Search results for otx2

287 hits were found for otx2

# Family MCID Name MIFTS Score
1
c MCR252 Microphthalmia, Syndromic 5 38 60.506
2
CLB026 Colobomatous Microphthalmia 48 35.055
3
PTT043 Pituitary Hormone Deficiency, Combined, 6 19 34.980
4
MCR013 Microphthalmia 59 33.786
5
FRY006 Fryns Microphthalmia Syndrome 52 20.105
6
AGN012 Agnathia-Otocephaly Complex 52 19.787
7
P MDL005 Medulloblastoma 75 18.559
8
SPT006 Septooptic Dysplasia 62 15.340
9
FND002 Fundus Dystrophy 54 15.163
10
P SYN165 Syndromic Microphthalmia 34 14.024
11
ANX010 Anxiety 70 12.604
12
P MCR010 Microcephaly 59 11.639
13
P CTR002 Cataract 59 11.317
15
P HYP083 Hypopituitarism 51 10.908
16
PTH003 Pathologic Nystagmus 52 10.569
17
HYP264 Hypertonia 35 10.569
18
PTT001 Pituitary Hypoplasia 34 10.512
19
ISL003 Isolated Growth Hormone Deficiency 56 10.450
20
DYS018 Dysostosis 43 9.964
21
PTT063 Pattern Dystrophy 36 9.964
22
HMF006 Hemifacial Microsomia 55 9.934
23
P BRN006 Branchiootorenal Syndrome 51 9.857
24
P PRK057 Parkinson Disease, Late-Onset 79 9.348
25
c ART144 Arthrogryposis, Distal, Type 1a 61 9.055
26
c ART061 Arthrogryposis, Distal, Type 2a 58 9.055
27
P CNR004 Cone-Rod Dystrophy 2 74 9.055
28
CLB010 Coloboma of Macula 53 8.449
29
LBR036 Leber Plus Disease 67 7.943
30
P ANR048 Aniridia 1 66 7.885
31
P RTN008 Retinitis Pigmentosa 79 7.860
32
OPT070 Optic Nerve Hypoplasia, Bilateral 55 7.814
33
CMB062 Combined Pituitary Hormone Deficiencies, Genetic Forms 34 7.804
34
BTT011 Butterfly-Shaped Pigment Dystrophy 30 7.804
35
P HLP001 Holoprosencephaly 68 7.798
36
c MCR241 Microphthalmia, Syndromic 3 56 7.747
37
DYS038 Dysgnathia Complex 21 7.747
38
PTT046 Pituitary Hormone Deficiency, Combined, 2 62 7.567
39
P ANT088 Anterior Segment Dysgenesis 54 7.491
40
MDL003 Medullomyoblastoma 34 7.433
41
P NNP021 Nanophthalmos 40 7.281
42
CMP097 Complex Chromosomal Rearrangement 23 7.205
43
CHR103 Charge Syndrome 65 6.695
44
AMB002 Amblyopia 49 6.629
45
VLP002 Valproate Embryopathy 39 6.588
46
P ISL020 Isolated Microphthalmia 24 6.588
47
P KLL001 Kallmann Syndrome 65 6.588
48
P PRS062 Persistent Hyperplastic Primary Vitreous 48 6.534
49
BSL036 Basal Cell Nevus Syndrome 73 6.403
50
c MCR245 Microphthalmia, Syndromic 8 46 6.403
51
ENH001 Enhanced S-Cone Syndrome 58 6.403
52
c ART060 Arthrogryposis, Distal, Type 1b 34 6.403
53
c MCR137 Microphthalmia, Isolated 2 44 6.403
55
c MCR114 Microphthalmia, Isolated 3 42 6.403
56
IRS003 Iris Disease 31 6.403
57
DSS008 Disease of Mental Health 74 6.403
58
c SPS229 Spastic Ataxia 8 21 6.403
59
INF039 Infratentorial Cancer 39 6.403
60
INT083 Intraventricular Meningioma 25 6.403
61
NDL005 Nodular Medulloblastoma 41 6.403
62
VTR005 Vitreous Disease 41 6.403
63
EST005 Esotropia 43 6.403
64
c INH030 Inherited Retinal Disorder 28 2.338
65
GRW007 Growth Hormone Deficiency 47 2.206
66
P RTN018 Retinal Disease 53 2.153
67
P RTN024 Retinoblastoma 72 2.081
68
c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 26 1.925
69
P NGH001 Night Blindness 52 1.681
70
c HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 24 1.653
71
P RTN016 Retinal Degeneration 52 1.646
72
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 58 1.499
73
ISL011 Isolated Aniridia 37 1.438
74
