rs869312733, TMEM98

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
NANOPHTHALMOS 4
CUI: C4014848
Disease: NANOPHTHALMOS 4
0.800 GeneticVariation UNIPROT Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos. 26392740 2015
NANOPHTHALMOS 4
CUI: C4014848
Disease: NANOPHTHALMOS 4
0.800 GeneticVariation UNIPROT Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12. 24852644 2014
NANOPHTHALMOS 4
CUI: C4014848
Disease: NANOPHTHALMOS 4
0.800 CausalMutation CLINVAR
Microphthalmos
CUI: C0026010
Disease: Microphthalmos
0.020 GeneticVariation BEFREE Two dominant missense mutations of TMEM98, A193P and H196P, are associated with human nanophthalmos. 31266059 2019
Microphthalmos
CUI: C0026010
Disease: Microphthalmos
0.020 GeneticVariation BEFREE Sanger sequencing subsequently showed that all other members of this pedigree with nanophthalmos also carry the His196Pro TMEM98 mutation. 26392740 2015