Annotation Detail

Information
Associated Genes
TRPS1
Associated Variants
TRPS1 MUTATION
TRPS1 MUTATION
Associated Disease
intellectual disability
Source Database
DisGeNET
Description
Intellectual disability is uncommon in TRPS I and, if present, usually mild.
Pubmed
25792522
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
14
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs