Search results for COL11A1

262 hits were found for COL11A1

# Family MCID Name MIFTS Score
1
c STC013 Stickler Syndrome, Type Ii 36 62.272
2
c FBR029 Fibrochondrogenesis 1 45 51.514
3
P STC001 Stickler Syndrome 60 48.840
4
P FBR025 Fibrochondrogenesis 55 48.641
5
MRS002 Marshall Syndrome 55 44.791
6
c DFN379 Deafness, Autosomal Dominant 37 21 31.239
7
INT146 Intervertebral Disc Disease 61 22.392
8
P MYP006 Myopia 55 21.657
9
CNN005 Connective Tissue Disease 66 19.317
10
P SNS001 Sensorineural Hearing Loss 60 17.158
11
CLF027 Cleft Palate, Isolated 64 16.676
12
P BRS047 Breast Cancer 97 15.818
13
RTN017 Retinal Detachment 60 13.684
14
MGL003 Megalocornea 47 12.902
15
HYP748 Hypertelorism 46 12.902
16
P CTR002 Cataract 59 12.632
17
PRM024 Primary Angle-Closure Glaucoma 38 11.684
18
ART016 Aortic Aneurysm 68 11.632
19
c STC015 Stickler Syndrome, Type I 50 11.319
20
TLC001 Telecanthus 34 10.792
21
c PNT032 Pontocerebellar Hypoplasia, Type 9 41 10.290
22
SPN027 Spinal Stenosis 58 10.247
23
P MLT007 Multiple Epiphyseal Dysplasia 56 9.656
24
P STR020 Strabismus 56 9.522
25
PHR008 Pharynx Squamous Cell Carcinoma 15 9.522
26
EST005 Esotropia 43 9.522
27
P ECT006 Ectodermal Dysplasia 62 9.388
28
OST015 Osteochondrodysplasia 60 8.832
29
BRT054 Brittle Bone Disorder 74 8.232
30
c OST122 Osteogenesis Imperfecta, Type Iii 57 8.043
31
c ATS076 Autosomal Recessive Stickler Syndrome 37 8.008
32
P VTR008 Vitreoretinal Degeneration 30 7.939
33
ATS292 Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome 13 7.708
34
OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 56 7.607
35
P PNT019 Pontocerebellar Hypoplasia 45 7.540
36
SPL005 Splenic Artery Aneurysm 26 7.540
37
SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 66 7.121
38
VTR002 Vitreous Syneresis 31 6.870
39
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 57 6.772
40
VTR001 Vitreoretinal Dystrophy 21 6.772
41
MCR037 Macroglossia 44 6.638
42
SCH030 Schneckenbecken Dysplasia 43 6.638
43
P ORF002 Orofacial Cleft 43 6.638
44
c ACH041 Achondrogenesis, Type Ii 54 6.638
45
P OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 52 6.638
46
KNS001 Kniest Dysplasia 50 6.638
47
CLF028 Cleft Soft Palate 38 6.638
48
P ACH011 Achondrogenesis 53 6.638
49
KHL001 Kohler's Disease 31 6.638
50
RTN002 Retinal Perforation 37 6.638
51
FND002 Fundus Dystrophy 54 6.638
52
LNG039 Lung Squamous Cell Carcinoma 57 4.147
53
ESP021 Esophageal Cancer 84 3.720
54
LNG012 Lung Occult Squamous Cell Carcinoma 20 3.509
55
LNG007 Lung Mixed Small Cell and Squamous Cell Carcinoma 20 3.509
56
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 3.472
57
P OVR042 Ovarian Cancer 88 2.923
58
P LNG021 Lung Occult Small Cell Carcinoma 20 2.553
59
LNG019 Lung Combined Type Small Cell Carcinoma 34 2.553
60
LNG111 Lung Non-Squamous Non-Small Cell Carcinoma 56 2.553
61
ESP027 Esophagus Squamous Cell Carcinoma 45 2.407
62
P PNC035 Pancreatic Cancer 87 2.347
