DISEASES

Disease-gene associations mined from literature

Literature associating HAPLN1 and creatine transporter deficiency

HAPLN1 [ENSP00000274341]

Hyaluronan and proteoglycan link protein 1; Stabilizes the aggregates of proteoglycan monomers with hyaluronic acid in the extracellular cartilage matrix; V-set domain containing

Synonyms:  HAPLN1,  HAPLN1p,  hHAPLN1,  A0A024RAK9,  D6RAK7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM