Search results for pax6

262 hits were found for pax6

# Family MCID Name MIFTS Score
1
P ANR048 Aniridia 1 63 6.114
2
KRT019 Keratitis, Hereditary 65 4.756
3
P FVL006 Foveal Hypoplasia 1 30 4.307
4
PTR032 Peters-Plus Syndrome 63 4.260
5
CLB003 Coloboma of Optic Nerve 42 4.217
6
c ANT085 Anterior Segment Dysgenesis 5 36 3.966
7
WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 52 3.944
8
OPT070 Optic Nerve Hypoplasia, Bilateral 56 3.649
9
P CLB034 Coloboma, Ocular, Autosomal Dominant 47 3.505
10
MCR013 Microphthalmia 57 3.423
11
P CTR002 Cataract 60 3.225
12
ISL011 Isolated Aniridia 31 2.962
13
GLL028 Gillespie Syndrome 53 2.949
14
CLB010 Coloboma of Macula 52 2.847
15
P ANT088 Anterior Segment Dysgenesis 52 2.633
16
P MYP006 Myopia 55 2.484
17
P CNG024 Congenital Nystagmus 36 2.368
18
P MCR010 Microcephaly 59 2.297
19
GLC003 Glucose Intolerance 54 2.297
20
P CRN025 Corneal Dystrophy 49 2.297
21
PTH003 Pathologic Nystagmus 52 2.244
22
P MDL005 Medulloblastoma 77 2.241
23
CLB026 Colobomatous Microphthalmia 47 2.233
24
P SCH015 Schizophrenia 74 2.218
25
KRT008 Keratopathy 47 2.095
26
EYD002 Eye Disease 58 2.046
27
P PTS002 Ptosis 53 1.989
28
c ANR047 Aniridia 2 25 1.918
29
P HYP083 Hypopituitarism 53 1.882
30
c AXN010 Axenfeld-Rieger Syndrome, Type 3 49 1.882
31
P AXN002 Axenfeld-Rieger Syndrome 59 1.862
32
HYP748 Hypertelorism 50 1.862
33
P ECT005 Ectropion 42 1.862
34
c CNG513 Congenital Ptosis 42 1.862
36
NRL016 Neural Tube Defects 82 1.838
37
INT323 Intraocular Pressure Quantitative Trait Locus 62 1.838
38
RTN017 Retinal Detachment 61 1.838
39
c GLC097 Glaucoma 3, Primary Congenital, a 58 1.838
40
ISL003 Isolated Growth Hormone Deficiency 49 1.838
41
INT060 Intestinal Atresia 40 1.838
42
P RTN008 Retinitis Pigmentosa 79 1.811
43
P MTR004 Maturity-Onset Diabetes of the Young 65 1.811
44
P WRD001 Waardenburg's Syndrome 59 1.811
45
P RTN018 Retinal Disease 53 1.811
46
P SYN165 Syndromic Microphthalmia 35 1.811
47
LRG003 Large Cell Medulloblastoma 30 1.811
49
FRY006 Fryns Microphthalmia Syndrome 52 1.653
50
c WLM018 Wilms Tumor 5 61 1.552
51
ABL002 Ablepharon-Macrostomia Syndrome 53 1.519
52
P STR020 Strabismus 55 1.406
53
CLB009 Coloboma of Iris 28 1.406
54
P CRN024 Corneal Disease 44 1.388
55
ISL131 Isolated Foveal Hypoplasia 12 1.388
56
BNG009 Benign Epilepsy with Centrotemporal Spikes 58 1.367
57
P PRS062 Persistent Hyperplastic Primary Vitreous 44 1.344
58
P SCL047 Sclerocornea 32 1.344
59
P HLP001 Holoprosencephaly 67 1.316
60
PPL048 Papillorenal Syndrome 58 1.316
61
AMB002 Amblyopia 49 1.316
62
P JVN008 Juvenile Glaucoma 47 1.316
63
c PRM032 Primary Congenital Glaucoma 41 1.316
64
EXT022 Exotropia 41 1.316
65
CLB018 Coloboma of Eyelid 16 1.316
66
CLB008 Coloboma of Eye Lens 15 1.316
67
