PTHLH, parathyroid hormone like hormone, 5744

N. diseases: 321; N. variants: 5
Disease: Henoch-Schoenlein Purpura ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.030 GeneticVariation disease BEFREE The absence of identified mutations in the PLP gene in families with both complicated and pure HSP, linked to the SPG2 locus, suggests the existence of another gene in close proximity. 12210342 2002
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.030 Biomarker disease BEFREE The genes that encode L1 and PLP were the first to be identified in HSP disorders. 11470961 2001
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.030 GeneticVariation disease BEFREE There was no evidence of mutations in either coding sequences or the intron/exon junctions of PLP in pedigree K101, suggesting that the disease-producing mutation may be in the noncoding portions of PLP or in a nearby gene. 8780101 1996