63
OST012 Osteoarthritis 77 2.333
64
SQM013 Squamous Cell Carcinoma, Head and Neck 75 2.252
65
INT323 Intraocular Pressure Quantitative Trait Locus 63 2.228
66
P LNG032 Lung Cancer 98 2.188
67
P BLD134 Bladder Cancer 79 2.135
68
BRS099 Breast Ductal Carcinoma 61 1.957
69
BLD173 Bladder Small Cell Carcinoma 44 1.903
70
c SML038 Small Cell Cancer of the Lung 68 1.881
71
c BRN108 Branchiootic Syndrome 1 63 1.759
72
P GST053 Gastric Cancer 82 1.630
73
P ADN016 Adenocarcinoma 63 1.575
74
PNC041 Pancreatic Ductal Adenocarcinoma 51 1.521
75
P CLR023 Colorectal Cancer 100 1.466
76
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 1.448
77
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 58 1.404
78
P NNS072 Nonsyndromic Hearing Loss 42 1.391
79
c NNS007 Nonsyndromic Deafness 36 1.370
80
P SCL018 Scoliosis 57 1.246
81
CLN015 Colon Adenocarcinoma 64 1.114
82
HMN044 Human Immunodeficiency Virus Type 1 76 1.093
83
ADN018 Adenoma 58 1.093
84
HLX001 Helix Syndrome 47 1.071
85
DGN001 Degenerative Disc Disease 48 1.071
86
VTR003 Vitreous Detachment 41 1.071
87
ISL075 Isolated Pierre Robin Sequence 29 1.048
88
PLM134 Pulmonary Fibrosis, Idiopathic 76 1.024
89
P SYS005 Systemic Scleroderma 73 1.024
90
P PLM036 Pulmonary Fibrosis 65 1.024
91
DVR002 Diverticulitis 46 1.024
92
P BRC006 Brachydactyly 52 0.998
93
SVR004 Severe Combined Immunodeficiency 70 0.969
94
47X002 47,xyy 47 0.969
95
P LTH050 Lethal Chondrodysplasia 14 0.969
96
CLR109 Colorectal Adenocarcinoma 50 0.937
97
P PNC044 Pancreatitis 61 0.937
98
AST006 Astigmatism 46 0.902
99
OST024 Osteoporosis-Pseudoglioma Syndrome 60 0.902
100
PNC129 Pancreatic Adenocarcinoma 64 0.902
101
P HYP265 Hypotonia 42 0.902
102
P PRR016 Pierre Robin Syndrome 50 0.859
103
NRD100 Neurodevelopmental, Jaw, Eye, and Digital Syndrome 50 0.859
104
SPN019 Spondylolisthesis 51 0.803
105
OST016 Osteochondrosis 52 0.803
106
P LNG064 Lung Cancer Susceptibility 3 69 0.661
107
DCT002 Ductal Carcinoma in Situ 58 0.568
108
SQM006 Squamous Cell Carcinoma 59 0.568
109
P INS002 in Situ Carcinoma 52 0.568
110
MYL005 Myelofibrosis 70 0.504
111
c MST023 Mesothelioma, Malignant 56 0.504
112
MLG079 Malignant Pleural Mesothelioma 42 0.504
113
P ART023 Arthropathy 59 0.424
114
RNL114 Renal Cell Carcinoma, Nonpapillary 79 0.402
115
WGN003 Wagner Syndrome 31 0.402
116
P EHL001 Ehlers-Danlos Syndrome 57 0.379
117
P PLY014 Polycystic Kidney Disease 71 0.333
118
CLR108 Colorectal Adenoma 63 0.333
119
P CRP001 Carpal Tunnel Syndrome 65 0.328
120
P RTN018 Retinal Disease 53 0.328
121
P SCL048 Sclerosteosis 58 0.300
122
TND004 Tendinopathy 45 0.300
123
TND005 Tendinitis 53 0.300
124
STC017 Stickler Syndrome, Type I, Nonsyndromic Ocular 28 0.300
125
INT016 Intraductal Papilloma 35 0.300
126
PPL022 Papilloma 53 0.300
127
SQM002 Squamous Cell Papilloma 45 0.300
128
P KDN017 Kidney Cancer 60 0.300
129
TYP042 Type Ii Collagen Disorders 21 0.300
