Search results for mitf

569 hits were found for mitf

# Family MCID Name MIFTS Score
1
TTZ003 Tietz Albinism-Deafness Syndrome 59 50.836
2
c WRD032 Waardenburg Syndrome, Type 2a 48 50.753
3
c MLN043 Melanoma, Cutaneous Malignant 8 38 45.471
4
P WRD001 Waardenburg's Syndrome 60 45.046
5
MCR013 Microphthalmia 59 36.417
6
P MLN008 Melanoma 75 32.743
7
CLB033 Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness 24 30.365
8
c WRD033 Waardenburg Syndrome, Type 2e 53 21.831
9
RRG078 Rare Genetic Deafness 38 17.753
10
P OST001 Osteopetrosis 70 17.317
11
SKN019 Skin Melanoma 70 17.063
12
P SNS001 Sensorineural Hearing Loss 60 16.677
13
P SKN015 Skin Carcinoma 71 16.244
14
HTR005 Heterochromia Iridis 22 16.214
15
c WRD020 Waardenburg Syndrome, Type 4a 49 16.196
16
c WRD030 Waardenburg Syndrome, Type 1 54 15.722
17
P MLN066 Melanoma, Cutaneous Malignant 1 65 14.878
18
RNL065 Renal Cell Carcinoma, Papillary, 1 79 13.841
19
P TMR010 Tumor Predisposition Syndrome 69 13.803
20
P OCL001 Ocular Albinism 47 13.533
21
CLR017 Clear Cell Sarcoma 44 13.497
22
ALB002 Albinism 46 13.296
23
P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 60 12.444
24
P MST009 Mastocytosis 64 12.158
25
ANG018 Angiomyolipoma 45 12.098
26
P FBR003 Fibrous Histiocytoma 43 11.989
27
RNL114 Renal Cell Carcinoma, Nonpapillary 79 11.859
28
CTN028 Cutaneous Telangiectasia and Cancer Syndrome, Familial 70 11.815
29
INH023 Inherited Cancer-Predisposing Syndrome 53 11.815
30
NRF007 Neurofibroma 63 11.686
31
P ALB003 Albinism-Deafness Syndrome 33 11.348
32
c DWL002 Dowling-Degos Disease 1 58 11.085
33
RNL119 Renal Cell Carcinoma, Xp11-Associated 43 10.940
34
PGM003 Pigmentation Disease 45 10.794
35
SKN016 Skin Disease 63 10.191
36
MCS004 Mucosal Melanoma 46 10.118
37
PBL005 Piebald Trait 60 10.049
38
P HRS035 Hirschsprung Disease 1 66 10.033
39
DSS008 Disease of Mental Health 74 10.022
40
P MLN069 Melanoma, Uveal 59 9.756
41
NRL005 Neurilemmoma 60 9.719
42
MLN079 Melanoma in Congenital Melanocytic Nevus 39 9.706
43
MLG077 Malignant Peripheral Nerve Sheath Tumor 53 9.587
44
P PHC003 Pheochromocytoma 70 9.510
45
P ACT008 Actinic Keratosis 53 9.488
46
c PST022 Posterior Uveal Melanoma 41 9.436
47
P BNG095 Benign Giant Cell Tumor 43 9.114
48
P OCL002 Oculocutaneous Albinism 59 9.085
49
PYC001 Pycnodysostosis 55 9.004
50
P RTN018 Retinal Disease 53 8.922
51
PND002 Pendred Syndrome 57 8.804
52
TTH006 Tooth Disease 51 8.757
53
P CHR071 Charcot-Marie-Tooth Disease 64 8.757
54
FSC004 Fasciitis 49 8.757
55
MTS001 Mutism 44 8.643
56
NDL001 Nodular Malignant Melanoma 44 7.626
57
CLR112 Clear Cell Papillary Renal Cell Carcinoma 25 7.387
58
ALB025 Albinism, Ocular, with Late-Onset Sensorineural Deafness 50 7.344
59
P OCL062 Ocular Albinism with Congenital Sensorineural Deafness 24 7.273
60
PGM002 Pigmented Basal Cell Carcinoma 31 7.055
61
LNT002 Lentigo Maligna Melanoma 33 7.019
62
c WRD010 Waardenburg Syndrome Type 4 31 7.019
63
HLX001 Helix Syndrome 47 6.978
64
P HRD200 Hereditary Breast Ovarian Cancer Syndrome 67 6.799
65
P RTN008 Retinitis Pigmentosa 79 6.777
66
EPT001 Epithelioid Cell Melanoma 23 6.737
67
PRV003 Perivascular Epithelioid Cell Tumor 38 6.596
68
MLG005 Malignant Spindle Cell Melanoma 39 6.539
