Search results for abca4

266 hits were found for abca4

# Family MCID Name MIFTS Score
1
P STR022 Stargardt Disease 61 84.599
2
c STR084 Stargardt Disease 1 53 83.956
4
FND002 Fundus Dystrophy 55 53.114
5
P CNR004 Cone-Rod Dystrophy 2 74 52.909
6
P RTN008 Retinitis Pigmentosa 80 52.358
7
c CNR005 Cone-Rod Dystrophy 3 40 47.637
9
c RTN048 Retinitis Pigmentosa 19 39 35.991
10
RTN023 Retinitis 46 29.472
11
P CND005 Cone Dystrophy 47 25.281
12
P RTN016 Retinal Degeneration 52 24.693
13
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 24.028
14
P CNG010 Congenital Stationary Night Blindness 56 23.360
15
P RTN018 Retinal Disease 53 22.966
16
STR046 Stargardt Macular Degeneration 27 22.602
17
LBR036 Leber Plus Disease 66 21.871
18
P VTR007 Vitreoretinopathy 46 19.820
19
ISL145 Isolated Macular Dystrophy 22 18.900
20
ALN001 Aland Island Eye Disease 55 18.753
21
BTT001 Bietti Crystalline Corneoretinal Dystrophy 48 17.534
22
P EYD002 Eye Disease 57 16.793
23
NRR001 Neuroretinitis 42 15.957
24
P NGH001 Night Blindness 52 15.056
25
c CNR007 Cone-Rod Dystrophy 6 52 15.031
26
CLF027 Cleft Palate, Isolated 64 13.252
27
SCT002 Scotoma 42 12.734
28
c STR040 Stargardt Disease 3 34 10.430
29
MCL018 Macular Dystrophy, Concentric Annular 27 10.430
30
P TXC009 Toxic Maculopathy 21 10.418
31
CNG021 Congenital Toxoplasmosis 55 10.418
32
P TXP001 Toxoplasmosis 60 10.418
33
P ORF002 Orofacial Cleft 43 10.290
34
P PSD087 Pseudoxanthoma Elasticum 67 10.144
35
c INH030 Inherited Retinal Disorder 28 10.090
36
P EXD001 Exudative Vitreoretinopathy 56 9.634
37
c RTN058 Retinitis Pigmentosa 3 43 9.489
38
P RTN209 Retinoschisis 1, X-Linked, Juvenile 60 9.489
39
c GLC092 Glaucoma, Primary Open Angle 62 9.489
40
HRD016 Hereditary Retinal Dystrophy 34 9.190
41
DYS018 Dysostosis 44 8.547
42
CHR078 Chorioretinitis 51 8.508
43
MND028 Mandibulofacial Dysostosis with Mental Retardation 12 8.435
44
PRP026 Peripheral Retinal Degeneration 29 8.330
45
P USH001 Usher Syndrome 64 8.236
46
PTR034 Paternal Uniparental Disomy 19 7.482
47
P ACH003 Achromatopsia 62 7.482
48
c RTN061 Retinitis Pigmentosa 32 31 7.468
49
CHR081 Choroideremia 58 7.375
50
c JBR012 Joubert Syndrome 5 47 7.375
51
DYN002 Doyne Honeycomb Retinal Dystrophy 44 7.259
52
P VTL001 Vitelliform Macular Dystrophy 46 7.259
53
LTN004 Late-Onset Retinal Degeneration 60 7.259
54
P BRD002 Bardet-Biedl Syndrome 66 7.259
55
P CLR019 Color Blindness 48 7.259
56
PTH003 Pathologic Nystagmus 52 7.131
57
OCC002 Occult Macular Dystrophy 46 6.985
58
LBR038 Leber Hereditary Optic Neuropathy, Modifier of 62 6.985
59
c ATS013 Autosomal Recessive Congenital Ichthyosis 66 6.812
60
GYR004 Gyrate Atrophy of Choroid and Retina 58 6.587
61
FND001 Fundus Albipunctatus 55 6.587
62
RDG001 Red-Green Color Blindness 28 6.587
63
c USH037 Usher Syndrome, Type Iia 48 6.044
64
MCL027 Macular Dystrophy, Dominant Cystoid 51 6.044
65
c NYS003 Nystagmus 2, Congenital, Autosomal Dominant 32 6.044
66
P VND007 Van Der Woude Syndrome 1 60 6.044
67
BSL037 Basal Laminar Drusen 41 6.044
68
