Search results for USH2A

89 hits were found for USH2A

# Family MCID Name MIFTS Score
1
c USH037 Usher Syndrome, Type Iia 48 23.976
2
c INH030 Inherited Retinal Disorder 51 20.310
3
c RTN141 Retinitis Pigmentosa 39 38 7.948
4
P RTN008 Retinitis Pigmentosa 79 7.112
5
P USH001 Usher Syndrome 60 6.010
6
FND002 Fundus Dystrophy 55 5.490
7
c USH035 Usher Syndrome Type 2 48 4.759
8
RTN023 Retinitis 46 4.246
9
RRG078 Rare Genetic Deafness 29 3.845
10
P SNS001 Sensorineural Hearing Loss 60 3.348
11
P CNG010 Congenital Stationary Night Blindness 54 2.854
12
P DST002 Distal Arthrogryposis 63 2.833
13
LBR036 Leber Plus Disease 66 2.586
14
c USH036 Usher Syndrome, Type I 60 2.527
15
P RTN018 Retinal Disease 53 2.511
16
P CNR004 Cone-Rod Dystrophy 2 73 2.494
17
P RTN016 Retinal Degeneration 53 2.440
18
ANX010 Anxiety 73 2.355
19
P NGH001 Night Blindness 48 2.355
20
P CHR345 Chronic Pain 44 2.355
21
P DYS021 Dysautonomia 39 2.355
22
P NNS072 Nonsyndromic Hearing Loss 41 2.304
23
P CND005 Cone Dystrophy 43 2.274
25
P BRD002 Bardet-Biedl Syndrome 66 2.200
26
c USH038 Usher Syndrome, Type Iiia 50 2.200
27
ATS010 Autosomal Recessive Disease 48 1.995
28
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 1.919
29
c BRN108 Branchiootic Syndrome 1 62 1.867
30
AMB002 Amblyopia 49 1.712
31
c NNS043 Nonsyndromic Retinitis Pigmentosa 27 1.712
32
EYD002 Eye Disease 58 1.682
33
NNS044 Non-Syndromic Genetic Deafness 26 1.682
34
c USH020 Usher Syndrome, Type Iic 45 1.648
35
c LTN004 Late-Onset Retinal Degeneration 59 1.608
36
CHR081 Choroideremia 57 1.608
37
c USH041 Usher Syndrome, Type if 44 1.608
38
c USH021 Usher Syndrome, Type Iid 42 1.608
39
c DFN170 Deafness, Autosomal Recessive 31 40 1.608
40
P ACH003 Achromatopsia 61 1.555
41
P STR022 Stargardt Disease 58 1.555
42
P SNR003 Senior-Loken Syndrome 1 56 1.555
43
LGN006 Legionnaire Disease 52 1.555
44
PTH003 Pathologic Nystagmus 52 1.555
45
MCL027 Macular Dystrophy, Dominant Cystoid 50 1.555
46
ADT003 Auditory System Disease 48 1.555
47
c USH040 Usher Syndrome, Type Id 47 1.555
48
c DFN141 Deafness, Autosomal Recessive 12 45 1.555
49
c USH044 Usher Syndrome, Type Iiib 42 1.555
50
CHR079 Choroid Disease 37 1.555
51
c USH031 Usher Syndrome, Type Ij 36 1.555
52
HRD016 Hereditary Retinal Dystrophy 35 1.555
53
c DFN274 Deafness, Autosomal Dominant 56 35 1.555
54
c USH043 Usher Syndrome, Type Ih 31 1.555
55
c ATS005 Autosomal Dominant Nonsyndromic Deafness 26 1.555
56
c ATS009 Autosomal Genetic Disease 25 1.555
57
c DFN158 Deafness, Autosomal Dominant 49 25 1.555
58
DGN006 Digenic Disease 25 1.555
59
EYD001 Eye Degenerative Disease 24 1.555
60
RTN187 Retinitis Pigmentosa-Deafness Syndrome 42 0.610
61
NRR001 Neuroretinitis 42 0.506
62
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.210
63
P JBR020 Joubert Syndrome 1 72 0.127
64
c CNR007 Cone-Rod Dystrophy 6 53 0.127
65
CRB215 Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay 32 0.127
66
ISL120 Isolated Cerebellar Agenesis 27 0.127
67
SYN149 Syndromic Rod-Cone Dystrophy 22 0.110
68
P PRS040 Prostate Cancer 97 0.089
69
c RTN134 Retinitis Pigmentosa 40 32 0.089
70
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 67 0.063
71
RTN209 Retinoschisis 1, X-Linked, Juvenile 62 0.063
72
P SCL018 Scoliosis 60 0.063
73
c ORF037 Orofaciodigital Syndrome I 60 0.063
74
P CTR002 Cataract 60 0.063
75
P MTR012 Mitral Valve Disease 58 0.063
76
P LBR014 Leber Congenital Amaurosis 4 56 0.063
77
ABL002 Ablepharon-Macrostomia Syndrome 53 0.063
78
ALN001 Aland Island Eye Disease 50 0.063
79
c RTN162 Retinitis Pigmentosa 2 45 0.063
80
c USH039 Usher Syndrome, Type Ic 44 0.063
81
CLP005 Ciliopathy 43 0.063
82
VSL013 Visual Impairment and Progressive Phthisis Bulbi 41 0.063
83
CVT001 Cavitary Optic Disc Anomalies 38 0.063
84
CHR178 Chromosomal Triplication 35 0.063
85
c NNS007 Nonsyndromic Deafness 35 0.063
86
NND010 Nondisjunction 34 0.063
87
c DFN137 Deafness, Autosomal Dominant 13 33 0.063
88
MTR087 Maternal Uniparental Disomy 30 0.063
89
c USH011 Usher Syndrome, Type 2b 11 0.063
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