MED13L, mediator complex subunit 13L, 23389

N. diseases: 94; N. variants: 49
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.
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
disease Disease or Syndrome 1 26 0.700 moderate 1.000 3 26 2013 2017
Transposition of the Great Arteries, Dextro-Looped 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 6 12 0.700 limited 1.000 3 12 2003 2016
CUI: C0009677
Disease: Congenital macroglossia
Congenital macroglossia
disease Stomatognathic Diseases Congenital Abnormality 7 0.010 None 1.000 1 2019 2019
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome 9 25 0.010 None 1.000 1 2017 2017
CUI: C4551771
Disease: Kleefstra syndrome
Kleefstra syndrome
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 9 11 0.010 None 1.000 1 2017 2017
Discordant ventriculoarterial connection
disease Congenital Abnormality 10 1 0.020 None 1.000 2 2017 2019
Prieto X-linked mental retardation syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 0.010 None 1.000 1 2018 2018
CUI: C0020580
Disease: Hypesthesia
Hypesthesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 6 0.100 None 0 1
CUI: C0339682
Disease: Regular astigmatism - corneal
Regular astigmatism - corneal
disease Eye Diseases Disease or Syndrome 34 28 0.100 None 1.000 1 1 2018 2018
CUI: C2675021
Disease: Narrow palpebral fissure
Narrow palpebral fissure
phenotype Finding 34 3 0.100 None 0 1
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 39 3 0.020 None 1.000 2 2014 2018
Abnormality of the periventricular white matter
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Anatomical Abnormality 45 7 0.100 None 0 1
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin
phenotype Finding 50 11 0.100 None 0 1
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect
disease Congenital Abnormality 51 45 0.010 None 1.000 1 2015 2015
CUI: C0241210
Disease: Speech Delay
Speech Delay
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 58 11 0.010 None 1.000 1 2017 2017
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 61 18 0.160 None 1.000 6 2003 2019
CUI: C0426415
Disease: Large nose
Large nose
phenotype Finding 70 7 0.100 None 0 1
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 73 14 0.100 None 0
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 74 12 0.100 None 0
CUI: C0239479
Disease: Round face
Round face
phenotype Finding 88 3 0.100 None 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure
phenotype Finding 91 16 0.100 None 0 1
CUI: C0023015
Disease: Language Disorders
Language Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 94 25 0.010 None 1.000 1 2015 2015
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding)
phenotype Finding 96 11 0.100 None 0
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype Finding 103 93 0.100 None 1.000 16 1 1971 2018
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip
phenotype Finding 105 3 0.100 None 0