Search results for Keratan

376 hits were found for Keratan

# Family MCID Name MIFTS Score
1
MCL075 Macular Dystrophy, Corneal 55 11.704
2
P MCP040 Mucopolysaccharidosis-Plus Syndrome 70 8.959
3
P CRN025 Corneal Dystrophy 49 8.710
4
c MCP047 Mucopolysaccharidosis, Type Iva 62 7.636
5
OST012 Osteoarthritis 77 6.489
6
P CHN012 Chondrosarcoma 57 5.924
7
P MRQ003 Morquio Syndrome 35 5.785
8
P GNG009 Gangliosidosis 44 5.348
9
c MCP004 Mucopolysaccharidosis Iv 61 5.228
10
P ART023 Arthropathy 61 5.076
11
MCP033 Mucopolysaccharidoses 44 4.696
12
c GM1007 Gm1 Gangliosidosis 65 4.469
13
c MCP048 Mucopolysaccharidosis, Type Ivb 52 4.134
14
P KRT007 Keratoconus 50 4.096
15
LYS002 Lysosomal Storage Disease 51 3.891
16
ATS010 Autosomal Recessive Disease 42 3.740
17
KNS001 Kniest Dysplasia 51 3.625
18
P ART022 Arthritis 71 3.487
19
PLC002 Plica Syndrome 35 3.389
20
SYN007 Synovitis 55 3.389
21
P CRN024 Corneal Disease 44 3.336
22
EMB004 Embryonal Carcinoma 56 3.306
23
RPD005 Rapidly Involuting Congenital Hemangioma 46 3.118
24
SPN186 Spinal Cord Injury 61 3.114
25
SPN051 Spondylitis 51 2.970
26
INF009 Inflammatory Spondylopathy 30 2.970
27
OST016 Osteochondrosis 52 2.673
28
P TYS001 Tay-Sachs Disease 69 2.667
29
SND001 Sandhoff Disease 66 2.592
30
SPT004 Septic Arthritis 58 2.555
31
LYS030 Lysosomal Storage Disease with Skeletal Involvement 15 2.493
32
DYS018 Dysostosis 44 2.493
33
ARG004 Argyria 26 2.474
34
DWR001 Dwarfism 44 2.429
35
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 80 2.399
36
47X002 47,xyy 48 2.399
37
MRF001 Marfan Syndrome 76 2.363
38
FCS002 Fucosidosis 62 2.340
39
P MCL001 Mucolipidosis 49 2.340
40
c SPN225 Spondyloarthropathy 1 70 2.320
41
BRN071 Brain Injury 50 2.320
42
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 2.294
43
P SCL018 Scoliosis 57 2.294
44
MRQ002 Morquio Syndrome C 13 2.253
45
BNR002 Bone Resorption Disease 47 2.222
46
GLC012 Galactosialidosis 56 2.141
47
c GM1004 Gm1-Gangliosidosis, Type I 58 2.115
48
P CRN233 Corneal Dystrophy, Fuchs Endothelial, 1 36 2.068
49
FCH001 Fuchs' Endothelial Dystrophy 50 2.068
50
c MCP046 Mucopolysaccharidosis, Type Iiid 50 1.985
51
LMY002 Leiomyoma 51 1.896
52
GLB002 Glioblastoma 67 1.896
53
BRS051 Breast Disease 58 1.896
54
ALL014 Allergic Encephalomyelitis 34 1.895
55
MNN047 Mannosidosis, Alpha B, Lysosomal 67 1.833
56
VCC001 Vaccinia 47 1.800
57
CHL014 Cholera 62 1.800
58
KRT008 Keratopathy 46 1.756
59
c AMY091 Amyotrophic Lateral Sclerosis 1 88 1.702
60
c GLY008 Glycogen Storage Disease Ii 72 1.702
61
CRT017 Cartilage Disease 53 1.702
62
P LTR001 Lateral Sclerosis 58 1.702
63
ATM095 Autoimmune Disease 61 1.696
64
EXS001 Exostosis 49 1.696
65
P OST001 Osteopetrosis 71 1.696
66
c MCP050 Mucopolysaccharidosis, Type Ii 74 1.687
67
P ALZ034 Alzheimer Disease 87 1.581
68
THY122 Thyroid Gland Cancer 59 1.581
69
PPL002 Papillary Carcinoma 46 1.581
70
P EPL003 Epulis 30 1.581
71
CNG004 Congenital Epulis 30 1.581
72
P GLM007 Glomerulonephritis 60 1.581
73
P SCL047 Sclerocornea 32 1.581
74
STT001 Status Epilepticus 59 1.581
75
c JVN010 Juvenile Rheumatoid Arthritis 66 1.581
76
NRF007 Neurofibroma 64 1.581
77
MCL022 Mucolipidoses 33 1.581
78
