Search results for RPE65

118 hits were found for RPE65

# Family MCID Name MIFTS Score
1
c LBR012 Leber Congenital Amaurosis 2 51 5.431
2
P RTN008 Retinitis Pigmentosa 79 5.257
3
c RTN050 Retinitis Pigmentosa 20 37 5.225
4
c INH030 Inherited Retinal Disorder 51 5.219
5
LBR036 Leber Plus Disease 66 3.875
6
P RTN016 Retinal Degeneration 53 3.776
7
RTN023 Retinitis 46 3.621
8
FND002 Fundus Dystrophy 55 2.879
9
P NGH001 Night Blindness 48 2.646
10
P CNR004 Cone-Rod Dystrophy 2 73 2.630
11
RTN229 Retinitis Pigmentosa 87 with Choroidal Involvement 17 2.614
12
P CND005 Cone Dystrophy 43 2.598
13
P CNG010 Congenital Stationary Night Blindness 54 2.499
14
P KRT007 Keratoconus 50 2.417
15
P RTN018 Retinal Disease 53 2.415
16
PTH003 Pathologic Nystagmus 52 2.295
18
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 2.133
19
CHR081 Choroideremia 57 2.114
20
P ATS364 Autism 70 2.067
21
FND001 Fundus Albipunctatus 60 2.067
22
ALN001 Aland Island Eye Disease 50 2.067
23
SVR058 Severe Early-Childhood-Onset Retinal Dystrophy 38 2.040
24
RTN209 Retinoschisis 1, X-Linked, Juvenile 62 2.010
25
c ATM099 Autoimmune Uveitis 45 2.010
26
P JBR020 Joubert Syndrome 1 72 1.974
27
c USH036 Usher Syndrome, Type I 60 1.974
28
c USH038 Usher Syndrome, Type Iiia 50 1.974
30
ACT238 Acth Deficiency, Isolated 52 1.641
31
P LBR014 Leber Congenital Amaurosis 4 56 1.623
32
c LTN004 Late-Onset Retinal Degeneration 59 1.583
33
P LBR033 Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy 22 1.583
34
EYD002 Eye Disease 58 1.560
35
P STR022 Stargardt Disease 58 1.509
36
P USH001 Usher Syndrome 60 1.479
37
P BRD002 Bardet-Biedl Syndrome 66 1.443
38
P END047 Endophthalmitis 53 1.443
39
c LBR013 Leber Congenital Amaurosis 3 45 1.443
40
P VTL001 Vitelliform Macular Dystrophy 42 1.443
41
c HMP004 Hemophilia B 68 1.396
42
ACR006 Aceruloplasminemia 65 1.396
43
VTR013 Vitreoretinopathy, Neovascular Inflammatory 62 1.396
44
P ACH003 Achromatopsia 61 1.396
45
LBR030 Leber Optic Atrophy 60 1.396
46
GYR004 Gyrate Atrophy of Choroid and Retina 57 1.396
47
ENH001 Enhanced S-Cone Syndrome 57 1.396
48
P SNR003 Senior-Loken Syndrome 1 56 1.396
49
OPT070 Optic Nerve Hypoplasia, Bilateral 56 1.396
50
c CNR007 Cone-Rod Dystrophy 6 53 1.396
51
BTT001 Bietti Crystalline Corneoretinal Dystrophy 52 1.396
52
c LBR004 Leber Congenital Amaurosis 1 52 1.396
53
VTR010 Vitreoretinochoroidopathy 51 1.396
54
MCL027 Macular Dystrophy, Dominant Cystoid 50 1.396
55
P CHR637 Choroidal Dystrophy, Central Areolar, 1 50 1.396
56
c USH035 Usher Syndrome Type 2 48 1.396
57
P CLR019 Color Blindness 48 1.396
58
BST008 Bestrophinopathy, Autosomal Recessive 46 1.396
59
c LBR005 Leber Congenital Amaurosis 10 45 1.396
60
c LBR018 Leber Congenital Amaurosis 8 45 1.396
61
SCT002 Scotoma 44 1.396
62
c LBR019 Leber Congenital Amaurosis 9 44 1.396
63
OLV004 Oliver-Mcfarlane Syndrome 43 1.396
64
c LBR007 Leber Congenital Amaurosis 12 43 1.396
65
BLD161 Blood Group, Globoside System 41 1.396
66
MCL003 Macular Holes 40 1.396
67
VTR005 Vitreous Disease 39 1.396
68
RTN002 Retinal Perforation 38 1.396
69
c ACH023 Achromatopsia 4 38 1.396
71
CHR079 Choroid Disease 37 1.396
72
P NNP021 Nanophthalmos 36 1.396
73
UVL010 Uveal Disease 35 1.396
74
HRD016 Hereditary Retinal Dystrophy 35 1.396
75
P LNS003 Lens Disease 34 1.396
76
PSD008 Pseudopapilledema 33 1.396
77
DGN003 Degeneration of Macula and Posterior Pole 29 1.396
78
RDG001 Red-Green Color Blindness 29 1.396
79
OCL004 Ocular Hyperemia 26 1.396
80
EYD001 Eye Degenerative Disease 24 1.396
81
NRR001 Neuroretinitis 42 0.355
82
RTN017 Retinal Detachment 61 0.080
83
P UVT001 Uveitis 57 0.080
84
c NRF023 Neurofibromatosis, Type Ii 80 0.057
85
SVR004 Severe Combined Immunodeficiency 73 0.057
86
c BSL007 Basal Cell Carcinoma 68 0.057
87
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 67 0.057
88
P TRN020 Turner Syndrome 67 0.057
89
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 66 0.057
90
P MCR115 Microvascular Complications of Diabetes 5 66 0.057
91
PRT037 Pertussis 65 0.057
92
P CTR002 Cataract 60 0.057
93
MCR013 Microphthalmia 57 0.057
94
P CNT116 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 54 0.057
95
P ICH004 Ichthyosis 54 0.057
96
HYP276 Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant 54 0.057
97
P ACT008 Actinic Keratosis 53 0.057
98
P TRT010 Teratoma 52 0.057
99
KRT009 Keratosis 51 0.057
100
ATS010 Autosomal Recessive Disease 48 0.057
101
KRT002 Keratomalacia 47 0.057
102
c CLR017 Clear Cell Sarcoma 45 0.057
103
CNG029 Congenital Mesoblastic Nephroma 44 0.057
104
RTN187 Retinitis Pigmentosa-Deafness Syndrome 42 0.057
105
c LBR009 Leber Congenital Amaurosis 14 42 0.057
106
ATX019 Ataxia with Vitamin E Deficiency 42 0.057
107
VSL013 Visual Impairment and Progressive Phthisis Bulbi 41 0.057
108
ICH020 Ichthyosis Prematurity Syndrome 40 0.057
109
c LBR008 Leber Congenital Amaurosis 13 40 0.057
110
c LBR010 Leber Congenital Amaurosis 15 39 0.057
111
RPD005 Rapidly Involuting Congenital Hemangioma 38 0.057
112
CVT001 Cavitary Optic Disc Anomalies 38 0.057
113
NPH113 Nephroma 37 0.057
114
P CNG024 Congenital Nystagmus 36 0.057
115
c RTN142 Retinitis Pigmentosa 38 35 0.057
116
STR046 Stargardt Macular Degeneration 31 0.057
117
PST092 Posttransplant Acute Limbic Encephalitis 29 0.057
118
c NNS043 Nonsyndromic Retinitis Pigmentosa 27 0.057
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