130
P CLS054 Classic Ehlers-Danlos Syndrome 57 0.300
131
P VTR007 Vitreoretinopathy 45 0.300
132
KSH004 Kashin-Beck Disease 37 0.268
133
P ORT004 Orthostatic Intolerance 61 0.268
134
BRS051 Breast Disease 58 0.268
135
P CRN276 Corneal Endothelial Dystrophy 52 0.232
136
HRT038 Heart, Malformation of 37 0.232
137
VTR018 Vitreoretinal Degeneration, Snowflake Type 38 0.232
138
c FBR030 Fibrochondrogenesis 2 26 0.232
139
P HRT032 Heart Disease 84 0.232
140
CYS002 Cystic Lymphangioma 45 0.232
141
P NGH001 Night Blindness 52 0.232
142
HYG001 Hygroma Cervical 16 0.232
143
RFR003 Refractive Error 41 0.232
144
THY029 Thyroid Carcinoma 55 0.232
145
PSD012 Pseudoachondroplasia 58 0.189
146
P RHM011 Rheumatoid Arthritis 81 0.189
147
ACH004 Achondroplasia 65 0.189
148
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 58 0.189
149
c GLC092 Glaucoma, Primary Open Angle 60 0.189
150
OST159 Osteogenic Sarcoma 66 0.189
151
c MYP138 Myopia 3, Autosomal Dominant 24 0.189
152
P SML001 Small Cell Carcinoma 52 0.189
153
c THY109 Thyroid Cancer, Nonmedullary, 1 55 0.189
154
c MYP127 Myopia 2, Autosomal Dominant 26 0.189
155
P MLN069 Melanoma, Uveal 59 0.189
156
FRY006 Fryns Microphthalmia Syndrome 52 0.189
157
BNR002 Bone Resorption Disease 47 0.189
158
INT030 Intracranial Aneurysm 55 0.189
159
c LRG001 Large Cell Carcinoma 48 0.189
160
CKT002 Cakut 48 0.189
161
P LNG035 Lung Large Cell Carcinoma 53 0.189
162
ESP025 Esophagus Adenocarcinoma 37 0.189
163
MCR013 Microphthalmia 59 0.189
164
P OPN001 Open-Angle Glaucoma 55 0.189
165
P MLN008 Melanoma 75 0.189
166
P ART022 Arthritis 70 0.189
167
BCK006 Back Pain 43 0.189
168
c BCT007 Bacterial Meningitis 55 0.189
169
P MNN013 Meningitis 65 0.189
170
ANR040 Aneurysm 60 0.189
171
HYP706 Hypermobile Ehlers-Danlos Syndrome 54 0.189
172
PNM013 Pneumococcal Meningitis 43 0.189
173
RNL078 Renal Dysplasia 46 0.189
174
MCR103 Microtia 40 0.189
175
P CHR345 Chronic Pain 50 0.189
176
IDP070 Idiopathic Scoliosis 41 0.134
177
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 0.134
178
PRT251 Proteinuria, Chronic Benign 58 0.134
179
P STR022 Stargardt Disease 61 0.134
180
ALV005 Alveolar Soft Part Sarcoma 61 0.134
181
APR006 Apert Syndrome 69 0.134
182
DNN002 Donnai-Barrow Syndrome 55 0.134
183
P OST002 Osteoporosis 76 0.134
184
P SCL057 Scoliosis, Isolated 1 40 0.134
185
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 79 0.134
186
c EPP017 Epiphyseal Dysplasia, Multiple, 1 48 0.134
187
c STR084 Stargardt Disease 1 54 0.134
188
c EPP014 Epiphyseal Dysplasia, Multiple, 4 45 0.134
189
c ART138 Aortic Aneurysm, Familial Abdominal, 1 60 0.134
190
SPN030 Spondyloepimetaphyseal Dysplasia, Missouri Type 42 0.134
192
c BNM018 Bone Mineral Density Quantitative Trait Locus 3 33 0.134
193
ATS010 Autosomal Recessive Disease 42 0.134
194
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 0.134
195
ANG020 Angiosarcoma 63 0.134
196
