MAFB, MAF bZIP transcription factor B, 9935

N. diseases: 135; N. variants: 10
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: C2674705
Disease: Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 		disease Musculoskeletal Diseases Disease or Syndrome 1 7 0.740 None 1.000 7 7 2012 2018
CUI: C4310752
Disease: DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS
DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS 		disease Disease or Syndrome 1 0.300 moderate 1.000 1 2013 2013
CUI: C4310873
Disease: DUANE RETRACTION SYNDROME 3
DUANE RETRACTION SYNDROME 3 		disease Disease or Syndrome 1 2 0.100 None 0 2
CUI: C0241760
Disease: Wrist swelling
Wrist swelling 		phenotype Pathologic Function 2 0.100 None 0
CUI: C1846463
Disease: Impaired ocular adduction
Impaired ocular adduction 		phenotype Finding 2 0.100 None 0
CUI: C1846465
Disease: Palpebral fissure narrowing on adduction
Palpebral fissure narrowing on adduction 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding 2 0.100 None 0
CUI: C1854610
Disease: Metacarpal osteolysis
Metacarpal osteolysis 		phenotype Finding 2 0.100 None 0
CUI: C1854614
Disease: Metatarsal osteolysis
Metatarsal osteolysis 		phenotype Finding 2 0.100 None 0
CUI: C0751083
Disease: Duane Retraction Syndrome, Type 2
Duane Retraction Syndrome, Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 13 0.400 None 1.000 1 3 2016 2016
CUI: C0994516
Disease: Type 1 Duane Retraction Syndrome
Type 1 Duane Retraction Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 3 0.400 None 1.000 1 3 2016 2016
CUI: C0751084
Disease: Duane Retraction Syndrome, Type 3
Duane Retraction Syndrome, Type 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 0.300 None 0
CUI: C1833734
Disease: Carpal osteolysis
Carpal osteolysis 		phenotype Pathologic Function 3 0.100 None 0
CUI: C1833735
Disease: Osteolysis involving tarsal bones
Osteolysis involving tarsal bones 		phenotype Pathologic Function 3 0.100 None 0
CUI: C1846462
Disease: Impaired ocular abduction
Impaired ocular abduction 		phenotype Finding 3 0.100 None 0
CUI: C4023395
Disease: Patchy hypopigmentation of hair
Patchy hypopigmentation of hair 		phenotype Finding 3 0.100 None 0
CUI: C0235439
Disease: Ankle edema (finding)
Ankle edema (finding) 		phenotype Nutritional and Metabolic Diseases; Cardiovascular Diseases Pathologic Function 4 0.100 None 0
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 11 0.300 None 0
CUI: C1860344
Disease: Hypoplastic iris stroma
Hypoplastic iris stroma 		phenotype Finding 7 0.100 None 0
CUI: C4021567
Disease: Central heterochromia
Central heterochromia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases Sign or Symptom 7 1 0.100 None 0
CUI: C4025167
Disease: Abnormal vertebral segmentation and fusion
Abnormal vertebral segmentation and fusion 		disease Anatomical Abnormality 11 0.100 None 0
CUI: C4048199
Disease: Ulnar deviation of the hand or of fingers of the hand
Ulnar deviation of the hand or of fingers of the hand 		phenotype Finding 11 0.100 None 0
CUI: C0241521
Disease: Ulnar deviation of hand
Ulnar deviation of hand 		phenotype Musculoskeletal Diseases Finding 12 2 0.100 None 0
CUI: C4023383
Disease: Narrow internal auditory canal
Narrow internal auditory canal 		phenotype Finding 14 0.100 None 0
CUI: C0154936
Disease: Pupillary abnormality
Pupillary abnormality 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 18 1 0.100 None 0
CUI: C0028866
Disease: Oculomotor Nerve Paralysis
Oculomotor Nerve Paralysis 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 22 1 0.100 None 0