TTC21B, tetratricopeptide repeat domain 21B, 79809

N. diseases: 76; N. variants: 24
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140511594
rs140511594
Entrez Id: 79809;100506134
Gene Symbol: TTC21B;TTC21B-AS1
TTC21B;TTC21B-AS1
CUI: C3151186
Disease:
NEPHRONOPHTHISIS 12 		A 0.800 CausalMutation CLINVAR Contribution of the TTC21B gene to glomerular and cystic kidney diseases. 26940125 2017
dbSNP: rs140511594
rs140511594
Entrez Id: 79809;100506134
Gene Symbol: TTC21B;TTC21B-AS1
TTC21B;TTC21B-AS1
CUI: C3151186
Disease:
NEPHRONOPHTHISIS 12 		A 0.800 CausalMutation CLINVAR A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. 24876116 2014
dbSNP: rs140511594
rs140511594
Entrez Id: 79809;100506134
Gene Symbol: TTC21B;TTC21B-AS1
TTC21B;TTC21B-AS1
CUI: C3151186
Disease:
NEPHRONOPHTHISIS 12 		0.800 GeneticVariation UNIPROT TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 21258341 2011
dbSNP: rs387907060
rs387907060
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B
CUI: C3151185
Disease:
SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY 		0.800 GeneticVariation UNIPROT TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 21258341 2011
dbSNP: rs387907060
rs387907060
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B
CUI: C3151185
Disease:
SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY 		G 0.800 CausalMutation CLINVAR
dbSNP: rs140511594
rs140511594
Entrez Id: 79809;100506134
Gene Symbol: TTC21B;TTC21B-AS1
TTC21B;TTC21B-AS1
CUI: C0687120
Disease:
Nephronophthisis 		A 0.710 CausalMutation CLINVAR Notably, tubular basement membrane thickening reminiscent of that observed in nephronophthisis was present in patients with FSGS and the p.P209L mutation. 24876116 2014
dbSNP: rs140511594
rs140511594
Entrez Id: 79809;100506134
Gene Symbol: TTC21B;TTC21B-AS1
TTC21B;TTC21B-AS1
CUI: C0687120
Disease:
Nephronophthisis 		0.710 GeneticVariation BEFREE Notably, tubular basement membrane thickening reminiscent of that observed in nephronophthisis was present in patients with FSGS and the p.P209L mutation. 24876116 2014
dbSNP: rs140511594
rs140511594
Entrez Id: 79809;100506134
Gene Symbol: TTC21B;TTC21B-AS1
TTC21B;TTC21B-AS1
CUI: C0687120
Disease:
Nephronophthisis 		A 0.710 CausalMutation CLINVAR TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 21258341 2011
dbSNP: rs9973361
rs9973361
Entrez Id: 79809;100506124
Gene Symbol: TTC21B;LOC100506124
TTC21B;LOC100506124
CUI: C0005938
Disease:
Bone Density 		A 0.700 GeneticVariation GWASCAT Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects. 29304378 2018
dbSNP: rs140511594
rs140511594
Entrez Id: 79809;100506134
Gene Symbol: TTC21B;TTC21B-AS1
TTC21B;TTC21B-AS1
CUI: C0009714
Disease:
Hepatic Fibrosis, Congenital 		A 0.700 CausalMutation CLINVAR Contribution of the TTC21B gene to glomerular and cystic kidney diseases. 26940125 2017
dbSNP: rs140511594
rs140511594
Entrez Id: 79809;100506134
Gene Symbol: TTC21B;TTC21B-AS1
TTC21B;TTC21B-AS1
CUI: C3887499
Disease:
Renal cyst 		A 0.700 CausalMutation CLINVAR Contribution of the TTC21B gene to glomerular and cystic kidney diseases. 26940125 2017
dbSNP: rs140511594
rs140511594
Entrez Id: 79809;100506134
Gene Symbol: TTC21B;TTC21B-AS1
TTC21B;TTC21B-AS1
CUI: C3887499
Disease:
Renal cyst 		A 0.700 CausalMutation CLINVAR A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. 24876116 2014
dbSNP: rs140511594
rs140511594
Entrez Id: 79809;100506134
Gene Symbol: TTC21B;TTC21B-AS1
TTC21B;TTC21B-AS1
CUI: C0265275
Disease:
Jeune thoracic dystrophy 		A 0.700 CausalMutation CLINVAR A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. 24876116 2014
dbSNP: rs140511594
rs140511594
Entrez Id: 79809;100506134
Gene Symbol: TTC21B;TTC21B-AS1
TTC21B;TTC21B-AS1
CUI: C0009714
Disease:
Hepatic Fibrosis, Congenital 		A 0.700 CausalMutation CLINVAR A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. 24876116 2014
dbSNP: rs376308209
rs376308209
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B
CUI: C3151186
Disease:
NEPHRONOPHTHISIS 12 		0.700 GeneticVariation UNIPROT Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360 2012
dbSNP: rs746700857
rs746700857
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B
CUI: C3151186
Disease:
NEPHRONOPHTHISIS 12 		0.700 GeneticVariation UNIPROT Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360 2012
dbSNP: rs777427926
rs777427926
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B
CUI: C3151186
Disease:
NEPHRONOPHTHISIS 12 		0.700 GeneticVariation UNIPROT Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360 2012
dbSNP: rs140511594
rs140511594
Entrez Id: 79809;100506134
Gene Symbol: TTC21B;TTC21B-AS1
TTC21B;TTC21B-AS1
CUI: C0265275
Disease:
Jeune thoracic dystrophy 		A 0.700 CausalMutation CLINVAR TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 21258341 2011
dbSNP: rs146320075
rs146320075
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B
CUI: C3151186
Disease:
NEPHRONOPHTHISIS 12 		0.700 GeneticVariation UNIPROT TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 21258341 2011
dbSNP: rs1553508246
rs1553508246
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B
CUI: C0687120
Disease:
Nephronophthisis 		C 0.700 GeneticVariation CLINVAR TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 21258341 2011
dbSNP: rs1553508246
rs1553508246
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B
CUI: C0265275
Disease:
Jeune thoracic dystrophy 		C 0.700 GeneticVariation CLINVAR TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 21258341 2011
dbSNP: rs376308209
rs376308209
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B
CUI: C3151186
Disease:
NEPHRONOPHTHISIS 12 		0.700 GeneticVariation UNIPROT TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 21258341 2011
dbSNP: rs746700857
rs746700857
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B
CUI: C3151186
Disease:
NEPHRONOPHTHISIS 12 		0.700 GeneticVariation UNIPROT TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 21258341 2011
dbSNP: rs777427926
rs777427926
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B
CUI: C3151186
Disease:
NEPHRONOPHTHISIS 12 		0.700 GeneticVariation UNIPROT TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 21258341 2011
dbSNP: rs1040877016
rs1040877016
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B
CUI: C3151186
Disease:
NEPHRONOPHTHISIS 12 		0.700 GeneticVariation UNIPROT