Search results for gba

116 hits were found for gba

# Family MCID Name MIFTS Score
1
c GCH015 Gaucher Disease, Type I 70 19.468
2
c GCH013 Gaucher Disease, Type Iiic 34 8.679
3
P GCH001 Gaucher's Disease 63 5.495
4
c GCH016 Gaucher Disease, Type Ii 53 5.363
5
c GCH017 Gaucher Disease, Type Iii 51 5.363
6
P PRK057 Parkinson Disease, Late-Onset 78 5.333
7
GCH018 Gaucher Disease, Perinatal Lethal 41 5.100
8
DMN031 Dementia, Lewy Body 65 4.350
9
P DMN002 Dementia 66 3.878
10
P TRM003 Tremor 54 3.184
11
LYS002 Lysosomal Storage Disease 52 3.127
12
P RRP019 Rare Parkinsonian Disorder 10 2.773
13
P ICH004 Ichthyosis 54 2.683
14
P THR014 Thrombocytopenia 67 2.656
15
P MVM001 Movement Disease 63 2.328
16
c ERL056 Early-Onset Parkinson's Disease 39 2.264
17
c HYP595 Hypertension, Essential 84 2.211
18
FBR012 Fabry Disease 72 2.211
19
c FML035 Familial Hyperlipidemia 55 2.211
20
SPL018 Splenomegaly 48 2.211
21
SPH010 Sphingolipidosis 47 2.211
22
c RRM016 Rare Movement Disorder 22 2.211
23
ERL001 Early Myoclonic Encephalopathy 62 2.180
24
c ESS001 Essential Tremor 56 2.180
25
c HMC039 Hemochromatosis, Type 1 74 2.143
26
P OST002 Osteoporosis 74 2.143
27
SCH036 Scheie Syndrome 72 2.143
28
P KRB001 Krabbe Disease 69 2.143
29
NTH001 Netherton Syndrome 60 2.143
30
P SCL018 Scoliosis 60 2.143
31
P BND020 Bone Disease 59 2.143
32
P NMN002 Niemann-Pick Disease 59 2.143
33
MTH009 Mouth Disease 56 2.143
34
ICH001 Ichthyosis Vulgaris 55 2.143
35
PNC001 Pancytopenia 54 2.143
36
P HMR003 Hemorrhagic Disease 53 2.143
37
HND002 Hand, Foot and Mouth Disease 51 2.143
38
ADN001 Adenosine Deaminase Deficiency 47 2.143
39
RMS001 Rem Sleep Behavior Disorder 46 1.729
40
P SPR120 Supranuclear Palsy, Progressive, 1 68 1.601
41
HYD038 Hydrops Fetalis, Nonimmune 62 1.601
42
c HRD173 Hereditary Late-Onset Parkinson Disease 44 1.601
43
P MCP040 Mucopolysaccharidosis-Plus Syndrome 69 1.564
44
CRT033 Corticobasal Degeneration 57 1.564
45
P DYS021 Dysautonomia 39 1.564
46
LYM143 Lymphoma, Non-Hodgkin, Familial 72 1.515
47
P TYS001 Tay-Sachs Disease 69 1.515
48
ANM044 Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities 67 1.515
49
LYM129 Lymphoma, Mucosa-Associated Lymphoid Type 64 1.515
50
c PRK085 Parkinson Disease 1, Autosomal Dominant 47 1.515
51
c INH020 Inherited Metabolic Disorder 47 1.515
52
LPD009 Lipid Storage Disease 46 1.515
53
SNG007 Sengers Syndrome 46 1.515
54
c GM2006 Gm2 Gangliosidosis 45 1.515
55
P PRM293 Primary Mediastinal B-Cell Lymphoma 43 1.515
56
c ICH040 Ichthyosis, Congenital, Autosomal Recessive 4a 42 1.515
57
c NPH042 Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 32 1.515
58
RLP008 Relapsed/refractory Diffuse Large B-Cell Lymphoma 31 1.515
59
IMM039 Immune Hydrops Fetalis 30 1.515
60
LYS029 Lysosomal Disease 28 1.515
61
c PRG140 Progressive Myoclonus Epilepsy 4 28 1.515
62
CNT010 Central Nervous System Hematologic Cancer 26 1.515
63
HYD004 Hydrops of Gallbladder 24 1.515
64
CHT005 Chitotriosidase Deficiency 23 1.515
65
MLT157 Multiple System Atrophy 1 70 0.143
66
ATS010 Autosomal Recessive Disease 48 0.130
67
LRR002 Lrrk2 Parkinson Disease 19 0.117
68
P ALZ034 Alzheimer Disease 88 0.101
69
KHL003 Kohlschutter-Tonz Syndrome 65 0.101
70
ATN005 Autonomic Dysfunction 46 0.101
71
DPR016 Depression 63 0.083
72
MNT002 Mental Depression 58 0.083
73
CNS004 Constipation 58 0.083
74
47X002 47,xyy 49 0.083
75
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.083
76
RPD005 Rapidly Involuting Congenital Hemangioma 38 0.083
77
P LNG032 Lung Cancer 98 0.058
78
P ATX030 Ataxia-Telangiectasia 82 0.058
79
GLB015 Glioblastoma Multiforme 75 0.058
80
P NRB001 Neuroblastoma 72 0.058
81
P EPL164 Epilepsy 71 0.058
82
c GLY008 Glycogen Storage Disease Ii 70 0.058
83
P MJR001 Major Depressive Disorder 68 0.058
84
P FRN006 Frontotemporal Dementia 68 0.058
85
PSY004 Psychotic Disorder 67 0.058
86
c SML038 Small Cell Cancer of the Lung 65 0.058
87
KRN002 Kearns-Sayre Syndrome 63 0.058
88
P END044 Endometriosis 63 0.058
89
P HYP750 Hypertriglyceridemia, Familial 62 0.058
91
KFR001 Kufor-Rakeb Syndrome 60 0.058
92
SQM006 Squamous Cell Carcinoma 60 0.058
93
c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 59 0.058
94
P SLP005 Sleep Disorder 59 0.058
95
PRT058 Pure Autonomic Failure 59 0.058
96
PYR041 Pyruvate Kinase Deficiency of Red Cells 57 0.058
97
APH002 Aphasia 57 0.058
98
P SZR006 Seizure Disorder 56 0.058
99
P DYS193 Dystonia 11, Myoclonic 55 0.058
101
P RST001 Restless Legs Syndrome 54 0.058
102
P INF037 Inflammatory Bowel Disease 54 0.058
103
TLN003 Telangiectasis 52 0.058
104
RFR010 Refractory Anemia 48 0.058
105
SXL003 Sexual Disorder 47 0.058
106
HLX001 Helix Syndrome 47 0.058
107
c CHR095 Chronic Progressive External Ophthalmoplegia 46 0.058
108
P MYC033 Myoclonus 46 0.058
109
HDN002 Head Injury 46 0.058
110
c PRK093 Parkinson Disease 8, Autosomal Dominant 44 0.058
111
ORL015 Oral Squamous Cell Carcinoma 43 0.058
112
48X005 48,xyyy 39 0.058
113
P CRB088 Cerebral Atrophy 37 0.058
114
c RST012 Restless Legs Syndrome 1 34 0.058
115
PRG116 Progressive Supranuclear Palsy-Corticobasal Syndrome 24 0.058
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