Search results for "[genes] NPC1"

19 hits were found for '[genes] NPC1'

# Family MCID Name MIFTS Score
1
c NMN015 Niemann-Pick Disease, Type C1 63 26.213
2
P NMN002 Niemann-Pick Disease 59 24.993
3
PCK002 Pick Disease 61 19.360
4
SPH010 Sphingolipidosis 37 17.673
5
P HST010 Histiocytosis 51 15.807
6
LYS002 Lysosomal Storage Disease 46 15.807
7
LPD009 Lipid Storage Disease 43 15.807
8
TPT001 Tauopathy 42 15.807
9
LYM024 Lymphatic System Disease 36 15.807
10
NNL001 Non-Langerhans-Cell Histiocytosis 32 15.807
11
TNG002 Tangier Disease 60 13.689
12
SND007 Sandhoff Disease, Infantile, Juvenile, and Adult Forms 56 13.689
13
MLT135 Multiple Sulfatase Deficiency 55 11.177
14
ACD003 Acid Sphingomyelinase Deficiency 29 11.177
15
P NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 16 7.903
16
c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 15 7.903
17
c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 15 7.903
18
c NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 15 7.903
19
NMN008 Niemann-Pick Disease Type C, Severe Perinatal Form 15 7.903