Search results for VHL

241 hits were found for VHL

# Family MCID Name MIFTS Score
1
VNH007 Von Hippel-Lindau Syndrome 73 25.654
2
c ERY071 Erythrocytosis, Familial, 2, Autosomal Recessive 55 15.988
3
INH023 Inherited Cancer-Predisposing Syndrome 46 13.127
4
P PHC003 Pheochromocytoma 71 5.951
5
RNL114 Renal Cell Carcinoma, Nonpapillary 78 5.911
6
CLR030 Clear Cell Renal Cell Carcinoma 53 4.874
7
HMN009 Hemangioblastoma 54 4.544
8
P LNG032 Lung Cancer 98 4.321
9
ATS075 Autosomal Recessive Secondary Polycythemia Not Associated with Vhl Gene 5 4.222
10
HYP266 Hypoxia 57 3.969
11
P KDN017 Kidney Cancer 60 3.916
12
P PLY018 Polycythemia 56 3.562
13
ADN018 Adenoma 59 3.404
14
RNL065 Renal Cell Carcinoma, Papillary, 1 73 3.101
15
P PRG013 Paraganglioma 52 3.101
16
P HMN010 Hemangioma 61 3.052
17
P NRF002 Neurofibromatosis 56 2.958
18
P TBR001 Tuberous Sclerosis 70 2.899
19
P CYS039 Cystic Kidney Disease 54 2.899
20
CYS009 Cystadenoma 44 2.899
21
MCR014 Microcystic Adenoma 27 2.798
22
P MLT074 Multiple Endocrine Neoplasia 56 2.536
23
NRN004 Neuroendocrine Tumor 55 2.461
24
ONC007 Oncocytoma 49 2.431
25
ANG037 Angiomatosis 28 2.431
26
c HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 59 2.416
27
CRB015 Cerebellar Angioblastoma 30 2.416
28
c MLT156 Multiple Endocrine Neoplasia, Type I 72 2.380
29
THY111 Thyroid Carcinoma, Familial Medullary 67 2.361
30
c MLT160 Multiple Endocrine Neoplasia, Type Iia 70 2.339
31
c NRF024 Neurofibromatosis, Type I 77 2.314
32
CLL002 Collecting Duct Carcinoma 53 2.314
33
LMY003 Leiomyomatosis 43 2.314
34
EYD002 Eye Disease 58 2.284
35
CHR177 Chromophobe Renal Cell Carcinoma 57 2.284
36
P CPL006 Capillary Hemangioma 51 2.284
37
HMN004 Hemangioma of Liver 36 2.284
38
END051 Endolymphatic Sac Tumor 27 1.816
39
P PHC019 Pheochromocytoma-Paraganglioma 36 1.801
40
RTN013 Retinal Hemangioblastoma 28 1.708
41
P ERY058 Erythrocytosis, Familial, 1 59 1.654
42
c PRM012 Primary Polycythemia 50 1.654
43
SPR068 Sporadic Pheochromocytoma/secreting Paraganglioma 29 1.654
44
CLR112 Clear Cell Papillary Renal Cell Carcinoma 24 1.654
45
P ACT105 Acute Mountain Sickness 52 1.615
46
P FML362 Familial Isolated Hypoparathyroidism 47 1.615
47
c ERY032 Erythrocytosis, Familial, 4 34 1.615
48
FMR011 Fumarate Hydratase Deficiency 30 1.615
49
ESP014 Esophagus Leiomyoma 29 1.615
50
CRD007 Cardiovascular Organ Benign Neoplasm 27 1.615
51
END036 Endocrine Organ Benign Neoplasm 22 1.615
52
ADN072 Adenoma of Pancreas 20 1.615
53
ADR040 Adrenal Gland Pheochromocytoma 46 0.450
54
THY029 Thyroid Carcinoma 59 0.139
55
c RNL034 Renal Cell Carcinoma 4 16 0.139
56
ISL001 Islet Cell Tumor 56 0.131
57
P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 60 0.123
58
P PNC035 Pancreatic Cancer 84 0.114
59
P ADN016 Adenocarcinoma 64 0.114
60
SVR004 Severe Combined Immunodeficiency 73 0.104
61
P BRS047 Breast Cancer 97 0.093
62
P GLM045 Glioma 63 0.093
63
SQM006 Squamous Cell Carcinoma 60 0.093
64
GLL048 Glial Tumor 45 0.093
65
P CLR023 Colorectal Cancer 99 0.080
66
c MNN043 Meningioma, Familial 74 0.080
67
P CNR004 Cone-Rod Dystrophy 2 73 0.080
68
HYP056 Hypoglycemia 66 0.080
69
c PRC016 Pre-Eclampsia 63 0.080
70
MNN042 Meningioma, Radiation-Induced 62 0.080
71
c WLM018 Wilms Tumor 5 61 0.080
72
P CHN012 Chondrosarcoma 56 0.080
73
c THY109 Thyroid Cancer, Nonmedullary, 1 56 0.080
74
MCL006 Macular Retinal Edema 55 0.080
75
c PNC106 Pancreatic Agenesis 1 51 0.080
76
VSC006 Vascular Cancer 51 0.080
77
SPN021 Spinal Meningioma 50 0.080
78
THY125 Thyroid Gland Medullary Carcinoma 50 0.080
79
PNC034 Pancreas Disease 48 0.080
80
