Annotation Detail

Information
Associated Genes
WDHD1
Associated Variants
WDHD1 MUTATION
WDHD1 MUTATION
Associated Disease
Hypochondroplasia (disorder)
Source Database
DisGeNET
Description
Height gain in the treated population was +0.62 ± 0.81 SDS greater than in the general population, and +1.39 ± 0.9 SDS greater than in the historical untreated HCH cohort (mean gain of 7.4 ± 6.6 cm gain).
Pubmed
25323764
Section of the abstract supporting the evidence
RESULTS
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
5
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs