Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3586
Gene Symbol: IL10
IL10
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.030 AlteredExpression BEFREE The severe malformations exhibited in the cranial fossae, orbital region, pituitary gland and sella turcica highlight the crucial involvement of transcription factors such as TGIF, which is located on chromosome 18 and contributes to neural patterning, in the proper development of neural and cranial structures. 26018729

2015
Entrez Id: 3586
Gene Symbol: IL10
IL10
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.030 GeneticVariation BEFREE Loss of function mutations in a single copy of TGIF result in holoprosencephaly, a developmental anomaly leading to severe forebrain and craniofacial malformations. 17158784

2007
Entrez Id: 3586
Gene Symbol: IL10
IL10
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.030 GeneticVariation BEFREE Heterozygous nonsense and missense mutations of the human TGIF gene have been associated with holoprosencephaly, the most common congenital malformation of the forebrain. 15831469

2005