VTR010 Vitreoretinochoroidopathy 49 0.134
197
c TRC092 Trichorhinophalangeal Syndrome, Type I 54 0.134
198
ENH001 Enhanced S-Cone Syndrome 58 0.134
199
c EPP012 Epiphyseal Dysplasia, Multiple, 2 42 0.134
200
P LKM062 Leukemia, Acute Lymphoblastic 69 0.134
201
c STC012 Stickler Syndrome, Type Iv 23 0.134
202
CHR222 Chromosome 1p36 Deletion Syndrome 48 0.134
203
MRF001 Marfan Syndrome 76 0.134
204
c OPT053 Optic Atrophy 1 62 0.134
205
GNT026 Gnathodiaphyseal Dysplasia 46 0.134
206
WGN007 Wagner Vitreoretinopathy 34 0.134
207
P ATT013 Attention Deficit-Hyperactivity Disorder 65 0.134
208
P TRC072 Treacher Collins Syndrome 1 62 0.134
209
P HPT023 Hepatocellular Carcinoma 95 0.134
210
DFN366 Deafness, Autosomal Recessive 32, with or Without Immotile Sperm 23 0.134
211
END057 Endometrial Cancer 76 0.134
212
P MTP001 Metaphyseal Dysplasia 38 0.134
213
SPN250 Spondyloepimetaphyseal Dysplasia 36 0.134
214
OST017 Osteomyelitis 63 0.134
215
THY121 Thyroid Gland Anaplastic Carcinoma 66 0.134
216
P MCL001 Mucolipidosis 49 0.134
217
P PNB001 Pineoblastoma 49 0.134
218
P RCT021 Rectum Cancer 54 0.134
219
P LKM002 Leukemia 65 0.134
220
P CRN037 Craniosynostosis 67 0.134
221
KRT009 Keratosis 52 0.134
222
c BRD017 Bardet-Biedl Syndrome 5 38 0.134
223
c ATS409 Autosomal Recessive Nonsyndromic Deafness 32 23 0.134
224
P ISL078 Isolated Ectopia Lentis 58 0.134
225
LVR012 Liver Cirrhosis 62 0.134
226
PNL014 Pineal Gland Cancer 40 0.134
227
CLR030 Clear Cell Renal Cell Carcinoma 53 0.134
228
P EYD002 Eye Disease 57 0.134
229
CMP010 Complex Regional Pain Syndrome 59 0.134
230
THY020 Thyroid Hyalinizing Trabecular Adenoma 19 0.134
231
MNC001 Monocular Esotropia 30 0.134
232
SYN007 Synovitis 54 0.134
233
CHR033 Chordoid Glioma 32 0.134
234
HGH043 High Grade Glioma 46 0.134
235
c GM1007 Gm1 Gangliosidosis 65 0.134
236
P SKN015 Skin Carcinoma 71 0.134
237
PLC002 Plica Syndrome 35 0.134
238
KHN001 Kuhnt-Junius Degeneration 48 0.134
239
MCR011 Microinvasive Gastric Cancer 41 0.134
240
P WRD001 Waardenburg's Syndrome 60 0.134
241
SCT002 Scotoma 42 0.134
242
CLF001 Cleft Lip 54 0.134
243
MCH006 Mechanical Strabismus 40 0.134
244
P BCL017 B-Cell Lymphoma 57 0.134
245
GLM045 Glioma 62 0.134
246
48X005 48,xyyy 39 0.134
247
DPH010 Diaphragmatic Hernia Exomphalos Corpus Callosum Agenesis 8 0.134
248
TCL008 T-Cell Lymphoma 1a 18 0.134
250
SBM006 Submucosal Cleft Palate 14 0.134
251
PPL050 Papillary Tumor of the Pineal Region 32 0.134
252
P ACT008 Actinic Keratosis 53 0.134
253
CTR027 Cataract-Glaucoma 21 0.134
254
OVR094 Ovarian Epithelial Cancer 39 0.134
255
PNC056 Pineocytoma 44 0.134
256
DWR001 Dwarfism 44 0.134
257
P GNG009 Gangliosidosis 44 0.134
258
P HDC001 Headache 56 0.134
259
HYP266 Hypoxia 56 0.134
260
CLF004 Cleft Lip/palate 56 0.134
261
GLL048 Glial Tumor 51 0.134
262
ATS252 Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb 42 0.134
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