Search results for col1a1

222 hits were found for col1a1

# Family MCID Name MIFTS Score
1
c OST135 Osteogenesis Imperfecta, Type I 56 6.423
2
CFF003 Caffey Disease 54 5.567
3
P OST002 Osteoporosis 74 5.116
4
P OST122 Osteogenesis Imperfecta, Type Iii 57 4.643
5
c OST080 Osteogenesis Imperfecta, Type Ii 55 4.356
6
BRT054 Brittle Bone Disorder 70 4.227
7
c OST121 Osteogenesis Imperfecta, Type Iv 49 4.181
8
c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 36 3.537
9
P EHL001 Ehlers-Danlos Syndrome 57 3.533
10
P DNT011 Dentinogenesis Imperfecta 48 3.533
11
DRM014 Dermatofibrosarcoma Protuberans 66 3.471
12
c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 51 3.141
13
P CLS054 Classic Ehlers-Danlos Syndrome 54 2.815
14
HYP068 Hyperostosis 48 2.815
15
P MYP006 Myopia 55 2.518
16
P OTS001 Otosclerosis 50 2.518
17
P SCL018 Scoliosis 60 2.429
18
CNN005 Connective Tissue Disease 67 2.405
19
P PLM036 Pulmonary Fibrosis 62 2.391
20
P BND020 Bone Disease 60 2.142
21
HYP706 Hypermobile Ehlers-Danlos Syndrome 54 2.118
22
HYP748 Hypertelorism 50 1.991
23
HGH023 High Bone Mass Osteogenesis Imperfecta 25 1.969
24
ING001 Inguinal Hernia 61 1.944
25
P FBR017 Fibrosarcoma 57 1.944
26
RHM027 Rheumatic Disease 56 1.944
27
SKN013 Skin Benign Neoplasm 49 1.944
28
P BRC015 Bruck Syndrome 47 1.944
29
MYS001 Myositis Ossificans 40 1.944
30
c DLT002 Dilated Cardiomyopathy 80 1.914
31
PFF001 Pfeiffer Syndrome 80 1.914
32
PHN003 Phenylketonuria 76 1.914
33
MRF001 Marfan Syndrome 76 1.914
34
P TTR001 Tetralogy of Fallot 70 1.914
35
P ALP004 Alport Syndrome 69 1.914
36
CRP001 Carpal Tunnel Syndrome 67 1.914
37
ACH004 Achondroplasia 67 1.914
38
c LCL006 Localized Scleroderma 62 1.914
39
SPN027 Spinal Stenosis 59 1.914
40
P BNC003 Bone Cancer 58 1.914
41
P VNB005 Van Buchem Disease 56 1.914
42
ORL004 Oral Submucous Fibrosis 55 1.914
43
P SCL048 Sclerosteosis 54 1.914
44
c OST164 Osteoporosis, Juvenile 53 1.914
45
PLM021 Pilomyxoid Astrocytoma 43 1.914
46
TYM001 Tympanosclerosis 39 1.914
47
c XLN231 X-Linked Alport Syndrome 33 1.914
48
CL1007 Col1a1/2 Osteogenesis Imperfecta 29 1.554
49
c OST124 Osteogenesis Imperfecta, Type V 43 1.506
50
c OST119 Osteogenesis Imperfecta, Type Vii 48 1.488
51
c OST132 Osteogenesis Imperfecta, Type Vi 46 1.488
52
c SCL052 Scleroderma, Familial Progressive 63 1.446
53
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 49 1.446
54
c RRD009 Rare Disease with Dentinogenesis Imperfecta 7 1.446
55
PLM134 Pulmonary Fibrosis, Idiopathic 76 1.392
56
c AXN010 Axenfeld-Rieger Syndrome, Type 3 50 1.392
57
BNR002 Bone Resorption Disease 49 1.392
58
P SYR001 Syringomyelia 46 1.392
59
P RNG032 Ring Chromosome 42 1.392
60
GNT026 Gnathodiaphyseal Dysplasia 42 1.392
61
HYP007 Hypermobility Syndrome 37 1.392
62
BDN002 Bednar Tumor 24 1.392
63
EHL036 Ehlers-Danlos/osteogenesis Imperfecta Syndrome 20 1.392
64
ODN023 Odontochondrodysplasia 61 1.354
65
c SPS215 Spastic Paraplegia 3, Autosomal Dominant 60 1.354
66
P PLV020 Pelvic Organ Prolapse 59 1.354
67
P STC001 Stickler Syndrome 57 1.354
68
FRZ001 Frozen Shoulder 52 1.354
69
P CLL015 Collagen Disease 43 1.354
70
SYN031 Synovial Chondromatosis 42 1.354
71
DFF003 Diffuse Scleroderma 42 1.354
72
P DNT009 Dentin Dysplasia 42 1.354
73
P CLC057 Cole-Carpenter Syndrome 40 1.354
74
LPD014 Lipodermatosclerosis 39 1.354
75
c LRS002 Larsen-Like Syndrome 38 1.354
