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: C1843108
Disease: Short palm
Short palm
phenotype Finding 110 13 0.100 None 0 1
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
phenotype Nervous System Diseases Finding 410 0.100 None 0
CUI: C1446712
Disease: Overlapping fingers
Overlapping fingers
disease Acquired Abnormality 27 2 0.100 None 0 1
CUI: C1445953
Disease: Poor eye contact
Poor eye contact
phenotype Mental Disorders Finding 73 6 0.100 None 0 1
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease Male Urogenital Diseases Congenital Abnormality 217 11 0.100 None 0
CUI: C1386091
Disease: Acromicria
Acromicria
disease Congenital Abnormality 13 0.100 None 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
phenotype Pathologic Function 41 56 0.100 None 0 1
Attention deficit hyperactivity disorder
disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.100 None 0
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 72 24 0.100 None 0 1
CUI: C1820737
Disease: Temperature instability
Temperature instability
phenotype Finding 12 8 0.100 None 0 1
CUI: C1829460
Disease: Tongue thrusting
Tongue thrusting
phenotype Mental Disorders Finding 5 2 0.100 None 0 1
CUI: C1836195
Disease: Short toe
Short toe
phenotype Finding 56 3 0.100 None 0 1
CUI: C1839758
Disease: Narrow forehead
Narrow forehead
phenotype Finding 106 20 0.100 None 0
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation
phenotype Finding 41 4 0.100 None 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay
phenotype Finding 130 50 0.100 None 0 1
CUI: C1837142
Disease: Poor suck
Poor suck
phenotype Finding 103 31 0.100 None 0 1
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass
phenotype Finding 65 12 0.100 None 0
CUI: C1836806
Disease: Mild microcephaly
Mild microcephaly
phenotype Finding 12 5 0.100 None 0 1
Decreased circulating cortisol level
phenotype Immune System Diseases; Endocrine System Diseases Finding 23 2 0.100 None 0 1
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0 1
CUI: C0920299
Disease: Overriding toe
Overriding toe
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 47 13 0.100 None 0 1
CUI: C0746102
Disease: Chronic lung disease
Chronic lung disease
disease Respiratory Tract Diseases Disease or Syndrome 133 12 0.100 None 0 1
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive
disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 480 105 0.100 None 0 1
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
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