Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 174
Gene Symbol: AFP
AFP
0.010 Biomarker disease BEFREE This case illustrates the potential severity of the renal anomalies in the BOR syndrome and the inadequacy of oligohydramnios and maternal serum alpha-fetoprotein as screening methods for renal agenesis. 6846397 1983
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
0.040 Biomarker disease BEFREE A defective anosmin-1 molecule may also play a role in the development of synkinesia and renal agenesis, which are exclusively seen in the X-linked form of KS. 11044805 2000
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
0.040 GeneticVariation disease BEFREE The high frequency of renal agenesis in this family, in the presence and absence of the KAL-1 mutation, suggests an autosomal dominant or X-linked gene which may independently or co-dependently contribute to renal agenesis. 10076881 1999
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
0.040 Biomarker disease BEFREE The phenotype of renal agenesis/dysgenesis strongly indicates the existence of KAL1 gene defects in the genotype of patients with sporadic KS, providing evidence for the X-linked mode of inheritance and offering the opportunity for genetic counseling. 17603054 2007
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
0.040 GeneticVariation disease BEFREE In addition, the high frequency of unilateral renal aplasia in X-linked Kallmann patients (6 out of 11 males with identified alterations of the KAL gene) should be emphasized. 8504298 1993
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.020 GeneticVariation disease BEFREE Neither the azoospermic patients with congenital unilateral aplasia of vas deferens nor those with CBAVD and renal aplasia were found to have CFTR mutations. 22340520 2012
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.020 GeneticVariation disease BEFREE Patients with CBAVD and renal agenesis should be screened for CFTR gene mutations before assisted reproductive techniques are used. 11119745 2000
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
0.100 GeneticVariation disease CLINVAR
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
0.010 GeneticVariation disease BEFREE The results suggest the following: 1) KAL1 mutations might be more prevalent in the Japanese patients than previously estimated in the Caucasian patients and can be associated with apparently normal olfactory function; 2) FGFR1 mutations account for approximately 10% of KS patients, as previously reported in the Caucasian patients, and can result in HH and olfactory dysfunction-only phenotype; and 3) renal aplasia, which is characteristic of KAL1 mutations, and cleft palate and dental agenesis, which are characteristic of FGFR1 mutations, can occur in patients without KAL1 and FGFR1 mutations. 15001591 2004
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
0.020 Biomarker disease BEFREE This prevented renal agenesis in Fras1(bl/bl) mice, permitting kidney development and postnatal survival. 23064016 2012
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
0.020 GeneticVariation disease BEFREE Mutations in genes encoding Fras1, Frem1 and Frem2 are causative for dermal-epidermal detachment in the plane of sublamina densa and have been identified in different classes of mouse bleb mutants, the murine model of human Fraser syndrome, the hallmark phenotypic characteristics of which are embryonic skin blistering, cryptophthalmos and renal agenesis. 21182980 2011
Entrez Id: 158326
Gene Symbol: FREM1
FREM1
0.010 Biomarker disease BEFREE Mutations in genes encoding Fras1, Frem1 and Frem2 are causative for dermal-epidermal detachment in the plane of sublamina densa and have been identified in different classes of mouse bleb mutants, the murine model of human Fraser syndrome, the hallmark phenotypic characteristics of which are embryonic skin blistering, cryptophthalmos and renal agenesis. 21182980 2011
Entrez Id: 341640
Gene Symbol: FREM2
FREM2
0.010 Biomarker disease BEFREE Mutations in genes encoding Fras1, Frem1 and Frem2 are causative for dermal-epidermal detachment in the plane of sublamina densa and have been identified in different classes of mouse bleb mutants, the murine model of human Fraser syndrome, the hallmark phenotypic characteristics of which are embryonic skin blistering, cryptophthalmos and renal agenesis. 21182980 2011
Entrez Id: 2668
Gene Symbol: GDNF
GDNF
0.010 Biomarker disease BEFREE These results suggest that genomic alteration of RET or GDNF is not a major mechanism leading to renal agenesis and other severe kidney development defects. 21490379 2011
Entrez Id: 348654
Gene Symbol: GEN1
GEN1
0.010 GeneticVariation disease BEFREE In this study, we report that disruption of the Holliday Junction resolvase gene <i>Gen1</i> leads to renal agenesis, duplex kidney, hydronephrosis, and vesicoureteral reflux (VUR) in mice. 29483821 2018
Entrez Id: 2678
Gene Symbol: GGT1
GGT1
0.010 AlteredExpression disease BEFREE It has a large spectrum of clinical manifestations, but association with high GGT levels and absent kidney is quite rare. 30093463 2018
Entrez Id: 728441
Gene Symbol: GGT2
GGT2
0.010 AlteredExpression disease BEFREE It has a large spectrum of clinical manifestations, but association with high GGT levels and absent kidney is quite rare. 30093463 2018
Entrez Id: 728226
Gene Symbol: GGTLC3
GGTLC3
0.010 AlteredExpression disease BEFREE It has a large spectrum of clinical manifestations, but association with high GGT levels and absent kidney is quite rare. 30093463 2018
Entrez Id: 729838
Gene Symbol: GGTLC4P
GGTLC4P
0.010 AlteredExpression disease BEFREE It has a large spectrum of clinical manifestations, but association with high GGT levels and absent kidney is quite rare. 30093463 2018
Entrez Id: 653590
Gene Symbol: GGTLC5P
GGTLC5P
0.010 AlteredExpression disease BEFREE It has a large spectrum of clinical manifestations, but association with high GGT levels and absent kidney is quite rare. 30093463 2018
Entrez Id: 80000
Gene Symbol: GREB1L
GREB1L
0.020 GeneticVariation disease BEFREE Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A case report. 31424080 2019
Entrez Id: 80000
Gene Symbol: GREB1L
GREB1L
0.020 GeneticVariation disease BEFREE Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis. 29261186 2018
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
0.010 GeneticVariation disease BEFREE We searched for mutations in HNF1Β and PAX2 in North American children with renal aplasia and hypodysplasia (RHD) enrolled in the Chronic Kidney Disease in Children Cohort Study (CKiD). 21380624 2011
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
0.010 GeneticVariation disease BEFREE Mutations in the HNF1B (MODY 5) is associated with pancreatic agenesis, renal abnormalities, genital tract malformations, and liver dysfunction. 25581748 2015
Entrez Id: 3237
Gene Symbol: HOXD11
HOXD11
0.010 GeneticVariation disease BEFREE Hoxa11/Hoxd11 double mutant mice demonstrate renal agenesis or hypoplasia. 19255789 2009