Search results for sox9

289 hits were found for sox9

# Family MCID Name MIFTS Score
1
P CMP005 Campomelic Dysplasia 64 6.045
2
P CHN012 Chondrosarcoma 56 2.641
3
P GND004 Gonadal Dysgenesis 48 2.612
4
OST012 Osteoarthritis 78 2.591
5
CLF027 Cleft Palate, Isolated 64 2.580
6
c 46X082 46,xy Sex Reversal 46 2.569
7
c 46X081 46,xx Sex Reversal 34 2.455
8
ESP021 Esophageal Cancer 90 2.436
9
P PRR016 Pierre Robin Syndrome 52 2.252
10
P DSR089 Disorders of Sexual Development 45 2.243
11
c 46X048 46,xx Sex Reversal 2 27 2.196
12
DGN001 Degenerative Disc Disease 48 2.153
13
c 46X058 46,xy Sex Reversal 10 24 2.153
14
P 46X052 46,xx Sex Reversal 1 50 2.116
15
c BSL007 Basal Cell Carcinoma 68 2.102
16
P HYP040 Hypospadias 51 2.073
17
MCR013 Microphthalmia 57 2.057
18
ODN023 Odontochondrodysplasia 68 2.039
19
PNC129 Pancreatic Adenocarcinoma 68 2.039
20
P MSN005 Mesenchymal Chondrosarcoma 41 2.039
21
HRM002 Hermaphroditism 36 2.039
22
P MDL005 Medulloblastoma 77 2.019
23
P SCL018 Scoliosis 60 2.019
24
GND001 Gonadoblastoma 44 2.019
25
CHN004 Chondroblastoma 40 2.019
26
ACH004 Achondroplasia 66 1.997
27
CHR072 Chordoma 58 1.997
28
FRS002 Frasier Syndrome 55 1.997
29
P HYP077 Hypertrichosis 50 1.997
30
P MXD016 Mixed Gonadal Dysgenesis 35 1.997
31
c ART115 Aortic Valve Disease 1 75 1.970
32
CRN036 Craniopharyngioma 65 1.970
33
P CLD001 Cleidocranial Dysplasia 65 1.970
34
P MLT007 Multiple Epiphyseal Dysplasia 58 1.970
35
CRT017 Cartilage Disease 54 1.454
36
c 46X049 46,xy Sex Reversal 2 48 1.454
37
c 46X051 46,xy Sex Reversal 1 44 1.454
38
c 46X060 46,xx Disorder of Sex Development 18 1.454
39
P ALG028 Alagille Syndrome 1 73 1.428
40
c WLM013 Wilms Tumor 1 65 1.428
41
CRY035 Cryptorchidism, Unilateral or Bilateral 58 1.428
42
TRC097 Tracheomalacia 42 1.428
43
CHN053 Chondromyxoid Fibroma 39 1.428
44
46X012 46,xy Partial Gonadal Dysgenesis 37 1.428
45
P RTN008 Retinitis Pigmentosa 79 1.393
46
BRT054 Brittle Bone Disorder 72 1.393
47
HYL004 Hyaline Fibromatosis Syndrome 67 1.393
48
CHR103 Charge Syndrome 67 1.393
49
c PRM196 Premature Ovarian Failure 1 67 1.393
50
P HRS035 Hirschsprung Disease 1 65 1.393
51
CHR619 Chromosome 2q35 Duplication Syndrome 62 1.393
52
P OST009 Osteochondritis Dissecans 62 1.393
53
P STC001 Stickler Syndrome 56 1.393
54
OST016 Osteochondrosis 53 1.393
55
PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 51 1.393
56
MTT002 Metatropic Dysplasia 50 1.393
57
P PRS049 Persistent Mullerian Duct Syndrome 50 1.393
58
P FBR025 Fibrochondrogenesis 48 1.393
59
P ORF002 Orofacial Cleft 44 1.393
60
c 46X030 46,xy Sex Reversal 9 42 1.393
61
PHY002 Physical Disorder 42 1.393
62
SYN031 Synovial Chondromatosis 42 1.393
63
P BRC003 Brachyolmia 39 1.393
64
TRC026 Tracheal Disease 38 1.393
65
P PNC045 Pancreatic Agenesis 37 1.393
66
CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 37 1.393
67
c CRD101 Cardiomyopathy, Dilated, 1x 34 1.393
68
ADL042 Adult Malignant Schwannoma 34 1.393
69
P BND014 Bone Development Disease 33 1.393
70
MCR016 Micronodular Basal Cell Carcinoma 32 1.393
71
OVR009 Ovarian Gonadoblastoma 28 1.393
72
BND004 Bone Deterioration Disease 24 1.393
73
BNS002 Bone Structure Disease 24 1.393
74
