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: C4022661
Disease: Hyperconvex toenail
Hyperconvex toenail 		phenotype Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C4310772
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART 		disease Disease or Syndrome 2 11 0.710 None 1.000 3 11 2015 2018
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: C1720505
Disease: Adult growth hormone deficiency
Adult growth hormone deficiency 		disease Disease or Syndrome 6 0.010 None 1.000 1 2017 2017
CUI: C1842870
Disease: Chromosome 1p36 Deletion Syndrome
Chromosome 1p36 Deletion Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 6 0.310 None 1.000 1 2016 2016
CUI: C4721788
Disease: Bifid ribs
Bifid ribs 		phenotype Anatomical Abnormality 9 1 0.100 None 0
CUI: C0232943
Disease: Intermenstrual heavy bleeding
Intermenstrual heavy bleeding 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Sign or Symptom 10 1 0.100 None 0 1
CUI: C3277019
Disease: Horizontal eyebrow
Horizontal eyebrow 		phenotype Finding 11 1 0.100 None 0
CUI: C4021822
Disease: Abnormality of female external genitalia
Abnormality of female external genitalia 		disease Anatomical Abnormality 15 0.100 None 0
CUI: C4025329
Disease: Abnormality of the anus
Abnormality of the anus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 16 1 0.100 None 0
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: C0149955
Disease: Annular pancreas
Annular pancreas 		disease Digestive System Diseases Congenital Abnormality 19 1 0.100 None 0
CUI: C4316788
Disease: Abnormality of the intestine
Abnormality of the intestine 		phenotype Finding 19 0.100 None 0
CUI: C0856748
Disease: Aneurysm of aortic arch
Aneurysm of aortic arch 		disease Cardiovascular Diseases Disease or Syndrome 20 0.100 None 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		phenotype Finding 20 3 0.100 None 0 1
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype Finding 24 28 0.100 None 0 1
CUI: C0266623
Disease: Congenital anomaly of neck
Congenital anomaly of neck 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 26 0.100 None 0
CUI: C4025749
Disease: Abnormality of the spleen
Abnormality of the spleen 		disease Anatomical Abnormality 26 1 0.100 None 0
CUI: C0023221
Disease: Leg Length Inequality
Leg Length Inequality 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding 27 6 0.100 None 0
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: C0332573
Disease: Macule
Macule 		phenotype Finding 31 2 0.100 None 0
CUI: C1861329
Disease: Spinal canal stenosis
Spinal canal stenosis 		disease Musculoskeletal Diseases Anatomical Abnormality 35 0.100 None 0
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 37 10 0.100 None 0
CUI: C0265695
Disease: Congenital fusion of ribs
Congenital fusion of ribs 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 37 2 0.100 None 0
CUI: C0266610
Disease: Preauricular dimple
Preauricular dimple 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 40 5 0.100 None 0 1