Search results for "[genes] NPC1"

18 hits were found for '[genes] NPC1'

# Family MCID Name MIFTS Score
1
c NMN015 Niemann-Pick Disease, Type C1 63 26.397
2
P NMN002 Niemann-Pick Disease 66 22.511
3
PCK002 Pick Disease 65 19.495
4
TPT001 Tauopathy 54 15.918
5
TNG002 Tangier Disease 63 13.785
6
SND007 Sandhoff Disease, Infantile, Juvenile, and Adult Forms 56 13.785
7
SPH010 Sphingolipidosis 47 13.785
8
MLT135 Multiple Sulfatase Deficiency 53 11.256
9
LPD009 Lipid Storage Disease 52 11.256
10
LYM024 Lymphatic System Disease 48 11.256
11
NNL001 Non-Langerhans-Cell Histiocytosis 43 11.256
12
ACD003 Acid Sphingomyelinase Deficiency 35 11.256
13
c INH020 Inherited Metabolic Disorder 51 7.959
14
P NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 15 7.959
15
c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 14 7.959
16
c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 14 7.959
17
c NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 14 7.959
18
NMN008 Niemann-Pick Disease Type C, Severe Perinatal Form 14 7.959