Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 170302
Gene Symbol: ARX
ARX
0.100 Biomarker disease HPO
Entrez Id: 80114
Gene Symbol: BICC1
BICC1
0.100 Biomarker disease HPO
Entrez Id: 652
Gene Symbol: BMP4
BMP4
0.020 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: 652
Gene Symbol: BMP4
BMP4
0.020 GeneticVariation disease BEFREE We investigate a variant in the gene encoding growth factor BMP4 in a family with Stickler syndrome with associated renal dysplasia. 30568244 2019
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: 8573
Gene Symbol: CASK
CASK
0.100 Biomarker disease HPO
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: 6792
Gene Symbol: CDKL5
CDKL5
0.100 Biomarker disease HPO
Entrez Id: 55165
Gene Symbol: CEP55
CEP55
0.110 Biomarker disease BEFREE An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia. 30622327 2019
Entrez Id: 55165
Gene Symbol: CEP55
CEP55
0.110 Biomarker disease HPO
Entrez Id: 4435
Gene Symbol: CITED1
CITED1
0.010 GeneticVariation disease BEFREE Loss of placental Cited1 was required for Cited1 mutants to develop renal dysplasia, and this was not dependent on alterations in embryonic Cited1 expression. 19297558 2009
Entrez Id: 10229
Gene Symbol: COQ7
COQ7
0.100 Biomarker disease HPO
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
0.100 Biomarker disease HPO
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
0.100 Biomarker disease HPO
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.020 AlteredExpression disease BEFREE Our findings demonstrate that the overexpression of β-catenin in stromal cells is sufficient to cause renal dysplasia. 26956838 2016
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.020 Biomarker disease BEFREE Together, these data support a model in which the elevation of β-catenin in the metanephric mesenchyme results in cell-autonomous and non-cell-autonomous events that lead to the genesis of renal dysplasia. 24637293 2014
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: 79659
Gene Symbol: DYNC2H1
DYNC2H1
0.100 Biomarker disease HPO
Entrez Id: 90332
Gene Symbol: EXOC3L2
EXOC3L2
0.300 Biomarker disease GENOMICS_ENGLAND Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood. 30327448 2019
Entrez Id: 90332
Gene Symbol: EXOC3L2
EXOC3L2
0.300 Biomarker disease GENOMICS_ENGLAND Characterizing the morbid genome of ciliopathies. 27894351 2016
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
0.110 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: 2138
Gene Symbol: EYA1
EYA1
0.110 Biomarker disease HPO
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: 79147
Gene Symbol: FKRP
FKRP
0.100 Biomarker disease HPO