| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.300 | Biomarker | group | CTD_human | A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8. | 30670789 | 2019 | ||||
|
0.300 | Biomarker | group | CTD_human | De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. | 30224647 | 2018 | ||||
|
0.300 | Biomarker | group | CTD_human | Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. | 25730767 | 2015 | ||||
|
0.300 | Biomarker | group | CTD_human | Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. | 24614070 | 2014 | ||||
|
0.300 | Biomarker | group | CTD_human | Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder. | 22581972 | 2012 | ||||
|
0.300 | Biomarker | group | CTD_human | Fragile x syndrome. | 22043169 | 2011 | ||||
|
0.300 | Biomarker | group | CTD_human | Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. | 19935664 | 2009 | ||||
|
0.300 | Biomarker | group | CTD_human | ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. | 18677313 | 2008 | ||||
|
0.300 | Biomarker | group | CTD_human | Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. | 12389028 | 2002 | ||||
|
0.300 | Biomarker | group | CTD_human | Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. | 9207788 | 1997 | ||||
|
0.300 | Biomarker | group | CTD_human | Mutations in the human Jagged1 gene are responsible for Alagille syndrome. | 9207787 | 1997 |