c DLT017 Dilated Cardiomyopathy 1t 23 1.393
75
ISL075 Isolated Pierre Robin Sequence 29 0.191
76
P GST053 Gastric Cancer 83 0.161
77
OST159 Osteogenic Sarcoma 66 0.161
78
NNS035 Nonsyndromic 46,xx Testicular Disorders of Sex Development 11 0.156
79
P CLR023 Colorectal Cancer 99 0.144
80
P HPT023 Hepatocellular Carcinoma 100 0.138
81
P LNG032 Lung Cancer 98 0.138
82
P PRS040 Prostate Cancer 97 0.131
83
P ADN016 Adenocarcinoma 64 0.131
84
P GLM045 Glioma 63 0.131
85
GLL048 Glial Tumor 45 0.131
86
DWR001 Dwarfism 44 0.131
87
P PNC035 Pancreatic Cancer 84 0.125
88
c SML038 Small Cell Cancer of the Lung 65 0.125
89
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.125
90
P SYN140 Syndrome with 46,xy Disorder of Sex Development 23 0.125
91
P MLN008 Melanoma 69 0.110
92
GLB015 Glioblastoma Multiforme 75 0.102
93
SQM006 Squamous Cell Carcinoma 60 0.102
94
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 57 0.102
95
P BRS047 Breast Cancer 97 0.093
96
END057 Endometrial Cancer 74 0.093
97
c WLM018 Wilms Tumor 5 61 0.093
98
SPN186 Spinal Cord Injury 60 0.093
99
INS024 Insulin-Like Growth Factor I 79 0.083
100
P LNG064 Lung Cancer Susceptibility 3 78 0.083
101
SVR004 Severe Combined Immunodeficiency 73 0.083
102
EWN003 Ewing Sarcoma 69 0.083
103
P ART023 Arthropathy 62 0.083
104
P INS002 in Situ Carcinoma 53 0.083
105
c MLN055 Melanoma, Cutaneous Malignant 10 52 0.083
106
RNL114 Renal Cell Carcinoma, Nonpapillary 78 0.072
107
CRV035 Cervical Cancer 76 0.072
108
P LVR013 Liver Disease 68 0.072
109
P SKN015 Skin Carcinoma 66 0.072
110
BRR014 Barrett Esophagus 65 0.072
111
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 64 0.072
112
P INF032 Infertility 57 0.072
113
HYP266 Hypoxia 57 0.072
114
AZS001 Azoospermia 50 0.072
115
EXS001 Exostosis 46 0.072
116
ANN010 Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 25 0.072
117
c AMY091 Amyotrophic Lateral Sclerosis 1 89 0.059
118
c NRF023 Neurofibromatosis, Type Ii 80 0.059
119
P BLD134 Bladder Cancer 79 0.059
120
P RSP003 Respiratory Failure 74 0.059
121
P OST002 Osteoporosis 74 0.059
122
P NRB001 Neuroblastoma 72 0.059
123
CHL065 Cholangiocarcinoma 68 0.059
124
AND002 Androgen Insensitivity Syndrome 66 0.059
125
SRC014 Sarcoma 65 0.059
126
NRF007 Neurofibroma 64 0.059
127
OST003 Osteonecrosis 61 0.059
128
c ACT027 Acute Pancreatitis 60 0.059
129
LGG001 Legg-Calve-Perthes Disease 60 0.059
130
P BRN022 Bronchiectasis 59 0.059
131
PLM026 Pilomatrixoma 58 0.059
132
P BNC003 Bone Cancer 58 0.059
133
P NRF002 Neurofibromatosis 56 0.059
134
EMB004 Embryonal Carcinoma 56 0.059
135
P GST044 Gastritis 56 0.059
136
P LTR001 Lateral Sclerosis 54 0.059
137
PRS045 Prostatic Hypertrophy 53 0.059
138
P BRC006 Brachydactyly 53 0.059
139
P RTN016 Retinal Degeneration 53 0.059
140
SPN035 Spindle Cell Sarcoma 53 0.059
141
c TRC092 Trichorhinophalangeal Syndrome, Type I 52 0.059
142
P SPP010 Suppressor of Tumorigenicity 3 51 0.059
143
PRS021 Prostatic Adenoma 51 0.059
144
CLR109 Colorectal Adenocarcinoma 51 0.059
145
INT079 Intrahepatic Cholangiocarcinoma 51 0.059
146
CLB002 Clubfoot 51 0.059
147
P OVR082 Overgrowth Syndrome 50 0.059
148
PRS129 Prostatic Hyperplasia, Benign 49 0.059
149