69
c WRD031 Waardenburg Syndrome, Type 3 46 6.523
70
c WRD024 Waardenburg Syndrome, Type 4c 42 6.309
71
c WRD019 Waardenburg Syndrome, Type 4b 46 6.309
72
c WRD022 Waardenburg Syndrome, Type 2d 34 6.309
73
CHL010 Childhood Kidney Cell Carcinoma 39 6.309
74
c WRD026 Waardenburg Syndrome, Type 2c 26 6.273
75
PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 50 6.273
76
CTN010 Cutaneous Ganglioneuroma 28 6.273
77
c WRD029 Waardenburg Syndrome, Type 2b 28 6.226
78
GLL012 Gallbladder Melanoma 26 6.226
79
ATM016 Autoimmune Disease of Skin and Connective Tissue 32 6.111
81
VSC006 Vascular Cancer 46 6.111
82
c ATS417 Autosomal Dominant Non-Syndromic Intellectual Disability 19 30 6.111
83
P PRV005 Perivascular Tumor 31 6.111
84
MLG061 Malignant Choroid Melanoma 33 6.111
85
OCH001 Ochronosis 40 6.111
86
P LRG012 Large Congenital Melanocytic Nevus 48 6.111
87
UTR029 Uterus Perivascular Epithelioid Cell Tumor 26 6.111
88
P ADL037 Adult Xanthogranuloma 31 6.111
89
FND002 Fundus Dystrophy 54 6.111
90
c BRN108 Branchiootic Syndrome 1 63 5.624
91
GST103 Gastric Cancer, Hereditary Diffuse 68 3.830
92
VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 42 3.802
93
SML009 Small Intestine Adenocarcinoma 57 3.734
94
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 3.507
95
c PLY162 Polyposis Syndrome, Hereditary Mixed, 1 59 3.490
96
c CLR087 Colorectal Cancer 12 34 3.490
97
P GST053 Gastric Cancer 82 3.465
98
P LNG032 Lung Cancer 98 3.456
99
P PRS040 Prostate Cancer 95 3.431
100
CLN015 Colon Adenocarcinoma 64 3.355
101
CHD004 Chudley-Mccullough Syndrome 47 3.028
102
P LNG064 Lung Cancer Susceptibility 3 69 2.974
103
BLD173 Bladder Small Cell Carcinoma 44 2.956
104
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 2.774
105
P RTN016 Retinal Degeneration 52 2.694
106
BNR002 Bone Resorption Disease 47 2.671
107
P NNS072 Nonsyndromic Hearing Loss 42 2.522
108
ESP021 Esophageal Cancer 84 2.419
109
GST040 Gastric Adenocarcinoma 66 2.386
110
HYP266 Hypoxia 56 2.365
111
SRC014 Sarcoma 64 2.326
112
SPN035 Spindle Cell Sarcoma 51 2.319
113
END057 Endometrial Cancer 76 2.317
114
P BLD134 Bladder Cancer 79 2.302
115
GLM045 Glioma 62 2.230
116
LNG039 Lung Squamous Cell Carcinoma 57 2.156
117
P GLM040 Glioma Susceptibility 1 70 2.116
118
ADN011 Adenoid Cystic Carcinoma 68 2.100
119
P KDN017 Kidney Cancer 60 2.071
120
c MSM022 Mismatch Repair Cancer Syndrome 1 69 2.002
121
c GLM043 Glioma Susceptibility 9 30 2.002
122
c GLM025 Glioma Susceptibility 2 30 2.002
123
c GLM047 Glioma Susceptibility 3 32 2.002
124
MNN043 Meningioma, Familial 79 2.002
125
P OLG002 Oligodendroglioma 66 2.002
126
BRN015 Bronchiolo-Alveolar Adenocarcinoma 55 1.982
127
ADN089 Adenosquamous Lung Carcinoma 51 1.982
128
LNT004 Lentigines 45 1.962
130
P PNC035 Pancreatic Cancer 87 1.823
131
P BRS047 Breast Cancer 97 1.798
132
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 1.578
133
PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 34 1.498
134
SKN022 Skin Squamous Cell Carcinoma 53 1.498
135
PSD011 Pseudovascular Skin Squamous Cell Carcinoma 16 1.498
136
c NNS007 Nonsyndromic Deafness 36 1.494
137
CLB010 Coloboma of Macula 53 1.477
138
SYS004 Systemic Mastocytosis 62 1.477
