Search results for CEP290

248 hits were found for CEP290

# Family MCID Name MIFTS Score
1
c SPN101 Spinocerebellar Ataxia 29 54 129.387
2
c JVN041 Juvenile Nephronophthisis 43 128.834
3
P JBR020 Joubert Syndrome 1 74 60.303
4
P MCK013 Meckel Syndrome, Type 1 64 59.756
5
LBR036 Leber Plus Disease 66 58.262
6
P NPH005 Nephronophthisis 56 57.347
7
c JBR012 Joubert Syndrome 5 47 50.217
8
c LBR005 Leber Congenital Amaurosis 10 45 49.170
9
P BRD002 Bardet-Biedl Syndrome 66 46.375
10
c MCK033 Meckel Syndrome, Type 4 47 45.788
11
c BRD032 Bardet-Biedl Syndrome 14 46 44.250
12
ARM010 Arima Syndrome 56 41.662
13
c SNR006 Senior-Loken Syndrome 6 28 41.334
14
P SNR003 Senior-Loken Syndrome 1 58 39.191
15
FND002 Fundus Dystrophy 55 31.997
16
P RTN008 Retinitis Pigmentosa 80 30.618
17
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 26.428
18
P CNR004 Cone-Rod Dystrophy 2 74 23.554
19
P ENC008 Encephalocele 46 21.923
20
P KDN018 Kidney Disease 72 20.375
21
P RTN016 Retinal Degeneration 52 19.751
22
OCC011 Occipital Encephalocele 26 19.430
23
P PLY014 Polycystic Kidney Disease 69 19.418
24
PTH003 Pathologic Nystagmus 52 18.421
25
DSS008 Disease of Mental Health 74 17.569
26
c MCK012 Meckel Syndrome, Type 6 46 17.198
27
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 17.147
28
P RTN018 Retinal Disease 53 15.991
29
CLP005 Ciliopathy 41 15.185
30
P PLY006 Polydactyly 59 14.494
31
P NGH001 Night Blindness 52 14.395
32
RNL094 Renal Dysplasia, Cystic 43 14.379
33
c BRD010 Bardet-Biedl Syndrome 1 64 13.764
34
P HYD006 Hydrocephalus 61 11.374
35
P CYS039 Cystic Kidney Disease 53 10.956
36
P CND005 Cone Dystrophy 47 10.635
37
P EYD002 Eye Disease 57 10.190
39
APR001 Apraxia 52 9.786
40
c MCK032 Meckel Syndrome, Type 3 49 9.521
41
CHN016 Cohen Syndrome 60 9.516
42
P MCR010 Microcephaly 60 9.516
43
CLB010 Coloboma of Macula 53 9.107
44
P RTN220 Retinal Ciliopathy 22 9.101
45
P KRT007 Keratoconus 50 9.002
46
c INH030 Inherited Retinal Disorder 28 8.776
47
NRR001 Neuroretinitis 42 8.536
48
RTN023 Retinitis 46 8.536
49
c BRD020 Bardet-Biedl Syndrome 8 49 8.413
50
P ACH003 Achromatopsia 62 8.228
51
c ORF037 Orofaciodigital Syndrome I 59 8.043
52
P LBR033 Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy 22 7.941
53
c JBR014 Joubert Syndrome 9 45 7.833
54
P ORF001 Orofaciodigital Syndrome 50 7.833
55
c BRD018 Bardet-Biedl Syndrome 6 49 7.715
56
c MCK014 Meckel Syndrome, Type 5 45 7.259
57
c JBR015 Joubert Syndrome 6 45 7.050
58
c ORF034 Orofaciodigital Syndrome Vi 55 7.030
59
P CCH009 Coach Syndrome 1 54 6.919
60
P STR022 Stargardt Disease 61 6.771
61
c PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 63 6.771
62
c LBR013 Leber Congenital Amaurosis 3 45 6.595
63
CHR081 Choroideremia 58 6.595
64
ALS001 Alstrom Syndrome 65 6.595
65
c LBR004 Leber Congenital Amaurosis 1 52 6.595
66
c LBR019 Leber Congenital Amaurosis 9 44 6.595
