Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
0.200 GeneticVariation disease BEFREE A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome. 26514990 2015
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
0.200 GeneticVariation disease BEFREE Haploinsufficiency of the Gata3 gene, which encodes a zinc-finger transcription factor, is associated with the disorder hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome in humans. 25917456 2015
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
0.200 GeneticVariation disease BEFREE A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome. 26777049 2015
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
0.200 GeneticVariation disease BEFREE Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is a rare autosomal dominant disorder, secondary to mutations in the GATA-3 gene. 27387476 2017
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
0.200 GeneticVariation disease BEFREE We report on GATA3 analysis and the phenotypic spectrum in nine Japanese families with the HDR syndrome (hypoparathyroidism, sensorineural deafness, and renal dysplasia) (MIM 146255). 11389161 2001
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
0.200 GeneticVariation 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: 2625
Gene Symbol: GATA3
GATA3
0.200 GeneticVariation disease BEFREE GATA3 mutation in a family with hypoparathyroidism, deafness and renal dysplasia syndrome. 25124981 2014
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
0.200 GeneticVariation disease BEFREE A novel GATA3 nonsense mutation in a newly diagnosed adult patient of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. 23186964 2013
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
0.200 GeneticVariation disease BEFREE Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome. 15705923 2005
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
0.200 GeneticVariation disease BEFREE Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. 14985365 2004
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
0.110 GeneticVariation disease BEFREE Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene. 10654325 2000
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: 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: 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: 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: 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: 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: 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: 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: 2625
Gene Symbol: GATA3
GATA3
0.200 Biomarker disease HPO