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: 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 185 8 0.900 strong 1.000 27 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 7 17 0.700 strong 1.000 16 13 2013 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.110 None 1.000 11 3 1993 2015
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 198 33 0.350 strong 1.000 6 2013 2019
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.140 None 1.000 4 2013 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.330 None 1.000 3 2013 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.030 None 1.000 3 2013 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.120 None 1.000 2 1 2017 2018
CUI: C0003123
Disease: Anorexia
Anorexia
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 242 10 0.010 None 1.000 1 2013 2013
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.010 None 1.000 1 2011 2011
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 203 49 0.010 None 1.000 1 2018 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.310 None < 0.001 1 2010 2010
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: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 31 6 0.010 None 1.000 1 2019 2019
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: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 86 163 0.010 None 1.000 1 2005 2005
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: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 57 2 0.010 None 1.000 1 2018 2018
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 169 45 0.110 None 1.000 1 2019 2019
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 191 67 0.010 None 1.000 1 2005 2005
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 488 90 0.100 None 0 1
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0014877
Disease: Esotropia
Esotropia
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 121 39 0.100 None 0 1
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 272 36 0.100 None 0 1