67
c BRD033 Bardet-Biedl Syndrome 13 43 6.595
68
P PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 65 6.445
69
c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 40 6.366
70
c LBR012 Leber Congenital Amaurosis 2 52 6.366
71
P SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 60 6.366
72
c NPH053 Nephronophthisis 11 44 6.366
73
c LBR016 Leber Congenital Amaurosis 6 42 6.366
74
c LBR018 Leber Congenital Amaurosis 8 47 6.366
75
c JBR028 Joubert Syndrome 13 41 6.366
76
P USH001 Usher Syndrome 64 6.366
77
P CNG010 Congenital Stationary Night Blindness 56 6.366
78
P LBR014 Leber Congenital Amaurosis 4 56 6.366
79
c JBR035 Joubert Syndrome 24 45 6.366
80
P PRM011 Primary Ciliary Dyskinesia 69 5.812
81
c RTN162 Retinitis Pigmentosa 2 45 5.812
82
c USH037 Usher Syndrome, Type Iia 48 5.812
83
c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 63 5.812
84
c BRD015 Bardet-Biedl Syndrome 3 48 5.812
85
c NPH030 Nephronophthisis 2 49 5.812
86
JHN001 Johanson-Blizzard Syndrome 52 5.812
87
c JBR004 Joubert Syndrome 2 48 5.812
88
P VSC013 Visceral Heterotaxy 53 5.812
89
c NPH067 Nephronophthisis 12 42 5.812
90
c NPH035 Nephronophthisis 9 44 5.812
91
CGN006 Cogan Syndrome 49 5.812
92
PHY002 Physical Disorder 41 5.812
93
P CRN323 Cranioectodermal Dysplasia 58 5.812
94
ASP005 Asphyxiating Thoracic Dystrophy 47 5.812
95
ELL001 Ellis-Van Creveld Syndrome 62 5.812
96
c MCK031 Meckel Syndrome, Type 2 45 5.812
97
LTN004 Late-Onset Retinal Degeneration 60 5.812
98
c NPH068 Nephronophthisis 16 43 5.812
99
c BRD012 Bardet-Biedl Syndrome 11 51 5.812
100
c NPH071 Nephronophthisis 14 44 5.812
101
c BRD047 Bardet-Biedl Syndrome 16 46 5.812
102
c NPH077 Nephronophthisis 19 38 5.812
103
c NPH033 Nephronophthisis 7 42 5.812
104
c JBR011 Joubert Syndrome 7 46 5.812
105
c JBR013 Joubert Syndrome 8 44 5.812
106
PSD008 Pseudopapilledema 33 5.812
107
c JBR041 Joubert Syndrome 3 53 5.812
108
RTN198 Retinal Aplasia 24 5.812
109
c JBR018 Joubert Syndrome 4 52 5.812
110
c USH035 Usher Syndrome Type 2 52 5.812
111
KRT010 Kartagener Syndrome 49 5.812
112
P RNL059 Renal-Hepatic-Pancreatic Dysplasia 34 5.812
113
ENP001 Enophthalmos 39 5.812
114
CHR079 Choroid Disease 37 5.812
115
EYD001 Eye Degenerative Disease 25 5.812
116
c NPH019 Nephronophthisis 1 52 5.047
117
c BRD016 Bardet-Biedl Syndrome 4 44 4.413
118
ATX038 Ataxia and Polyneuropathy, Adult-Onset 46 3.927
119
MCK005 Mckusick-Kaufman Syndrome 61 3.538
120
P HYP265 Hypotonia 42 2.880
121
c NPH032 Nephronophthisis 4 46 2.810
122
P CRB045 Cerebellar Hypoplasia 40 2.501
123
ATS010 Autosomal Recessive Disease 42 2.416
124
MNN022 Meningoencephalocele 21 2.405
125
OLG014 Oligocone Trichromacy 25 2.231
126
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 2.231
127
P ZNC008 Zinc Finger Protein 1 23 2.231
128
MLT084 Multicystic Dysplastic Kidney 42 2.231
129
