HUGO ID Detailed Result 7897

PMID	Match String	Actual String	Score	Flanking text	Edited by	Edit
18414597	NPC1	NPC1	0.9	Niemann-Pick disease C is due to mutations in either the NPC1 or NPC2 genes resulting in defective cholesterol transport and cholesterol
18751914	NPC1	NPC1	0.9	Niemann-Pick disease C is due to mutations in either the NPC1 or NPC2 genes resulting in defective cholesterol transport and cholesterol
18414597	niemann-pick disease	niemann pick disease	1.0	niemann pick diseases a and b are due to acidic sphingomyelinase deficiency resulting in sphingomyelin accumulation while niemann pick disease c is due to mutations in either the npc1 or npc2 genes resulting in defective cholesterol transport and cholesterol accumulation.
18751914	niemann-pick disease	niemann pick disease	1.0	niemann pick diseases a and b are due to acidic sphingomyelinase deficiency resulting in sphingomyelin accumulation while niemann pick disease c is due to mutations in either the npc1 or npc2 genes resulting in defective cholesterol transport and cholesterol accumulation.