Search results for sox10

589 hits were found for sox10

# Family MCID Name MIFTS Score
1
PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 50 40.659
2
c WRD033 Waardenburg Syndrome, Type 2e 53 38.195
3
P WRD001 Waardenburg's Syndrome 60 35.267
4
c WRD024 Waardenburg Syndrome, Type 4c 42 34.975
5
c WRD020 Waardenburg Syndrome, Type 4a 49 30.265
6
P HRS035 Hirschsprung Disease 1 66 29.403
7
P KLL001 Kallmann Syndrome 65 22.064
8
RRG078 Rare Genetic Deafness 38 19.219
9
c WRD010 Waardenburg Syndrome Type 4 31 18.223
10
P LKD001 Leukodystrophy 58 16.962
11
P MLN008 Melanoma 75 15.628
12
MGC001 Megacolon 48 15.544
13
P CHR071 Charcot-Marie-Tooth Disease 64 15.042
14
P NRP001 Neuropathy 59 14.885
15
MLG077 Malignant Peripheral Nerve Sheath Tumor 53 13.970
16
ADN011 Adenoid Cystic Carcinoma 68 12.916
17
P SNS001 Sensorineural Hearing Loss 60 12.489
18
TTH006 Tooth Disease 51 12.383
19
c WRD032 Waardenburg Syndrome, Type 2a 48 12.315
20
MCR013 Microphthalmia 59 12.037
21
P PLC011 Pilocytic Astrocytoma 55 11.792
22
INT072 Intestinal Pseudo-Obstruction 60 11.727
23
P SCH015 Schizophrenia 74 11.535
24
P CMP005 Campomelic Dysplasia 65 11.289
25
c WRD030 Waardenburg Syndrome, Type 1 54 11.149
26
NRL005 Neurilemmoma 60 10.960
27
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 10.750
28
NRF007 Neurofibroma 63 10.259
29
P OLG002 Oligodendroglioma 66 10.052
30
MNN043 Meningioma, Familial 79 10.020
31
P SKN015 Skin Carcinoma 71 9.878
32
CLR017 Clear Cell Sarcoma 44 9.712
33
P ACT008 Actinic Keratosis 53 9.622
34
CLF027 Cleft Palate, Isolated 64 9.310
35
c CHR516 Charcot-Marie-Tooth Disease, Type 4c 49 9.218
36
SKN019 Skin Melanoma 70 9.214
37
P PRP019 Peripheral Nervous System Disease 57 8.789
38
c 46X081 46,xx Sex Reversal 34 8.671
39
P NRP063 Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive 61 8.513
40
CHR629 Charcot-Marie-Tooth Disease and Deafness 55 8.513
41
c LKD010 Leukodystrophy, Hypomyelinating, 2 48 7.212
42
P MLN069 Melanoma, Uveal 59 7.196
43
CHR103 Charge Syndrome 65 7.129
44
CHN056 Chondrosarcoma, Extraskeletal Myxoid 42 7.027
45
MMM007 Mammary Analogue Secretory Carcinoma 33 7.027
46
c CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 57 6.902
47
CLB010 Coloboma of Macula 53 6.840
48
TTZ003 Tietz Albinism-Deafness Syndrome 59 6.817
49
MWT001 Mowat-Wilson Syndrome 57 6.817
50
P PLZ001 Pelizaeus-Merzbacher Disease 65 6.790
51
CNT097 Central Hypoventilation Syndrome, Congenital 70 6.760
52
CRS005 Crest Syndrome 36 6.725
53
PBL005 Piebald Trait 60 6.725
54
MLG005 Malignant Spindle Cell Melanoma 39 6.373
55
c WRD031 Waardenburg Syndrome, Type 3 46 6.293
56
CLL001 Cellular Schwannoma 29 6.269
57
P MLN066 Melanoma, Cutaneous Malignant 1 65 6.243
58
c WRD019 Waardenburg Syndrome, Type 4b 46 6.177
59
INT004 Intraneural Perineurioma 27 6.177
60
ATY004 Atypical Neurofibroma 24 6.177
61
P TRC072 Treacher Collins Syndrome 1 62 6.131
62
OVR104 Ovarian Melanoma 19 6.131
63
NRL002 Neurilemmomatosis 52 6.131
64
PLX001 Plexiform Schwannoma 31 6.131
65
EPT008 Epithelioid Malignant Peripheral Nerve Sheath Tumor 26 6.131
66
c WRD026 Waardenburg Syndrome, Type 2c 26 6.019
67
MTH079 Methylmalonic Acidemia and Homocysteinemia, Cblx Type 47 6.019
68
P ORF002 Orofacial Cleft 43 6.019
69
c WRD022 Waardenburg Syndrome, Type 2d 34 6.019
70