OCL052 Ocular Dominance 40 1.427
75
HYP056 Hypoglycemia 65 1.427
76
SX2004 Sox2 Disorder 13 1.361
77
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 1.344
78
PTT009 Pituitary Gland Disease 52 1.344
79
c BRN108 Branchiootic Syndrome 1 63 1.286
81
P INF032 Infertility 60 1.264
82
P NRB001 Neuroblastoma 66 1.264
83
c NRF024 Neurofibromatosis, Type I 76 1.218
84
SYN112 Syndromic Microphthalmia-Anophthalmia-Coloboma 13 1.218
85
PTT041 Pituitary Stalk Interruption Syndrome 54 1.217
86
HLX001 Helix Syndrome 47 1.140
87
NRR001 Neuroretinitis 42 1.123
88
RTN023 Retinitis 45 1.123
89
c HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 25 1.106
90
c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 29 1.106
91
GRG001 Greig Cephalopolysyndactyly Syndrome 64 1.050
92
c HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 27 1.030
93
P CHR342 Chiari Malformation 41 1.030
94
NRL016 Neural Tube Defects 80 1.009
95
BRN028 Brain Cancer 73 1.009
96
CNG608 Congenital Hypopituitarism 29 1.009
97
CLT003 Colitis 63 0.987
98
HYP080 Hypogonadism 49 0.987
99
P EYD002 Eye Disease 57 0.987
100
48X005 48,xyyy 39 0.987
101
CLF027 Cleft Palate, Isolated 64 0.963
102
c MCL066 Macular Dystrophy, Vitelliform, 2 49 0.963
103
P HYP730 Hypogonadotropic Hypogonadism 57 0.963
104
EMB004 Embryonal Carcinoma 55 0.937
105
P LBR033 Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy 23 0.937
106
c MJR022 Major Affective Disorder 8 37 0.909
107
P CND005 Cone Dystrophy 47 0.909
108
P PLY006 Polydactyly 58 0.909
109
c MJR024 Major Affective Disorder 9 40 0.909
110
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.909
111
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 0.909
112
c ANT086 Anterior Segment Dysgenesis 2 48 0.909
113
P HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 57 0.909
114
P LNG064 Lung Cancer Susceptibility 3 69 0.909
115
P BPL003 Bipolar Disorder 56 0.909
116
P ADN016 Adenocarcinoma 63 0.909
117
ISL004 Isolated Gonadotropin-Releasing Hormone Deficiency 27 0.909
118
ISL075 Isolated Pierre Robin Sequence 29 0.909
119
c HYP795 Hypothyroidism, Congenital, Nongoitrous, 4 46 0.878
120
P MYP004 Myopathy 67 0.878
121
PTT044 Pituitary Hormone Deficiency, Combined, 4 32 0.843
122
PTR032 Peters-Plus Syndrome 63 0.843
123
c SCH056 Schizophrenia 15 38 0.843
124
c RTN041 Retinitis Pigmentosa 11 43 0.843
125
P ECT006 Ectodermal Dysplasia 62 0.843
126
P HYD006 Hydrocephalus 62 0.843
127
P NRF002 Neurofibromatosis 60 0.843
128
CLF001 Cleft Lip 54 0.843
129
HYP850 Hypoglossia/aglossia 6 0.843
130
CLF004 Cleft Lip/palate 56 0.843
131
P SCL047 Sclerocornea 32 0.802
132
c BRN128 Branchiootic Syndrome 3 27 0.802
133
P BRN042 Branchiootic Syndrome 34 0.802
134
CHR619 Chromosome 2q35 Duplication Syndrome 64 0.802
135
P PRR016 Pierre Robin Syndrome 50 0.802
136
c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 27 0.802
137
DWR001 Dwarfism 44 0.802
138
c ANT085 Anterior Segment Dysgenesis 5 44 0.748
139
P OVR042 Ovarian Cancer 88 0.551
140
P BRS047 Breast Cancer 97 0.551
141
P PNC035 Pancreatic Cancer 87 0.551
142
P LYM118 Lymphoma 66 0.392
143
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 0.392
144
LYM133 Lymphoma, Hodgkin, Classic 69 0.392
145
BRN050 Branchial Arch Defects 8 0.370
