Annotation Detail

Information
Associated Genes
ACVRL1
Associated Variants
ACVRL1 MUTATION
ACVRL1 MUTATION
Associated Disease
Congenital chromosomal disease
Source Database
DisGeNET
Description
The three hypotheses were discussed and finally, although p80/ALK1 expression and cytogenetic abnormalities in fibrous histiocytoma (FH) are not yet reported to the best of our knowledge, we favored the diagnosis of AFH.
Pubmed
24666231
Section of the abstract supporting the evidence
ALL_TEXT_3/3
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
8
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs