Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606706
rs267606706
CBL
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		C 0.700 GeneticVariation CLINVAR CBL linker region and RING finger mutations lead to enhanced granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling via elevated levels of JAK2 and LYN. 23696637

2013
dbSNP: rs267606706
rs267606706
CBL
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267606706
rs267606706
CBL
CUI: C4016301
Disease: NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA 		C 0.700 CausalMutation CLINVAR

dbSNP: rs267606706
rs267606706
CBL
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267606706
rs267606706
CBL
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267606706
rs267606706
CBL
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		A 0.700 CausalMutation CLINVAR