139
BRS099 Breast Ductal Carcinoma 61 1.471
140
P TRC031 Trichorhinophalangeal Syndrome 37 1.465
141
CLB026 Colobomatous Microphthalmia 48 1.380
142
P RTN024 Retinoblastoma 72 1.335
143
P TBR001 Tuberous Sclerosis 69 1.335
144
PRT037 Pertussis 49 1.310
145
CHL065 Cholangiocarcinoma 57 1.297
146
P HPT023 Hepatocellular Carcinoma 95 1.297
147
INT079 Intrahepatic Cholangiocarcinoma 51 1.297
148
P NRB001 Neuroblastoma 66 1.260
149
P ANT080 Antigen Defined by Monoclonal Antibody Aj9 18 1.256
150
MYL069 Myeloma, Multiple 76 1.256
151
CTN004 Cutaneous Fibrous Histiocytoma 39 1.256
152
c MCL066 Macular Dystrophy, Vitelliform, 2 49 1.242
153
P DRM053 Dermatitis, Atopic 65 1.227
154
P HRM021 Hair Morphology 2 21 1.227
155
MLN065 Melanocytic Nevus Syndrome, Congenital 62 1.201
156
SQM013 Squamous Cell Carcinoma, Head and Neck 75 1.201
157
END041 Endometrial Adenocarcinoma 63 1.201
158
ALV005 Alveolar Soft Part Sarcoma 61 1.191
159
MST004 Mast Cell Neoplasm 41 1.159
160
EXT007 Extracutaneous Mastocytoma 38 1.159
161
RFR003 Refractive Error 41 1.142
162
SPT007 Spitz Nevus 34 1.101
163
ESP027 Esophagus Squamous Cell Carcinoma 45 1.096
164
CHL014 Cholera 62 1.063
165
GLB002 Glioblastoma 67 1.055
166
NCL008 Nuclear Ribonucleic Acid 15 1.050
167
MGC001 Megacolon 48 1.050
168
CTT001 Catatrichy 14 1.036
169
P MYC007 Myocardial Infarction 69 1.036
170
c TBR025 Tuberous Sclerosis 1 84 1.022
171
TCH005 Tièche-Jadassohn Nevus 28 1.022
172
c BSL007 Basal Cell Carcinoma 67 1.008
173
KDN015 Kidney Angiomyolipoma 46 1.008
174
SFT003 Soft Tissue Sarcoma 43 1.008
175
UTR020 Uterine Inversion 27 0.997
176
c SML038 Small Cell Cancer of the Lung 68 0.993
177
EWN003 Ewing Sarcoma 69 0.993
178
P BLD062 Bile Duct Cancer 69 0.981
179
FRY006 Fryns Microphthalmia Syndrome 52 0.977
180
CNG034 Congestive Heart Failure 69 0.977
181
c HMP012 Hemophagocytic Lymphohistiocytosis, Familial, 2 47 0.961
182
AML001 Amelanotic Melanoma 37 0.961
183
FBR019 Fibromatosis 44 0.961
184
OST159 Osteogenic Sarcoma 66 0.944
185
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.944
186
DRM014 Dermatofibrosarcoma Protuberans 64 0.944
187
CYT002 Cytokine Deficiency 43 0.944
188
BDN002 Bednar Tumor 25 0.944
189
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 58 0.926
190
c LKM063 Leukemia, Chronic Myeloid 70 0.926
191
SRC008 Sarcomatoid Squamous Cell Skin Carcinoma 27 0.926
192
KLD004 Keloid Disorder 38 0.926
193
HYP855 Hyperpigmentation of the Skin 25 0.926
194
c SPN294 Spinocerebellar Ataxia 1 53 0.908
195
c MLG084 Malignant Fibrous Histiocytoma 62 0.908
196
KRT009 Keratosis 52 0.908
197
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 0.908
198
P DYS023 Dyschromatosis Universalis Hereditaria 33 0.888
199
HST022 Histiocytoma, Angiomatoid Fibrous 26 0.888
200
AMN014 Aminopterin Syndrome Sine Aminopterin 31 0.888
201
RPD005 Rapidly Involuting Congenital Hemangioma 48 0.888
202
P EYD002 Eye Disease 57 0.888
203
RRS010 Rare Soft Tissue Tumor 18 0.888
204
P PRG013 Paraganglioma 57 0.867
205
c PRG020 Paragangliomas 3 39 0.867
206
ADR040 Adrenal Gland Pheochromocytoma 45 0.867
207
INT002 Intermittent Claudication 61 0.867
208
HYP066 Hyperglycemia 60 0.867
209
TXC005 Toxic Shock Syndrome 61 0.867
