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.
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 16 3 1971 2018
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 16 3 1971 2018
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.110 None 1.000 16 7 1971 2018
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 103 93 0.100 None 1.000 16 1 1971 2018
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.100 None 1.000 16 2 1971 2018
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 0.600 None 1.000 14 2003 2019
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: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 406 58 0.050 None 1.000 5 2003 2018
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
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.020 None 1.000 2 2017 2019
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 251 94 0.120 None 1.000 2 2 2015 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.120 None 1.000 2 2017 2019
CUI: C3536741
Disease: Discordant ventriculoarterial connection
Discordant ventriculoarterial connection 		disease Congenital Abnormality 10 1 0.020 None 1.000 2 2017 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.020 None 1.000 2 2003 2016
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		group Mental Disorders Mental or Behavioral Dysfunction 355 19 0.020 None 1.000 2 2017 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: C1839730
Disease: Prieto X-linked mental retardation syndrome
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: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.300 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
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 429 74 0.010 None 1.000 1 2018 2018
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 148 0.300 None 1.000 1 2011 2011
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: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 114 7 0.010 None 1.000 1 2018 2018
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