c ACQ010 Acquired Polycythemia 46 0.080
81
ORL015 Oral Squamous Cell Carcinoma 43 0.080
82
SCR001 Secretory Meningioma 41 0.080
83
P RRT020 Rare Tumor 41 0.080
84
c MLG157 Malignant Pheochromocytoma 38 0.080
85
LYM002 Lymphoplasmacyte-Rich Meningioma 36 0.080
86
CHR176 Chromophil Renal Cell Carcinoma 23 0.080
87
c LKM061 Leukemia, Acute Myeloid 84 0.066
88
P RTN024 Retinoblastoma 73 0.066
89
HRD029 Hereditary Leiomyomatosis and Renal Cell Cancer 61 0.066
90
SPN186 Spinal Cord Injury 60 0.066
91
INS001 Insulinoma 60 0.066
92
c ACT071 Acute Kidney Failure 60 0.066
93
P OPT006 Optic Nerve Disease 60 0.066
94
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 59 0.066
95
P FBR017 Fibrosarcoma 56 0.066
96
GNG005 Gangliocytoma 55 0.066
97
P CNT116 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 54 0.066
98
c FML008 Familial Retinoblastoma 53 0.066
99
GNG002 Ganglioneuroma 52 0.066
100
P TRT010 Teratoma 52 0.066
101
MCL027 Macular Dystrophy, Dominant Cystoid 50 0.066
102
47X002 47,xyy 49 0.066
103
HLX001 Helix Syndrome 47 0.066
104
RNL077 Renal Fibrosis 47 0.066
105
RTN020 Retinal Vascular Disease 46 0.066
106
P BNG032 Benign Mesothelioma 46 0.066
107
ADR041 Adrenal Cortical Adenoma 43 0.066
108
MSN004 Mesenchymal Cell Neoplasm 41 0.066
109
48X005 48,xyyy 39 0.066
110
MLT165 Multilocular Cystic Renal Neoplasm of Low Malignant Potential 28 0.066
111
PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 25 0.066
112
c AMY091 Amyotrophic Lateral Sclerosis 1 89 0.046
113
P OVR042 Ovarian Cancer 88 0.046
114
MYL069 Myeloma, Multiple 85 0.046
115
P GST053 Gastric Cancer 83 0.046
116
INS024 Insulin-Like Growth Factor I 79 0.046
117
OST012 Osteoarthritis 78 0.046
118
P LNG064 Lung Cancer Susceptibility 3 78 0.046
119
P PRK057 Parkinson Disease, Late-Onset 78 0.046
120
c TBR025 Tuberous Sclerosis 1 77 0.046
121
KPS004 Kaposi Sarcoma 75 0.046
122
GLB015 Glioblastoma Multiforme 75 0.046
123
c PLM164 Pulmonary Hypertension, Primary, 1 75 0.046
124
c HYP836 Hypercholesterolemia, Familial, 1 73 0.046
125
c TBR026 Tuberous Sclerosis 2 72 0.046
126
P KDN018 Kidney Disease 72 0.046
127
P NRB001 Neuroblastoma 72 0.046
128
P FML011 Familial Adenomatous Polyposis 72 0.046
129
c LKM063 Leukemia, Chronic Myeloid 72 0.046
130
CNT097 Central Hypoventilation Syndrome, Congenital 71 0.046
131
PLY001 Polycythemia Vera 69 0.046
132
P OCL013 Oculodentodigital Dysplasia 69 0.046
133
EWN003 Ewing Sarcoma 69 0.046
134
P LVR013 Liver Disease 68 0.046
135
CHL065 Cholangiocarcinoma 68 0.046
136
P PLM037 Pulmonary Hypertension 67 0.046
137
ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 66 0.046
138
OST159 Osteogenic Sarcoma 66 0.046
139
P HYD006 Hydrocephalus 66 0.046
140
c SML038 Small Cell Cancer of the Lung 65 0.046
141
HTC003 Hutchinson-Gilford Progeria Syndrome 65 0.046
142
P HRS035 Hirschsprung Disease 1 65 0.046
143
SRC014 Sarcoma 65 0.046
144
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.046
145
c WLM013 Wilms Tumor 1 65 0.046
146
ANG020 Angiosarcoma 64 0.046
147
P NRN021 Neuronal Ceroid Lipofuscinosis 64 0.046
148
NRF007 Neurofibroma 64 0.046
149
P END044 Endometriosis 63 0.046
150
c ALP101 Alpha-Thalassemia 62 0.046
151
P PSR002 Psoriasis 62 0.046
152
c BRN108 Branchiootic Syndrome 1 62 0.046
153
c SVR001 Severe Acute Respiratory Syndrome 62 0.046
154
P TRC086 Trichohepatoenteric Syndrome 1 62 0.046
155
ALL026 Allergic Hypersensitivity Disease 62 0.046
156
ALC006 Alcoholic Hepatitis 61 0.046
157
RTN017 Retinal Detachment 61 0.046
158
P MYL006 Myeloid Leukemia 60 0.046
159
CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 60 0.046