CYT002 Cytokine Deficiency 43 1.581
79
ASP002 Aspartylglucosaminuria 58 1.547
80
PLM129 Pulmonary Disease, Chronic Obstructive 74 1.547
81
GT001 Gout 64 1.547
82
RCT015 Reactive Arthritis 61 1.547
83
GLY031 Glycoproteinosis 49 1.547
85
WLL004 Wallerian Degeneration 38 1.547
86
ODN022 Odontoid Hypoplasia 17 1.540
87
HRL003 Hurler Syndrome 66 1.461
88
PCT001 Pectus Carinatum 33 1.461
89
INS024 Insulin-Like Growth Factor I 78 1.451
90
P PNC035 Pancreatic Cancer 86 1.451
91
c KRT041 Keratoconus 4 14 1.451
92
P GLM040 Glioma Susceptibility 1 71 1.451
93
P HLP001 Holoprosencephaly 69 1.451
94
END086 End Stage Renal Disease 52 1.451
95
MLG169 Malignant Astrocytoma 57 1.451
96
CHN011 Chondromalacia 37 1.451
97
P CHN059 Chondrocalcinosis 52 1.451
98
c GM2006 Gm2 Gangliosidosis 46 1.451
99
PLL009 Pellucid Marginal Degeneration 21 1.451
100
SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 66 1.377
101
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 1.296
102
c GM1005 Gm1-Gangliosidosis, Type Ii 49 1.296
103
ODN023 Odontochondrodysplasia 67 1.296
104
HYP066 Hyperglycemia 61 1.296
105
DFF016 Diffuse Astrocytoma 45 1.296
106
RCK004 Rickets 68 1.296
107
P GLL022 Guillain-Barre Syndrome 60 1.296
108
CLN015 Colon Adenocarcinoma 65 1.296
109
P TRT010 Teratoma 51 1.296
110
ENT004 Enthesopathy 51 1.296
111
P OTS001 Otosclerosis 49 1.288
112
CHN010 Chondroma 43 1.288
113
ENC014 Enchondroma 28 1.288
114
PTR032 Peters-Plus Syndrome 63 1.193
115
IDP070 Idiopathic Scoliosis 42 1.193
116
P OST028 Osteochondroma 45 1.193
117
LBR025 Lobar Holoprosencephaly 47 1.094
118
MTT002 Metatropic Dysplasia 49 1.094
119
BRK010 Burkitt Lymphoma 66 1.094
120
c THY109 Thyroid Cancer, Nonmedullary, 1 55 1.094
121
THY029 Thyroid Carcinoma 51 1.094
122
SMN007 Seminoma 42 1.094
123
FBR047 Fibromyalgia 58 1.094
124
NRT004 Neuritis 53 1.094
125
P PLY019 Polyneuropathy 52 1.094
126
IDP069 Idiopathic Avascular Necrosis 23 1.089
127
MYX005 Myxoid Liposarcoma 65 1.089
128
INT323 Intraocular Pressure Quantitative Trait Locus 64 1.089
129
STR086 Stromal Dystrophy 26 1.089
130
TRT001 Teratocarcinoma 42 1.089
131
EXT012 Extraskeletal Chondroma 17 1.089
132
P OST009 Osteochondritis Dissecans 62 1.089
133
P MSN005 Mesenchymal Chondrosarcoma 47 1.089
134
P LPS002 Liposarcoma 64 1.089
135
c MCP052 Mucopolysaccharidosis, Type Vi 67 0.974
136
AGN016 Aging 54 0.974
137
BRT054 Brittle Bone Disorder 74 0.974
138
TND005 Tendinitis 54 0.974
139
LMY014 Leiomyoma, Uterine 56 0.974
140
CHR072 Chordoma 57 0.974
141
DWN001 Down Syndrome 70 0.974
142
P ANR048 Aniridia 1 64 0.974
143
ADN011 Adenoid Cystic Carcinoma 68 0.974
144
P AMY004 Amyloidosis 70 0.974
145
PLM014 Pleomorphic Adenoma 51 0.974
146
DGN001 Degenerative Disc Disease 49 0.974
147
ADN018 Adenoma 59 0.974
148
OST003 Osteonecrosis 61 0.974
149
MYM001 Myoma 54 0.974
150
P BND020 Bone Disease 59 0.974
151
c MCP001 Mucopolysaccharidosis Iii 69 0.974
153
c MCP051 Mucopolysaccharidosis, Type Ix 39 0.853
154
P CNG436 Congenital Disorder of Deglycosylation 51 0.853
155
P LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 52 0.844
156
P RHM011 Rheumatoid Arthritis 82 0.844
157
CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 61 0.844
158
P CRP001 Carpal Tunnel Syndrome 66 0.844
159
KRT019 Keratitis, Hereditary 66 0.844
160
OST159 Osteogenic Sarcoma 66 0.844
161
P CRN249 Cornea Plana 30 0.844
162
P LTT001 Lattice Corneal Dystrophy 31 0.844
163
EXT007 Extracutaneous Mastocytoma 38 0.844
164
P DYS154 Dystonia 64 0.844
165
MST004 Mast Cell Neoplasm 42 0.844
166
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.844
167
P SNS001 Sensorineural Hearing Loss 59 0.844
168
GRN055 Granular Corneal Dystrophy 37 0.844
169
P DDN001 Duodenal Ulcer 53 0.844
170
P TBR001 Tuberous Sclerosis 69 0.844
171
MCR013 Microphthalmia 60 0.844
173
48X005 48,xyyy 39 0.844
174
BCK006 Back Pain 47 0.844
175
SKL017 Skeletal Dysplasias 41 0.689
176
LYS029 Lysosomal Disease 30 0.689
177
ATX038 Ataxia and Polyneuropathy, Adult-Onset 46 0.689
178
MLT135 Multiple Sulfatase Deficiency 53 0.689
179
c MCL062 Mucolipidosis Ii Alpha/beta 68 0.689
180
P RTN008 Retinitis Pigmentosa 80 0.689
181
SCH018 Schizencephaly 52 0.689
182
ONC007 Oncocytoma 50 0.689
183
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 59 0.689
184
P LSS002 Lissencephaly 50 0.689
185
KSH004 Kashin-Beck Disease 38 0.689
186
ACT098 Acute Erythroid Leukemia 55 0.689
187
c PRM032 Primary Congenital Glaucoma 41 0.689
188
PSD012 Pseudoachondroplasia 59 0.689
190
c CRN280 Cornea Plana 2, Autosomal Recessive 24 0.689
191
c GLC092 Glaucoma, Primary Open Angle 62 0.689
192
P HPT023 Hepatocellular Carcinoma 96 0.689
193
PLY183 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 41 0.689
194
NRR001 Neuroretinitis 42 0.689
195
MDD018 Middle East Respiratory Syndrome 44 0.689
196
P MYP006 Myopia 56 0.689
197
P OPN001 Open-Angle Glaucoma 55 0.689
198
P NRB001 Neuroblastoma 66 0.689
199
MCP006 Mucoepidermoid Carcinoma 48 0.689
200
P EMB005 Embryonal Rhabdomyosarcoma 53 0.689
201
P RHB003 Rhabdomyosarcoma 66 0.689
202
RTN023 Retinitis 46 0.689
203
P VSC011 Vasculitis 61 0.689
204
P NRP001 Neuropathy 60 0.689
205
CHR074 Choriocarcinoma 46 0.689
206
PST092 Posttransplant Acute Limbic Encephalitis 28 0.689
207
GLL048 Glial Tumor 52 0.689
208
LMB050 Limbal Stem Cell Deficiency 50 0.689
209
P OPT006 Optic Nerve Disease 58 0.689
210
OVR048 Ovarian Cystadenoma 29 0.689
211
P FBR017 Fibrosarcoma 56 0.689
212
P TRN020 Turner Syndrome 67 0.689
213
HRT012 Heart Valve Disease 53 0.689
214
CNN005 Connective Tissue Disease 67 0.689
215
P VSC007 Vascular Disease 63 0.689
216
P ACH011 Achondrogenesis 53 0.689
217
MTR002 Mitral Valve Insufficiency 52 0.689
218
P CRN026 Corneal Edema 42 0.689
219
BLL004 Bullous Keratopathy 48 0.689
220
ACN001 Acinar Cell Carcinoma 45 0.689
221
CYS009 Cystadenoma 43 0.689
222
P GND004 Gonadal Dysgenesis 47 0.689
223
P SCL015 Scleritis 48 0.689
224
PLY024 Polymicrogyria 47 0.689
225
P CRB088 Cerebral Atrophy 33 0.689
226
P CHR345 Chronic Pain 50 0.689
227
ANR040 Aneurysm 61 0.689
228
CHR178 Chromosomal Triplication 34 0.689
229
HPS001 Hip Subluxation 16 0.689
230
GLM045 Glioma 63 0.689
231
GRW007 Growth Hormone Deficiency 46 0.607
232
ATH004 Athetosis 25 0.607
233
ACT181 Acute Motor Axonal Neuropathy 22 0.487
234
P VTR007 Vitreoretinopathy 46 0.487
235
