| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
NEPHRONOPHTHISIS 12
|
0.800 | CausalMutation | CLINVAR | Contribution of the TTC21B gene to glomerular and cystic kidney diseases. | 26940125 | 2017 | |||||
NEPHRONOPHTHISIS 12
|
0.800 | CausalMutation | CLINVAR | A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. | 24876116 | 2014 | |||||
NEPHRONOPHTHISIS 12
|
0.800 | GeneticVariation | UNIPROT | TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. | 21258341 | 2011 | |||||
Nephronophthisis
|
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 | |||||
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 | |||||
Nephronophthisis
|
0.710 | CausalMutation | CLINVAR | TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. | 21258341 | 2011 | |||||
Hepatic Fibrosis, Congenital
|
0.700 | CausalMutation | CLINVAR | Contribution of the TTC21B gene to glomerular and cystic kidney diseases. | 26940125 | 2017 | |||||
Renal cyst
|
0.700 | CausalMutation | CLINVAR | Contribution of the TTC21B gene to glomerular and cystic kidney diseases. | 26940125 | 2017 | |||||
Renal cyst
|
0.700 | CausalMutation | CLINVAR | A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. | 24876116 | 2014 | |||||
Jeune thoracic dystrophy
|
0.700 | CausalMutation | CLINVAR | A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. | 24876116 | 2014 | |||||
Hepatic Fibrosis, Congenital
|
0.700 | CausalMutation | CLINVAR | A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. | 24876116 | 2014 | |||||
Jeune thoracic dystrophy
|
0.700 | CausalMutation | CLINVAR | TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. | 21258341 | 2011 | |||||
SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY
|
0.700 | CausalMutation | CLINVAR | ||||||||
Finnish congenital nephrotic syndrome
|
0.700 | CausalMutation | CLINVAR | ||||||||
NEPHRONOPHTHISIS 2
|
0.700 | CausalMutation | CLINVAR | ||||||||
Senior-Loken Syndrome 1
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Kidney Diseases
|
0.020 | GeneticVariation | BEFREE | We identified a novel TTC21B mutation demonstrating that p.P209L is not the unique causative mutation of this nephropathy. | 26940125 | 2017 | |||||
Kidney Diseases
|
0.020 | GeneticVariation | BEFREE | Altogether, these data suggest that this homozygous TTC21B p.P209L mutation leads to a novel hereditary kidney disorder with both glomerular and tubulointerstitial damages. | 24876116 | 2014 | |||||
Nephritis, Interstitial
|
0.010 | GeneticVariation | BEFREE | Our results confirm the causal role of the homozygous p.P209L TTC21B mutation in two new families with FSGS and tubulointerstitial disease. | 26940125 | 2017 | |||||
Nephritis, Tubulointerstitial
|
0.010 | GeneticVariation | BEFREE | Our results confirm the causal role of the homozygous p.P209L TTC21B mutation in two new families with FSGS and tubulointerstitial disease. | 26940125 | 2017 | |||||
Focal glomerulosclerosis
|
0.010 | GeneticVariation | BEFREE | Our results confirm the causal role of the homozygous p.P209L TTC21B mutation in two new families with FSGS and tubulointerstitial disease. | 26940125 | 2017 |