160
STR039 Sturge-Weber Syndrome 60 0.046
161
VRC005 Varicose Veins 60 0.046
162
ORL011 Oral Cancer 60 0.046
163
HYD002 Hydronephrosis 60 0.046
164
P THL005 Thalassemia 60 0.046
165
c ACT073 Acute Leukemia 58 0.046
166
ISC004 Ischemia 58 0.046
167
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.046
168
c THY102 Thyroid Cancer, Nonmedullary, 2 58 0.046
169
P GLL018 Gallbladder Cancer 57 0.046
170
P GLM007 Glomerulonephritis 57 0.046
171
CHL067 Cholecystitis 57 0.046
172
IRN002 Iron Metabolism Disease 57 0.046
173
c MST023 Mesothelioma, Malignant 57 0.046
174
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 57 0.046
175
PNM008 Pneumothorax 56 0.046
176
PPL058 Papilloma of Choroid Plexus 56 0.046
177
P TMR010 Tumor Predisposition Syndrome 56 0.046
178
OVR012 Ovarian Serous Cystadenocarcinoma 56 0.046
179
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 55 0.046
180
P DBT005 Diabetes Insipidus 55 0.046
181
P LTR001 Lateral Sclerosis 54 0.046
182
PPL022 Papilloma 54 0.046
183
P RNL017 Renal Oncocytoma 53 0.046
184
GTR002 Goiter 53 0.046
185
INT075 Intracranial Hypertension 53 0.046
186
SPN035 Spindle Cell Sarcoma 53 0.046
187
P RTN018 Retinal Disease 53 0.046
188
PST011 Pustulosis of Palm and Sole 52 0.046
189
IMP005 Impotence 52 0.046
190
P MSC003 Muscular Atrophy 52 0.046
191
P LCT001 Lactic Acidosis 51 0.046
192
INT079 Intrahepatic Cholangiocarcinoma 51 0.046
193
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.046
194
END086 End Stage Renal Disease 51 0.046
195
P OVR082 Overgrowth Syndrome 50 0.046
196
P ECL001 Eclampsia 50 0.046
197
STM007 Stomatitis 50 0.046
198
VPM001 Vipoma 50 0.046
199
BKR002 Baker-Gordon Syndrome 49 0.046
200
SPL018 Splenomegaly 48 0.046
201
SQM002 Squamous Cell Papilloma 46 0.046
202
BNS007 Bone Sarcoma 45 0.046
203
c TRC022 Tricuspid Valve Insufficiency 45 0.046
204
NWC001 Newcastle Disease 45 0.046
205
c SPR009 Sporadic Breast Cancer 45 0.046
206
END035 Endocrine Gland Cancer 45 0.046
207
CNT017 Central Nervous System Origin Vertigo 45 0.046
208
HMH004 Hemihyperplasia, Isolated 45 0.046
210
c PCH010 Pachyonychia Congenita 3 44 0.046
211
DWR001 Dwarfism 44 0.046
212
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 44 0.046
213
SPN040 Spinal Cancer 44 0.046
214
PPL001 Papillary Adenoma 44 0.046
215
c PRM038 Primary Agammaglobulinemia 44 0.046
216
P MYG005 Myoglobinuria 44 0.046
217
CLP005 Ciliopathy 43 0.046
218
GLL017 Gallbladder Adenocarcinoma 43 0.046
219
c CHR546 Chronic Mountain Sickness 43 0.046
220
P MLT008 Multinodular Goiter 42 0.046
221
CYT002 Cytokine Deficiency 42 0.046
222
c RTN041 Retinitis Pigmentosa 11 42 0.046
223
c PNT032 Pontocerebellar Hypoplasia, Type 9 41 0.046
224
ANX004 Anoxia 40 0.046
225
FLL031 Follicular Adenoma 39 0.046
226
HYP264 Hypertonia 38 0.046
227
FST001 Foster-Kennedy Syndrome 36 0.046
228
INT020 Intravenous Leiomyomatosis 36 0.046
229
WBR001 Weber Syndrome 35 0.046
230
PRG080 Progressive Non-Infectious Anterior Vertebral Fusion 35 0.046
231
RTN004 Retinal Microaneurysm 33 0.046
232
SNG003 Single Ventricular Heart 30 0.046
233
PST092 Posttransplant Acute Limbic Encephalitis 29 0.046
234
NRL008 Neural Crest Tumor 27 0.046
235
c LNG109 Lung Cancer Susceptibility 1 27 0.046
236
MST020 Mast Cell Activation Syndrome 26 0.046
237
c HRS034 Hirschsprung Disease 3 26 0.046
238
PNC018 Pancreatic Serous Cystadenoma 24 0.046
239
NRN047 Neuroendocrine Neoplasm of Pancreas 19 0.046
240
ERY007 Erythropoietin Polycythemia 16 0.046
241
c CNG266 Congenital Secondary Polycythemia 8 0.046
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