MAGEL2, MAGE family member L2, 54551

N. diseases: 184; N. variants: 15
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: C4073265
Disease: Abnormality of inferior oblique extraocular muscle
Abnormality of inferior oblique extraocular muscle 		phenotype Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C0431928
Disease: Congenital overgrowth of lower limb
Congenital overgrowth of lower limb 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 2 0.100 None 0 1
CUI: C1970591
Disease: Abnormal pupillary light reflex
Abnormal pupillary light reflex 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 2 1 0.100 None 0 1
CUI: C4025537
Disease: Humerus varus
Humerus varus 		phenotype Anatomical Abnormality 2 1 0.100 None 0 1
CUI: C0796095
Disease: Opitz trigonocephaly syndrome
Opitz trigonocephaly syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 4 1 0.010 None 1.000 1 2017 2017
CUI: C1829460
Disease: Tongue thrusting
Tongue thrusting 		phenotype Mental Disorders Finding 5 2 0.100 None 0 1
CUI: C4021845
Disease: Oromotor apraxia
Oromotor apraxia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 5 1 0.100 None 0 1
CUI: C1857045
Disease: Abnormality of the philtrum
Abnormality of the philtrum 		phenotype Finding 6 0.100 None 0
CUI: C1861349
Disease: Absent distal interphalangeal creases
Absent distal interphalangeal creases 		phenotype Finding 6 1 0.100 None 0 1
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 7 17 0.700 strong 1.000 16 13 2013 2019
CUI: C3554724
Disease: Complete duplication of thumb phalanx
Complete duplication of thumb phalanx 		phenotype Finding 8 1 0.100 None 0 1
CUI: C1855669
Disease: Absent frontal sinuses
Absent frontal sinuses 		phenotype Finding 9 1 0.100 None 0 1
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		group Finding 9 4 0.100 None 0 1
CUI: C0343239
Disease: Benign congenital hypotonia
Benign congenital hypotonia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 11 0.010 None 1.000 1 2019 2019
CUI: C0265222
Disease: Royer Syndrome
Royer Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 12 0.300 None 1.000 1 2013 2013
CUI: C1820737
Disease: Temperature instability
Temperature instability 		phenotype Finding 12 8 0.100 None 0 1
CUI: C1836806
Disease: Mild microcephaly
Mild microcephaly 		phenotype Finding 12 5 0.100 None 0 1
CUI: C1386091
Disease: Acromicria
Acromicria 		disease Congenital Abnormality 13 0.100 None 0
CUI: C4025741
Disease: Clinodactyly of the 5th toe
Clinodactyly of the 5th toe 		disease Anatomical Abnormality 13 4 0.100 None 0 1
CUI: C1857632
Disease: Narrow palm
Narrow palm 		phenotype Finding 17 0.100 None 0
CUI: C0549423
Disease: Obstructive Hydrocephalus
Obstructive Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 18 1 0.100 None 0 1
CUI: C2712334
Disease: Actual Aspiration
Actual Aspiration 		phenotype Finding 18 8 0.100 None 0 1
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 21 31 0.100 None 0
CUI: C0311277
Disease: Obesity, Abdominal
Obesity, Abdominal 		phenotype Nutritional and Metabolic Diseases Finding 21 0.100 None 0
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 22 15 0.100 None 0 1