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 0.059
150
P KRT005 Keratoacanthoma 48 0.059
151
c HYD064 Hydrocephalus, Congenital, 1 48 0.059
152
HLX001 Helix Syndrome 47 0.059
153
RNL077 Renal Fibrosis 47 0.059
154
SVN002 Sveinsson Chorioretinal Atrophy 46 0.059
155
CRB004 Cerebral Artery Occlusion 45 0.059
156
DYS101 Dysgerminoma 44 0.059
157
FBR054 Fibroma 44 0.059
158
CLB019 Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly 43 0.059
159
ORL015 Oral Squamous Cell Carcinoma 43 0.059
160
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 42 0.059
161
SKL017 Skeletal Dysplasias 40 0.059
162
RPD005 Rapidly Involuting Congenital Hemangioma 38 0.059
163
c TYP042 Type Ii Collagen Disorders 20 0.059
164
PRR011 Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies 14 0.059
165
P OVR042 Ovarian Cancer 88 0.042
167
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 81 0.042
168
STR067 Stroke, Ischemic 81 0.042
169
PFF001 Pfeiffer Syndrome 79 0.042
170
CRH001 Crohn's Disease 74 0.042
171
BSL036 Basal Cell Nevus Syndrome 73 0.042
172
GST040 Gastric Adenocarcinoma 70 0.042
173
P MLN066 Melanoma, Cutaneous Malignant 1 70 0.042
174
c CHR684 Chronic Kidney Disease 70 0.042
175
ART016 Aortic Aneurysm 69 0.042
176
P LYM118 Lymphoma 68 0.042
177
P CRN037 Craniosynostosis 68 0.042
178
P LKM002 Leukemia 68 0.042
179
P MSC005 Muscular Dystrophy 66 0.042
180
P NSP012 Nasopharyngeal Carcinoma 66 0.042
181
P HYD006 Hydrocephalus 66 0.042
182
c ART101 Aortic Valve Disease 2 65 0.042
183
MSC007 Muscle Hypertrophy 64 0.042
184
P RNL100 Renal Hypodysplasia/aplasia 1 63 0.042
185
SKN016 Skin Disease 63 0.042
186
P END044 Endometriosis 63 0.042
187
P THN009 Thanatophoric Dysplasia, Type I 62 0.042
188
LVR012 Liver Cirrhosis 62 0.042
189
P CRN038 Carney Complex Variant 61 0.042
190
HYP066 Hyperglycemia 61 0.042
191
ALC006 Alcoholic Hepatitis 61 0.042
192
P PNC044 Pancreatitis 61 0.042
193
LNG099 Lung Disease 60 0.042
194
P CTR002 Cataract 60 0.042
195
P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 60 0.042
196
P AXN002 Axenfeld-Rieger Syndrome 59 0.042
197
c ART138 Aortic Aneurysm, Familial Abdominal, 1 59 0.042
198
P BND020 Bone Disease 59 0.042
199
THY029 Thyroid Carcinoma 59 0.042
200
DCT002 Ductal Carcinoma in Situ 59 0.042
201
ADN018 Adenoma 59 0.042
202
HLC007 Helicobacter Pylori Infection 59 0.042
203
P PLY006 Polydactyly 59 0.042
204
ISC004 Ischemia 58 0.042
205
GLS018 Glass Syndrome 57 0.042
206
P PNL012 Penile Cancer 56 0.042
207
P MLN007 Male Infertility 55 0.042
208
JVN009 Juvenile Pilocytic Astrocytoma 55 0.042
209
P LRY044 Larynx Cancer 55 0.042
210
CLF004 Cleft Lip/palate 54 0.042
211
SYN007 Synovitis 54 0.042
212
c MLG077 Malignant Peripheral Nerve Sheath Tumor 54 0.042
213
P ART021 Arteriosclerosis 54 0.042
214
PPL022 Papilloma 54 0.042
215
ADR049 Adrenal Hypoplasia, Congenital 54 0.042
216
CLF001 Cleft Lip 53 0.042
217
P LMB006 Limb-Girdle Muscular Dystrophy 53 0.042
218
c MCR113 Microvascular Complications of Diabetes 3 52 0.042
219
P TRT010 Teratoma 52 0.042
220
NPH003 Nephrocalcinosis 51 0.042
221
OLG003 Oligohydramnios 51 0.042
222
P AST007 Astrocytoma 51 0.042
223
BLR001 Biliary Atresia 50 0.042
224
HYP748 Hypertelorism 50 0.042
