Search results for "[genes] PSAP"

33 hits were found for '[genes] PSAP'

# Family MCID Name MIFTS Score
1
P GCH001 Gaucher's Disease 56 20.866
2
P LKD001 Leukodystrophy 48 20.866
3
GCH014 Gaucher Disease, Atypical 23 20.866
4
P MTC003 Metachromatic Leukodystrophy 67 19.518
5
P TYS001 Tay-Sachs Disease 68 16.496
6
P KRB001 Krabbe Disease 66 16.496
7
KRB004 Krabbe Disease, Atypical 20 16.496
8
P NMN002 Niemann-Pick Disease 58 14.754
9
P GNG009 Gangliosidosis 57 14.754
10
SPH010 Sphingolipidosis 38 14.754
11
MTC067 Metachromatic Leukodystrophy Due to Sap-B Deficiency 18 14.754
12
FBR012 Fabry Disease 67 12.777
13
P NRN021 Neuronal Ceroid Lipofuscinosis 58 12.777
14
c GNG001 Gangliosidosis Gm1 51 12.777
15
NRN005 Neuronal Ceroid-Lipofuscinoses 49 12.777
16
LPD009 Lipid Storage Disease 42 12.777
17
LRN003 Learning Disability 39 12.777
18
GLY031 Glycoproteinosis 29 12.777
19
CMB009 Combined Sap Deficiency 20 12.777
20
c NMN015 Niemann-Pick Disease, Type C1 59 10.433
21
FRB001 Farber Lipogranulomatosis 52 10.433
22
GLN002 Glanders 50 10.433
23
c GCH015 Gaucher Disease, Type I 47 10.433
24
c MCL062 Mucolipidosis Ii Alpha/beta 46 10.433
25
c ADL066 Adult Neuronal Ceroid Lipofuscinosis 44 10.433
26
c GCH017 Gaucher Disease, Type Iii 39 10.433
27
c GCH016 Gaucher Disease, Type Ii 37 10.433
28
INC022 Inclusion-Cell Disease 34 10.433
29
c INF122 Infantile Krabbe Disease 24 7.377
30
c MTC074 Metachromatic Leukodystrophy, Adult Form 18 7.377
31
c MTC076 Metachromatic Leukodystrophy, Juvenile Form 17 7.377
32
c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 16 7.377
33
ENC041 Encephalopathy Due to Prosaposin Deficiency 15 7.377