HYP186 Hypertrophic Neuropathy of Dejerine-Sottas 52 6.019
71
c WRD029 Waardenburg Syndrome, Type 2b 28 6.019
72
MLN079 Melanoma in Congenital Melanocytic Nevus 39 6.019
73
END006 Endobronchial Lipoma 25 6.019
74
SWT008 Sweat Gland Benign Neoplasm 33 6.019
75
MLG019 Malignant Giant Cell Tumor of the Tendon Sheath 31 6.019
76
CNJ017 Conjunctival Nevus 27 6.019
77
CCH001 Cochlear Disease 28 6.019
78
CLL006 Cellular Neurofibroma 21 6.019
79
BRN007 Brain Oligodendroglioma 21 6.019
80
MLG061 Malignant Choroid Melanoma 33 6.019
81
CRB033 Cerebral Degeneration 36 6.019
82
DSS008 Disease of Mental Health 74 6.019
83
NRM005 Neuromuscular Disease 62 6.019
84
NSL003 Nasal Cavity Adenocarcinoma 32 6.019
85
CNJ004 Conjunctival Pigmentation 20 6.019
86
P LRG012 Large Congenital Melanocytic Nevus 48 6.019
87
NRF003 Neurofibrosarcoma 43 6.019
88
APC005 Apocrine Sweat Gland Neoplasm 31 6.019
89
GLL012 Gallbladder Melanoma 26 6.019
90
TNS004 Tonsil Cancer 44 6.019
91
c BRN108 Branchiootic Syndrome 1 63 5.518
92
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 4.046
93
P DMY001 Demyelinating Polyneuropathy 41 3.392
94
HYP080 Hypogonadism 49 2.776
95
P HYP730 Hypogonadotropic Hypogonadism 57 2.769
96
P BRS047 Breast Cancer 97 2.687
97
P ADN016 Adenocarcinoma 63 2.414
98
HTR005 Heterochromia Iridis 22 1.911
99
PLM014 Pleomorphic Adenoma 51 1.885
100
ADN018 Adenoma 58 1.876
101
SPN035 Spindle Cell Sarcoma 51 1.869
102
SRC014 Sarcoma 64 1.869
103
ISL004 Isolated Gonadotropin-Releasing Hormone Deficiency 27 1.746
104
P HYP265 Hypotonia 42 1.711
105
SRC027 Sarcoma, Synovial 58 1.637
106
CNS004 Constipation 56 1.582
107
NRL008 Neural Crest Tumor 26 1.580
108
ONC007 Oncocytoma 49 1.529
109
GLM045 Glioma 62 1.529
110
HYP572 Hypoganglionosis 28 1.518
111
GLL048 Glial Tumor 51 1.518
112
P NSP012 Nasopharyngeal Carcinoma 60 1.507
113
LYM002 Lymphoplasmacyte-Rich Meningioma 35 1.507
114
SCR001 Secretory Meningioma 40 1.507
115
INT395 Intracranial Meningioma 47 1.507
116
c DWL002 Dowling-Degos Disease 1 58 1.472
117
P RHB003 Rhabdomyosarcoma 66 1.445
118
P SYR003 Syringoma 36 1.422
119
EWN003 Ewing Sarcoma 69 1.386
120
HLX001 Helix Syndrome 47 1.386
121
ACN001 Acinar Cell Carcinoma 44 1.386
122
DRM014 Dermatofibrosarcoma Protuberans 64 1.376
123
P NRB001 Neuroblastoma 66 1.376
124
P NRF002 Neurofibromatosis 60 1.355
125
ERM002 Ear Malformation 37 1.351
126
P GLM040 Glioma Susceptibility 1 70 1.351
127
MCP006 Mucoepidermoid Carcinoma 48 1.344
128
MLG169 Malignant Astrocytoma 57 1.335
129
P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 60 1.322
130
VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 42 1.322
131
CNG506 Congenital Amyoplasia 27 1.319
132
P HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 57 1.310
133
PPL022 Papilloma 53 1.310
134
SQM002 Squamous Cell Papilloma 45 1.310
135
GLB002 Glioblastoma 67 1.286
136
MYP002 Myoepithelial Carcinoma 45 1.286
137
P BNG030 Benign Ependymoma 51 1.221
138
CLL010 Cellular Ependymoma 58 1.221
139
SQM006 Squamous Cell Carcinoma 59 1.192
140
47X002 47,xyy 47 1.192
141
MLN065 Melanocytic Nevus Syndrome, Congenital 62 1.144
143
KRT009 Keratosis 52 1.109
144
CNG562 Congenital Hypogonadotropic Hypogonadism 28 1.109
145
PRN022 Perineurioma 36 1.106
146
P GRN010 Granular Cell Tumor 40 1.072
147
CNN010 Connective Tissue Benign Neoplasm 44 1.035
148
