TMEM98, transmembrane protein 98, 26022

N. diseases: 22; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014848
Disease: NANOPHTHALMOS 4
NANOPHTHALMOS 4 		0.700 GeneticVariation disease UNIPROT Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos. 26392740 2015
CUI: C4014848
Disease: NANOPHTHALMOS 4
NANOPHTHALMOS 4 		0.700 Biomarker disease GENOMICS_ENGLAND Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos. 26392740 2015
CUI: C4014848
Disease: NANOPHTHALMOS 4
NANOPHTHALMOS 4 		0.700 GeneticVariation disease UNIPROT Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12. 24852644 2014
CUI: C4014848
Disease: NANOPHTHALMOS 4
NANOPHTHALMOS 4 		0.700 Biomarker disease CTD_human
CUI: C4014848
Disease: NANOPHTHALMOS 4
NANOPHTHALMOS 4 		0.700 CausalMutation disease CLINVAR
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
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.100 Biomarker disease HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C1855925
Disease: Hyperopia, High
Hyperopia, High 		0.100 Biomarker phenotype HPO
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		0.100 Biomarker phenotype HPO
CUI: C4025836
Disease: Abnormal choroid morphology
Abnormal choroid morphology 		0.100 Biomarker disease HPO
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.020 Biomarker disease BEFREE Transmembrane protein 98 (TMEM98), known as a novel gene related to lung cancer, hepatocellular carcinoma, differentiation of T helper 1 cells and normal eye development, has no defined role reported in terms of atherosclerosis (AS). 29152140 2017
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 Biomarker disease BEFREE Transmembrane protein 98 (TMEM98), known as a novel gene related to lung cancer, hepatocellular carcinoma, differentiation of T helper 1 cells and normal eye development, has no defined role reported in terms of atherosclerosis (AS). 29152140 2017
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 Biomarker disease BEFREE Transmembrane protein 98 (TMEM98), known as a novel gene related to lung cancer, hepatocellular carcinoma, differentiation of T helper 1 cells and normal eye development, has no defined role reported in terms of atherosclerosis (AS). 29152140 2017
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.020 Biomarker disease BEFREE siRNA-TMEM98 inhibits the invasion and migration of lung cancer cells. 26884835 2015
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 Biomarker disease BEFREE We attempt to explore the biological role of TMEM98 in the human lung carcinoma. 26884835 2015
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 Biomarker disease BEFREE siRNA-TMEM98 inhibits the invasion and migration of lung cancer cells. 26884835 2015
CUI: C1838502
Disease: NANOPHTHALMOS 1
NANOPHTHALMOS 1 		0.020 GeneticVariation disease BEFREE Our discovery of two additional TMEM98 mutations confirms the important role of the gene in the pathogenesis of autosomal dominant nanophthalmos. 26392740 2015
CUI: C1838502
Disease: NANOPHTHALMOS 1
NANOPHTHALMOS 1 		0.020 GeneticVariation disease BEFREE Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12. 24852644 2014
CUI: C0154823
Disease: Retinal defect
Retinal defect 		0.010 Biomarker phenotype BEFREE Missense Mutations in the Human Nanophthalmos Gene TMEM98 Cause Retinal Defects in the Mouse. 31266059 2019
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 Biomarker disease BEFREE We then explored the possible role of TMEM98 in the pathogenesis of AS <i>in vitro</i>. 29152140 2017
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 Biomarker disease BEFREE We then explored the possible role of TMEM98 in the pathogenesis of AS <i>in vitro</i>. 29152140 2017