HRD016 Hereditary Retinal Dystrophy 34 2.130
130
END086 End Stage Renal Disease 52 2.021
131
c CCH010 Coach Syndrome 2 13 2.021
132
c LBR015 Leber Congenital Amaurosis 5 42 1.919
133
P INF032 Infertility 57 1.903
134
c BRD014 Bardet-Biedl Syndrome 2 53 1.772
135
SRC027 Sarcoma, Synovial 58 1.624
136
c BRD017 Bardet-Biedl Syndrome 5 38 1.624
137
STS002 Situs Inversus 45 1.624
138
ABL002 Ablepharon-Macrostomia Syndrome 50 1.552
139
OCL015 Oculomotor Apraxia 39 1.466
140
P SCL018 Scoliosis 57 1.448
141
ALN001 Aland Island Eye Disease 55 1.417
142
CVT001 Cavitary Optic Disc Anomalies 37 1.417
143
VSL013 Visual Impairment and Progressive Phthisis Bulbi 36 1.417
144
P ATS364 Autism 69 1.357
145
SML031 Small Cell Carcinoma of the Bladder 46 1.283
146
P BLD134 Bladder Cancer 79 1.283
147
c ATS347 Autosomal Dominant Polycystic Kidney Disease 66 1.188
148
c DFN170 Deafness, Autosomal Recessive 31 39 1.108
149
P STR020 Strabismus 56 1.108
150
MCH006 Mechanical Strabismus 40 1.108
151
SPP007 Suppression Amblyopia 38 1.108
152
AMB002 Amblyopia 50 1.108
154
UNL014 Unilateral Multicystic Dysplastic Kidney 19 0.959
155
SHR107 Short Stature-Obesity Syndrome 25 0.959
156
c ATS007 Autism Spectrum Disorder 72 0.959
157
c BRD019 Bardet-Biedl Syndrome 7 43 0.959
158
c JBR025 Joubert Syndrome 17 44 0.959
159
P CNG048 Congenital Hepatic Fibrosis 36 0.959
160
ADL002 Adult Syndrome 70 0.896
161
CRB196 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 47 0.896
162
c MCK036 Meckel Syndrome, Type 9 24 0.783
163
P BRT053 Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 45 0.783
164
CRY035 Cryptorchidism, Unilateral or Bilateral 58 0.783
165
c NPH031 Nephronophthisis 3 46 0.783
166
RTN212 Retinal Dystrophy with or Without Macular Staphyloma 31 0.783
167
c LBR009 Leber Congenital Amaurosis 14 41 0.783
168
c BRD013 Bardet-Biedl Syndrome 12 44 0.783
169
P HYP730 Hypogonadotropic Hypogonadism 53 0.783
170
P KLL001 Kallmann Syndrome 65 0.783
171
c JBR026 Joubert Syndrome 15 42 0.783
172
P PRD008 Periodontitis 64 0.783
173
c CCH011 Coach Syndrome 3 12 0.783
174
OPT001 Optic Disk Drusen 34 0.783
175
P PTS002 Ptosis 52 0.783
176
P AGG001 Aggressive Periodontitis 55 0.783
177
HYP080 Hypogonadism 50 0.783
178
RFR003 Refractive Error 41 0.783
179
c BRT024 Bartter Syndrome Type 4 25 0.783
180
PNS014 Penis Agenesis 36 0.783
181
P EPS003 Episodic Ataxia 59 0.664
182
RHY001 Rhyns Syndrome 42 0.634
183
ALK023 Al Kaissi Syndrome 28 0.634
184
ANT039 Antisynthetase Syndrome 55 0.634
185
CRB027 Cerebellar Disease 47 0.634
186
P OVR042 Ovarian Cancer 88 0.573
187
P BRS047 Breast Cancer 98 0.573
188
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 0.554
189
SHR044 Short Rib-Polydactyly Syndrome 46 0.554
190
P SMP003 Simpson-Golabi-Behmel Syndrome 49 0.554
191
JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 32 0.554
192
P HRD217 Hereditary Optic Neuropathy 36 0.554
