PHF1, PHD finger protein 1, 5252

N. diseases: 32; N. variants: 0
Disease: Epithelioid hemangioendothelioma, malignant ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0334538
Disease: Epithelioid hemangioendothelioma, malignant
Epithelioid hemangioendothelioma, malignant 		0.010 GeneticVariation disease BEFREE Malignant chondroid syringoma is genetically related to tumors with PHF1 rearrangements such as low-grade endometrial sarcoma and ossifying fibromyxoid tumor, but also with tumors having TFE3 rearrangements such as renal cell carcinoma, alveolar soft part sarcoma, PEComa, and epithelioid hemangioendothelioma. 31467228 2020