Search results for "[genes] NPC1"

22 hits were found for '[genes] NPC1'

# Family MCID Name MIFTS Score
1
c NMN015 Niemann-Pick Disease, Type C1 63 24.493
2
P NMN002 Niemann-Pick Disease 65 21.907
3
PCK002 Pick Disease 68 18.972
4
TNG002 Tangier Disease 62 15.490
5
SND007 Sandhoff Disease, Infantile, Juvenile, and Adult Forms 57 15.490
6
SPH010 Sphingolipidosis 45 15.490
7
MLT135 Multiple Sulfatase Deficiency 53 13.415
8
P ATX004 Ataxia 53 13.415
9
LYM024 Lymphatic System Disease 52 13.415
10
LPD009 Lipid Storage Disease 49 13.415
11
EBL001 Ebola Hemorrhagic Fever 40 13.415
12
NNL001 Non-Langerhans-Cell Histiocytosis 36 13.415
13
ACD003 Acid Sphingomyelinase Deficiency 33 13.415
14
c NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 17 13.415
15
P NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 17 13.415
16
c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 16 13.415
17
c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 16 13.415
18
NMN008 Niemann-Pick Disease Type C, Severe Perinatal Form 16 13.415
19
c INH020 Inherited Metabolic Disorder 49 10.953
20
NMN003 Niemann–pick Disease 26 10.953
21
HDC001 Headache 54 7.745
22
ATX038 Ataxia and Polyneuropathy, Adult-Onset 21 7.745