Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hydranencephaly with Renal Aplasia-Dysplasia
0.620 Biomarker disease GENOMICS_ENGLAND An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia. 30622327 2019
Hydranencephaly with Renal Aplasia-Dysplasia
0.620 Biomarker disease GENOMICS_ENGLAND An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia. 30622327 2019
Hydranencephaly with Renal Aplasia-Dysplasia
0.620 GeneticVariation disease BEFREE Thus, we propose that the zebrafish cep55 mutant is a model organism for human MARCH syndrome. 31365163 2019
Hydranencephaly with Renal Aplasia-Dysplasia
0.620 CausalMutation disease CLINVAR A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis. 28264986 2017
Hydranencephaly with Renal Aplasia-Dysplasia
0.620 GermlineCausalMutation disease ORPHANET A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis. 28264986 2017
Hydranencephaly with Renal Aplasia-Dysplasia
0.620 Biomarker disease GENOMICS_ENGLAND A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis. 28264986 2017
Hydranencephaly with Renal Aplasia-Dysplasia
0.620 GeneticVariation disease BEFREE A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis. 28264986 2017