MAGEL2, MAGE family member L2, 54551

N. diseases: 91; N. variants: 14
Source: CLINVAR ×
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: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 1 0.900 strong 1.000 0 1 1999 2019
CUI: C3809877
Disease: Prader-Willi-like syndrome
Prader-Willi-like syndrome 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 1 13 0.700 strong 1.000 2 13 2013 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 303 505 0.120 None 1.000 0 1 2017 2018
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 335 611 0.110 None 1.000 10 3 1993 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 350 0.100 None 1.000 10 2 1993 2015
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 2 17 0.100 None 0 1
CUI: C1836195
Disease: Short toe
Short toe 		phenotype Finding 3 3 0.100 None 0 1
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 31 39 0.100 None 0 1
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		phenotype Mental Disorders Finding 6 6 0.100 None 0 1
CUI: C1836623
Disease: Decreased circulating cortisol level
Decreased circulating cortisol level 		phenotype Immune System Diseases; Endocrine System Diseases Finding 2 2 0.100 None 0 1
CUI: C1836806
Disease: Mild microcephaly
Mild microcephaly 		phenotype Finding 5 5 0.100 None 0 1
CUI: C1837142
Disease: Poor suck
Poor suck 		phenotype Finding 28 31 0.100 None 0 1
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype Finding 33 50 0.100 None 0 1
CUI: C1843108
Disease: Short palm
Short palm 		phenotype Finding 11 13 0.100 None 0 1
CUI: C1829460
Disease: Tongue thrusting
Tongue thrusting 		phenotype Mental Disorders Finding 2 2 0.100 None 0 1
CUI: C1820737
Disease: Temperature instability
Temperature instability 		phenotype Finding 6 8 0.100 None 0 1
CUI: C0700292
Disease: Hypoxemia
Hypoxemia 		phenotype Pathological Conditions, Signs and Symptoms Finding 6 7 0.100 None 0 1
CUI: C0746102
Disease: Chronic lung disease
Chronic lung disease 		disease Respiratory Tract Diseases Disease or Syndrome 6 7 0.100 None 0 1
CUI: C0920299
Disease: Overriding toe
Overriding toe 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 13 13 0.100 None 0 1
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 7 9 0.100 None 0 1
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 21 24 0.100 None 0 1
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		phenotype Pathologic Function 41 56 0.100 None 0 1
CUI: C0575802
Disease: Small hand
Small hand 		phenotype Finding 24 31 0.100 None 0 1
CUI: C1446712
Disease: Overlapping fingers
Overlapping fingers 		disease Acquired Abnormality 2 2 0.100 None 0 1
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		phenotype Finding 30 46 0.100 None 0 1