Search results for "[genes] PSAP"

34 hits were found for '[genes] PSAP'

# Family MCID Name MIFTS Score
1
P MTC003 Metachromatic Leukodystrophy 72 23.223
2
P GCH001 Gaucher's Disease 64 23.223
3
P LKD001 Leukodystrophy 45 22.032
4
GCH014 Gaucher Disease, Atypical 22 20.772
5
P TYS001 Tay-Sachs Disease 70 17.989
6
P KRB001 Krabbe Disease 68 17.989
7
SPH010 Sphingolipidosis 37 17.989
8
LPD009 Lipid Storage Disease 43 16.421
9
P GNG009 Gangliosidosis 43 16.421
10
KRB004 Krabbe Disease, Atypical 21 16.421
11
FBR012 Fabry Disease 75 14.688
12
P NMN002 Niemann-Pick Disease 59 14.688
13
MTC067 Metachromatic Leukodystrophy Due to Sap-B Deficiency 21 14.688
14
P NRN021 Neuronal Ceroid Lipofuscinosis 54 12.720
15
c GNG001 Gangliosidosis Gm1 47 12.720
16
LRN003 Learning Disability 47 12.720
17
P MCL001 Mucolipidosis 46 12.720
18
CRB033 Cerebral Degeneration 36 12.720
19
ENC041 Encephalopathy Due to Prosaposin Deficiency 22 12.720
20
c FNC027 Fanconi Anemia, Complementation Group a 71 10.386
21
c NMN015 Niemann-Pick Disease, Type C1 63 10.386
22
c GCH015 Gaucher Disease, Type I 56 10.386
23
c MCL062 Mucolipidosis Ii Alpha/beta 55 10.386
24
FRB001 Farber Lipogranulomatosis 53 10.386
25
GLN002 Glanders 44 10.386
26
c ADL066 Adult Neuronal Ceroid Lipofuscinosis 44 10.386
27
c GCH017 Gaucher Disease, Type Iii 43 10.386
28
c GCH016 Gaucher Disease, Type Ii 41 10.386
29
c GNG010 Gangliosidosis Gm2 28 10.386
30
CMB009 Combined Sap Deficiency 18 10.386
31
c INF122 Infantile Krabbe Disease 22 7.344
32
c MTC074 Metachromatic Leukodystrophy, Adult Form 19 7.344
33
c MTC076 Metachromatic Leukodystrophy, Juvenile Form 18 7.344
34
c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 18 7.344