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 64 26.270
2
P NMN002 Niemann-Pick Disease 63 23.762
3
PCK002 Pick Disease 67 19.401
4
TNG002 Tangier Disease 61 13.719
5
SND007 Sandhoff Disease, Infantile, Juvenile, and Adult Forms 58 13.719
6
SPH010 Sphingolipidosis 45 13.719
7
MLT135 Multiple Sulfatase Deficiency 53 11.201
8
LYM024 Lymphatic System Disease 50 11.201
9
LPD009 Lipid Storage Disease 49 11.201
10
EBL001 Ebola Hemorrhagic Fever 41 11.201
11
NNL001 Non-Langerhans-Cell Histiocytosis 37 11.201
12
ACD003 Acid Sphingomyelinase Deficiency 33 11.201
13
c INH020 Inherited Metabolic Disorder 49 7.921
14
c NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 16 7.921
15
P NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 16 7.921
16
c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 15 7.921
17
c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 15 7.921
18
NMN008 Niemann-Pick Disease Type C, Severe Perinatal Form 15 7.921