ARR002 Arrhinia 12 1.316
68
CHR103 Charge Syndrome 67 1.280
69
LBR036 Leber Plus Disease 66 1.280
70
c WLM013 Wilms Tumor 1 65 1.280
71
SPT006 Septooptic Dysplasia 64 1.280
72
P ACH003 Achromatopsia 61 1.280
73
P PRV006 Pervasive Developmental Disorder 57 1.280
74
FND002 Fundus Dystrophy 55 1.280
75
P PRV002 Periventricular Nodular Heterotopia 52 1.280
76
c AXN009 Axenfeld-Rieger Syndrome, Type 1 49 1.280
77
c PRM031 Primary Autosomal Recessive Microcephaly 47 1.280
78
DPM001 Dopamine Beta-Hydroxylase Deficiency 47 1.280
79
P ORF002 Orofacial Cleft 44 1.280
80
c MCR137 Microphthalmia, Isolated 2 44 1.280
81
c PNT039 Pontocerebellar Hypoplasia, Type 7 43 1.280
82
PHY002 Physical Disorder 42 1.280
83
EST005 Esotropia 42 1.280
84
c MCR114 Microphthalmia, Isolated 3 42 1.280
85
OCL011 Ocular Motility Disease 42 1.280
86
EYL005 Eyelid Disease 40 1.280
87
VTR005 Vitreous Disease 39 1.280
88
LNS001 Lens Subluxation 38 1.280
90
P NNP021 Nanophthalmos 36 1.280
91
HYD007 Hydrophthalmos 36 1.280
92
UVL010 Uveal Disease 35 1.280
93
P LNS003 Lens Disease 34 1.280
94
PNG001 Pinguecula 31 1.280
95
GRM001 Germ Cell and Embryonal Cancer 29 1.280
96
IRS003 Iris Disease 29 1.280
97
c CHR565 Chromosomal Deletion Syndrome 25 1.280
98
c CNG031 Congenital Nervous System Abnormality 24 1.280
99
EYD001 Eye Degenerative Disease 24 1.280
100
CNG005 Congenital Aphakia 23 1.280
101
CNJ010 Conjunctival Degeneration 19 1.280
102
c SPS229 Spastic Ataxia 8 19 1.280
103
DVL026 Developmental Defect of the Eye 9 1.280
104
JNT004 Joint Laxity, Short Stature, and Myopia 45 0.194
105
GLB015 Glioblastoma Multiforme 75 0.163
106
P RTN024 Retinoblastoma 73 0.157
107
c FML008 Familial Retinoblastoma 53 0.157
108
P GLM045 Glioma 63 0.123
109
GLL048 Glial Tumor 45 0.123
110
RFR003 Refractive Error 43 0.115
111
P LNG032 Lung Cancer 98 0.097
112
P GLM040 Glioma Susceptibility 1 81 0.097
113
c SML038 Small Cell Cancer of the Lung 65 0.097
114
P ISL078 Isolated Ectopia Lentis 56 0.097
115
P AST007 Astrocytoma 51 0.097
116
MCH006 Mechanical Strabismus 42 0.097
117
P ATS364 Autism 70 0.087
118
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.087
119
HYP066 Hyperglycemia 61 0.087
120
INS001 Insulinoma 60 0.087
121
LMB050 Limbal Stem Cell Deficiency 51 0.087
122
HLX001 Helix Syndrome 47 0.087
123
P PNC035 Pancreatic Cancer 84 0.075
124
P MYL006 Myeloid Leukemia 60 0.075
125
ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 50 0.075
126
c MLG068 Malignant Glioma 46 0.075
127
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.075
128
TTH030 Teeth, Supernumerary 33 0.075
129
CTR027 Cataract-Glaucoma 27 0.075
131
P LKM002 Leukemia 68 0.061
132
PNC129 Pancreatic Adenocarcinoma 68 0.061
133
c ATS007 Autism Spectrum Disorder 67 0.061
134