210
P RRD005 Rare Deafness 20 0.867
211
c PRS097 Prostate Cancer, Hereditary, 1 38 0.849
212
c PRS114 Prostate Cancer, Hereditary, 2 33 0.849
213
c PRS070 Prostate Cancer, Hereditary, 12 22 0.849
214
c PRS071 Prostate Cancer, Hereditary, 13 25 0.849
215
c PRS117 Prostate Cancer, Hereditary, 11 24 0.849
216
PPL004 Papillary Squamous Carcinoma 39 0.849
217
LBL001 Lobular Neoplasia 54 0.849
218
LNG012 Lung Occult Squamous Cell Carcinoma 20 0.849
219
PRS015 Prostate Signet Ring Cell Adenocarcinoma 25 0.849
220
LNG007 Lung Mixed Small Cell and Squamous Cell Carcinoma 20 0.849
221
SQM016 Squamous Cell Carcinoma of Gallbladder and Extrahepatic Biliary Tract 16 0.849
222
CRC045 Carcinoma of Gallbladder and Extrahepatic Biliary Tract 20 0.849
223
AGN016 Aging 53 0.845
224
MNC001 Monocular Esotropia 30 0.845
225
P LCH002 Lichen Planus 54 0.845
226
NRL008 Neural Crest Tumor 26 0.845
227
ORL011 Oral Cancer 60 0.845
228
EST005 Esotropia 43 0.845
229
PST092 Posttransplant Acute Limbic Encephalitis 29 0.845
230
c LKM061 Leukemia, Acute Myeloid 83 0.821
231
VTR013 Vitreoretinopathy, Neovascular Inflammatory 62 0.821
232
HRW001 Hair Whorl 35 0.821
233
c FNC042 Fanconi Anemia, Complementation Group D2 54 0.821
234
ADN018 Adenoma 58 0.821
235
CRC021 Carcinosarcoma 62 0.821
236
UTR024 Uterine Carcinosarcoma 58 0.821
237
P VTR007 Vitreoretinopathy 45 0.821
238
CNS004 Constipation 56 0.794
239
PTH003 Pathologic Nystagmus 52 0.794
240
LCH008 Lichen Planus Pigmentosus 23 0.794
241
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 0.763
242
AST006 Astigmatism 46 0.763
243
FRN006 Frontotemporal Dementia 68 0.763
244
c AMY091 Amyotrophic Lateral Sclerosis 1 87 0.763
245
P DMY001 Demyelinating Polyneuropathy 41 0.763
246
P LTR001 Lateral Sclerosis 57 0.763
247
P MYP006 Myopia 55 0.763
248
P LKD001 Leukodystrophy 58 0.763
249
RCK004 Rickets 64 0.763
250
HYP854 Hypopigmentation of the Skin 22 0.763
251
P HYP265 Hypotonia 42 0.763
252
P OVR042 Ovarian Cancer 88 0.761
253
PRT251 Proteinuria, Chronic Benign 58 0.727
254
MYL009 Myelodysplastic Syndrome 67 0.727
256
c OPT053 Optic Atrophy 1 62 0.727
257
c SKN070 Skin/hair/eye Pigmentation, Variation in, 8 15 0.727
258
P NPH012 Nephrotic Syndrome 61 0.727
259
SCB001 Scabies 49 0.727
260
MD2001 Med23 19 0.727
261
CRV013 Cervical Adenoid Cystic Carcinoma 35 0.693
262
END002 Endometrioid Ovary Carcinoma 53 0.693
263
P LKM062 Leukemia, Acute Lymphoblastic 69 0.681
264
c WLM013 Wilms Tumor 1 65 0.679
265
MNN010 Meningeal Melanoma 31 0.679
266
SPR033 Superficial Spreading Melanoma 25 0.679
267
P CND005 Cone Dystrophy 47 0.593
268
ACC008 Accelerated Tumor Formation 20 0.582
269
THY029 Thyroid Carcinoma 55 0.565
270
P LMY004 Leiomyosarcoma 62 0.560
271
c ALB021 Albinism, Oculocutaneous, Type Ii 58 0.523
272
DST001 Distal Biliary Tract Carcinoma 24 0.490
273
MYL005 Myelofibrosis 70 0.482
274
HGH043 High Grade Glioma 46 0.482
275
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 0.457
276
ONC007 Oncocytoma 49 0.442
277
P NRF002 Neurofibromatosis 60 0.427
278
MSN004 Mesenchymal Cell Neoplasm 42 0.412
279
P BND020 Bone Disease 60 0.396
280
SVR004 Severe Combined Immunodeficiency 70 0.396
281
CHR176 Chromophil Renal Cell Carcinoma 23 0.396