76
PSD016 Pseudosarcomatous Fibromatosis 37 1.354
77
PLN003 Plantar Fascial Fibromatosis 35 1.354
78
c RNG020 Ring Chromosome 4 34 1.354
79
P BND014 Bone Development Disease 32 1.354
80
GLF001 Gliofibroma 31 1.354
81
BNR001 Bone Remodeling Disease 29 1.354
82
c TYP003 Type I Ehlers-Danlos Syndrome 26 1.354
83
SKN021 Skin Sarcoma 26 1.354
84
P DRM012 Dermis Tumor 26 1.354
85
BNS002 Bone Structure Disease 25 1.354
86
FBR010 Fibrogenesis Imperfecta Ossium 25 1.354
87
FBR007 Fibroosseous Pseudotumor of Digits 12 1.354
88
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 0.207
89
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 42 0.207
90
c OST118 Osteogenesis Imperfecta, Type Viii 41 0.123
91
P GST053 Gastric Cancer 84 0.114
92
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 56 0.114
93
c OST110 Osteogenesis Imperfecta, Type Xv 39 0.114
94
c BNM018 Bone Mineral Density Quantitative Trait Locus 3 33 0.114
95
c OST123 Osteogenesis Imperfecta, Type Xiii 33 0.114
96
c OST109 Osteogenesis Imperfecta, Type Xiv 32 0.114
97
c OST133 Osteogenesis Imperfecta, Type Xi 40 0.104
98
c OST130 Osteogenesis Imperfecta, Type Ix 35 0.104
99
c OST128 Osteogenesis Imperfecta, Type Xii 35 0.104
100
c OST127 Osteogenesis Imperfecta, Type X 33 0.104
101
c OST139 Osteogenesis Imperfecta, Type Xvi 31 0.104
102
c OST138 Osteogenesis Imperfecta, Type Xvii 29 0.104
103
c OST169 Osteogenesis Imperfecta, Type Xviii 25 0.104
104
c OST170 Osteogenesis Imperfecta, Type Xix 23 0.104
105
c OST176 Osteogenesis Imperfecta, Type Xx 21 0.104
106
FML089 Familial Thoracic Aortic Aneurysm and Dissection 67 0.093
107
HLX001 Helix Syndrome 48 0.093
108
SKL017 Skeletal Dysplasias 40 0.093
109
P CLR023 Colorectal Cancer 99 0.080
110
P SYS005 Systemic Scleroderma 70 0.080
111
ANR009 Aneurysmal Bone Cysts 43 0.080
112
P LNG032 Lung Cancer 98 0.066
113
P PRS040 Prostate Cancer 98 0.066
114
P PNC035 Pancreatic Cancer 85 0.066
115
OST012 Osteoarthritis 78 0.066
116
MSC157 Muscular Dystrophy, Duchenne Type 72 0.066
117
P LKM062 Leukemia, Acute Lymphoblastic 69 0.066
118
P NSP012 Nasopharyngeal Carcinoma 67 0.066
119
OST159 Osteogenic Sarcoma 67 0.066
120
IDP011 Idiopathic Interstitial Pneumonia 64 0.066
121
c BRN108 Branchiootic Syndrome 1 61 0.066
122
SCH014 Schistosomiasis 57 0.066
123
EHL052 Ehlers-Danlos Syndrome, Vascular Type 57 0.066
124
P LYM031 Lymphocytic Leukemia 55 0.066
125
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.066
126
DGN001 Degenerative Disc Disease 48 0.066
127
P HYP265 Hypotonia 42 0.066
128
EPC002 Epicondylitis 42 0.066
129
SCH060 Schistosoma Mansoni Infection, Susceptibility/ 39 0.066
130
P BRS047 Breast Cancer 97 0.046
131
c SYS001 Systemic Lupus Erythematosus 87 0.046
132
P RHM011 Rheumatoid Arthritis 81 0.046
133
P LNG064 Lung Cancer Susceptibility 3 78 0.046
134
CRV035 Cervical Cancer 76 0.046
135
CRH001 Crohn's Disease 75 0.046
136
PLM129 Pulmonary Disease, Chronic Obstructive 74 0.046
137
P RTN024 Retinoblastoma 73 0.046
138
P NRB001 Neuroblastoma 72 0.046
139
DWN001 Down Syndrome 71 0.046
140
P HYP086 Hypothyroidism 69 0.046
141
RCK004 Rickets 69 0.046
142
P HLP001 Holoprosencephaly 69 0.046
143
c JVN010 Juvenile Rheumatoid Arthritis 67 0.046
144
c SML038 Small Cell Cancer of the Lung 66 0.046
145
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 65 0.046