P CHN012 Chondrosarcoma 56 1.022
149
GST019 Gastrointestinal Stromal Tumor 78 1.022
150
MSN004 Mesenchymal Cell Neoplasm 42 1.022
151
P EXT030 Extraosseous Chondrosarcoma 31 1.008
152
P MYX008 Myxoid Chondrosarcoma 28 1.008
153
P BLD134 Bladder Cancer 79 0.994
154
NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 45 0.994
155
PST092 Posttransplant Acute Limbic Encephalitis 29 0.994
156
P CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 52 0.980
157
BRN028 Brain Cancer 73 0.980
158
P INS002 in Situ Carcinoma 52 0.980
159
DCT002 Ductal Carcinoma in Situ 58 0.950
160
P PRS040 Prostate Cancer 95 0.950
161
RHB024 Rhabdomyosarcoma 2 65 0.950
162
LWG006 Low Grade Glioma 41 0.950
163
PRV003 Perivascular Epithelioid Cell Tumor 38 0.950
165
c NRP064 Neuropathy, Congenital Hypomyelinating, 2 35 0.935
166
EPT010 Epithelial-Myoepithelial Carcinoma 55 0.935
167
LYM006 Lymphoepithelioma-Like Carcinoma 39 0.935
168
P MDL005 Medulloblastoma 75 0.918
169
MLC004 Mulchandani-Bhoj-Conlin Syndrome 51 0.918
170
P HPT023 Hepatocellular Carcinoma 95 0.918
171
SYR002 Syringocystadenoma Papilliferum 42 0.918
172
EMB004 Embryonal Carcinoma 55 0.918
173
P OVR082 Overgrowth Syndrome 41 0.918
174
LNT004 Lentigines 45 0.901
175
SRS001 Serous Cystadenocarcinoma 51 0.901
176
CYS009 Cystadenoma 42 0.901
177
c BSL007 Basal Cell Carcinoma 67 0.901
178
ALL029 Allergic Disease 61 0.901
179
P INT070 Intestinal Obstruction 57 0.901
180
P MLT020 Multiple Sclerosis 79 0.883
181
GST040 Gastric Adenocarcinoma 66 0.883
182
48X005 48,xyyy 39 0.883
183
WRT003 Warthin Tumor 26 0.883
184
PLZ002 Pelizaeus-Merzbacher-Like Disease 37 0.864
185
MYX013 Myxofibrosarcoma 44 0.864
186
MYP001 Myoepithelioma 37 0.864
187
ADN009 Adenosquamous Carcinoma 49 0.864
188
BSL006 Basaloid Squamous Cell Carcinoma 43 0.864
189
c SML038 Small Cell Cancer of the Lung 68 0.843
190
P LNG032 Lung Cancer 98 0.843
191
P HYP086 Hypothyroidism 68 0.843
192
FBR001 Fibrous Meningioma 25 0.843
193
P TRM003 Tremor 50 0.843
194
P PRG013 Paraganglioma 57 0.821
195
c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 48 0.821
196
c LRG001 Large Cell Carcinoma 48 0.821
197
HDR004 Hidradenoma 37 0.821
198
LNG039 Lung Squamous Cell Carcinoma 57 0.821
199
P ATM019 Autoimmune Polyendocrine Syndrome 46 0.821
200
BRS063 Breast Squamous Cell Carcinoma 27 0.821
201
RHB001 Rhabdoid Cancer 68 0.821
202
P HYP076 Hyperthyroidism 53 0.821
203
CTT001 Catatrichy 14 0.797
204
TBR017 Tuberculin Skin Test Reactivity, Absence of 13 0.797
205
P DST002 Distal Arthrogryposis 63 0.797
206
AML029 Ameloblastoma 46 0.797
207
ISC004 Ischemia 61 0.797
208
SNS003 Sensory Peripheral Neuropathy 51 0.797
209
ACH005 Achalasia 54 0.797
210
OPD006 Opioid Addiction 48 0.797
211
P SZR006 Seizure Disorder 69 0.797
212
c HRD088 Hereditary Neuropathies 34 0.797
213
SPS057 Spasticity 43 0.797
214
P PNC035 Pancreatic Cancer 87 0.774
215
PPL058 Papilloma of Choroid Plexus 54 0.771
216
c AMY091 Amyotrophic Lateral Sclerosis 1 87 0.771
217
P LNG064 Lung Cancer Susceptibility 3 69 0.771
218
c HRD010 Hereditary Spastic Paraplegia 65 0.771
219
ATY005 Atypical Teratoid Rhabdoid Tumor 69 0.771
220
PRP016 Paraplegia 52 0.771
221
c MLG049 Malignant Syringoma 37 0.771
222
P LTR001 Lateral Sclerosis 57 0.771
223
MGS001 Megaesophagus 44 0.771
224
NRN001 Neuroendocrine Carcinoma 47 0.771
225