P SZR006 Seizure Disorder 70 0.487
236
SYN031 Synovial Chondromatosis 41 0.487
237
SPS057 Spasticity 42 0.487
238
P OVR082 Overgrowth Syndrome 49 0.487
239
ATH013 Atherosclerosis Susceptibility 63 0.487
240
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.487
241
SDD001 Sudden Infant Death Syndrome 60 0.487
242
HRL004 Hurler-Scheie Syndrome 57 0.487
243
PSR001 Psoriatic Arthritis 62 0.487
244
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.487
245
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 0.487
246
P OST002 Osteoporosis 76 0.487
247
P OVR042 Ovarian Cancer 88 0.487
248
PLY150 Polykaryocytosis Inducer 29 0.487
249
CLF027 Cleft Palate, Isolated 64 0.487
250
CRT072 Creutzfeldt-Jakob Disease 68 0.487
251
c ART138 Aortic Aneurysm, Familial Abdominal, 1 61 0.487
252
c THR092 Thrombophilia Due to Thrombin Defect 74 0.487
253
c MST023 Mesothelioma, Malignant 56 0.487
254
OTT002 Otitis Media 71 0.487
255
c BDY012 Body Mass Index Quantitative Trait Locus 7 44 0.487
256
NRD100 Neurodevelopmental, Jaw, Eye, and Digital Syndrome 49 0.487
257
TND004 Tendinopathy 45 0.487
258
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 0.487
259
c MCR115 Microvascular Complications of Diabetes 5 65 0.487
260
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 0.487
261
HYP865 Hypogonadotropic Hypogonadism 25 with Anosmia 23 0.487
262
PRT251 Proteinuria, Chronic Benign 57 0.487
263
P NNP021 Nanophthalmos 39 0.487
264
URL001 Urolithiasis 46 0.487
265
DST005 Diastrophic Dysplasia 57 0.487
266
c GM1006 Gm1-Gangliosidosis, Type Iii 45 0.487
267
WRN001 Werner Syndrome 69 0.487
268
P BDY004 Body Mass Index Quantitative Trait Locus 11 83 0.487
269
SPN019 Spondylolisthesis 52 0.487
270
LGG001 Legg-Calve-Perthes Disease 60 0.487
271
c BDY006 Body Mass Index Quantitative Trait Locus 8 44 0.487
272
c BRN108 Branchiootic Syndrome 1 62 0.487
273
AST006 Astigmatism 47 0.487
274
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.487
275
c HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 24 0.487
276
c BDY020 Body Mass Index Quantitative Trait Locus 19 52 0.487
277
c HPT073 Hepatitis C Virus 71 0.487
278
c SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 59 0.487
279
CHN056 Chondrosarcoma, Extraskeletal Myxoid 42 0.487
280
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.487
281
P DVL012 Developmental Dysplasia of the Hip 1 46 0.487
282
SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 42 0.487
283
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 0.487
284
P CHN044 Chondrodysplasia Punctata Syndrome 43 0.487
285
TRG006 Trigger Thumb 23 0.487
286
VRC005 Varicose Veins 60 0.487
287
MYX004 Myxedema 43 0.487
288
NPH097 Nephrosialidosis 18 0.487
289
NRM019 Neuraminidase Deficiency 48 0.487
290
SLV025 Salivary Gland Adenoma, Pleomorphic 36 0.487
291
c TBR025 Tuberous Sclerosis 1 84 0.487
292
FCS014 Fucosidase Regulator 15 0.487
293
DMN031 Dementia, Lewy Body 65 0.487
294
P NNN008 Noonan Syndrome 1 77 0.487
295
PCT003 Pectus Excavatum 46 0.487
296
HRW001 Hair Whorl 35 0.487
297
SCH036 Scheie Syndrome 73 0.487
298
ADN024 Adenine Phosphoribosyltransferase Deficiency 53 0.487
299
BRW006 Brown Syndrome 26 0.487
