TMEM98, transmembrane protein 98, 26022

N. diseases: 22; N. variants: 3
Disease: Microphthalmos ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.420 GeneticVariation disease BEFREE The human TMEM98 nanophthalmos missense mutations were made in the mouse gene by CRISPR-Cas9. 31266059 2019
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.420 Biomarker disease BEFREE The genetic basis of nanophthalmos in the pedigrees was studied with linkage analysis, whole exome sequencing, and candidate gene (i.e., TMEM98) sequencing to identify the nanophthalmos-causing gene. 26392740 2015
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.420 GermlineCausalMutation disease ORPHANET A novel gene associated with nanophthalmos, TMEM98 most likely represents the cause of the disease in this family. 24852644 2014
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.420 Biomarker disease HPO