Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 83706
Gene Symbol: FERMT3
FERMT3
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.020 GeneticVariation BEFREE We report on novel variants in two unrelated pediatric patients with severe bleeding diathesis-one with leukocyte adhesion deficiency type III due to a homozygous frameshift in FERMT3 and the other with homozygous variants in both, FERMT3 and RASGRP2. 31724816

2020
Entrez Id: 83706
Gene Symbol: FERMT3
FERMT3
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.020 AlteredExpression BEFREE In Leukocyte Adhesion Deficiency Type 3, the loss of the kindlin-3 prevents the activation of Leukocyte Function-associated Antigen-1 (LFA-1), which leads to a defect in adhesion, causing recurrent infections and bleeding disorders. 31329860

2019