| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.610 | GeneticVariation | disease | CLINVAR | A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. | 24065355 | 2013 | ||||
|
0.610 | GeneticVariation | disease | BEFREE | A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. | 24065355 | 2013 | ||||
|
0.610 | CausalMutation | disease | CLINVAR | A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. | 24065355 | 2013 | ||||
|
0.610 | GermlineCausalMutation | disease | ORPHANET | A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. | 24065355 | 2013 | ||||
|
0.610 | CausalMutation | disease | CLINVAR | Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. | 17160902 | 2007 | ||||
|
0.610 | Biomarker | disease | CTD_human | |||||||
|
0.510 | GeneticVariation | disease | BEFREE | We identified a variant in CCDC22 gene as the cause of an X-linked phenotype similar to RSS/3C syndrome in the family described here. | 24916641 | 2015 | ||||
|
0.510 | GermlineCausalMutation | disease | ORPHANET | We identified a variant in CCDC22 gene as the cause of an X-linked phenotype similar to RSS/3C syndrome in the family described here. | 24916641 | 2015 | ||||
|
0.510 | Biomarker | disease | CTD_human | |||||||
|
0.010 | GeneticVariation | disease | BEFREE | One such gene was DPH1, in which a homozygous missense mutation was associated with a 3C syndrome-like phenotype in four patients from a single extended family. | 26220823 | 2015 | ||||
|
0.010 | Biomarker | disease | BEFREE | This observation confirms the previous finding of cerebellar anomalies in Shprintzen syndrome, and suggests an overlap between the VCFS and 3C syndrome. | 8870617 | 1996 |