ATS009 Autosomal Genetic Disease 25 6.044
70
P CNT116 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 54 6.044
71
c NYS016 Nystagmus 7, Congenital, Autosomal Dominant 28 6.044
72
BST008 Bestrophinopathy, Autosomal Recessive 46 6.044
74
P CHR637 Choroidal Dystrophy, Central Areolar, 1 49 6.044
75
VTR010 Vitreoretinochoroidopathy 49 6.044
76
c NYS005 Nystagmus 4, Congenital, Autosomal Dominant 32 6.044
77
OPT070 Optic Nerve Hypoplasia, Bilateral 56 6.044
78
PGM007 Pigmented Paravenous Chorioretinal Atrophy 42 6.044
79
c USH035 Usher Syndrome Type 2 52 6.044
80
PRT032 Partial Central Choroid Dystrophy 20 6.044
81
DGN003 Degeneration of Macula and Posterior Pole 29 6.044
82
INT012 Interval Angle-Closure Glaucoma 22 6.044
83
HYP081 Hypolipoproteinemia 49 6.044
84
CHR008 Choroiditis 48 6.044
85
CHR077 Chorioretinal Scar 28 6.044
86
RTN006 Retinal Drusen 34 6.044
87
CHR079 Choroid Disease 37 6.044
88
SLR002 Solar Retinopathy 28 6.044
89
HRD019 Hereditary Choroidal Atrophy 24 6.044
90
EYD001 Eye Degenerative Disease 25 6.044
91
CLF001 Cleft Lip 53 4.833
92
CLF056 Cleft Lip with or Without Cleft Palate 42 4.257
93
CLF004 Cleft Lip/palate 57 2.760
94
NRT004 Neuritis 53 2.651
95
P OCL001 Ocular Albinism 48 2.646
96
ALB002 Albinism 47 2.646
97
c DWL002 Dowling-Degos Disease 1 58 2.557
98
TNG002 Tangier Disease 64 2.538
99
P MYP006 Myopia 56 2.458
100
c NNS043 Nonsyndromic Retinitis Pigmentosa 27 2.374
101
48X005 48,xyyy 39 2.286
102
RTN187 Retinitis Pigmentosa-Deafness Syndrome 48 2.193
103
c RTN042 Retinitis Pigmentosa 12 41 2.193
104
ATS010 Autosomal Recessive Disease 42 2.193
105
SYN149 Syndromic Rod-Cone Dystrophy 21 2.093
106
RTN017 Retinal Detachment 60 2.093
107
47X002 47,xyy 48 1.987
108
P FBR017 Fibrosarcoma 56 1.987
109
MCL006 Macular Retinal Edema 57 1.987
110
P NRP001 Neuropathy 60 1.883
111
P PRP019 Peripheral Nervous System Disease 58 1.883
112
VTR013 Vitreoretinopathy, Neovascular Inflammatory 62 1.871
113
PTT063 Pattern Dystrophy 36 1.803
114
LMN011 Laminopathy 34 1.742
115
CYS001 Cystic Fibrosis 78 1.742
116
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 1.742
117
c BRD014 Bardet-Biedl Syndrome 2 53 1.742
118
c MCR115 Microvascular Complications of Diabetes 5 65 1.631
119
c STR054 Stargardt Disease 4 27 1.597
120
DSS032 Disease by Infectious Agent 55 1.597
121
P HYD006 Hydrocephalus 61 1.597
122
P ANR048 Aniridia 1 64 1.479
123
MCK005 Mckusick-Kaufman Syndrome 61 1.424
124
CTS003 Coats Disease 53 1.424
125
c DNR003 Duane Retraction Syndrome 1 37 1.424
126
c NGH008 Night Blindness, Congenital Stationary, Autosomal Dominant 3 36 1.424
127
c ORF048 Orofacial Cleft 1 30 1.424
128
PST092 Posttransplant Acute Limbic Encephalitis 28 1.424
130
c ATS168 Autosomal Dominant Congenital Stationary Night Blindness 24 1.424
131
GLM045 Glioma 63 1.397
132
RFR003 Refractive Error 41 1.331
133
ARM010 Arima Syndrome 56 1.331
134
c MCL066 Macular Dystrophy, Vitelliform, 2 48 1.215
135
SRS007 Sorsby Fundus Dystrophy 51 1.215
136
c ORF037 Orofaciodigital Syndrome I 59 1.199
