Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C4021845
Disease: Oromotor apraxia
Oromotor apraxia 		disease 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		phenotype 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C4025537
Disease: Humerus varus
Humerus varus 		phenotype 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C4025741
Disease: Clinodactyly of the 5th toe
Clinodactyly of the 5th toe 		disease 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C4073265
Disease: Abnormality of inferior oblique extraocular muscle
Abnormality of inferior oblique extraocular muscle 		phenotype 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C1855669
Disease: Absent frontal sinuses
Absent frontal sinuses 		phenotype 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		group 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C1856409
Disease: Dilation of lateral ventricles
Dilation of lateral ventricles 		phenotype 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C1861349
Disease: Absent distal interphalangeal creases
Absent distal interphalangeal creases 		phenotype 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C1970591
Disease: Abnormal pupillary light reflex
Abnormal pupillary light reflex 		phenotype 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C2673410
Disease: Small midface
Small midface 		phenotype 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C2712334
Disease: Actual Aspiration
Actual Aspiration 		phenotype 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		phenotype 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C0549423
Disease: Obstructive Hydrocephalus
Obstructive Hydrocephalus 		disease 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C0038379
Disease: Strabismus
Strabismus 		disease 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		disease 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		phenotype 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 1