Gene: TTC21B ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B 		0.700 Biomarker disease GENOMICS_ENGLAND A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. 24876116 2014
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B 		0.700 CausalMutation disease CLINVAR A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. 24876116 2014
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B 		0.700 GermlineCausalMutation disease ORPHANET Ciliary disorder of the skeleton. 22791528 2012
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B 		0.700 GeneticVariation disease CLINVAR Here we show that mutations in TTC21B, which encodes the retrograde intraflagellar transport protein IFT139, cause both isolated nephronophthisis and syndromic Jeune asphyxiating thoracic dystrophy. 21258341 2011
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B 		0.700 GermlineCausalMutation disease ORPHANET Here we show that mutations in TTC21B, which encodes the retrograde intraflagellar transport protein IFT139, cause both isolated nephronophthisis and syndromic Jeune asphyxiating thoracic dystrophy. 21258341 2011
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B 		0.700 CausalMutation disease CLINVAR Here we show that mutations in TTC21B, which encodes the retrograde intraflagellar transport protein IFT139, cause both isolated nephronophthisis and syndromic Jeune asphyxiating thoracic dystrophy. 21258341 2011
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B 		0.700 Biomarker disease CTD_human Here we show that mutations in TTC21B, which encodes the retrograde intraflagellar transport protein IFT139, cause both isolated nephronophthisis and syndromic Jeune asphyxiating thoracic dystrophy. 21258341 2011
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B 		0.700 Biomarker disease GENOMICS_ENGLAND