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 64 0.061
135
ATM095 Autoimmune Disease 62 0.061
136
ALL026 Allergic Hypersensitivity Disease 62 0.061
137
GST033 Gestational Diabetes 61 0.061
138
VSL002 Visual Epilepsy 59 0.061
139
P SZR006 Seizure Disorder 56 0.061
140
P RTN016 Retinal Degeneration 53 0.061
141
HYP080 Hypogonadism 50 0.061
142
LRN003 Learning Disability 49 0.061
143
c DBT103 Diabetes Mellitus, Permanent Neonatal 4 46 0.061
144
CRB004 Cerebral Artery Occlusion 45 0.061
145
VSL013 Visual Impairment and Progressive Phthisis Bulbi 41 0.061
146
CHR178 Chromosomal Triplication 35 0.061
147
PLY150 Polykaryocytosis Inducer 31 0.061
148
c MYP040 Myopia 7 20 0.061
149
ECT009 Ectopia Pupillae 13 0.061
150
P PRS040 Prostate Cancer 97 0.043
151
P BRS047 Breast Cancer 97 0.043
152
P ALZ034 Alzheimer Disease 88 0.043
153
c LKM061 Leukemia, Acute Myeloid 84 0.043
154
P GST053 Gastric Cancer 83 0.043
155
P BLD134 Bladder Cancer 79 0.043
156
P LNG064 Lung Cancer Susceptibility 3 78 0.043
157
c NRF024 Neurofibromatosis, Type I 77 0.043
158
LPT014 Leptin Deficiency or Dysfunction 74 0.043
159
P NRB001 Neuroblastoma 72 0.043
160
P EPL164 Epilepsy 71 0.043
161
DWN001 Down Syndrome 70 0.043
162
SVR097 Severe Cutaneous Adverse Reaction 69 0.043
163
P OLG002 Oligodendroglioma 67 0.043
164
OST159 Osteogenic Sarcoma 66 0.043
165
GRG001 Greig Cephalopolysyndactyly Syndrome 66 0.043
166
P HRS035 Hirschsprung Disease 1 65 0.043
167
P DBT009 Diabetes Mellitus 64 0.043
168
CLF027 Cleft Palate, Isolated 64 0.043
169
P ADN016 Adenocarcinoma 64 0.043
170
P CFF008 Coffin-Siris Syndrome 1 63 0.043
171
TRN015 Transient Cerebral Ischemia 63 0.043
172
VTR013 Vitreoretinopathy, Neovascular Inflammatory 62 0.043
173
ERL001 Early Myoclonic Encephalopathy 62 0.043
174
DRR014 Darier-White Disease 60 0.043
175
THY029 Thyroid Carcinoma 59 0.043
176
P SLP005 Sleep Disorder 59 0.043
177
DCT002 Ductal Carcinoma in Situ 59 0.043
178
GRD007 Grade Iii Astrocytoma 59 0.043
179
ISC004 Ischemia 58 0.043
180
P ALC033 Alcohol Use Disorder 58 0.043
181
ERY003 Erythema Multiforme 58 0.043
182
P PRP019 Peripheral Nervous System Disease 58 0.043
183
P FTL001 Fetal Alcohol Syndrome 57 0.043
184
HYP266 Hypoxia 57 0.043
185
P FBR017 Fibrosarcoma 56 0.043
186
P PLY011 Polycystic Ovary Syndrome 56 0.043
187
P NRP001 Neuropathy 56 0.043
188
P NRF002 Neurofibromatosis 56 0.043
189
EMB004 Embryonal Carcinoma 56 0.043
190
c THY109 Thyroid Cancer, Nonmedullary, 1 56 0.043
191
P SCL048 Sclerosteosis 55 0.043
192
HYP060 Hyperinsulinism 54 0.043
193
MCL075 Macular Dystrophy, Corneal 54 0.043
194
FCL014 Focal Epilepsy 54 0.043
195
P TRM003 Tremor 54 0.043
196
P INS002 in Situ Carcinoma 53 0.043
197
KRT006 Keratoconjunctivitis 53 0.043
198
CTS003 Coats Disease 53 0.043
