JPH3, junctophilin 3, 57338

N. diseases: 90; N. variants: 4
Disease: Hypobetalipoproteinemias ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		0.010 Biomarker disease BEFREE Neuroacanthocytosis (NA) syndromes are a group of rare diseases characterized by neurological disorders and misshaped spiky red blood cells (acanthocytes) including Chorea-Acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington disease-like 2 (HDL 2), pantothenate kinase-associated neurodegeneration (PKAN), abeta- and hypobetalipoproteinemia and aceruloplasminemia. 29253590 2018