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: 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
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
Cataract, Pulverulent, Juvenile-Onset
disease Eye Diseases Congenital Abnormality 1 0.500 None 1.000 1 2003 2003
Cataract, congenital, cerulean type 1
disease Eye Diseases Congenital Abnormality 6 0.410 None 0.500 2 2006 2011
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: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.310 None 1.000 2 2008 2019
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: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 1740 865 0.300 None 1.000 16 1998 2019
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: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis
disease Digestive System Diseases Disease or Syndrome 54 3 0.300 None 1.000 1 2010 2010
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.300 None 1.000 1 2019 2019
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome
disease Eye Diseases Disease or Syndrome 10 5 0.300 None 1.000 1 2007 2007
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.150 None 1.000 5 1 2002 2014
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: 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: 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: C4021568
Disease: Cortical pulverulent cataract
Cortical pulverulent cataract
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 2 0.110 None 1.000 1 2003 2003
CUI: C1856121
Disease: Broad eyebrow
Broad eyebrow
phenotype Finding 11 4 0.100 None 0
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype Finding 282 16 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum
phenotype Finding 105 10 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0