| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.470 | GeneticVariation | disease | BEFREE | The most prevalent RP-causing mutations are the Alu insertion (c.1297_8ins353, p.K433Rins31*) in the male germ cell-associated kinase (MAK) gene (39% of families with a known genetic cause for RP) and c.124A>G, p.K42E in dehydrodolichol diphosphate synthase (DHDDS) (33%). | 29276052 | 2018 | ||||
|
0.470 | GeneticVariation | disease | BEFREE | We report a patient with retinitis pigmentosa (RP) with ICS due to a mutation in the male germ cell-associated kinase (MAK) gene. | 26894652 | 2016 | ||||
|
0.470 | GeneticVariation | disease | BEFREE | Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa. | 26558903 | 2015 | ||||
|
0.470 | Biomarker | disease | BEFREE | Many retinal diseases, such as Best disease and male germ cell associated kinase (MAK)-associated retinitis pigmentosa, preferentially affect distinct topographic regions of the retina. | 25446321 | 2014 | ||||
|
0.470 | Biomarker | disease | BEFREE | The carrier frequency of this mutation among 1207 unrelated Ashkenazi control subjects was 1 in 55, making it the most common cause of heritable retinal disease in this population and MAK-associated RP the sixth most common Mendelian disease overall in this group. | 22110072 | 2011 | ||||
|
0.470 | Biomarker | disease | BEFREE | Induced pluripotent stem cells were derived from the skin of the proband and a patient with non-MAK-associated RP (RP control). | 21825139 | 2011 | ||||
|
0.470 | GeneticVariation | disease | BEFREE | Subsequent sequence analyses of additional individuals with RP identified five probands with missense mutations in MAK. | 21835304 | 2011 | ||||
|
0.470 | Biomarker | disease | GENOMICS_ENGLAND | Negative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survival. | 21148103 | 2010 | ||||
|
0.470 | CausalMutation | disease | CLINVAR | |||||||
|
0.470 | GeneticVariation | disease | CLINVAR |