Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1286
Gene Symbol: COL4A4
COL4A4 		0.800 Biomarker disease CTD_human
Entrez Id: 1285
Gene Symbol: COL4A3
COL4A3 		0.800 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1285
Gene Symbol: COL4A3
COL4A3 		0.800 CausalMutation disease CLINVAR
Entrez Id: 1286
Gene Symbol: COL4A4
COL4A4 		0.800 CausalMutation disease CLINVAR
Entrez Id: 1285
Gene Symbol: COL4A3
COL4A3 		0.800 Biomarker disease CTD_human
Entrez Id: 1286
Gene Symbol: COL4A4
COL4A4 		0.800 GeneticVariation disease CLINVAR
Entrez Id: 654841
Gene Symbol: MFF-DT
MFF-DT 		0.100 CausalMutation disease CLINVAR
Entrez Id: 1286
Gene Symbol: COL4A4
COL4A4 		0.800 Biomarker disease BEFREE On electron microscopy, thickness of the glomerular basement membrane (BGM) was found to distinguish benign familial hematuria (BFH - 10 cases) from non familial idiopathic recurrent hematuria (IRH - 9 cases). 7055992 1982
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12 		0.010 GeneticVariation disease BEFREE On electron microscopy, thickness of the glomerular basement membrane (BGM) was found to distinguish benign familial hematuria (BFH - 10 cases) from non familial idiopathic recurrent hematuria (IRH - 9 cases). 7055992 1982
Entrez Id: 1286
Gene Symbol: COL4A4
COL4A4 		0.800 GeneticVariation disease BEFREE We present here linkage of benign familial hematuria with the COL4A3 and COL4A4 genes at 2q35-37 (Zmax = 3.58 at theta = 0.0). 8787673 1996
Entrez Id: 1285
Gene Symbol: COL4A3
COL4A3 		0.800 GeneticVariation disease BEFREE We present here linkage of benign familial hematuria with the COL4A3 and COL4A4 genes at 2q35-37 (Zmax = 3.58 at theta = 0.0). 8787673 1996
Entrez Id: 1286
Gene Symbol: COL4A4
COL4A4 		0.800 GeneticVariation disease UNIPROT We present here linkage of benign familial hematuria with the COL4A3 and COL4A4 genes at 2q35-37 (Zmax = 3.58 at theta = 0.0). 8787673 1996
Entrez Id: 3476
Gene Symbol: IGBP1
IGBP1 		0.020 GeneticVariation disease BEFREE Benign familial hematuria due to mutation of the type IV collagen alpha4 gene. 8787673 1996
Entrez Id: 1285
Gene Symbol: COL4A3
COL4A3 		0.800 GeneticVariation disease CLINVAR The clinical spectrum of type IV collagen mutations. 9195222 1997
Entrez Id: 654841
Gene Symbol: MFF-DT
MFF-DT 		0.100 GeneticVariation disease CLINVAR The clinical spectrum of type IV collagen mutations. 9195222 1997
Entrez Id: 1286
Gene Symbol: COL4A4
COL4A4 		0.800 GeneticVariation disease BEFREE Benign familial hematuria (BFH: MIM141200) is an autosomal-dominant disease accounting for one-fifth of all hematuria of unknown cause in children. 10460935 1999
Entrez Id: 1286
Gene Symbol: COL4A4
COL4A4 		0.800 GeneticVariation disease BEFREE Benign familial hematuria associated with a novel COL4A4 mutation. 11685592 2001
Entrez Id: 1285
Gene Symbol: COL4A3
COL4A3 		0.800 GeneticVariation disease UNIPROT Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria. 11961012 2002
Entrez Id: 1286
Gene Symbol: COL4A4
COL4A4 		0.800 GeneticVariation disease UNIPROT Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria. 11961012 2002
Entrez Id: 1285
Gene Symbol: COL4A3
COL4A3 		0.800 GeneticVariation disease BEFREE Mutations of COL4A3 and COL4A4 have been reported both in autosomal-recessive and autosomal-dominant ATS, as well as in benign familial hematuria (BFH). 12028435 2002
Entrez Id: 1286
Gene Symbol: COL4A4
COL4A4 		0.800 GeneticVariation disease BEFREE Mutations of COL4A3 and COL4A4 have been reported both in autosomal-recessive and autosomal-dominant ATS, as well as in benign familial hematuria (BFH). 12028435 2002
Entrez Id: 1286
Gene Symbol: COL4A4
COL4A4 		0.800 GeneticVariation disease UNIPROT Mutations in the COL4A4 gene in thin basement membrane disease. 12631110 2003
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.010 AlteredExpression disease BEFREE In addition, levels of PTCH (patched) mRNA were increased relative to unremarkable epidermis in familial BFH lesions but to a lesser degree and in a different pattern than that seen in BCC. 12652194 2003
Entrez Id: 5111
Gene Symbol: PCNA
PCNA 		0.010 Biomarker disease BEFREE Immunohistochemical staining for the proliferation markers proliferating cell nuclear antigen and Ki-67 demonstrated less staining in BFH than in BCC. 12652194 2003
Entrez Id: 1286
Gene Symbol: COL4A4
COL4A4 		0.800 GeneticVariation disease BEFREE The present study describes molecular changes of the COL4A4 gene that cause both diseases: autosomal recessive AS and BFH in a consanguine family with a 400-year-old history of haematuria. 12748344 2003