282
HRD223 Hereditary Melanoma 38 0.396
283
ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 35 0.343
284
ANR009 Aneurysmal Bone Cysts 43 0.323
285
P SRC025 Sarcoidosis 1 70 0.323
286
c BNM018 Bone Mineral Density Quantitative Trait Locus 3 33 0.323
287
LYM007 Lymphangioleiomyomatosis 68 0.323
288
VLL003 Villonodular Synovitis 41 0.323
289
HST010 Histiocytosis 49 0.323
290
GNT001 Giant Cell Reparative Granuloma 40 0.323
291
PGM001 Pigmented Villonodular Synovitis 55 0.323
292
SYN007 Synovitis 54 0.323
293
BNG036 Bone Giant Cell Tumor 48 0.323
294
PLC002 Plica Syndrome 35 0.323
295
P RNL017 Renal Oncocytoma 54 0.323
296
P BNG032 Benign Mesothelioma 53 0.302
297
P LPS002 Liposarcoma 64 0.302
298
P KDN018 Kidney Disease 71 0.302
299
NRR001 Neuroretinitis 42 0.302
300
RTN023 Retinitis 45 0.302
301
P BCL017 B-Cell Lymphoma 57 0.302
302
GST092 Gastroesophageal Reflux 59 0.280
303
P VTL001 Vitelliform Macular Dystrophy 46 0.280
304
P HRM001 Hermansky-Pudlak Syndrome 65 0.280
305
DRM006 Dermatitis 61 0.280
306
OVR094 Ovarian Epithelial Cancer 39 0.280
307
P RRT020 Rare Tumor 39 0.280
308
PPL052 Papillomatosis, Confluent and Reticulated 34 0.255
309
ATS010 Autosomal Recessive Disease 42 0.255
310
ANG020 Angiosarcoma 63 0.255
311
c THY107 Thymoma, Familial 42 0.255
312
ATM095 Autoimmune Disease 61 0.255
313
P THY023 Thymoma 64 0.255
314
INT020 Intravenous Leiomyomatosis 35 0.255
315
LMY003 Leiomyomatosis 43 0.255
316
P ACN011 Acne 55 0.255
317
OCL022 Ocular Melanoma 54 0.255
318
CHR177 Chromophobe Renal Cell Carcinoma 54 0.255
319
BP1002 Bap1 Tumor Predisposition Syndrome 42 0.255
320
CHD001 Chediak-Higashi Syndrome 66 0.228
321
c SKN068 Skin/hair/eye Pigmentation, Variation in, 3 25 0.228
322
c ALB010 Albinism, Oculocutaneous, Type Ib 52 0.228
323
c ALB009 Albinism, Oculocutaneous, Type Ia 54 0.228
324
MYC006 Mycosis Fungoides 64 0.228
325
GST019 Gastrointestinal Stromal Tumor 78 0.228
326
c HRD202 Hereditary Lymphedema I 54 0.228
327
P GRN010 Granular Cell Tumor 40 0.228
328
IMP005 Impotence 52 0.228
329
CLR030 Clear Cell Renal Cell Carcinoma 53 0.228
330
P RHN004 Rhinitis 56 0.228
331
BRS004 Breast Angiosarcoma 36 0.228
332
LMY002 Leiomyoma 51 0.228
333
MLG142 Malignant Conjunctival Melanoma 37 0.228
334
P MYL006 Myeloid Leukemia 60 0.228
335
OCL016 Ocular Albinism, X-Linked 24 0.228
336
GLL048 Glial Tumor 51 0.228
337
P STR022 Stargardt Disease 61 0.198
338
DFC004 Deficiency Anemia 74 0.198
339
c ALB019 Albinism, Oculocutaneous, Type Iv 48 0.198
340
DLT018 Dilution, Pigmentary 27 0.198
341
DYS022 Dyschromatosis Symmetrica Hereditaria 49 0.198
342
GRY004 Graying of Hair, Precocious 7 0.198
343
c FNC027 Fanconi Anemia, Complementation Group a 80 0.198
344
EPD052 Epidermolysis Bullosa Simplex Superficialis 17 0.198
345
c MST023 Mesothelioma, Malignant 56 0.198
346
P FNC044 Fanconi Anemia, Complementation Group C 56 0.198
347
CMB007 Combined Immunodeficiency 56 0.198
348
P PLY014 Polycystic Kidney Disease 71 0.198
349
INF058 Inflammatory Myofibroblastic Tumor 45 0.198
350
P ADN016 Adenocarcinoma 63 0.198
351
P NTR004 Neutropenia 62 0.198
352
P THR014 Thrombocytopenia 66 0.198
353
P MST002 Mast-Cell Leukemia 50 0.198
354
PRT036 Peritonitis 65 0.198
