HRAS, HRas proto-oncogene, GTPase, 3265

N. diseases: 698; N. variants: 29
Disease: Phacomatosis pigmentokeratotica ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931658
Disease: Phacomatosis pigmentokeratotica
Phacomatosis pigmentokeratotica 		0.540 GeneticVariation disease BEFREE To our knowledge this is the first described case of PPK in which the existence of an HRAS mosaic mutation is the confirmed cause of rhabdomyosarcoma. 29430633 2018
CUI: C2931658
Disease: Phacomatosis pigmentokeratotica
Phacomatosis pigmentokeratotica 		0.540 GeneticVariation disease BEFREE This case expands our knowledge of the genetic basis for phacomatosis, in which mutations in HRAS have been previously described, although this report provides evidence that activating mutations in KRAS or HRAS may cause PPK. 28523882 2017
CUI: C2931658
Disease: Phacomatosis pigmentokeratotica
Phacomatosis pigmentokeratotica 		0.540 GeneticVariation disease BEFREE Combined melanocytic and sweat gland neoplasm: cell subsets harbor an identical HRAS mutation in phacomatosis pigmentokeratotica. 24628623 2014
CUI: C2931658
Disease: Phacomatosis pigmentokeratotica
Phacomatosis pigmentokeratotica 		0.540 Biomarker disease GENOMICS_ENGLAND Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. 24006476 2014
CUI: C2931658
Disease: Phacomatosis pigmentokeratotica
Phacomatosis pigmentokeratotica 		0.540 GeneticVariation disease BEFREE Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell. 23337891 2013
CUI: C2931658
Disease: Phacomatosis pigmentokeratotica
Phacomatosis pigmentokeratotica 		0.540 SomaticCausalMutation disease ORPHANET Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell. 23337891 2013
CUI: C2931658
Disease: Phacomatosis pigmentokeratotica
Phacomatosis pigmentokeratotica 		0.540 Biomarker disease GENOMICS_ENGLAND Germline mutations in HRAS proto-oncogene cause Costello syndrome. 16170316 2005
CUI: C2931658
Disease: Phacomatosis pigmentokeratotica
Phacomatosis pigmentokeratotica 		0.540 Biomarker disease GENOMICS_ENGLAND