Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4233
Gene Symbol: MET
MET
0.010 AlteredExpression disease BEFREE Markedly increased expression of HGF receptor, c-Met tyrosine kinase in renal dysplasia suggests that HGF may be involved in the development of renal dysplasia. 12750986 2003
Entrez Id: 3458
Gene Symbol: IFNG
IFNG
0.010 AlteredExpression disease BEFREE Constitutive metanephric mesenchyme-specific expression of interferon-gamma causes renal dysplasia by regulating Sall1 expression. 29771971 2018
Entrez Id: 655
Gene Symbol: BMP7
BMP7
0.010 Biomarker disease BEFREE Matrilysin (MMP-7) inhibition of BMP-7 induced renal tubular branching morphogenesis suggests a role in the pathogenesis of human renal dysplasia. 22215634 2012
Entrez Id: 54796
Gene Symbol: BNC2
BNC2
0.010 Biomarker disease BEFREE Congenital bladder neck obstruction (or lower urinary tract obstruction [LUTO]) describes a heterogeneous group of congenital anomalies presenting with similar prenatal ultrasonographic findings of dilated posterior urethra, megacystis, hydronephrosis, oligohydramnios and often with associated renal dysplasia. 30819578 2019
Entrez Id: 55278
Gene Symbol: QRSL1
QRSL1
0.010 GeneticVariation disease BEFREE The hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by mutations of a member of the GATA-binding family of transcription factors, GATA3. 15705923 2005
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
0.010 Biomarker disease BEFREE The role of NOTCH2 and JAG1 in formation of proximal nephron structures and podocytes might explain the observed phenotypes of renal dysplasia and proteinuria in patients with Alagille syndrome, and renal tubular acidosis may be the result of JAG1 expression in the collecting ducts. 23752887 2013
Entrez Id: 3082
Gene Symbol: HGF
HGF
0.010 Biomarker disease BEFREE Markedly increased expression of HGF receptor, c-Met tyrosine kinase in renal dysplasia suggests that HGF may be involved in the development of renal dysplasia. 12750986 2003
Entrez Id: 6943
Gene Symbol: TCF21
TCF21
0.010 AlteredExpression disease BEFREE In humans, <i>Tcf21</i> mRNA levels are reduced in renal tissue from human fetuses with renal dysplasia. 30377232 2018
Entrez Id: 9158
Gene Symbol: FIBP
FIBP
0.010 GeneticVariation disease BEFREE A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene. 27183861 2016
Entrez Id: 3258
Gene Symbol: HPT
HPT
0.010 Biomarker disease BEFREE Hypoparathyroidism with sensorineural deafness and renal dysplasia (HDR) syndrome is an autosomal dominant condition caused by mutations of the gene encoding the dual zinc-finger transcription factor, GATA3. 29593425 2018
Entrez Id: 5979
Gene Symbol: RET
RET
0.010 GeneticVariation disease BEFREE We report what we believe to be the first case of a patient with multiple endocrine neoplasia type 2A (MEN 2A) and renal dysplasia associated with an RET 634 mutation. 12606135 2003
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
0.010 GeneticVariation disease BEFREE Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay. 22609145 2012
Entrez Id: 4010
Gene Symbol: LMX1B
LMX1B
0.010 GeneticVariation disease BEFREE Targeted disruption of Lmx1b results in skeletal defects including hypoplastic nails, absent patellae and a unique form of renal dysplasia (see accompanying manuscript by H. Chen et al.; ref.2). 9590287 1998
Entrez Id: 55143
Gene Symbol: CDCA8
CDCA8
0.010 GeneticVariation disease BEFREE On the basis of personal observations as well as in view of data from the literature it is maintained that the BOR (branchio-oto-renal dysplasia) syndrome [12,30-32] and the BO (branchio-oto dysplasia) syndrome are in fact the same affection. 6964893 1980
Entrez Id: 4316
Gene Symbol: MMP7
MMP7
0.010 Biomarker disease BEFREE Matrilysin (MMP-7) inhibition of BMP-7 induced renal tubular branching morphogenesis suggests a role in the pathogenesis of human renal dysplasia. 22215634 2012
Entrez Id: 3320
Gene Symbol: HSP90AA1
HSP90AA1
0.010 AlteredExpression disease BEFREE Ahsa1 and Hsp90 activity confers more severe craniofacial phenotypes in a zebrafish model of hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR). 23720234 2013
Entrez Id: 1602
Gene Symbol: DACH1
DACH1
0.010 GeneticVariation disease BEFREE Here, we present a patient with renal dysplasia carrying homozygous missense mutations in both BMP4 (p.N150K) and DACH1 (p.R684C). 23262432 2013
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
0.200 Biomarker disease HPO
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
0.110 Biomarker disease HPO
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
0.110 Biomarker disease HPO
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
0.110 Biomarker disease HPO
Entrez Id: 55165
Gene Symbol: CEP55
CEP55
0.110 Biomarker disease HPO
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
0.100 Biomarker disease HPO
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
0.100 Biomarker disease HPO
Entrez Id: 9096
Gene Symbol: TBX18
TBX18
0.100 Biomarker disease HPO