Search results for PSAP

264 hits were found for PSAP

# Family MCID Name MIFTS Score
1
P MTC003 Metachromatic Leukodystrophy 71 50.274
2
MTC019 Metachromatic Leukodystrophy Due to Saposin B Deficiency 32 45.094
3
GCH010 Gaucher Disease, Atypical, Due to Saposin C Deficiency 33 42.994
4
CMB020 Combined Saposin Deficiency 47 42.932
5
P KRB001 Krabbe Disease 69 37.004
6
KRB005 Krabbe Disease, Atypical, Due to Saposin a Deficiency 27 34.925
7
P GCH001 Gaucher's Disease 69 33.355
8
P LKD001 Leukodystrophy 58 19.949
9
P PRS040 Prostate Cancer 95 16.160
10
c HRD173 Hereditary Late-Onset Parkinson Disease 50 15.642
11
SPH010 Sphingolipidosis 47 12.532
12
P TYS001 Tay-Sachs Disease 69 11.429
13
FBR012 Fabry Disease 71 11.429
14
c GM2006 Gm2 Gangliosidosis 46 11.429
15
P NMN002 Niemann-Pick Disease 60 11.429
16
c GCH015 Gaucher Disease, Type I 67 10.455
17
LYS002 Lysosomal Storage Disease 51 9.935
18
P NRN021 Neuronal Ceroid Lipofuscinosis 64 9.758
19
LPD009 Lipid Storage Disease 45 9.601
20
P GNG009 Gangliosidosis 44 9.565
21
NRN005 Neuronal Ceroid-Lipofuscinoses 61 9.522
22
c FNC027 Fanconi Anemia, Complementation Group a 80 9.331
23
c GCH016 Gaucher Disease, Type Ii 53 9.331
24
c GCH017 Gaucher Disease, Type Iii 52 9.331
25
c NMN015 Niemann-Pick Disease, Type C1 68 9.331
26
c MCL062 Mucolipidosis Ii Alpha/beta 69 9.331
27
P RTN008 Retinitis Pigmentosa 79 9.331
28
c GM1007 Gm1 Gangliosidosis 65 9.331
29
GLY031 Glycoproteinosis 49 9.331
30
LRN003 Learning Disability 49 9.331
31
P USH001 Usher Syndrome 63 7.855
32
c INF122 Infantile Krabbe Disease 32 7.775
33
RTN187 Retinitis Pigmentosa-Deafness Syndrome 48 7.625
34
c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 24 7.541
35
c MTC076 Metachromatic Leukodystrophy, Juvenile Form 29 7.541
36
c MTC074 Metachromatic Leukodystrophy, Adult Form 23 7.541
37
c DFN141 Deafness, Autosomal Recessive 12 46 7.324
38
c NMN014 Niemann-Pick Disease, Type C2 49 6.868
39
P LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 57 6.733
40
c ATS204 Autosomal Recessive Non-Syndromic Intellectual Disability 47 6.598
41
GLC012 Galactosialidosis 55 6.598
42
c GM1004 Gm1-Gangliosidosis, Type I 59 6.598
43
SND001 Sandhoff Disease 66 6.598
44
c GM2005 Gm2-Gangliosidosis, Ab Variant 53 6.598
45
P XRD029 Xeroderma Pigmentosum, Complementation Group a 55 6.598
46
ASP002 Aspartylglucosaminuria 57 6.598
47
c NMN013 Niemann-Pick Disease, Type a 63 6.598
48
c CRD182 Ceroid Lipofuscinosis, Neuronal, 10 50 6.598
49
FRB001 Farber Lipogranulomatosis 57 6.598
50
P MCL001 Mucolipidosis 49 6.598
51
PST106 Post-Cardiac Arrest Syndrome 31 6.598
52
c BCT005 Bacterial Gastritis 21 6.598
53
c PRG140 Progressive Myoclonus Epilepsy 4 25 6.598
54
c ADL066 Adult Neuronal Ceroid Lipofuscinosis 47 6.598
55
STM007 Stomatitis 52 2.260
56
c HPT007 Hepatitis E 50 1.832
57
HMN044 Human Immunodeficiency Virus Type 1 76 1.794
58
P ADN016 Adenocarcinoma 63 1.474
59
