Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 341640
Gene Symbol: FREM2
FREM2 		0.400 GermlineCausalMutation disease ORPHANET Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract. 24700879 2014
Entrez Id: 341640
Gene Symbol: FREM2
FREM2 		0.400 GermlineCausalMutation disease ORPHANET Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis. 21900877 2012
Entrez Id: 341640
Gene Symbol: FREM2
FREM2 		0.400 CausalMutation disease CLINVAR
Entrez Id: 80000
Gene Symbol: GREB1L
GREB1L 		0.310 GeneticVariation disease BEFREE We performed whole-exome sequencing (WES) in eight family members leading to the identification of a novel pathogenic (CADD = 33) c.705G>T missense variant in GREB1L, a gene recently identified as a novel cause of RA. 31424080 2019
Entrez Id: 80000
Gene Symbol: GREB1L
GREB1L 		0.310 GermlineCausalMutation disease ORPHANET Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. 29100090 2017
Entrez Id: 80000
Gene Symbol: GREB1L
GREB1L 		0.310 GermlineCausalMutation disease ORPHANET Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice. 29100091 2017
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1 		0.310 GermlineCausalMutation disease ORPHANET Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract. 24700879 2014
Entrez Id: 5979
Gene Symbol: RET
RET 		0.310 GermlineCausalMutation disease ORPHANET Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. 24429398 2014
Entrez Id: 5979
Gene Symbol: RET
RET 		0.310 GeneticVariation disease BEFREE We report a MEN2A family with RET mutation in which two asymptomatic carriers presented with unilateral renal agenesis. 24152999 2014
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1 		0.310 GeneticVariation disease BEFREE Moreover, single heterozygous missense mutations in FRAS1 seem to be responsible for non-syndromic unilateral renal agenesis. 23473829 2013
Entrez Id: 5979
Gene Symbol: RET
RET 		0.310 GermlineCausalMutation disease ORPHANET Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis. 21900877 2012
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1 		0.310 GermlineCausalMutation disease ORPHANET Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis. 21900877 2012
Entrez Id: 158326
Gene Symbol: FREM1
FREM1 		0.300 GermlineCausalMutation disease ORPHANET Clinical implications of the solitary functioning kidney. 24370773 2014
Entrez Id: 25778
Gene Symbol: DSTYK
DSTYK 		0.300 GermlineCausalMutation disease ORPHANET Mutations in DSTYK and dominant urinary tract malformations. 23862974 2013
Entrez Id: 652
Gene Symbol: BMP4
BMP4 		0.300 GermlineCausalMutation disease ORPHANET Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis. 21900877 2012
Entrez Id: 158326
Gene Symbol: FREM1
FREM1 		0.300 GermlineCausalMutation disease ORPHANET Congenital anomalies of kidney and urinary tract. 20807610 2010
Entrez Id: 25778
Gene Symbol: DSTYK
DSTYK 		0.300 GermlineCausalMutation disease ORPHANET Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33. 17273976 2007
Entrez Id: 7380
Gene Symbol: UPK3A
UPK3A 		0.300 GermlineCausalMutation disease ORPHANET De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure. 15888565 2005
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1 		0.140 GeneticVariation disease BEFREE We describe for the first time two cases in which KS was suspected during fetal life because of the family context and malformation detection by fetal ultrasound: syndactyly or unilateral renal agenesis in subjects with respectively FGFR1 and KAL1 mutations. 26051373 2015
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1 		0.140 Biomarker disease BEFREE Mutations in KAL-1 and its encoded protein anosmin-1, causes X-linked Kallmann's syndrome (XKS) characterized by IHH, anosmia, synkinesis, and unilateral renal agenesis. 15571757 2004
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1 		0.140 GeneticVariation disease BEFREE One of the patients with unilateral renal agenesis carried a deletion in KAL, the gene responsible for the X-linked type of KS. 10210557 1999
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1 		0.140 GeneticVariation disease BEFREE The kindred's KAL-1 mutation was not present in three of the males with URA, the female with the ectopic kidney, nor in preserved autopsy tissue from one infant with BRA. 10076881 1999
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1 		0.140 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: 1911
Gene Symbol: PHC1
PHC1 		0.100 Biomarker disease HPO