MAF, MAF bZIP transcription factor, 4094

N. diseases: 71; N. variants: 28
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: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.150 None 1.000 5 1 2002 2014
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Anatomical Abnormality 153 12 0.120 None 1.000 2 2002 2003
CUI: C1858085
Disease: Malar flattening
Malar flattening 		disease Anatomical Abnormality 190 12 0.100 None 0
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases Congenital Abnormality 105 104 0.320 None 1.000 4 6 2002 2016
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 148 1 0.120 None 1.000 2 2002 2003
CUI: C0344523
Disease: Cataract, congenital, cerulean type 1
Cataract, congenital, cerulean type 1 		disease Eye Diseases Congenital Abnormality 6 0.410 None 0.500 2 2006 2011
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 21 0.010 None 1.000 1 2002 2002
CUI: C0266525
Disease: Irido-corneal dysgenesis
Irido-corneal dysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 22 2 0.010 None 1.000 1 2002 2002
CUI: C0266544
Disease: Microcornea
Microcornea 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 10 0.110 None 1.000 1 3 2003 2003
CUI: C1857768
Disease: Cataract, Pulverulent, Juvenile-Onset
Cataract, Pulverulent, Juvenile-Onset 		disease Eye Diseases Congenital Abnormality 1 0.500 None 1.000 1 2003 2003
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0026034
Disease: Microstomia
Microstomia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 172 9 0.100 None 0
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 67 0.100 None 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 20 0.100 None 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0
CUI: C3888097
Disease: CATARACT 21, MULTIPLE TYPES
CATARACT 21, MULTIPLE TYPES 		disease Disease or Syndrome 1 5 0.800 strong 1.000 5 5 2002 2014
CUI: C1832812
Disease: Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 1 7 0.720 strong 1.000 3 7 2015 2020
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.020 None 1.000 2 2009 2013
CUI: C1833118
Disease: Cataract, Pulverulent
Cataract, Pulverulent 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 12 4 0.310 None 1.000 2 3 2002 2003
CUI: C1852438
Disease: CATARACT, COPPOCK-LIKE
CATARACT, COPPOCK-LIKE 		disease Eye Diseases Disease or Syndrome 20 1 0.300 None 1.000 2 2002 2003
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease Digestive System Diseases Disease or Syndrome 420 15 0.010 None 1.000 1 2017 2017
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		disease Digestive System Diseases Disease or Syndrome 54 3 0.300 None 1.000 1 2010 2010
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		disease Digestive System Diseases Disease or Syndrome 1458 827 0.010 None 1.000 1 2017 2017
CUI: C0024530
Disease: Malaria
Malaria 		disease Infections Disease or Syndrome 685 148 0.010 None 1.000 1 2017 2017