Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4117
Gene Symbol: MAK
MAK
CUI: C3280042
Disease: RETINITIS PIGMENTOSA 62
RETINITIS PIGMENTOSA 62
0.700 GeneticVariation UNIPROT Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa. 21825139

2011

Entrez Id: 4117
Gene Symbol: MAK
MAK
CUI: C3280042
Disease: RETINITIS PIGMENTOSA 62
RETINITIS PIGMENTOSA 62
0.700 GeneticVariation UNIPROT Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa. 21835304

2011