355
HYP213 Hypomelanotic Disorder 23 0.198
356
47X002 47,xyy 47 0.198
357
48X005 48,xyyy 39 0.198
358
c ATS007 Autism Spectrum Disorder 71 0.162
359
SHR112 Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies 28 0.162
360
ALL003 Allergic Rhinitis 66 0.162
361
P CRN038 Carney Complex Variant 63 0.162
362
LPM012 Lipomatosis, Multiple 59 0.162
363
INS024 Insulin-Like Growth Factor I 77 0.162
364
P BRT053 Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 45 0.162
365
P FML011 Familial Adenomatous Polyposis 70 0.162
366
c NNP011 Nanophthalmos 2 26 0.162
367
INT323 Intraocular Pressure Quantitative Trait Locus 63 0.162
368
c DFN360 Deafness, Autosomal Dominant 69 34 0.162
369
P ATX030 Ataxia-Telangiectasia 80 0.162
370
P CHN012 Chondrosarcoma 56 0.162
371
c NNP017 Nanophthalmos 1 21 0.162
372
c TBR026 Tuberous Sclerosis 2 71 0.162
373
c HRM006 Hermansky-Pudlak Syndrome 3 43 0.162
374
P ASP006 Aspergillosis 71 0.162
375
HYP748 Hypertelorism 46 0.162
376
INV001 Invasive Aspergillosis 48 0.162
377
P GRS003 Griscelli Syndrome 54 0.162
378
PLM005 Pleomorphic Lipoma 39 0.162
379
DPH001 Diphtheria 59 0.162
380
GNG005 Gangliocytoma 54 0.162
381
P SYR003 Syringoma 36 0.162
382
P GCH001 Gaucher's Disease 69 0.162
383
CNT047 Contact Dermatitis 56 0.162
384
BCL002 B Cell Deficiency 40 0.162
385
SQM006 Squamous Cell Carcinoma 59 0.162
386
CHL067 Cholecystitis 59 0.162
387
HMS001 Hemosiderosis 48 0.162
388
P HYP087 Hypotrichosis 41 0.162
389
GNG002 Ganglioneuroma 52 0.162
390
RSP023 Rasopathy 54 0.162
391
PRN022 Perineurioma 36 0.162
392
END031 Endometrial Stromal Sarcoma 45 0.162
393
PST011 Pustulosis of Palm and Sole 52 0.162
394
ART016 Aortic Aneurysm 68 0.162
395
KHN001 Kuhnt-Junius Degeneration 48 0.162
396
DDF001 Dedifferentiated Liposarcoma 49 0.162
397
TLN003 Telangiectasis 51 0.162
398
SGN002 Signet Ring Cell Adenocarcinoma 46 0.162
399
P PSR002 Psoriasis 63 0.162
400
INT038 Interdigitating Dendritic Cell Sarcoma 35 0.162
401
P MNC007 Monocytic Leukemia 48 0.162
402
P NGH001 Night Blindness 52 0.162
403
c BRT024 Bartter Syndrome Type 4 25 0.162
404
P RRH023 Rare Hereditary Hemochromatosis 52 0.162
405
FXD003 Fixed Drug Eruption 34 0.162
406
ATS251 Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna 38 0.162
407
PGM030 Pigmentation Anomaly of the Skin 26 0.162
408
SLD011 Solid Pseudopapillary Carcinoma of Pancreas 29 0.162
409
ARG004 Argyria 26 0.162
410
PRV023 Perivascular Epithelioid Cell Neoplasm 21 0.162
411
SPN186 Spinal Cord Injury 60 0.162
412
ATS252 Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb 42 0.162
413
CNN010 Connective Tissue Benign Neoplasm 44 0.114
414
BCK005 Becker Nevus Syndrome 33 0.114
415
CHN065 Choanal Atresia, Posterior 48 0.114
416
P PTS002 Ptosis 52 0.114
417
FBR054 Fibroma 44 0.114
418
c CNG513 Congenital Ptosis 43 0.114
419
RTN017 Retinal Detachment 60 0.114
420
APR006 Apert Syndrome 69 0.114
421
P ALZ034 Alzheimer Disease 87 0.114
422
VNH007 Von Hippel-Lindau Syndrome 72 0.114
423
c ACH020 Achromatopsia 2 48 0.114
424
P MYP087 Myopathy, Tubular Aggregate, 1 49 0.114
425
PGT003 Paget Disease, Extramammary 48 0.114
426
ERM002 Ear Malformation 37 0.114
427
BRT002 Birt-Hogg-Dube Syndrome 64 0.114
428