c SCH079 Schizophrenia 1 44 0.741
226
ALC007 Alcohol Dependence 65 0.741
227
ENT011 Enterocolitis 55 0.741
228
MCN017 Meconium Ileus 52 0.741
229
PRS064 Persistent Vegetative State 33 0.741
230
P SHR001 Short Bowel Syndrome 53 0.741
231
LRY018 Laryngeal Squamous Cell Carcinoma 47 0.741
232
ILS001 Ileus 49 0.741
233
CHL062 Childhood Pilocytic Astrocytoma 26 0.741
234
P LCH002 Lichen Planus 54 0.741
235
PTH003 Pathologic Nystagmus 52 0.741
236
c ERL020 Early-Onset Schizophrenia 43 0.741
237
LCH008 Lichen Planus Pigmentosus 23 0.741
238
P ENC018 Encephalopathy 62 0.741
239
c HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 47 0.740
240
LPM012 Lipomatosis, Multiple 59 0.706
241
ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 49 0.706
242
P STR020 Strabismus 56 0.706
243
NDL001 Nodular Malignant Melanoma 44 0.706
244
PLM005 Pleomorphic Lipoma 39 0.706
245
CRB037 Cerebral Palsy 66 0.706
246
P BRS044 Breast Adenocarcinoma 58 0.706
247
MCH006 Mechanical Strabismus 40 0.706
248
ALB002 Albinism 46 0.706
249
P DSR090 Disorder of Sexual Development 45 0.663
250
P FRG001 Fragile X Syndrome 70 0.659
251
P CRB045 Cerebellar Hypoplasia 40 0.659
252
SPN006 Spindle Cell Lipoma 33 0.659
253
MRK001 Merkel Cell Carcinoma 64 0.548
254
DMY004 Demyelinating Disease 50 0.524
255
SPN186 Spinal Cord Injury 60 0.418
256
P RRT020 Rare Tumor 39 0.353
257
GJB007 Gjb1 Disorders: Charcot Marie Tooth Neuropathy and Central Nervous System Phenotypes 6 0.335
258
AGN016 Aging 53 0.296
259
P FBR017 Fibrosarcoma 55 0.296
260
P LPS002 Liposarcoma 64 0.296
261
P CLR023 Colorectal Cancer 100 0.274
262
SVR004 Severe Combined Immunodeficiency 70 0.274
263
SPR008 Supratentorial Primitive Neuroectodermal Tumor 42 0.274
264
CNT115 Central Nervous System Embryonal Tumor 21 0.274
265
P PHC003 Pheochromocytoma 70 0.250
266
ADR040 Adrenal Gland Pheochromocytoma 45 0.250
267
RPD005 Rapidly Involuting Congenital Hemangioma 48 0.250
268
MCS004 Mucosal Melanoma 46 0.250
269
MNP001 Monophasic Synovial Sarcoma 28 0.250
270
P TRT010 Teratoma 50 0.250
271
FBR019 Fibromatosis 44 0.250
272
WLL004 Wallerian Degeneration 38 0.250
273
HYP266 Hypoxia 56 0.250
274
P TST021 Testicular Germ Cell Tumor 61 0.223
275
c THY109 Thyroid Cancer, Nonmedullary, 1 55 0.223
276
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.223
277
HYP748 Hypertelorism 46 0.223
278
P ANT088 Anterior Segment Dysgenesis 54 0.223
279
P HYP700 Hypomyelinating Leukodystrophy 35 0.223
280
IMP005 Impotence 52 0.223
281
P MLN007 Male Infertility 56 0.223
282
PLX002 Plexiform Neurofibroma 44 0.223
283
THY124 Thyroid Gland Papillary Carcinoma 38 0.223
284
DDF001 Dedifferentiated Liposarcoma 49 0.223
285
DFF036 Differentiated Thyroid Carcinoma 51 0.223
286
PDT043 Pediatric Acute-Onset Neuropsychiatric Syndrome 26 0.223
287
P BNG072 Benign Peripheral Nerve Sheath Tumor 15 0.223
288
SFT003 Soft Tissue Sarcoma 43 0.223
289
NNS011 Nonseminomatous Germ Cell Tumor 32 0.223
290
c ATS007 Autism Spectrum Disorder 71 0.194
291
ALV005 Alveolar Soft Part Sarcoma 61 0.194
292
CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 60 0.194
293
P RTN024 Retinoblastoma 72 0.194
294
OST159 Osteogenic Sarcoma 66 0.194
295
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 58 0.194
296
ANG020 Angiosarcoma 63 0.194
297
c ALB021 Albinism, Oculocutaneous, Type Ii 58 0.194
