|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:ALK1
gptkb:activin_A_receptor_type_II-like_1
|
|
gptkbp:associatedWith
|
gptkb:hereditary_hemorrhagic_telangiectasia_type_2
|
|
gptkbp:encodes
|
gptkb:activin_receptor-like_kinase_1
|
|
gptkbp:Entrez_Gene_ID
|
94
|
|
gptkbp:expressedIn
|
endothelial cells
|
|
gptkbp:function
|
encodes a TGF-beta type I receptor
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:175
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ACVRL1 gene
|
|
gptkbp:involvedIn
|
angiogenesis
vascular development
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_12
12q13
|
|
gptkbp:mutationAssociatedWith
|
gptkb:hereditary_hemorrhagic_telangiectasia
|
|
gptkbp:OMIM
|
601284
|
|
gptkbp:orthologInMouse
|
Acvrl1
|
|
gptkbp:pathway
|
gptkb:TGF-beta_signaling_pathway
|
|
gptkbp:product
|
gptkb:ALK1_protein
|
|
gptkbp:species
|
gptkb:Homo_sapiens
|
|
gptkbp:UniProtID
|
gptkb:P37023
|
|
gptkbp:bfsParent
|
gptkb:HHT
gptkb:hereditary_hemorrhagic_telangiectasia
|
|
gptkbp:bfsLayer
|
6
|