TMEM98, transmembrane protein 98, 26022

N. diseases: 22; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777690
rs587777690
Entrez Id: 26022
Gene Symbol: TMEM98
TMEM98
CUI: C4014848
Disease:
NANOPHTHALMOS 4 		0.800 GeneticVariation UNIPROT Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos. 26392740 2015
dbSNP: rs869312733
rs869312733
Entrez Id: 26022
Gene Symbol: TMEM98
TMEM98
CUI: C4014848
Disease:
NANOPHTHALMOS 4 		0.800 GeneticVariation UNIPROT Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos. 26392740 2015
dbSNP: rs587777690
rs587777690
Entrez Id: 26022
Gene Symbol: TMEM98
TMEM98
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
dbSNP: rs869312733
rs869312733
Entrez Id: 26022
Gene Symbol: TMEM98
TMEM98
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
dbSNP: rs587777690
rs587777690
Entrez Id: 26022
Gene Symbol: TMEM98
TMEM98
CUI: C4014848
Disease:
NANOPHTHALMOS 4 		C 0.800 CausalMutation CLINVAR
dbSNP: rs869312733
rs869312733
Entrez Id: 26022
Gene Symbol: TMEM98
TMEM98
CUI: C4014848
Disease:
NANOPHTHALMOS 4 		C 0.800 CausalMutation CLINVAR
dbSNP: rs869312734
rs869312734
Entrez Id: 26022
Gene Symbol: TMEM98
TMEM98
CUI: C4014848
Disease:
NANOPHTHALMOS 4 		T 0.700 CausalMutation CLINVAR
dbSNP: rs869312733
rs869312733
Entrez Id: 26022
Gene Symbol: TMEM98
TMEM98
CUI: C0026010
Disease:
Microphthalmos 		0.020 GeneticVariation BEFREE Two dominant missense mutations of TMEM98, A193P and H196P, are associated with human nanophthalmos. 31266059 2019
dbSNP: rs869312733
rs869312733
Entrez Id: 26022
Gene Symbol: TMEM98
TMEM98
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
dbSNP: rs587777690
rs587777690
Entrez Id: 26022
Gene Symbol: TMEM98
TMEM98
CUI: C0026010
Disease:
Microphthalmos 		0.010 GeneticVariation BEFREE Two dominant missense mutations of TMEM98, A193P and H196P, are associated with human nanophthalmos. 31266059 2019