PRS047 Prostatitis 57 1.391
60
SCH060 Schistosoma Mansoni Infection, Susceptibility/ 38 1.278
61
SCH014 Schistosomiasis 56 1.278
62
P BCL017 B-Cell Lymphoma 57 1.240
63
ISC004 Ischemia 61 1.043
64
NRN004 Neuroendocrine Tumor 55 0.964
65
CRB004 Cerebral Artery Occlusion 45 0.964
66
c PCH010 Pachyonychia Congenita 3 43 0.905
67
AGN016 Aging 53 0.898
68
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.842
69
P BRS047 Breast Cancer 97 0.784
70
DMY004 Demyelinating Disease 50 0.773
71
c USH036 Usher Syndrome, Type I 60 0.726
72
c USH040 Usher Syndrome, Type Id 47 0.726
73
ATS252 Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb 42 0.726
74
P CRD119 Cardiac Arrest 68 0.572
75
SPP011 Suppression of Tumorigenicity 12 61 0.572
76
P SNS001 Sensorineural Hearing Loss 60 0.556
77
P GST053 Gastric Cancer 82 0.551
78
P PNC035 Pancreatic Cancer 87 0.551
79
SZR001 Sezary's Disease 60 0.551
80
GLM045 Glioma 62 0.539
81
GLL048 Glial Tumor 51 0.539
82
FRN006 Frontotemporal Dementia 68 0.522
83
P PRS038 Personality Disorder 65 0.522
84
PRS129 Prostatic Hyperplasia, Benign 48 0.467
85
ADN018 Adenoma 58 0.467
86
PRS021 Prostatic Adenoma 43 0.467
87
PRS045 Prostatic Hypertrophy 53 0.467
88
ANX010 Anxiety 70 0.426
89
PLM129 Pulmonary Disease, Chronic Obstructive 74 0.426
90
IMM167 Immune Deficiency Disease 76 0.426
91
P PHC003 Pheochromocytoma 70 0.426
92
ADR040 Adrenal Gland Pheochromocytoma 45 0.426
93
P PLM037 Pulmonary Hypertension 69 0.405
94
LNG099 Lung Disease 62 0.405
95
c AMY091 Amyotrophic Lateral Sclerosis 1 87 0.381
96
GLB002 Glioblastoma 67 0.381
97
P LTR001 Lateral Sclerosis 57 0.381
98
P PNC044 Pancreatitis 61 0.381
99
c ACT027 Acute Pancreatitis 60 0.381
100
SGN002 Signet Ring Cell Adenocarcinoma 46 0.381
101
P CHR345 Chronic Pain 50 0.381
102
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 0.357
103
STR067 Stroke, Ischemic 79 0.357
104
P HPT021 Hepatitis 68 0.357
105
INF021 Infant Gynecomastia 30 0.357
106
P SBS003 Substance Abuse 54 0.357
107
GYN001 Gynecomastia 48 0.357
108
P THR014 Thrombocytopenia 66 0.357
109
DPR016 Depression 64 0.357
110
P OVR042 Ovarian Cancer 88 0.330
111
IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 66 0.330
112
THY111 Thyroid Carcinoma, Familial Medullary 67 0.330
113
THY125 Thyroid Gland Medullary Carcinoma 48 0.330
114
PLM014 Pleomorphic Adenoma 51 0.330
115
MCP006 Mucoepidermoid Carcinoma 48 0.330
116
BRD004 Borderline Personality Disorder 53 0.330
117
CND002 Conduct Disorder 50 0.330
118
BLD039 Bladder Adenocarcinoma 32 0.330
119
NPH001 Nephrogenic Adenoma 30 0.330
120
c PSD023 Pseudo-Gaucher Disease 10 0.330
121
THY029 Thyroid Carcinoma 55 0.330
122
FML037 Female Breast Cancer 51 0.302
123
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.302
124
P HPT023 Hepatocellular Carcinoma 95 0.302
125
MLD018 Mild Cognitive Impairment 48 0.302
126
P FBR017 Fibrosarcoma 55 0.302
127
INT025 Intermittent Explosive Disorder 39 0.302