298
P RNL100 Renal Hypodysplasia/aplasia 1 63 0.194
299
P HMN036 Hemangiopericytoma, Malignant 56 0.194
300
P TMR010 Tumor Predisposition Syndrome 69 0.194
301
ESP021 Esophageal Cancer 84 0.194
302
c HRD202 Hereditary Lymphedema I 54 0.194
303
CMB007 Combined Immunodeficiency 56 0.194
304
P PNB001 Pineoblastoma 49 0.194
305
NRT004 Neuritis 53 0.194
306
c MLG084 Malignant Fibrous Histiocytoma 62 0.194
307
P LMY004 Leiomyosarcoma 62 0.194
308
SPN009 Spindle Cell Rhabdomyosarcoma 39 0.194
309
RSP023 Rasopathy 54 0.194
310
BRS004 Breast Angiosarcoma 36 0.194
311
P PNC044 Pancreatitis 61 0.194
312
CLF001 Cleft Lip 54 0.194
313
P HMR005 Hemorrhoid 49 0.194
314
CCN002 Cocaine Abuse 49 0.194
315
GRM010 Germ Cells Tumors 33 0.194
316
TRM010 Traumatic Brain Injury 50 0.194
317
CLF004 Cleft Lip/palate 56 0.194
318
c MJR022 Major Affective Disorder 8 37 0.158
319
c ALP101 Alpha-Thalassemia 62 0.158
320
P PTS002 Ptosis 52 0.158
321
CRY035 Cryptorchidism, Unilateral or Bilateral 57 0.158
322
PPL052 Papillomatosis, Confluent and Reticulated 34 0.158
323
NRL016 Neural Tube Defects 80 0.158
324
c HYD064 Hydrocephalus, Congenital, 1 51 0.158
325
PLY150 Polykaryocytosis Inducer 29 0.158
326
GRY004 Graying of Hair, Precocious 7 0.158
327
SCH068 Schwartz-Jampel Syndrome, Type 1 52 0.158
328
STR067 Stroke, Ischemic 79 0.158
329
P PLR004 Pleuropulmonary Blastoma 65 0.158
330
P BRT053 Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 45 0.158
331
JNS007 Jansen-De Vries Syndrome 28 0.158
332
c MJR024 Major Affective Disorder 9 40 0.158
333
P GST053 Gastric Cancer 82 0.158
334
DYS160 Dyssegmental Dysplasia, Silverman-Handmaker Type 48 0.158
335
c HRS034 Hirschsprung Disease 3 24 0.158
336
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 0.158
337
P HNT016 Huntington Disease 73 0.158
338
RNL114 Renal Cell Carcinoma, Nonpapillary 79 0.158
339
c MCL066 Macular Dystrophy, Vitelliform, 2 49 0.158
340
ACR058 Acrofacial Dysostosis 1, Nager Type 49 0.158
341
PGM003 Pigmentation Disease 45 0.158
342
BNR002 Bone Resorption Disease 47 0.158
343
CNS022 Cns Neuroblastoma with Foxr2 Activation 10 0.158
344
PRC055 Pericytoma with T(7;12) 11 0.158
345
OST015 Osteochondrodysplasia 60 0.158
346
P ART021 Arteriosclerosis 53 0.158
347
DYS018 Dysostosis 43 0.158
348
EMB002 Embryoma 37 0.158
349
MLG032 Malignant Granular Cell Myoblastoma 25 0.158
350
WLL039 Well-Differentiated Liposarcoma 44 0.158
351
SMT002 Smooth Muscle Tumor 38 0.158
352
P BPL003 Bipolar Disorder 56 0.158
353
ANG018 Angiomyolipoma 45 0.158
354
ACR014 Acral Lentiginous Melanoma 53 0.158
355
IRN002 Iron Metabolism Disease 56 0.158
356
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 0.158
357
BRS062 Breast Secretory Carcinoma 31 0.158
358
HDR001 Hidrocystoma 32 0.158
359
CYS014 Cystadenocarcinoma 51 0.158
360
CHL022 Childhood Central Nervous System Primitive Neuroectodermal Neoplasm 16 0.158
361
PLM030 Pleomorphic Rhabdomyosarcoma 40 0.158
362
P HYP040 Hypospadias 51 0.158
363
P HYD006 Hydrocephalus 62 0.158
364
KRT002 Keratomalacia 54 0.158
365
LMY002 Leiomyoma 51 0.158
366
PRV004 Periventricular Leukomalacia 52 0.158
367
MCR011 Microinvasive Gastric Cancer 41 0.158
368
AZS001 Azoospermia 45 0.158
369
CRB004 Cerebral Artery Occlusion 45 0.158
370
MLG142 Malignant Conjunctival Melanoma 37 0.158
371
P INF032 Infertility 60 0.158