146
P HRP006 Herpes Simplex 65 0.046
147
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.046
148
LVR012 Liver Cirrhosis 64 0.046
149
LSH001 Leishmaniasis 64 0.046
150
P ORT004 Orthostatic Intolerance 63 0.046
151
LPD008 Lipid Metabolism Disorder 63 0.046
152
INT146 Intervertebral Disc Disease 63 0.046
153
INT323 Intraocular Pressure Quantitative Trait Locus 63 0.046
154
ALC006 Alcoholic Hepatitis 62 0.046
155
CTN007 Cutaneous Leishmaniasis 62 0.046
156
TTH002 Tooth Agenesis 62 0.046
157
OST003 Osteonecrosis 61 0.046
158
LNG099 Lung Disease 61 0.046
159
P SNS001 Sensorineural Hearing Loss 61 0.046
160
MSL001 Measles 61 0.046
161
RTN017 Retinal Detachment 60 0.046
162
SQM006 Squamous Cell Carcinoma 60 0.046
163
P PLY014 Polycystic Kidney Disease 60 0.046
164
ANR040 Aneurysm 59 0.046
165
CNS004 Constipation 58 0.046
166
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 57 0.046
167
HYP266 Hypoxia 57 0.046
168
c ACT075 Acute Myocardial Infarction 57 0.046
169
LMY014 Leiomyoma, Uterine 56 0.046
170
AGN016 Aging 56 0.046
171
P MYS005 Myositis 56 0.046
172
P MCR010 Microcephaly 55 0.046
173
P HYP730 Hypogonadotropic Hypogonadism 53 0.046
174
c FML008 Familial Retinoblastoma 53 0.046
175
P HYP083 Hypopituitarism 53 0.046
176
TND005 Tendinitis 52 0.046
177
P BSL038 Basal Ganglia Calcification, Idiopathic, 1 52 0.046
178
P TRT010 Teratoma 52 0.046
179
PTT041 Pituitary Stalk Interruption Syndrome 51 0.046
180
LMY002 Leiomyoma 51 0.046
181
P AST007 Astrocytoma 50 0.046
182
HYP080 Hypogonadism 50 0.046
183
LRN003 Learning Disability 49 0.046
184
CLB002 Clubfoot 48 0.046
185
HST009 Histiocytoma 47 0.046
186
EXS001 Exostosis 47 0.046
187
CLB019 Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly 44 0.046
188
DWR001 Dwarfism 44 0.046
189
c PRM032 Primary Congenital Glaucoma 44 0.046
190
ORL015 Oral Squamous Cell Carcinoma 43 0.046
191
GRW007 Growth Hormone Deficiency 43 0.046
192
MCR011 Microinvasive Gastric Cancer 43 0.046
193
TND004 Tendinopathy 43 0.046
194
MYF001 Myofibroma 42 0.046
195
P KLZ004 Kala-Azar 1 42 0.046
196
PLG004 Plagiocephaly 41 0.046
197
CTN004 Cutaneous Fibrous Histiocytoma 41 0.046
198
FBR003 Fibrous Histiocytoma 41 0.046
199
HYP064 Hypogonadotropism 41 0.046
200
KLD004 Keloid Disorder 40 0.046
201
ENT001 Enterocele 39 0.046
202
BKS003 Beukes Hip Dysplasia 38 0.046
203
SYR010 Syringomyelia, Noncommunicating Isolated 37 0.046
204
OST006 Osteoblastoma 35 0.046
205
PCT001 Pectus Carinatum 35 0.046
206
c CNT101 Central Congenital Hypothyroidism 34 0.046
207
TRC118 Trichodentoosseous Syndrome 33 0.046
208
TQP001 Taqi Polymorphism 33 0.046
209
TRD003 Taurodontism 32 0.046
210
EHL061 Ehlers-Danlos Syndrome, Cardiac Valvular Type 32 0.046
211
c EHL087 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 31 0.046
212
PLY150 Polykaryocytosis Inducer 31 0.046
213
c OTS005 Otosclerosis 1 29 0.046
214
c MTR080 Mitral Valve Prolapse 1 29 0.046
215
RRD056 Rare Disease in Surgical Orthopedic 28 0.046
216
c ERL012 Early-Onset Glaucoma 27 0.046
217
c MYP127 Myopia 2, Autosomal Dominant 24 0.046
218
c RNG021 Ring Chromosome 5 23 0.046
219
c HRD211 Hereditary Dentin Defect 12 0.046
220
c OBS841 Obsolete: Ehlers-Danlos Syndrome Type 7a 8 0.046
221
RRG015 Rare Genetic Bone Disease 8 0.046
222
c OBS842 Obsolete: Ehlers-Danlos Syndrome Type 7b 7 0.046
Content
Loading form....