193
BTT011 Butterfly-Shaped Pigment Dystrophy 31 0.554
194
SYN124 Syndromic Inherited Retinal Disorder 11 0.554
195
SYN149 Syndromic Rod-Cone Dystrophy 21 0.554
196
RTN187 Retinitis Pigmentosa-Deafness Syndrome 48 0.554
197
c RTN052 Retinitis Pigmentosa 23 37 0.554
198
XQ2003 Xq25 Duplication Syndrome 19 0.554
199
c JBR016 Joubert Syndrome 10 42 0.554
200
c RTN058 Retinitis Pigmentosa 3 43 0.554
201
P RTN209 Retinoschisis 1, X-Linked, Juvenile 60 0.554
202
RTN017 Retinal Detachment 60 0.554
203
P MLT020 Multiple Sclerosis 79 0.554
204
P CLR023 Colorectal Cancer 100 0.554
205
GLL008 Gilles De La Tourette Syndrome 65 0.554
206
c LBR008 Leber Congenital Amaurosis 13 39 0.554
207
c LBR006 Leber Congenital Amaurosis 11 35 0.554
208
c MCK035 Meckel Syndrome, Type 10 25 0.554
209
c LBR011 Leber Congenital Amaurosis 16 38 0.554
210
c CNR013 Cone-Rod Dystrophy 12 36 0.554
211
c LBR017 Leber Congenital Amaurosis 7 37 0.554
212
c LBR010 Leber Congenital Amaurosis 15 39 0.554
213
P DXT004 Dextro-Looped Transposition of the Great Arteries 58 0.554
214
c PRM032 Primary Congenital Glaucoma 41 0.554
215
P OPT048 Opitz-Gbbb Syndrome 49 0.554
216
LGH007 Leigh Syndrome 70 0.554
217
NRL016 Neural Tube Defects 81 0.554
218
KRT019 Keratitis, Hereditary 66 0.554
219
GRG001 Greig Cephalopolysyndactyly Syndrome 64 0.554
220
c RTN056 Retinitis Pigmentosa 28 39 0.554
221
P ATR001 Atrioventricular Septal Defect 55 0.554
222
c BRD011 Bardet-Biedl Syndrome 10 49 0.554
223
P SHR085 Short-Rib Thoracic Dysplasia 14 with Polydactyly 40 0.554
224
INT323 Intraocular Pressure Quantitative Trait Locus 64 0.554
225
c LBR007 Leber Congenital Amaurosis 12 43 0.554
226
c RTN064 Retinitis Pigmentosa 35 36 0.554
227
P KLN006 Koolen-De Vries Syndrome 51 0.554
228
LBR038 Leber Hereditary Optic Neuropathy, Modifier of 62 0.554
229
BTT001 Bietti Crystalline Corneoretinal Dystrophy 48 0.554
230
DWN001 Down Syndrome 70 0.554
231
OCL069 Ocular Motor Apraxia 57 0.554
232
c MCK030 Meckel Syndrome, Type 7 49 0.554
233
c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 42 0.554
234
HRD224 Hereditary Nonpolyposis Colon Cancer 51 0.554
235
P PNT019 Pontocerebellar Hypoplasia 46 0.554
236
P MYP006 Myopia 56 0.554
237
P OPT006 Optic Nerve Disease 58 0.554
238
c RTN233 Retinitis Pigmentosa 89 20 0.554
239
CRN027 Corneal Neovascularization 47 0.554
240
CYT005 Cytomegalovirus Retinitis 50 0.554
241
KHN001 Kuhnt-Junius Degeneration 48 0.554
242
DMY004 Demyelinating Disease 50 0.554
243
16P010 16p11.2 Recurrent Microdeletion 7 0.554
244
XLN247 X-Linked Congenital Retinoschisis 20 0.554
245
16P008 16p11.2 Duplication 16 0.554
246
P JVN042 Juvenile Retinoschisis 39 0.554
247
CNG486 Congenital Disorders of N-Linked Glycosylation and Multiple Pathway 29 0.554
248
PDT025 Pediatric Multiple Sclerosis 35 0.554
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