019 2019
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.010 None 1.000 1 2003 2003
CUI: C0023895
Disease: Liver diseases
Liver diseases
group Digestive System Diseases Disease or Syndrome 1019 100 0.010 None 1.000 1 2003 2003
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.100 None 1.000 1 1 2019 2019
CUI: C0024899
Disease: Mastocytosis
Mastocytosis
disease Neoplasms; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 98 8 0.010 None 1.000 1 2017 2017
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
disease Digestive System Diseases Disease or Syndrome 502 80 0.010 None 1.000 1 2017 2017
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases
group Respiratory Tract Diseases Disease or Syndrome 198 109 0.100 None 1.000 1 1 2019 2019
CUI: C0087031
Disease: Juvenile-Onset Still Disease
Juvenile-Onset Still Disease
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 171 41 0.300 None 1.000 1 2009 2009
CUI: C0152020
Disease: Gastroparesis
Gastroparesis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 95 7 0.010 None 1.000 1 2019 2019
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 53 11 0.010 None 1.000 1 2013 2013
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 80 53 0.010 None 1.000 1 1 2004 2004
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 28 128 0.010 None 1.000 1 1994 1994
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis
disease Digestive System Diseases Disease or Syndrome 158 108 0.010 None < 0.001 1 2019 2019
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 49 205 0.010 None 1.000 1 2018 2018
CUI: C0341471
Disease: Idiopathic chronic pancreatitis
Idiopathic chronic pancreatitis
disease Digestive System Diseases Disease or Syndrome 17 16 0.010 None 1.000 1 2017 2017
CUI: C0751615
Disease: Intracranial Arachnoid Cysts
Intracranial Arachnoid Cysts
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 4 1 0.010 None 1.000 1 2018 2018
CUI: C1304470
Disease: Generalized vitiligo
Generalized vitiligo
disease Skin and Connective Tissue Diseases Disease or Syndrome 43 16 0.010 None 1.000 1 2010 2010
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2018 2018
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia
disease Male Urogenital Diseases Disease or Syndrome 770 91 0.010 None < 0.001 1 1999 1999
CUI: C1720505
Disease: Adult growth hormone deficiency
Adult growth hormone deficiency
disease Disease or Syndrome 6 0.010 None 1.000 1 2017 2017
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.010 None 1.000 1 2011 2011