Search results for "[genes] NPC1"

11 hits were found for '[genes] NPC1'

# Family MCID Name MIFTS Score
1
PCK002 Pick Disease 64 26.437
2
P NMN002 Niemann-Pick Disease 63 20.478
3
c NMN015 Niemann-Pick Disease, Type C1 51 18.694
4
TNG002 Tangier Disease 63 16.720
5
MLT135 Multiple Sulfatase Deficiency 57 11.823
6
ACD003 Acid Sphingomyelinase Deficiency 31 11.823
7
P NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 19 8.360
8
c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 18 8.360
9
c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 18 8.360
10
c NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 18 8.360
11
NMN008 Niemann-Pick Disease Type C, Severe Perinatal Form 18 8.360