TTC21B, tetratricopeptide repeat domain 21B, 79809

N. diseases: 76; N. variants: 24
Disease: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151185
Disease: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY 		0.600 Biomarker disease GENOMICS_ENGLAND A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. 24876116 2014
CUI: C3151185
Disease: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY 		0.600 GeneticVariation disease UNIPROT TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 21258341 2011
CUI: C3151185
Disease: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3151185
Disease: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3151185
Disease: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY 		0.600 CausalMutation disease CLINVAR
CUI: C3151185
Disease: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY 		0.600 Biomarker disease GENOMICS_ENGLAND