372
SKN016 Skin Disease 63 0.158
373
ADR008 Adrenal Adenoma 55 0.158
374
P AXN001 Axonal Neuropathy 33 0.158
375
MLG041 Malignant Triton Tumor 33 0.158
376
P FBR003 Fibrous Histiocytoma 43 0.158
377
INT038 Interdigitating Dendritic Cell Sarcoma 35 0.158
378
c CNG023 Congenital Fibrosarcoma 42 0.158
379
DBT010 Diabetic Neuropathy 54 0.158
380
P NRV007 Nervous System Disease 65 0.158
381
ALL014 Allergic Encephalomyelitis 34 0.158
382
c BRT024 Bartter Syndrome Type 4 25 0.158
383
P THL005 Thalassemia 56 0.158
384
ALD013 Aldosterone-Producing Adenoma 36 0.158
385
SPR033 Superficial Spreading Melanoma 25 0.158
386
DFN038 Dfnb1 35 0.158
387
RRS010 Rare Soft Tissue Tumor 18 0.158
388
MLN064 Melanoma of Soft Tissue 24 0.158
389
TCH005 Tièche-Jadassohn Nevus 28 0.158
390
c DNT047 Dentinogenesis Imperfecta Type 2 35 0.158
391
BRN071 Brain Injury 50 0.158
392
DYS073 Dysphagia 53 0.158
393
THY029 Thyroid Carcinoma 55 0.158
394
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 0.112
395
c NMN014 Niemann-Pick Disease, Type C2 49 0.112
396
SXL003 Sexual Disorder 49 0.112
397
BRN034 Brain Meningioma 33 0.112
398
MYL009 Myelodysplastic Syndrome 67 0.112
399
ERL051 Early Response to Neural Induction Gene 8 0.112
400
c PRG020 Paragangliomas 3 39 0.112
401
APH002 Aphasia 55 0.112
402
TRC097 Tracheomalacia 43 0.112
403
FBR054 Fibroma 44 0.112
404
LRG014 Large Cell Neuroendocrine Carcinoma 44 0.112
405
c CNG513 Congenital Ptosis 43 0.112
406
CNT061 Conotruncal Heart Malformations 66 0.112
407
CHR072 Chordoma 56 0.112
408
c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 66 0.112
409
DWN001 Down Syndrome 70 0.112
410
ALX003 Alexander Disease 61 0.112
411
c CHR517 Charcot-Marie-Tooth Disease, Type 4a 46 0.112
412
CHD001 Chediak-Higashi Syndrome 66 0.112
413
c MLT160 Multiple Endocrine Neoplasia, Type Iia 67 0.112
414
MBS002 Moebius Syndrome 53 0.112
415
P MJR007 Major Affective Disorder 1 42 0.112
416
DLT018 Dilution, Pigmentary 27 0.112
417
CRZ001 Crouzon Syndrome 64 0.112
419
c MCP050 Mucopolysaccharidosis, Type Ii 73 0.112
420
MSC157 Muscular Dystrophy, Duchenne Type 78 0.112
421
BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 56 0.112
422
c OPT051 Opitz Gbbb Syndrome, Type I 45 0.112
423
CFF002 Coffin-Lowry Syndrome 59 0.112
424
FCL009 Focal Dermal Hypoplasia 63 0.112
425
P FRN036 Frontonasal Dysplasia 1 43 0.112
426
AST006 Astigmatism 46 0.112
427
P DRM053 Dermatitis, Atopic 65 0.112
428
P 46X052 46,xx Sex Reversal 1 54 0.112
429
c SPN430 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1 39 0.112
430
P FML011 Familial Adenomatous Polyposis 70 0.112
431
ATS010 Autosomal Recessive Disease 42 0.112
432
INT323 Intraocular Pressure Quantitative Trait Locus 63 0.112
433
c MNT319 Mental Retardation, Autosomal Dominant 20 42 0.112
434
PNS018 Pain Sensitivity Quantitative Trait Locus 1 23 0.112
435
c NRB015 Neuroblastoma 2 29 0.112
437
P ZNC008 Zinc Finger Protein 1 22 0.112
438
CRN264 Craniosynostosis with Fibular Aplasia 29 0.112
439
P CRP001 Carpal Tunnel Syndrome 65 0.112
440
PCK003 Pick Disease of Brain 70 0.112
441
LMY014 Leiomyoma, Uterine 55 0.112
442
INS023 Insensitivity to Pain, Congenital, with Anhidrosis 56 0.112
443
c NMN013 Niemann-Pick Disease, Type a 63 0.112
444
c NRD017 Neurodegeneration with Brain Iron Accumulation 1 63 0.112
445