128
GRN059 Grn Frontotemporal Dementia 16 0.302
129
P RRT020 Rare Tumor 39 0.302
130
SPL018 Splenomegaly 47 0.302
131
PRT251 Proteinuria, Chronic Benign 58 0.270
132
P SLP006 Sleep Apnea 69 0.270
133
ATH013 Atherosclerosis Susceptibility 63 0.270
134
c PLM164 Pulmonary Hypertension, Primary, 1 75 0.270
135
P SML001 Small Cell Carcinoma 52 0.270
136
PRT019 Protein-Losing Enteropathy 44 0.270
137
BLD130 Bladder Exstrophy 44 0.270
138
c VRL010 Viral Hepatitis 52 0.270
139
MCN001 Mucinous Adenocarcinoma 49 0.270
140
APP009 Appendix Adenocarcinoma 47 0.270
141
CRV024 Cervical Adenoid Basal Carcinoma 18 0.270
142
P LPS004 Lupus Erythematosus 61 0.270
143
ADN062 Adenoid Basal Carcinoma of the Cervix Uteri 11 0.270
144
P MYC033 Myoclonus 46 0.270
145
VLL006 Villous Adenoma 40 0.234
146
P MCP040 Mucopolysaccharidosis-Plus Syndrome 70 0.234
147
RBS001 Rabies 57 0.234
148
P PRK039 Parkinsonism 55 0.234
149
ANT011 Antisocial Personality Disorder 47 0.234
150
TRN018 Transitional Cell Carcinoma 56 0.234
151
HMS001 Hemosiderosis 48 0.234
152
P MLN007 Male Infertility 56 0.234
153
CNS004 Constipation 56 0.234
154
ADN012 Adenocarcinoma in Situ 41 0.234
155
P PLM036 Pulmonary Fibrosis 65 0.234
156
BLD131 Bladder Urothelial Carcinoma 59 0.234
157
PRM013 Premature Menopause 57 0.234
158
TXC005 Toxic Shock Syndrome 61 0.234
159
AZS001 Azoospermia 45 0.234
160
P INF032 Infertility 60 0.234
161
FSC004 Fasciitis 49 0.234
162
PRT036 Peritonitis 65 0.234
163
48X005 48,xyyy 39 0.234
164
NCR007 Necrotizing Fasciitis 48 0.234
165
P RRH023 Rare Hereditary Hemochromatosis 52 0.234
166
P ALZ034 Alzheimer Disease 87 0.191
167
c SCL052 Scleroderma, Familial Progressive 60 0.191
168
INT319 Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked 40 0.191
169
P PRK057 Parkinson Disease, Late-Onset 79 0.191
170
P ATT013 Attention Deficit-Hyperactivity Disorder 65 0.191
171
DPH001 Diphtheria 59 0.191
172
P CYS018 Cystitis 58 0.191
173
BRS099 Breast Ductal Carcinoma 61 0.191
174
BRN014 Bronchopneumonia 52 0.191
175
GLN006 Glandular Cystitis 29 0.191
176
PLM022 Pulmonary Valve Insufficiency 45 0.191
177
P EPL164 Epilepsy 70 0.191
178
HST001 Histrionic Personality Disorder 27 0.191
179
P URT039 Urticaria 57 0.191
180
CMM004 Common Variable Immunodeficiency 71 0.191
181
P BRN022 Bronchiectasis 59 0.191
182
P HYP098 Hypereosinophilic Syndrome 66 0.191
183
CYS003 Cystitis Cystica 28 0.191
184
URC003 Urachal Adenocarcinoma 31 0.191
185
URT040 Urethral Cancer 20 0.191
187
DST006 Diastolic Heart Failure 45 0.191
188
LYS029 Lysosomal Disease 30 0.191
189
CRB086 Cerebral Aneurysms 40 0.191
190
P HYP265 Hypotonia 42 0.191
191
DFC004 Deficiency Anemia 74 0.135
192
ALV005 Alveolar Soft Part Sarcoma 61 0.135
193
P SCH015 Schizophrenia 74 0.135
194
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 58 0.135
195
PLY150 Polykaryocytosis Inducer 29 0.135
196
P CRC039 Coarctation of Aorta 46 0.135
197