300
FBR054 Fibroma 44 0.487
301
ORL015 Oral Squamous Cell Carcinoma 43 0.487
302
AML029 Ameloblastoma 47 0.487
303
ZKF001 Zika Fever 52 0.487
304
FBR009 Fibrous Dysplasia 48 0.487
305
P CRB210 Cerebrofacial Arteriovenous Metameric Syndrome 27 0.487
306
P EXT030 Extraosseous Chondrosarcoma 31 0.487
307
c LRG001 Large Cell Carcinoma 48 0.487
308
P FBR003 Fibrous Histiocytoma 43 0.487
309
VRN007 Variant Abeta2m Amyloidosis 17 0.487
310
P ALP008 Alopecia 54 0.487
311
P CYS018 Cystitis 59 0.487
312
SVR001 Severe Acute Respiratory Syndrome 67 0.487
313
PRC013 Pericarditis 53 0.487
314
P OSS001 Ossifying Fibroma 42 0.487
315
c HPT001 Hepatitis C 62 0.487
316
P CHR012 Chronic Granulomatous Disease 69 0.487
317
P PLM036 Pulmonary Fibrosis 66 0.487
318
ART016 Aortic Aneurysm 68 0.487
319
CHN009 Chondroid Chordoma 25 0.487
320
P SYS005 Systemic Scleroderma 74 0.487
321
P MYX008 Myxoid Chondrosarcoma 29 0.487
322
FLL031 Follicular Adenoma 40 0.487
323
PPT005 Peptic Ulcer Disease 58 0.487
324
P CTR002 Cataract 60 0.487
325
LNG099 Lung Disease 62 0.487
326
P NGH001 Night Blindness 52 0.487
327
c HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 24 0.487
328
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 0.487
329
HLX001 Helix Syndrome 48 0.487
330
PLM005 Pleomorphic Lipoma 40 0.487
331
c JVN061 Juvenile Arthritis 56 0.487
332
P DNG005 Dengue Virus 56 0.487
333
c PRC016 Pre-Eclampsia 65 0.487
334
P UVT001 Uveitis 57 0.487
335
CHG001 Chagas Disease 66 0.487
336
ALL029 Allergic Disease 59 0.487
337
P GRV001 Graves' Disease 55 0.487
338
P FCL005 Focal Segmental Glomerulosclerosis 57 0.487
339
SPN029 Spondylolysis 39 0.487
340
PRC011 Parachordoma 27 0.487
341
TXC005 Toxic Shock Syndrome 62 0.487
342
c MLG084 Malignant Fibrous Histiocytoma 62 0.487
343
P MLN008 Melanoma 76 0.487
344
CRN027 Corneal Neovascularization 47 0.487
345
P NPH012 Nephrotic Syndrome 60 0.487
346
P BRS053 Breast Fibroadenoma 49 0.487
347
P ECL001 Eclampsia 52 0.487
348
P INT143 Interstitial Cystitis 60 0.487
349
INT030 Intracranial Aneurysm 55 0.487
350
CHL123 Chlamydia 58 0.487
351
KRT002 Keratomalacia 55 0.487
352
BRN024 Bronchitis 67 0.487
353
c INH020 Inherited Metabolic Disorder 48 0.487
354
P OVR046 Ovarian Cyst 46 0.487
355
P INF032 Infertility 57 0.487
356
P SLP005 Sleep Disorder 61 0.487
357
P HYP076 Hyperthyroidism 53 0.487
358
P KDN017 Kidney Cancer 61 0.487
359
MSN004 Mesenchymal Cell Neoplasm 42 0.487
360
P BNG032 Benign Mesothelioma 53 0.487
361
P EHL001 Ehlers-Danlos Syndrome 58 0.487
362
PRM024 Primary Angle-Closure Glaucoma 39 0.487
363
P ADL010 Adult Respiratory Distress Syndrome 71 0.487
364
GST023 Gastric Ulcer 52 0.487
365
QDR001 Quadriplegia 50 0.487
366
ANK001 Ankylosis 51 0.487
367
CLC006 Calcinosis 47 0.487
368
HYP060 Hyperinsulinism 54 0.487
369
KDN013 Kidney Hypertrophy 34 0.487
370
c PSD047 Pseudo-Turner Syndrome 52 0.487
371
P ENC018 Encephalopathy 62 0.487
372
CRB086 Cerebral Aneurysms 40 0.487
373
DHY008 Dihydroxyadeninuria 24 0.487
374
FBR024 Fibrocartilaginous Embolism 15 0.487
375
ODN005 Odontogenic Myxoma 31 0.487
376
GST039 Gastroduodenitis 37 0.487
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