146
FTL006 Fetal Alcohol Spectrum Disorder 43 0.346
147
c ATS007 Autism Spectrum Disorder 71 0.320
148
VTR013 Vitreoretinopathy, Neovascular Inflammatory 62 0.320
149
P VTR007 Vitreoretinopathy 45 0.320
150
EXN003 Exencephaly 30 0.292
151
LYM143 Lymphoma, Non-Hodgkin, Familial 74 0.261
152
RTN017 Retinal Detachment 60 0.261
153
CYS001 Cystic Fibrosis 77 0.261
154
MYL069 Myeloma, Multiple 76 0.261
155
c HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 29 0.261
156
P LKM071 Leukemia, Chronic Lymphocytic 74 0.261
157
P VTL001 Vitelliform Macular Dystrophy 46 0.261
158
LYM040 Lymphoblastic Lymphoma 53 0.261
159
UVL009 Uvula, Bifid 28 0.226
160
c AXN010 Axenfeld-Rieger Syndrome, Type 3 48 0.226
161
P JBR020 Joubert Syndrome 1 74 0.226
162
c MCR115 Microvascular Complications of Diabetes 5 65 0.226
163
P MJR001 Major Depressive Disorder 68 0.226
164
c ANT077 Anterior Segment Dysgenesis 1 47 0.226
165
P FTL001 Fetal Alcohol Syndrome 55 0.226
166
SPP007 Suppression Amblyopia 38 0.226
167
SVR004 Severe Combined Immunodeficiency 70 0.226
168
P HYP086 Hypothyroidism 68 0.226
169
MDD011 Mood Disorder 61 0.226
170
MNT002 Mental Depression 56 0.226
172
DPR016 Depression 64 0.226
173
ALS001 Alstrom Syndrome 65 0.185
174
P CLB034 Coloboma, Ocular, Autosomal Dominant 49 0.185
175
MCK005 Mckusick-Kaufman Syndrome 61 0.185
176
P MCK013 Meckel Syndrome, Type 1 64 0.185
177
c MCR263 Microphthalmia, Syndromic 1 49 0.185
178
c OPT051 Opitz Gbbb Syndrome, Type I 45 0.185
179
c BRD010 Bardet-Biedl Syndrome 1 64 0.185
180
c SPN101 Spinocerebellar Ataxia 29 58 0.185
181
SMT004 Smith-Lemli-Opitz Syndrome 69 0.185
182
c MCR251 Microphthalmia, Syndromic 6 48 0.185
183
P KLN006 Koolen-De Vries Syndrome 51 0.185
184
P RSP003 Respiratory Failure 73 0.185
185
P BRD002 Bardet-Biedl Syndrome 66 0.185
186
P TBR001 Tuberous Sclerosis 69 0.185
187
c BRD014 Bardet-Biedl Syndrome 2 53 0.185
188
c BRD013 Bardet-Biedl Syndrome 12 44 0.185
189
P EPL164 Epilepsy 70 0.185
190
P CHR012 Chronic Granulomatous Disease 69 0.185
191
KHN001 Kuhnt-Junius Degeneration 48 0.185
192
KRT002 Keratomalacia 54 0.185
193
P NPH005 Nephronophthisis 59 0.185
194
DXT001 Dextrocardia 54 0.185
195
CRY010 Cryptophthalmos 26 0.185
196
47X002 47,xyy 47 0.185
197
STS002 Situs Inversus 44 0.185
198
ANX004 Anoxia 40 0.185
199
DXT002 Dextrocardia with Situs Inversus 43 0.185
200
TRM010 Traumatic Brain Injury 50 0.185
201
c JVN041 Juvenile Nephronophthisis 45 0.185
202
CNG067 Congenital Cystic Eye 16 0.185
203
BRN071 Brain Injury 50 0.185
204
P CHR345 Chronic Pain 50 0.185
205
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 0.131
206
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.131
207
BRN034 Brain Meningioma 33 0.131
208
ERL051 Early Response to Neural Induction Gene 8 0.131
209
c ZNC011 Zinc Finger Protein 106 14 0.131
210
APH002 Aphasia 55 0.131
211
P TWN003 Townes-Brocks Syndrome 55 0.131
212
ACT238 Acth Deficiency, Isolated 52 0.131
213
c PRS122 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 39 0.131
214
ART001 Arterial Tortuosity Syndrome 64 0.131
215
CRY035 Cryptorchidism, Unilateral or Bilateral 57 0.131
216
P OST002 Osteoporosis 76 0.131
217
PPL048 Papillorenal Syndrome 58 0.131
218
