Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5076
Gene Symbol: PAX2
PAX2 		0.150 GeneticVariation disease BEFREE Although renal coloboma syndrome (RCS) with simultaneous kidney and eye involvement is the most common phenotype of PAX2 mutations, current literature supports that such mutations may have profuse clinical manifestations and renal hypoplasia is one distinct entity in the spectrum. 30241513 2018
Entrez Id: 5076
Gene Symbol: PAX2
PAX2 		0.150 Biomarker disease BEFREE Mutations in the paired-box gene, PAX2, have been identified in approximately half of individuals with classic findings of renal hypoplasia/dysplasia and abnormalities of the optic nerve. 22213154 2012
Entrez Id: 5076
Gene Symbol: PAX2
PAX2 		0.150 GeneticVariation disease BEFREE Renal coloboma syndrome (RCS) is an autosomal dominant disorder caused by PAX2 gene mutations and characterized by renal hypoplasia and optic disc coloboma. 17541647 2007
Entrez Id: 5076
Gene Symbol: PAX2
PAX2 		0.150 GeneticVariation disease BEFREE Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice. 10587573 2000
Entrez Id: 5076
Gene Symbol: PAX2
PAX2 		0.150 GeneticVariation disease BEFREE Humans carrying a single Pax2 mutant allele exhibit renal hypoplasia, vesicoureteric reflux, and optic nerve colobomas. 10535325 1999
Entrez Id: 5076
Gene Symbol: PAX2
PAX2 		0.150 Biomarker disease HPO
Entrez Id: 6092
Gene Symbol: ROBO2
ROBO2 		0.110 GeneticVariation disease BEFREE ROBO2 gene variants in children with primary nonsyndromic vesicoureteral reflux with or without renal hypoplasia/dysplasia. 27002985 2016
Entrez Id: 6092
Gene Symbol: ROBO2
ROBO2 		0.110 Biomarker disease HPO
Entrez Id: 8942
Gene Symbol: KYNU
KYNU 		0.100 CausalMutation disease CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Entrez Id: 23498
Gene Symbol: HAAO
HAAO 		0.100 CausalMutation disease CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Entrez Id: 50628
Gene Symbol: GEMIN4
GEMIN4 		0.100 Biomarker disease HPO
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		0.100 Biomarker disease HPO
Entrez Id: 5915
Gene Symbol: RARB
RARB 		0.100 Biomarker disease HPO
Entrez Id: 51339
Gene Symbol: DACT1
DACT1 		0.100 Biomarker disease HPO
Entrez Id: 26608
Gene Symbol: TBL2
TBL2 		0.100 Biomarker disease HPO
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		0.100 Biomarker disease HPO
Entrez Id: 8942
Gene Symbol: KYNU
KYNU 		0.100 Biomarker disease HPO
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		0.100 Biomarker disease HPO
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2 		0.100 Biomarker disease HPO
Entrez Id: 84100
Gene Symbol: ARL6
ARL6 		0.100 Biomarker disease HPO
Entrez Id: 57539
Gene Symbol: WDR35
WDR35 		0.100 Biomarker disease HPO
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT 		0.100 Biomarker disease HPO
Entrez Id: 57167
Gene Symbol: SALL4
SALL4 		0.100 Biomarker disease HPO
Entrez Id: 55215
Gene Symbol: FANCI
FANCI 		0.100 Biomarker disease HPO
Entrez Id: 4038
Gene Symbol: LRP4
LRP4 		0.100 Biomarker disease HPO