SAA1, serum amyloid A1, 6288

N. diseases: 188; N. variants: 6
Disease: HERMANSKY-PUDLAK SYNDROME 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3888004
Disease: HERMANSKY-PUDLAK SYNDROME 5
HERMANSKY-PUDLAK SYNDROME 5 		0.010 GeneticVariation disease BEFREE The region at 11p15.5-p13 (rs4150642; p = 3.20×10(-111)) contains serum amyloid A1 (SAA1) and the adjacent general transcription factor 2 H1 (GTF2H1), Hermansky-Pudlak Syndrome 5 (HPS5), lactate dehydrogenase A (LDHA), and lactate dehydrogenase C (LDHC). 21124955 2010