c SML038 Small Cell Cancer of the Lung 68 0.131
219
c MCR124 Microphthalmia, Isolated 1 40 0.131
220
ISL114 Isolated Growth Hormone Deficiency, Type Ii 40 0.131
221
OST159 Osteogenic Sarcoma 66 0.131
222
P MCR129 Microvascular Complications of Diabetes 1 67 0.131
223
P ARC016 Auriculocondylar Syndrome 1 41 0.131
224
c MCR261 Microphthalmia, Syndromic 2 50 0.131
225
TBX002 T-Box 24 6 0.131
226
c CNG006 Congenital Hypothyroidism 63 0.131
227
INT323 Intraocular Pressure Quantitative Trait Locus 63 0.131
228
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 0.131
229
P GST053 Gastric Cancer 82 0.131
230
RTN193 Retinitis Pigmentosa and Erythrocytic Microcytosis 52 0.131
231
c MNT338 Mental Retardation, Autosomal Recessive 65 23 0.131
232
c MCR112 Microvascular Complications of Diabetes 2 42 0.131
233
P LYS001 Loeys-Dietz Syndrome 65 0.131
234
c CRN209 Cornelia De Lange Syndrome 5 38 0.131
235
c CTR119 Cataract 32, Multiple Types 29 0.131
236
CTR107 Cataract 13 with Adult I Phenotype 23 0.131
237
TBL029 Tubulin, Beta 28 0.131
238
P AST005 Asthma 75 0.131
239
c LYS021 Loeys-Dietz Syndrome 3 57 0.131
240
MNN043 Meningioma, Familial 79 0.131
241
CMB041 Combined Oxidative Phosphorylation Deficiency 13 29 0.131
242
P HNT016 Huntington Disease 73 0.131
243
P ATT013 Attention Deficit-Hyperactivity Disorder 65 0.131
244
c MCR256 Microphthalmia, Syndromic 9 60 0.131
245
c HLP022 Holoprosencephaly 8 23 0.131
246
c MCR122 Microphthalmia, Isolated 5 39 0.131
247
P PST016 Posterior Polar Cataract 26 0.131
248
P CNG010 Congenital Stationary Night Blindness 56 0.131
249
RPD005 Rapidly Involuting Congenital Hemangioma 48 0.131
250
PST028 Post-Traumatic Stress Disorder 58 0.131
251
PPL022 Papilloma 53 0.131
252
NRT004 Neuritis 53 0.131
253
P ALC033 Alcohol Use Disorder 67 0.131
254
P BNG030 Benign Ependymoma 51 0.131
255
LYM002 Lymphoplasmacyte-Rich Meningioma 35 0.131
256
SYS004 Systemic Mastocytosis 62 0.131
257
CLL010 Cellular Ependymoma 58 0.131
258
ASP004 Asphyxia Neonatorum 50 0.131
259
SQM002 Squamous Cell Papilloma 45 0.131
260
SCR001 Secretory Meningioma 40 0.131
261
P TRT010 Teratoma 50 0.131
262
P SBS003 Substance Abuse 54 0.131
263
HYP066 Hyperglycemia 60 0.131
264
ALL029 Allergic Disease 61 0.131
265
GST033 Gestational Diabetes 60 0.131
266
P CRN015 Cornelia De Lange Syndrome 67 0.131
267
P HYP040 Hypospadias 51 0.131
268
INT395 Intracranial Meningioma 47 0.131
269
P GND004 Gonadal Dysgenesis 46 0.131
270
AZS001 Azoospermia 45 0.131
271
VRC001 Varicocele 48 0.131
272
TLN003 Telangiectasis 51 0.131
273
ACT084 Acute Stress Disorder 53 0.131
274
P MST009 Mastocytosis 64 0.131
275
FBR001 Fibrous Meningioma 25 0.131
276
ARC008 Auriculo-Condylar Syndrome 43 0.131
277
CCN002 Cocaine Abuse 49 0.131
278
MCL079 Macular Telangiectasia Type 2 28 0.131
279
P DBT005 Diabetes Insipidus 54 0.131
280
TRS010 Trisomy 17 Mosaicism 16 0.131
281
46X012 46,xy Partial Gonadal Dysgenesis 41 0.131
282
c CNT101 Central Congenital Hypothyroidism 37 0.131
283
CHR178 Chromosomal Triplication 33 0.131
284
P RRT020 Rare Tumor 39 0.131
285
CRB090 Cerebral Hypoxia 42 0.131
286
SPN186 Spinal Cord Injury 60 0.131
287
ERL027 Early-Onset Non-Syndromic Cataract 31 0.131
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