MYRF, myelin regulatory factor, 745

N. diseases: 102; N. variants: 44
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: C0339675
Disease: Axial hypermetropia
Axial hypermetropia 		disease Eye Diseases Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C0266357
Disease: Persistent umbilical sinus
Persistent umbilical sinus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 1 0.100 None 0
CUI: C4255215
Disease: Dysplastic tricuspid valve
Dysplastic tricuspid valve 		disease Disease or Syndrome; Congenital Abnormality 1 0.100 None 0
CUI: C4748952
Disease: Hepatopulmonary fusion
Hepatopulmonary fusion 		phenotype Finding 1 0.100 None 0
CUI: C4748946
Disease: CARDIAC-UROGENITAL SYNDROME
CARDIAC-UROGENITAL SYNDROME 		disease Disease or Syndrome 2 7 0.600 None 1.000 3 7 2018 2018
CUI: C0036400
Disease: Scimitar Syndrome
Scimitar Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 2 1 0.110 None 1.000 1 1 2018 2018
CUI: C1838502
Disease: NANOPHTHALMOS 1
NANOPHTHALMOS 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C1735886
Disease: Bland White Garland Syndrome
Bland White Garland Syndrome 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 2 1 0.100 None 0 1
CUI: C0239761
Disease: Gonadal hypoplasia
Gonadal hypoplasia 		disease Congenital Abnormality 3 0.300 limited 1.000 1 2018 2018
CUI: C4551904
Disease: Total Anomalous Pulmonary Venous Return 1
Total Anomalous Pulmonary Venous Return 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 3 2 0.100 None 0 1
CUI: C2316832
Disease: Arachidonic acid measurement
Arachidonic acid measurement 		phenotype Laboratory Procedure 4 4 0.100 None 1.000 1 1 2015 2015
CUI: C0008062
Disease: Child Sexual Abuse
Child Sexual Abuse 		phenotype Mental or Behavioral Dysfunction 5 0.010 None 1.000 1 2017 2017
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 6 1 0.010 None 1.000 1 2019 2019
CUI: C0344760
Disease: Congenital atresia of mitral valve
Congenital atresia of mitral valve 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 8 2 0.100 None 0 1
CUI: C4722446
Disease: ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION
ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION 		disease Disease or Syndrome 9 1 0.400 None 1.000 1 1 2018 2018
CUI: C0685707
Disease: Muscular ventricular septum defect
Muscular ventricular septum defect 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 9 4 0.100 None 0 1
CUI: C0264353
Disease: Bronchomalacia
Bronchomalacia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases Disease or Syndrome 10 0.100 None 0
CUI: C0425913
Disease: Uterus absent (finding)
Uterus absent (finding) 		phenotype Finding 10 1 0.100 None 0
CUI: C0221182
Disease: Chordee
Chordee 		disease Male Urogenital Diseases Congenital Abnormality 11 1 0.100 None 0 1
CUI: C0700379
Disease: Total iron binding capacity function
Total iron binding capacity function 		phenotype Clinical Attribute 20 35 0.100 None 1.000 1 1 2017 2017
CUI: C1283048
Disease: Iron binding capacity total measurement
Iron binding capacity total measurement 		phenotype Laboratory Procedure 20 35 0.100 None 1.000 1 1 2017 2017
CUI: C0011813
Disease: Dextrocardia
Dextrocardia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 30 6 0.100 None 0 1
CUI: C0341787
Disease: Bifid scrotum
Bifid scrotum 		disease Congenital Abnormality 30 2 0.100 None 0
CUI: C0266631
Disease: Accessory spleen
Accessory spleen 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Congenital Abnormality 41 0.100 None 0
CUI: C0042063
Disease: Urogenital Abnormalities
Urogenital Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 42 3 0.010 None 1.000 1 2018 2018