c DYS191 Dystonia 1, Torsion, Autosomal Dominant 47 0.135
198
SMT008 Smith-Magenis Syndrome 53 0.135
199
ALC007 Alcohol Dependence 65 0.135
200
c LKM061 Leukemia, Acute Myeloid 83 0.135
201
P PTN014 Patent Ductus Arteriosus 1 59 0.135
202
c GLC114 Glaucoma, Primary Closed-Angle 36 0.135
203
CNZ001 Coenzyme Q10 Deficiency Disease 41 0.135
204
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 58 0.135
205
MNN043 Meningioma, Familial 79 0.135
206
P HNT016 Huntington Disease 73 0.135
207
c CHR647 Charcot-Marie-Tooth Disease, Demyelinating, Type 1c 46 0.135
208
END057 Endometrial Cancer 76 0.135
209
TTH002 Tooth Agenesis 61 0.135
210
P SLM003 Salmonellosis 54 0.135
211
OST017 Osteomyelitis 63 0.135
212
QLT008 Qualitative or Quantitative Defects of Dysferlin 30 0.135
213
RPD005 Rapidly Involuting Congenital Hemangioma 48 0.135
214
SLC006 Silicosis 55 0.135
215
TTH006 Tooth Disease 51 0.135
216
P VNT002 Ventricular Septal Defect 58 0.135
217
P LKM002 Leukemia 65 0.135
218
P CYS017 Cystic Teratoma 41 0.135
219
c BSL007 Basal Cell Carcinoma 67 0.135
220
PPL022 Papilloma 53 0.135
221
P VSC007 Vascular Disease 62 0.135
222
HRT011 Heart Septal Defect 49 0.135
223
LYM002 Lymphoplasmacyte-Rich Meningioma 35 0.135
224
THY020 Thyroid Hyalinizing Trabecular Adenoma 19 0.135
225
P DYS154 Dystonia 64 0.135
226
IRN002 Iron Metabolism Disease 56 0.135
227
IRN001 Iron Deficiency Anemia 58 0.135
228
SQM002 Squamous Cell Papilloma 45 0.135
229
P END044 Endometriosis 62 0.135
230
SCR001 Secretory Meningioma 40 0.135
231
ADN009 Adenosquamous Carcinoma 49 0.135
232
EBL001 Ebola Hemorrhagic Fever 55 0.135
233
SPN035 Spindle Cell Sarcoma 51 0.135
234
INV006 Inverted Papilloma 49 0.135
235
P TRT010 Teratoma 50 0.135
236
P SKN015 Skin Carcinoma 71 0.135
237
HYP066 Hyperglycemia 60 0.135
238
P CHR071 Charcot-Marie-Tooth Disease 64 0.135
239
P HYD006 Hydrocephalus 62 0.135
240
SCL003 Social Phobia 48 0.135
241
INT395 Intracranial Meningioma 47 0.135
242
GNR004 Generalized Anxiety Disorder 54 0.135
243
GNG011 Gingival Disease 53 0.135
244
SRC014 Sarcoma 64 0.135
245
NRN001 Neuroendocrine Carcinoma 47 0.135
246
LYM006 Lymphoepithelioma-Like Carcinoma 39 0.135
247
P PNC025 Panic Disorder 52 0.135
248
MMM001 Mammary Paget's Disease 53 0.135
249
CLR003 Clear Cell Adenocarcinoma 49 0.135
250
NPH008 Nephrogenic Adenoma of the Urethra 25 0.135
251
P LMB006 Limb-Girdle Muscular Dystrophy 52 0.135
252
DYS030 Dysferlinopathy 39 0.135
253
P INS002 in Situ Carcinoma 52 0.135
254
TCL028 T-Cell Lymphoblastic Leukemia/lymphoma 46 0.135
255
c LKM005 Leukemia, T-Cell, Chronic 33 0.135
256
P HRP006 Herpes Simplex 65 0.135
257
P MSC005 Muscular Dystrophy 66 0.135
258
OVR094 Ovarian Epithelial Cancer 39 0.135
259
CCN001 Cocaine Dependence 47 0.135
261
ARG004 Argyria 26 0.135
262
P ENC018 Encephalopathy 62 0.135
263
HYP266 Hypoxia 56 0.135
264
SPN186 Spinal Cord Injury 60 0.135
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