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: C0521525
Disease: Short neck
Short neck
phenotype Finding 288 29 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: C0221354
Disease: Frontal bossing
Frontal bossing
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 321 22 0.100 None 0
CUI: C0086437
Disease: Joint laxity
Joint laxity
phenotype Musculoskeletal Diseases Pathologic Function 224 15 0.100 None 0 1
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 187 23 0.100 None 0 1
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0
CUI: C0038379
Disease: Strabismus
Strabismus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.100 None 0 1
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure
phenotype Finding 91 16 0.100 None 0 1
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0 1
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype Finding 159 25 0.100 None 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure
phenotype Finding 216 16 0.100 None 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead
phenotype Finding 106 20 0.100 None 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 211 411 0.100 None 0 4
CUI: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0239479
Disease: Round face
Round face
phenotype Finding 88 3 0.100 None 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 393 2 0.100 None 0
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0 1
CUI: C0426415
Disease: Large nose
Large nose
phenotype Finding 70 7 0.100 None 0 1
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 171 54 0.100 None 0 1
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0 1
Attention deficit hyperactivity disorder
disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.100 None 0 1
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 160 7 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: C0241074
Disease: Hyperextensible skin
Hyperextensible skin
phenotype Finding 50 11 0.100 None 0 1
CUI: C0240543
Disease: Bulbous nose
Bulbous nose
phenotype Finding 123 13 0.100 None 0