CD151, CD151 molecule (Raph blood group), 977

N. diseases: 101; N. variants: 3
Disease: Nephropathy with Pretibial Epidermolysis Bullosa and Deafness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836823
Disease: Nephropathy with Pretibial Epidermolysis Bullosa and Deafness
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 		0.700 Biomarker disease GENOMICS_ENGLAND Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy. 29138120 2018
CUI: C1836823
Disease: Nephropathy with Pretibial Epidermolysis Bullosa and Deafness
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 		0.700 Biomarker disease GENOMICS_ENGLAND Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy. 29138120 2018
CUI: C1836823
Disease: Nephropathy with Pretibial Epidermolysis Bullosa and Deafness
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 		0.700 GermlineCausalMutation disease ORPHANET CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin. 15265795 2004
CUI: C1836823
Disease: Nephropathy with Pretibial Epidermolysis Bullosa and Deafness
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 		0.700 Biomarker disease GENOMICS_ENGLAND CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin. 15265795 2004
CUI: C1836823
Disease: Nephropathy with Pretibial Epidermolysis Bullosa and Deafness
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 		0.700 Biomarker disease GENOMICS_ENGLAND CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin. 15265795 2004
CUI: C1836823
Disease: Nephropathy with Pretibial Epidermolysis Bullosa and Deafness
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 		0.700 Biomarker disease GENOMICS_ENGLAND CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin. 15265795 2004
CUI: C1836823
Disease: Nephropathy with Pretibial Epidermolysis Bullosa and Deafness
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 		0.700 Biomarker disease CTD_human
CUI: C1836823
Disease: Nephropathy with Pretibial Epidermolysis Bullosa and Deafness
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 		0.700 CausalMutation disease CLINVAR
CUI: C1836823
Disease: Nephropathy with Pretibial Epidermolysis Bullosa and Deafness
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 		0.700 Biomarker disease GENOMICS_ENGLAND