Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
0.700 GeneticVariation disease CLINVAR
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
0.700 CausalMutation disease CLINVAR
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
0.700 Biomarker disease CTD_human
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
0.700 GermlineCausalMutation disease ORPHANET Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene. 23543484 2013
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
0.700 GeneticVariation disease UNIPROT A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F. 31071488 2019
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
0.700 GeneticVariation disease UNIPROT Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression. 31192305 2019
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
0.700 GeneticVariation disease UNIPROT Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F. 23667635 2013
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
0.700 GeneticVariation disease UNIPROT Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene. 23543484 2013
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
0.700 GeneticVariation disease UNIPROT The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection. 31465518 2019
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
0.700 Biomarker disease GENOMICS_ENGLAND