c HRS029 Hirschsprung Disease 4 24 0.112
446
P MJR001 Major Depressive Disorder 68 0.112
447
c MLN043 Melanoma, Cutaneous Malignant 8 38 0.112
448
SCH074 Schuurs-Hoeijmakers Syndrome 48 0.112
449
c HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 25 0.112
450
c PCH010 Pachyonychia Congenita 3 43 0.112
451
c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 29 0.112
452
c CHR670 Charcot-Marie-Tooth Disease, Demyelinating, Type 4f 44 0.112
453
c HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 26 0.112
454
c HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 24 0.112
455
HST022 Histiocytoma, Angiomatoid Fibrous 26 0.112
456
c HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 29 0.112
457
CHL065 Cholangiocarcinoma 57 0.112
459
MCR330 Microphthalmia, Isolated, with Cataract 1 19 0.112
460
P HRM021 Hair Morphology 2 21 0.112
461
CRT072 Creutzfeldt-Jakob Disease 67 0.112
462
EPC005 Epicanthus 35 0.112
463
MLT157 Multiple System Atrophy 1 69 0.112
464
LYM029 Lymphedema-Distichiasis Syndrome 52 0.112
465
NRP051 Neuropathy, Hereditary, with Liability to Pressure Palsies 55 0.112
466
c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 49 0.112
467
GLC053 Glucocorticoid Deficiency 3 20 0.112
468
c DFN201 Deafness, Autosomal Recessive 3 37 0.112
469
P FTL001 Fetal Alcohol Syndrome 55 0.112
470
MNT001 Mantle Cell Lymphoma 65 0.112
471
SPT022 Spitzoid Melanoma 36 0.112
472
P SLV026 Salivary Gland Carcinoma 59 0.112
473
NTM002 Nut Midline Carcinoma 44 0.112
474
EXT050 Extraneural Perineurioma 16 0.112
475
SLT016 Solitary Fibrous Tumor/hemangiopericytoma 26 0.112
476
LPF001 Lipofibromatosis-Like Neural Tumor 8 0.112
477
P FLL037 Follicular Lymphoma 66 0.112
478
SPP007 Suppression Amblyopia 38 0.112
479
BLP004 Blepharophimosis 36 0.112
480
RLP002 Relapsing-Remitting Multiple Sclerosis 56 0.112
481
P CRN037 Craniosynostosis 67 0.112
482
GNG005 Gangliocytoma 54 0.112
483
PPL002 Papillary Carcinoma 46 0.112
484
TNS001 Tenosynovial Giant Cell Tumor 42 0.112
485
P CYS017 Cystic Teratoma 41 0.112
486
INF058 Inflammatory Myofibroblastic Tumor 45 0.112
487
VSC006 Vascular Cancer 46 0.112
488
P TBR001 Tuberous Sclerosis 69 0.112
489
P BRS053 Breast Fibroadenoma 48 0.112
490
AMB002 Amblyopia 49 0.112
491
c SPN335 Spinocerebellar Ataxia Type 1 with Axonal Neuropathy 42 0.112
492
ALP094 Alpha Thalassemia-Intellectual Disability Syndrome Type 1 31 0.112
493
HMP001 Hemopericardium 47 0.112
494
GNG002 Ganglioneuroma 52 0.112
495
P HRM001 Hermansky-Pudlak Syndrome 65 0.112
496
CTN004 Cutaneous Fibrous Histiocytoma 39 0.112
497
CLR030 Clear Cell Renal Cell Carcinoma 53 0.112
498
MTR010 Mature Teratoma 40 0.112
499
P SPR013 Spiradenoma 33 0.112
500
PLM019 Pleomorphic Liposarcoma 39 0.112
501
INT020 Intravenous Leiomyomatosis 35 0.112
502
NDL009 Nodular Basal Cell Carcinoma 40 0.112
503
LMY003 Leiomyomatosis 43 0.112
504
PRG009 Progressive Multifocal Leukoencephalopathy 58 0.112
505
P ACN011 Acne 55 0.112
506
TST018 Testicular Yolk Sac Tumor 38 0.112
507
INF021 Infant Gynecomastia 30 0.112
508
P MYP006 Myopia 55 0.112
509
P CRN026 Corneal Edema 42 0.112
510
GST037 Gastroparesis 52 0.112
511
P OBS001 Obstructive Jaundice 49 0.112
512
P PLY019 Polyneuropathy 52 0.112
513
OPT003 Opiate Dependence 49 0.112
514
HYP005 Hypokalemia 55 0.112
515
P SYP003 Syphilis 59 0.112
516