KRT071 Keratosis, Seborrheic 56 0.114
429
c GLY007 Glycogen Storage Disease Iv 58 0.114
430
c MCR124 Microphthalmia, Isolated 1 40 0.114
431
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 79 0.114
432
GRY002 Gray Platelet Syndrome 57 0.114
433
MSC157 Muscular Dystrophy, Duchenne Type 78 0.114
434
P ANR048 Aniridia 1 66 0.114
435
P CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 52 0.114
436
CFF002 Coffin-Lowry Syndrome 59 0.114
437
LGH019 Light Fixation Seizure Syndrome 28 0.114
438
c XRD030 Xeroderma Pigmentosum, Complementation Group C 55 0.114
439
XRD010 Xeroderma Pigmentosum, Variant Type 72 0.114
440
ALB024 Albinism, Ocular, Type I 37 0.114
441
P LYM113 Lymphoproliferative Syndrome, X-Linked, 1 64 0.114
442
DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 52 0.114
443
c ART067 Aortic Aneurysm, Familial Thoracic 1 61 0.114
444
P NSP012 Nasopharyngeal Carcinoma 60 0.114
445
PRP027 Peripheral Vascular Disease 71 0.114
446
DSS032 Disease by Infectious Agent 55 0.114
447
c NRB016 Neuroblastoma 7 15 0.114
448
KSH004 Kashin-Beck Disease 37 0.114
449
ADR016 Adrenal Cortical Carcinoma 61 0.114
450
ALL001 Allan-Herndon-Dudley Syndrome 54 0.114
451
CRN264 Craniosynostosis with Fibular Aplasia 29 0.114
452
ADR054 Adrenocortical Carcinoma, Hereditary 47 0.114
453
c DFN097 Deafness, Autosomal Recessive 1a 49 0.114
454
MLN073 Melanosis, Neurocutaneous 45 0.114
455
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 57 0.114
456
TBL029 Tubulin, Beta 28 0.114
457
c PCH010 Pachyonychia Congenita 3 43 0.114
458
c MCR211 Microphthalmia, Isolated 6 38 0.114
459
CHR492 Chromosome 13q14 Deletion Syndrome 42 0.114
460
c ATR087 Atrial Standstill 1 74 0.114
461
BRK010 Burkitt Lymphoma 65 0.114
462
MLN070 Melanoma-Astrocytoma Syndrome 34 0.114
463
P HNT016 Huntington Disease 73 0.114
464
CLF027 Cleft Palate, Isolated 64 0.114
465
HMN044 Human Immunodeficiency Virus Type 1 76 0.114
466
c SKN065 Skin/hair/eye Pigmentation, Variation in, 1 27 0.114
467
PRT010 Parathyroid Carcinoma 68 0.114
468
c DFN201 Deafness, Autosomal Recessive 3 37 0.114
469
P KLZ004 Kala-Azar 1 41 0.114
470
P CNG010 Congenital Stationary Night Blindness 56 0.114
471
END075 Endocervical Adenocarcinoma 37 0.114
472
NTM002 Nut Midline Carcinoma 44 0.114
473
THY128 Thyroid Tumor 33 0.114
474
P RSP003 Respiratory Failure 73 0.114
475
P PRK039 Parkinsonism 55 0.114
476
P NNP021 Nanophthalmos 40 0.114
477
P ALP004 Alport Syndrome 69 0.114
478
SPP007 Suppression Amblyopia 38 0.114
479
HYP080 Hypogonadism 49 0.114
480
MLG169 Malignant Astrocytoma 57 0.114
481
P CYS017 Cystic Teratoma 41 0.114
482
ANP005 Anaplastic Astrocytoma 59 0.114
483
PPL022 Papilloma 53 0.114
484
P GLY013 Glycogen Storage Disease 59 0.114
485
GLM008 Glomus Tumor 48 0.114
486
AMB002 Amblyopia 49 0.114
487
BCT022 Bacterial Infectious Disease 55 0.114
488
P HYP730 Hypogonadotropic Hypogonadism 57 0.114
489
END007 Endosalpingiosis 37 0.114
490
CRV038 Cervical Squamous Cell Carcinoma 56 0.114
491
CTN012 Cutaneous Leiomyosarcoma 29 0.114
492
WLL039 Well-Differentiated Liposarcoma 44 0.114
493
ART017 Aortic Disease 49 0.114
494
PLM019 Pleomorphic Liposarcoma 39 0.114
495
END043 Endometrial Stromal Tumor 34 0.114
496
