Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.830 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532 2017
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.830 GeneticVariation BEFREE Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation. 28337834 2017
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.830 CausalMutation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266 2013
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.830 GeneticVariation BEFREE Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C. 21438134 2011
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.830 CausalMutation CLINVAR Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C. 21438134 2011
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.830 GeneticVariation BEFREE A premature infant with Costello syndrome due to a rare G13C HRAS mutation. 19213030 2009
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.830 CausalMutation CLINVAR A premature infant with Costello syndrome due to a rare G13C HRAS mutation. 19213030 2009
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.830 CausalMutation CLINVAR An unexpected new role of mutant Ras: perturbation of human embryonic development. 17211612 2008
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.830 CausalMutation CLINVAR Paternal bias in parental origin of HRAS mutations in Costello syndrome. 16835863 2006
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.830 CausalMutation CLINVAR HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. 16329078 2006
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.830 CausalMutation CLINVAR HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. 16372351 2006
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
0.830 GeneticVariation UNIPROT HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. 16329078 2006
Nevus sebaceous
CUI: C3854181
Disease: Nevus sebaceous
0.710 GeneticVariation BEFREE A multigene hotspot mutational profiling of the BRAF, NRAS, HRAS and KRAS genes was carried out, and a shared G13R HRAS mutation in both the trichoblastoma and the sebaceous nevus components was found. 28554764 2018
Nevus sebaceous
CUI: C3854181
Disease: Nevus sebaceous
0.710 GeneticVariation UNIPROT Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. 22683711 2012
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Malignant Uterine Corpus Neoplasm
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Transitional cell carcinoma of bladder
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Squamous cell carcinoma of the head and neck
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Squamous cell carcinoma of skin
CUI: C0553723
Disease: Squamous cell carcinoma of skin
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016