CRC021 Carcinosarcoma 62 0.112
517
AML001 Amelanotic Melanoma 37 0.112
518
INS001 Insulinoma 59 0.112
519
P SML002 Small Cell Sarcoma 22 0.112
520
SML003 Small Cell Osteogenic Sarcoma 26 0.112
521
P EXT032 Extraosseous Osteosarcoma 31 0.112
522
c ADL019 Adult Fibrosarcoma 31 0.112
523
SRC002 Sarcomatoid Renal Cell Carcinoma 41 0.112
524
INT079 Intrahepatic Cholangiocarcinoma 51 0.112
525
P PRC012 Pericardial Effusion 50 0.112
526
RCK004 Rickets 64 0.112
527
ACS001 Acoustic Neuroma 55 0.112
528
GYN001 Gynecomastia 48 0.112
529
P MCR010 Microcephaly 59 0.112
530
MNT002 Mental Depression 56 0.112
531
P NMN002 Niemann-Pick Disease 60 0.112
532
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 0.112
533
HYD002 Hydronephrosis 58 0.112
534
ANH002 Anhidrosis 45 0.112
535
P END039 Endodermal Sinus Tumor 42 0.112
536
CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 56 0.112
537
P EPT012 Epithelioid Sarcoma 41 0.112
538
ACT049 Acute Disseminated Encephalomyelitis 53 0.112
539
OLF005 Olfactory Neuroblastoma 46 0.112
540
MMM001 Mammary Paget's Disease 53 0.112
541
P MST009 Mastocytosis 64 0.112
542
MYL003 Myeloid Sarcoma 48 0.112
543
ANP009 Anaplastic Oligodendroglioma 41 0.112
544
PSD016 Pseudosarcomatous Fibromatosis 37 0.112
545
DSM007 Desmoplastic Small Round Cell Tumor 54 0.112
546
P ART034 Aortopulmonary Window 21 0.112
547
BWN006 Bowen's Disease 32 0.112
548
P NRC002 Narcolepsy 55 0.112
549
FSC004 Fasciitis 49 0.112
550
P RTN016 Retinal Degeneration 52 0.112
551
CYT002 Cytokine Deficiency 43 0.112
552
HYP213 Hypomelanotic Disorder 23 0.112
553
LNG004 Langerhans Cell Sarcoma 34 0.112
554
ECC004 Eccrine Porocarcinoma 41 0.112
555
HMN016 Hemangioendothelioma 35 0.112
556
MND005 Mondini Dysplasia 18 0.112
557
RST024 Rosette-Forming Glioneuronal Tumor 29 0.112
558
c ERL012 Early-Onset Glaucoma 23 0.112
559
P NNS072 Nonsyndromic Hearing Loss 42 0.112
560
BCK006 Back Pain 43 0.112
561
SYN031 Synovial Chondromatosis 42 0.112
562
UTR043 Uterine Sarcoma 40 0.112
563
c XLN110 X-Linked Charcot-Marie-Tooth Disease 33 0.112
564
P MSC005 Muscular Dystrophy 66 0.112
565
NRN046 Neuronal Tumor 19 0.112
566
CRC006 Carcinoid Syndrome 55 0.112
567
IRR002 Irritable Bowel Syndrome 64 0.112
568
PNS014 Penis Agenesis 38 0.112
569
CHR159 Charlie M Syndrome 21 0.112
570
CHR178 Chromosomal Triplication 33 0.112
571
DND018 Dendritic Cell Tumor 40 0.112
572
EMB007 Embryonal Sarcoma 40 0.112
573
PCS004 Pacs1 Neurodevelopmental Disorder 10 0.112
574
P ADT009 Auditory Neuropathy Spectrum Disorder 34 0.112
575
BDN002 Bednar Tumor 25 0.112
576
PGM030 Pigmentation Anomaly of the Skin 26 0.112
577
SLD011 Solid Pseudopapillary Carcinoma of Pancreas 29 0.112
578
HST016 Histiocytic Sarcoma 38 0.112
579
c ATS452 Autosomal Recessive Axonal Hereditary Motor and Sensory Neuropathy 18 0.112
580
MCR103 Microtia 40 0.112
581
INT357 Intestinal Malformation 11 0.112
582
PRV023 Perivascular Epithelioid Cell Neoplasm 21 0.112
583
HYP855 Hyperpigmentation of the Skin 25 0.112
584
HRS003 Hirschsprung Disease Ganglioneuroblastoma 18 0.112
585
ORF053 Orofacial Clefting Syndrome 31 0.112
586
DPR016 Depression 64 0.112
587
P CHR345 Chronic Pain 50 0.112
588
P DYS021 Dysautonomia 38 0.112
589
ATS252 Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb 42 0.112
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