Source: INFERRED

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: 79087
Gene Symbol: ALG12
ALG12 		ALG12 alpha-1,6-mannosyltransferase 0.705 0.500 1.2E-07
CUI: C2931001
Disease: Congenital disorder of glycosylation type 1G
Congenital disorder of glycosylation type 1G 		disease 0.710 None 1.000 1 10 2002 2016
Entrez Id: 79087
Gene Symbol: ALG12
ALG12 		ALG12 alpha-1,6-mannosyltransferase 0.705 0.500 1.2E-07
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		disease 0.100 None 0 0
Entrez Id: 79087
Gene Symbol: ALG12
ALG12 		ALG12 alpha-1,6-mannosyltransferase 0.705 0.500 1.2E-07
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.100 None 0 0
Entrez Id: 79087
Gene Symbol: ALG12
ALG12 		ALG12 alpha-1,6-mannosyltransferase 0.705 0.500 1.2E-07
CUI: C0345375
Disease: Congenital hypoplasia of femur
Congenital hypoplasia of femur 		disease 0.100 None 0 0
Entrez Id: 79087
Gene Symbol: ALG12
ALG12 		ALG12 alpha-1,6-mannosyltransferase 0.705 0.500 1.2E-07
CUI: C1866730
Disease: Rhizomelia
Rhizomelia 		disease 0.100 None 0 2
Entrez Id: 79087
Gene Symbol: ALG12
ALG12 		ALG12 alpha-1,6-mannosyltransferase 0.705 0.500 1.2E-07
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		disease 0.100 None 0 0
Entrez Id: 79087
Gene Symbol: ALG12
ALG12 		ALG12 alpha-1,6-mannosyltransferase 0.705 0.500 1.2E-07
CUI: C0269269
Disease: Inversion of nipple (disorder)
Inversion of nipple (disorder) 		disease 0.100 None 0 0
Entrez Id: 79087
Gene Symbol: ALG12
ALG12 		ALG12 alpha-1,6-mannosyltransferase 0.705 0.500 1.2E-07
CUI: C0848558
Disease: Hypospadias
Hypospadias 		disease 0.100 None 0 0
Entrez Id: 79087
Gene Symbol: ALG12
ALG12 		ALG12 alpha-1,6-mannosyltransferase 0.705 0.500 1.2E-07
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		disease 0.100 None 0 2
Entrez Id: 79087
Gene Symbol: ALG12
ALG12 		ALG12 alpha-1,6-mannosyltransferase 0.705 0.500 1.2E-07
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.100 None 0 0
Entrez Id: 79087
Gene Symbol: ALG12
ALG12 		ALG12 alpha-1,6-mannosyltransferase 0.705 0.500 1.2E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 79087
Gene Symbol: ALG12
ALG12 		ALG12 alpha-1,6-mannosyltransferase 0.705 0.500 1.2E-07
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease 0.100 None 0 0
Entrez Id: 79087
Gene Symbol: ALG12
ALG12 		ALG12 alpha-1,6-mannosyltransferase 0.705 0.500 1.2E-07
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent 		disease 0.100 None 0 0
Entrez Id: 79087
Gene Symbol: ALG12
ALG12 		ALG12 alpha-1,6-mannosyltransferase 0.705 0.500 1.2E-07
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease 0.100 None 0 0
Entrez Id: 79087
Gene Symbol: ALG12
ALG12 		ALG12 alpha-1,6-mannosyltransferase 0.705 0.500 1.2E-07
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		disease 0.100 None 0 0
Entrez Id: 79087
Gene Symbol: ALG12
ALG12 		ALG12 alpha-1,6-mannosyltransferase 0.705 0.500 1.2E-07
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease 0.100 None 0 0
Entrez Id: 79087
Gene Symbol: ALG12
ALG12 		ALG12 alpha-1,6-mannosyltransferase 0.705 0.500 1.2E-07
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		phenotype 0.100 None 0 0
Entrez Id: 79087
Gene Symbol: ALG12
ALG12 		ALG12 alpha-1,6-mannosyltransferase 0.705 0.500 1.2E-07
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		phenotype 0.100 None 0 0
Entrez Id: 79087
Gene Symbol: ALG12
ALG12 		ALG12 alpha-1,6-mannosyltransferase 0.705 0.500 1.2E-07
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		phenotype 0.100 None 0 0
Entrez Id: 79087
Gene Symbol: ALG12
ALG12 		ALG12 alpha-1,6-mannosyltransferase 0.705 0.500 1.2E-07
CUI: C0240671
Disease: Partial thromboplastin time increased (finding)
Partial thromboplastin time increased (finding) 		phenotype 0.100 None 0 0
Entrez Id: 79087
Gene Symbol: ALG12
ALG12 		ALG12 alpha-1,6-mannosyltransferase 0.705 0.500 1.2E-07
CUI: C0426817
Disease: Short ribs
Short ribs 		phenotype 0.100 None 0 0
Entrez Id: 79087
Gene Symbol: ALG12
ALG12 		ALG12 alpha-1,6-mannosyltransferase 0.705 0.500 1.2E-07
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		phenotype 0.100 None 0 0
Entrez Id: 79087
Gene Symbol: ALG12
ALG12 		ALG12 alpha-1,6-mannosyltransferase 0.705 0.500 1.2E-07
CUI: C1832117
Disease: Short humerus
Short humerus 		phenotype 0.100 None 0 0
Entrez Id: 79087
Gene Symbol: ALG12
ALG12 		ALG12 alpha-1,6-mannosyltransferase 0.705 0.500 1.2E-07
CUI: C1840069
Disease: Sandal gap
Sandal gap 		phenotype 0.100 None 0 0
Entrez Id: 79087
Gene Symbol: ALG12
ALG12 		ALG12 alpha-1,6-mannosyltransferase 0.705 0.500 1.2E-07
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		phenotype 0.100 None 0 0