225
PLP001 Pulpitis 49 0.042
226
47X002 47,xyy 49 0.042
227
SCT005 Scott Syndrome 49 0.042
228
BRN071 Brain Injury 49 0.042
229
LRN003 Learning Disability 49 0.042
230
c MCR120 Microvascular Complications of Diabetes 7 47 0.042
231
P ATM019 Autoimmune Polyendocrine Syndrome 46 0.042
232
c CRV002 Cervix Uteri Carcinoma in Situ 46 0.042
234
SQM002 Squamous Cell Papilloma 46 0.042
235
c MLG068 Malignant Glioma 46 0.042
236
c THN010 Thanatophoric Dysplasia, Type Ii 45 0.042
237
URT010 Ureteral Obstruction 45 0.042
238
CYN002 Cyanosis, Transient Neonatal 45 0.042
239
URL001 Urolithiasis 45 0.042
240
c WRD024 Waardenburg Syndrome, Type 4c 45 0.042
241
c PCH010 Pachyonychia Congenita 3 44 0.042
242
LRY018 Laryngeal Squamous Cell Carcinoma 44 0.042
243
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 44 0.042
244
P FBR003 Fibrous Histiocytoma 44 0.042
245
PLX002 Plexiform Neurofibroma 44 0.042
246
CLN044 Colon Adenoma 44 0.042
247
P HYP265 Hypotonia 43 0.042
248
CYT002 Cytokine Deficiency 42 0.042
249
c MCL066 Macular Dystrophy, Vitelliform, 2 42 0.042
250
c AVS006 Avascular Necrosis of Femoral Head, Primary, 1 42 0.042
251
c VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 42 0.042
252
c MCR130 Microvascular Complications of Diabetes 6 41 0.042
253
c MCR133 Microvascular Complications of Diabetes 4 41 0.042
254
DDN003 Duodenum Adenocarcinoma 41 0.042
255
CNN010 Connective Tissue Benign Neoplasm 40 0.042
256
P TRC031 Trichorhinophalangeal Syndrome 40 0.042
257
CTN004 Cutaneous Fibrous Histiocytoma 39 0.042
258
CRV045 Cervical Intraepithelial Neoplasia 39 0.042
259
ACN010 Acanthoma 38 0.042
260
SRT002 Sertoli Cell Tumor 38 0.042
261
TRC005 Tracheal Stenosis 38 0.042
262
CRN088 Craniorachischisis 37 0.042
263
PLC002 Plica Syndrome 36 0.042
264
HYP351 Hypertrichosis Universalis Congenita, Ambras Type 34 0.042
265
P CLR001 Clear Cell Acanthoma 34 0.042
266
TRD008 Triiodothyronine Receptor Auxiliary Protein 34 0.042
267
SYN106 Syndromic Craniosynostosis 33 0.042
268
BWN006 Bowen's Disease 32 0.042
269
PLY150 Polykaryocytosis Inducer 31 0.042
270
MLG163 Malignant Tumor of Penis 29 0.042
271
c WRD010 Waardenburg Syndrome Type 4 29 0.042
272
BRN049 Brain Tumor, Childhood 29 0.042
273
PST092 Posttransplant Acute Limbic Encephalitis 29 0.042
274
TRC110 Tracheobronchial Stenosis, Congenital 28 0.042
275
HST022 Histiocytoma, Angiomatoid Fibrous 28 0.042
276
HYP728 Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia 28 0.042
277
CHL062 Childhood Pilocytic Astrocytoma 27 0.042
278
c PRM243 Primary Bone Cancer 24 0.042
279
SML003 Small Cell Osteogenic Sarcoma 24 0.042
280
SPN359 Spondyloepimetaphyseal Dysplasia, Shohat Type 24 0.042
281
CLC064 Calcifying Aponeurotic Fibroma 23 0.042
282
TRC037 Tracheobronchomalacia 23 0.042
283
CNG092 Congenital Extrahepatic Portosystemic Shunt 23 0.042
284
c MYS019 Miyoshi Muscular Dystrophy 2 21 0.042
285
NNS042 Nonsyndromic Disorders of Testicular Development 21 0.042
286
CRT006 Cartilage Cancer 19 0.042
287
BWN005 Bowing of Long Bones Congenital 16 0.042
288
c ORF029 Orofacial Cleft 13 15 0.042
289
BRC022 Brachydactyly Anonychia 4 0.042
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