137
c BRD010 Bardet-Biedl Syndrome 1 64 1.087
138
P HRD217 Hereditary Optic Neuropathy 36 1.087
139
c CNR026 Cone-Rod Dystrophy 18 29 1.087
140
P RTN024 Retinoblastoma 73 1.087
141
P OPT006 Optic Nerve Disease 58 1.087
142
P BRS047 Breast Cancer 98 1.076
143
ESP021 Esophageal Cancer 83 0.955
144
MLT117 Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus 9 0.941
145
c MCL060 Macular Dystrophy, Vitelliform, 3 42 0.941
146
OVR105 Ovarian Serous Carcinoma 37 0.941
147
P OPN001 Open-Angle Glaucoma 55 0.941
148
P RRH023 Rare Hereditary Hemochromatosis 54 0.941
149
HMS001 Hemosiderosis 48 0.941
150
P RSP003 Respiratory Failure 74 0.941
151
P ICH004 Ichthyosis 56 0.941
152
P JVN042 Juvenile Retinoschisis 39 0.941
153
c GLM047 Glioma Susceptibility 3 33 0.854
154
c MSM022 Mismatch Repair Cancer Syndrome 1 70 0.854
155
c GLM025 Glioma Susceptibility 2 30 0.854
156
c GLM043 Glioma Susceptibility 9 30 0.854
157
P GLM040 Glioma Susceptibility 1 71 0.854
158
MNN043 Meningioma, Familial 79 0.854
159
P OLG002 Oligodendroglioma 66 0.854
160
ISL109 Isolated Cleft Lip 33 0.769
161
SHR107 Short Stature-Obesity Syndrome 25 0.769
162
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 0.769
163
PRL047 Prolonged Electroretinal Response Suppression 43 0.769
164
P FML011 Familial Adenomatous Polyposis 71 0.769
165
MSC007 Muscle Hypertrophy 64 0.769
166
DFC004 Deficiency Anemia 74 0.769
167
P KRT014 Keratosis Follicularis Spinulosa Decalvans 31 0.769
168
c SPL067 Split-Hand/foot Malformation 1 46 0.769
169
c HYP841 Hypoalphalipoproteinemia, Primary, 1 49 0.769
170
c CNR029 Cone-Rod Dystrophy 19 23 0.769
171
P STR020 Strabismus 56 0.769
172
DRR014 Darier-White Disease 59 0.769
173
P HYP087 Hypotrichosis 42 0.769
174
MCH006 Mechanical Strabismus 40 0.769
175
ORF053 Orofacial Clefting Syndrome 31 0.769
176
ISL121 Isolated Split Hand-Split Foot Malformation 41 0.769
177
ADN018 Adenoma 59 0.769
178
PRP016 Paraplegia 52 0.769
179
P CTR002 Cataract 60 0.769
180
c NGH029 Night Blindness, Congenital Stationary, Type 1e 37 0.769
181
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.769
182
SPP007 Suppression Amblyopia 38 0.769
183
AMB002 Amblyopia 50 0.769
184
P UVT001 Uveitis 57 0.769
185
P NRN021 Neuronal Ceroid Lipofuscinosis 65 0.769
186
KRT009 Keratosis 53 0.769
187
P ECT006 Ectodermal Dysplasia 63 0.769
188
P STC001 Stickler Syndrome 60 0.769
189
NNT004 Neonatal Respiratory Failure 36 0.769
190
P CRN025 Corneal Dystrophy 49 0.769
191
P HYP121 Hypoalphalipoproteinemia 43 0.769
192
XLN247 X-Linked Congenital Retinoschisis 20 0.769
193
CHR682 Chronic Bilirubin Encephalopathy 37 0.711
194
AGN016 Aging 54 0.711
195
CRC045 Carcinoma of Gallbladder and Extrahepatic Biliary Tract 21 0.604
196
SQM016 Squamous Cell Carcinoma of Gallbladder and Extrahepatic Biliary Tract 16 0.604
197
P BLD062 Bile Duct Cancer 67 0.604
198
ADR022 Adrenomyeloneuropathy 39 0.544
199
SYN128 Syndromic Macular Dystrophy 4 0.544
200
P ALP061 Alopecia, Androgenetic, 1 49 0.544
201
c RTN162 Retinitis Pigmentosa 2 45 0.544
202
