Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 Biomarker disease HPO
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 AlteredExpression disease BEFREE Mutation of the transcription factor GATA3 in humans causes the highly variable hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome. 23720234 2013
Entrez Id: 2625
Gene Symbol: GATA3
GATA3
0.200 Biomarker disease BEFREE Previously, the combination of hypoparathyroidism, deafness, and renal dysplasia has been proposed to represent a specific syndrome (MIM 146255) under the acronym HDR. 10633131 2000
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 Biomarker disease BEFREE All patients had the classic triad of GATA3 deficiency: hypoparathyroidism, hearing loss, and renal dysplasia. 24622013 2014
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 Biomarker disease BEFREE The GATA3 haploinsufficiency is thought to be associated with the hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome. 25771973 2015
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: 5076
Gene Symbol: PAX2
PAX2
0.110 Biomarker disease HPO
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
0.110 Biomarker disease HPO
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: 5076
Gene Symbol: PAX2
PAX2
0.110 Biomarker disease BEFREE These results suggest that PAX2 is a strong candidate gene for cases in which human patients have optic disc coloboma not associated with renal dysplasia. 20943750 2011
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
0.110 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