HPT006 Hepatic Angiomyolipoma 31 0.114
497
FML029 Familial Renal Papillary Carcinoma 30 0.114
498
P PGT001 Paget's Disease of Bone 60 0.114
499
RTR008 Root Resorption 44 0.114
500
P PLY011 Polycystic Ovary Syndrome 57 0.114
501
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 0.114
502
P EPL164 Epilepsy 70 0.114
503
P ACH003 Achromatopsia 61 0.114
504
SQM002 Squamous Cell Papilloma 45 0.114
505
P LVR013 Liver Disease 68 0.114
506
P MYP004 Myopathy 67 0.114
507
RTC001 Reticulohistiocytic Granuloma 31 0.114
508
CRN036 Craniopharyngioma 63 0.114
509
P PLM036 Pulmonary Fibrosis 65 0.114
510
INT066 Interstitial Lung Disease 60 0.114
511
PSY004 Psychotic Disorder 66 0.114
512
PPL009 Papillary Craniopharyngioma 29 0.114
513
ADR004 Adrenal Cortical Adenocarcinoma 38 0.114
514
P TRT010 Teratoma 50 0.114
515
TBL003 Tubular Adenocarcinoma 40 0.114
516
P SBS003 Substance Abuse 54 0.114
517
GTR002 Goiter 52 0.114
518
c ACT073 Acute Leukemia 59 0.114
519
c ACT068 Acute Cystitis 60 0.114
520
P UVT001 Uveitis 57 0.114
521
VGT001 Vogt-Koyanagi-Harada Disease 55 0.114
522
P NRN021 Neuronal Ceroid Lipofuscinosis 64 0.114
523
P CTR002 Cataract 59 0.114
524
ADN013 Adenoid Squamous Cell Carcinoma 38 0.114
525
P EPT012 Epithelioid Sarcoma 41 0.114
526
MTN001 Metanephric Adenoma 40 0.114
527
P CWD010 Cowden Syndrome 70 0.114
528
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.114
529
P KLL001 Kallmann Syndrome 65 0.114
530
MMM001 Mammary Paget's Disease 53 0.114
531
GLL017 Gallbladder Adenocarcinoma 42 0.114
532
INV005 Inverted Follicular Keratosis 31 0.114
533
MTC005 Mitochondrial Metabolism Disease 44 0.114
534
MLG041 Malignant Triton Tumor 33 0.114
535
PSD016 Pseudosarcomatous Fibromatosis 37 0.114
536
PRT029 Parathyroid Adenoma 51 0.114
537
P HRD020 Hereditary Renal Cell Carcinoma 35 0.114
538
NNS009 Nonsyndromic Hearing Loss and Deafness, Dfnb1 30 0.114
540
BLR013 Biliary Tract Cancer 43 0.114
541
LSH001 Leishmaniasis 63 0.114
542
P CNG024 Congenital Nystagmus 35 0.114
543
VSC003 Visceral Leishmaniasis 54 0.114
544
PPT005 Peptic Ulcer Disease 58 0.114
545
END086 End Stage Renal Disease 54 0.114
546
EPT008 Epithelioid Malignant Peripheral Nerve Sheath Tumor 26 0.114
547
LNG099 Lung Disease 62 0.114
548
FTT001 Fatty Liver Disease 61 0.114
549
P HMR005 Hemorrhoid 49 0.114
550
ERY069 Erythrokeratoderma ''en Cocardes'' 26 0.114
551
GRM010 Germ Cells Tumors 33 0.114
552
BCK006 Back Pain 43 0.114
553
UTR043 Uterine Sarcoma 40 0.114
554
P MSC005 Muscular Dystrophy 66 0.114
555
P ALP008 Alopecia 53 0.114
556
DFN038 Dfnb1 35 0.114
557
LYM095 Lymphangiomatosis 31 0.114
558
ACQ048 Acquired Cystic Disease-Associated Renal Cell Carcinoma 12 0.114
559
PLY100 Polyploidy 36 0.114
560
HST016 Histiocytic Sarcoma 38 0.114
561
SYN120 Syndromic Oculocutaneous Albinism 21 0.114
562
CNG506 Congenital Amyoplasia 27 0.114
563
DSC009 Discoid Lupus Erythematosus 42 0.114
564
NNS044 Non-Syndromic Genetic Deafness 38 0.114
565
RRR010 Rare Renal Tumor 14 0.114
566
FRN020 Frontal Fibrosing Alopecia 48 0.114
567
GLY078 Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency 38 0.114
568
SPL018 Splenomegaly 47 0.114
569
DYS073 Dysphagia 53 0.114
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