ATX038 Ataxia and Polyneuropathy, Adult-Onset 46 0.544
203
ADR007 Adrenoleukodystrophy 73 0.544
204
c RTN052 Retinitis Pigmentosa 23 37 0.544
205
c CNR038 Cone-Rod Dystrophy, X-Linked, 3 36 0.544
206
c LBR012 Leber Congenital Amaurosis 2 52 0.544
207
RTN203 Retinal Dystrophy, Reticular Pigmentary, of Posterior Pole 11 0.544
208
c OPT053 Optic Atrophy 1 62 0.544
209
c EXD008 Exudative Vitreoretinopathy 1 71 0.544
210
c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 52 0.544
211
P EXN002 Exanthem 58 0.544
212
c RTN147 Retinitis Pigmentosa 48 30 0.544
213
TTH002 Tooth Agenesis 61 0.544
214
c CNR017 Cone-Rod Dystrophy 9 32 0.544
215
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 0.544
216
c RTN085 Retinitis Pigmentosa 54 38 0.544
217
P ANT088 Anterior Segment Dysgenesis 55 0.544
218
AND014 Androgenic Alopecia 47 0.544
219
NNL005 Non-Alcoholic Fatty Liver Disease 63 0.544
220
c CND011 Cone Dystrophy 3 40 0.544
221
CRP032 Corpus Callosum, Agenesis of 49 0.544
222
c NPH019 Nephronophthisis 1 52 0.544
223
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 68 0.544
224
c CNR023 Cone-Rod Dystrophy 8 31 0.544
225
c RTN090 Retinitis Pigmentosa 55 38 0.544
226
c BRD019 Bardet-Biedl Syndrome 7 43 0.544
227
RTN212 Retinal Dystrophy with or Without Macular Staphyloma 31 0.544
228
c PTN013 Patent Ductus Arteriosus 2 21 0.544
229
c RTN133 Retinitis Pigmentosa 43 29 0.544
230
c RTN064 Retinitis Pigmentosa 35 36 0.544
231
c LBR019 Leber Congenital Amaurosis 9 44 0.544
232
P SHW006 Shwachman-Diamond Syndrome 1 66 0.544
233
TTH030 Teeth, Supernumerary 33 0.544
234
c SPN291 Spinocerebellar Ataxia 7 53 0.544
236
c RTN130 Retinitis Pigmentosa 46 40 0.544
237
c SRF005 Surfactant Metabolism Dysfunction, Pulmonary, 3 35 0.544
238
P HYP077 Hypertrichosis 46 0.544
239
P HMC002 Homocystinuria 53 0.544
240
FTT001 Fatty Liver Disease 62 0.544
241
GLL048 Glial Tumor 52 0.544
242
P ALP008 Alopecia 54 0.544
243
P MTH008 Methylmalonic Acidemia 52 0.544
244
SKN016 Skin Disease 63 0.544
245
LNG099 Lung Disease 62 0.544
246
BLR008 Bilirubin Metabolic Disorder 57 0.544
247
RTN020 Retinal Vascular Disease 46 0.544
248
HGH043 High Grade Glioma 45 0.544
249
IRN001 Iron Deficiency Anemia 58 0.544
250
KRT002 Keratomalacia 55 0.544
251
MCR013 Microphthalmia 60 0.544
252
THY020 Thyroid Hyalinizing Trabecular Adenoma 20 0.544
253
INT066 Interstitial Lung Disease 60 0.544
254
LPD008 Lipid Metabolism Disorder 62 0.544
255
P TCD001 Tic Disorder 49 0.544
256
LYS002 Lysosomal Storage Disease 51 0.544
257
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 0.544
258
IRN002 Iron Metabolism Disease 57 0.544
259
RTN021 Retinal Vascular Occlusion 45 0.544
260
CLR033 Color Vision Deficiency 40 0.544
261
SX2004 Sox2 Disorder 13 0.544
262
CYT002 Cytokine Deficiency 43 0.544
263
MTH021 Methylmalonic Acidemia with Homocystinuria 44 0.544
264
P OVR042 Ovarian Cancer 88 0.533
265
P PNC035 Pancreatic Cancer 86 0.533
266
P LKM062 Leukemia, Acute Lymphoblastic 69 0.533
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