Search results for ASAH1

46 hits were found for ASAH1

# Family MCID Name MIFTS Score
1
FRB001 Farber Lipogranulomatosis 59 8.186
2
SPN252 Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy 45 6.686
3
P SPN046 Spinal Muscular Atrophy 62 4.510
4
P MSC003 Muscular Atrophy 52 4.489
5
P EPL164 Epilepsy 71 4.397
6
LPG001 Lipogranulomatosis 29 4.397
7
KLD003 Keloid Formation 38 2.877
9
P MTC003 Metachromatic Leukodystrophy 70 1.928
10
P KRB001 Krabbe Disease 69 1.928
11
P TYS001 Tay-Sachs Disease 69 1.928
12
SND001 Sandhoff Disease 68 1.928
13
P NMN002 Niemann-Pick Disease 59 1.928
14
AGG002 Aggressive Systemic Mastocytosis 49 1.928
15
SPH010 Sphingolipidosis 47 1.928
16
LPD009 Lipid Storage Disease 46 1.928
17
c GM2006 Gm2 Gangliosidosis 45 1.928
18
c NPH102 Nephrotic Syndrome, Type 14 44 1.928
19
P INT260 Intracranial Berry Aneurysm 39 1.928
20
CRB005 Cerebral Arteritis 26 1.928
21
MLG078 Malignant Pineal Area Germ Cell Neoplasm 22 1.928
22
ERL001 Early Myoclonic Encephalopathy 62 0.193
23
MYC080 Myoclonic Epilepsy of Unverricht and Lundborg 52 0.193
24
BNG009 Benign Epilepsy with Centrotemporal Spikes 58 0.178
25
P FTL069 Fetal Akinesia Deformation Sequence 1 64 0.146
26
P DST002 Distal Arthrogryposis 63 0.146
27
c ART144 Arthrogryposis, Distal, Type 1a 61 0.146
28
P MTR014 Motor Neuron Disease 65 0.126
29
ATS010 Autosomal Recessive Disease 48 0.126
31
P MLN008 Melanoma 69 0.073
32
PRT037 Pertussis 65 0.073
33
BRS099 Breast Ductal Carcinoma 62 0.073
34
HYP066 Hyperglycemia 61 0.073
35
P NPH012 Nephrotic Syndrome 60 0.073
36
P BNG030 Benign Ependymoma 60 0.073
37
STT001 Status Epilepticus 60 0.073
38
CLL010 Cellular Ependymoma 54 0.073
39
P TRM003 Tremor 54 0.073
40
c MLN055 Melanoma, Cutaneous Malignant 10 52 0.073
41
c 46X049 46,xy Sex Reversal 2 48 0.073
42
P MYC033 Myoclonus 46 0.073
43
P HYP265 Hypotonia 43 0.073
44
KLD004 Keloid Disorder 40 0.073
45
PDT014 Pediatric Ependymoma 32 0.073
46
PTR034 Paternal Uniparental Disomy 23 0.073
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