199
CLF001 Cleft Lip 53 0.043
200
P HYP730 Hypogonadotropic Hypogonadism 52 0.043
201
P NRC002 Narcolepsy 52 0.043
202
P TRT010 Teratoma 52 0.043
203
TRM010 Traumatic Brain Injury 51 0.043
204
P OVR082 Overgrowth Syndrome 50 0.043
205
P NNT009 Neonatal Diabetes Mellitus 50 0.043
206
VTR016 Vater/vacterl Association 50 0.043
207
P KRT007 Keratoconus 50 0.043
208
TKL001 Tukel Syndrome 50 0.043
209
KRT001 Keratoconjunctivitis Sicca 49 0.043
210
PLY024 Polymicrogyria 49 0.043
211
47X002 47,xyy 49 0.043
212
BRN071 Brain Injury 49 0.043
213
BNR002 Bone Resorption Disease 48 0.043
214
c ANT086 Anterior Segment Dysgenesis 2 48 0.043
215
P CRN028 Corneal Ulcer 47 0.043
216
CRN027 Corneal Neovascularization 47 0.043
217
P ENC008 Encephalocele 47 0.043
218
P VTR007 Vitreoretinopathy 46 0.043
219
RTN020 Retinal Vascular Disease 46 0.043
220
GRW007 Growth Hormone Deficiency 46 0.043
221
SBP004 Subependymoma 46 0.043
222
GLC036 Glucagonoma 45 0.043
223
P HYP265 Hypotonia 43 0.043
224
VCT001 Vacterl Association 42 0.043
225
PTC001 Potocki-Shaffer Syndrome 42 0.043
226
SNL007 Senile Cataract 42 0.043
227
TTT001 Tatton-Brown-Rahman Syndrome 41 0.043
228
BSM002 Bosma Arhinia Microphthalmia Syndrome 41 0.043
229
PLY183 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 41 0.043
230
STR094 Stromme Syndrome 41 0.043
231
SPP007 Suppression Amblyopia 39 0.043
232
RPD005 Rapidly Involuting Congenital Hemangioma 38 0.043
233
HMM004 Hamamy Syndrome 37 0.043
234
NRT011 Neurotrophic Keratopathy 37 0.043
235
SYS071 Systemic Autoimmune Disease 37 0.043
236
CRN022 Corneal Degeneration 36 0.043
238
ANS004 Anisometropia 35 0.043
239
ALT003 Alternating Exotropia 34 0.043
240
TRD008 Triiodothyronine Receptor Auxiliary Protein 34 0.043
241
FCL090 Facial Cleft 34 0.043
242
XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 32 0.043
243
P ACT028 Acute Closed-Angle Glaucoma 30 0.043
244
ERY066 Erythema Multiforme Major 30 0.043
245
ERY069 Erythrokeratoderma ''en Cocardes'' 30 0.043
246
c CNG608 Congenital Hypopituitarism 30 0.043
247
PST092 Posttransplant Acute Limbic Encephalitis 29 0.043
248
ARG004 Argyria 27 0.043
249
UNL005 Unilateral Polymicrogyria 27 0.043
250
c BSL030 Basal Encephalocele 26 0.043
251
WLM012 Wilms Tumor Predisposition 24 0.043
252
1Q2003 1q21.1 Recurrent Microdeletion 23 0.043
253
c ANR046 Aniridia 3 19 0.043
254
c MYP044 Myopia 10 18 0.043
255
c MYP041 Myopia 8 17 0.043
256
WLM019 Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 17 0.043
257
c MYP048 Myopia 9 17 0.043
259
c MYP143 Myopia 11, Autosomal Dominant 15 0.043
260
FCS014 Fucosidase Regulator 15 0.043
261
CHR186 Chromosome 11p Duplication 10 0.043
262
SYN148 Syndromic Aniridia 9 0.043
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