Search results for gja8

51 hits were found for gja8

# Family MCID Name MIFTS Score
1
c CTR098 Cataract 1, Multiple Types 46 5.870
2
P CTR002 Cataract 60 4.913
3
CTR014 Cataract Microcornea Syndrome 26 3.204
4
MCR013 Microphthalmia 57 2.681
5
1Q2003 1q21.1 Recurrent Microdeletion 23 2.681
6
EYD002 Eye Disease 58 2.549
7
P SCL047 Sclerocornea 32 2.515
8
c ART115 Aortic Valve Disease 1 75 2.431
9
P CNG024 Congenital Nystagmus 36 2.431
10
c CTR130 Cataract 9, Multiple Types 39 1.824
11
P LNS003 Lens Disease 34 1.824
12
c CTR170 Cataract 30, Multiple Types 35 1.778
13
c CTR145 Cataract 44 34 1.778
14
P ERL043 Early-Onset Nuclear Cataract 23 1.778
15
ERL040 Early-Onset Sutural Cataract 16 1.778
16
c SCL053 Sclerocornea, Autosomal Dominant 12 1.778
17
P OCL013 Oculodentodigital Dysplasia 69 1.719
18
P CHR071 Charcot-Marie-Tooth Disease 65 1.719
19
P EPL140 Epilepsy, Idiopathic Generalized 62 1.719
20
P EPL198 Epilepsy, Myoclonic Juvenile 62 1.719
21
P CHL002 Childhood Absence Epilepsy 61 1.719
22
BNG009 Benign Epilepsy with Centrotemporal Spikes 58 1.719
23
P ERY053 Erythrokeratodermia Variabilis Et Progressiva 1 57 1.719
24
P JVN007 Juvenile Absence Epilepsy 47 1.719
25
c CTR118 Cataract 14, Multiple Types 41 1.719
26
EPL001 Epilepsy with Generalized Tonic-Clonic Seizures 40 1.719
27
PHT008 Photosensitive Epilepsy 39 1.719
28
c CHR064 Chronic Monocytic Leukemia 33 1.719
29
c EPL098 Epilepsy, Idiopathic Generalized 12 31 1.719
30
P ELC007 Electroclinical Syndrome 30 1.719
31
c ERL003 Early Onset Absence Epilepsy 28 1.719
32
c HRD100 Hereditary Lymphedema Ic 24 1.719
33
CHL058 Childhood Electroclinical Syndrome 24 1.719
34
ADL051 Adolescence-Adult Electroclinical Syndrome 24 1.719
35
NNS006 Non-Suppurative Otitis Media 19 1.719
36
FLY001 Flying Phobia 17 1.719
37
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.176
38
CHR583 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 40 0.160
39
P SCH015 Schizophrenia 74 0.143
40
CHR225 Chromosome 1q21.1 Duplication Syndrome 33 0.143
41
c ATS007 Autism Spectrum Disorder 67 0.101
42
FRY006 Fryns Microphthalmia Syndrome 52 0.101
43
CLB010 Coloboma of Macula 52 0.101
44
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 67 0.072
45
PTR032 Peters-Plus Syndrome 63 0.072
46
P MYP006 Myopia 55 0.072
47
BKR002 Baker-Gordon Syndrome 49 0.072
48
JNT004 Joint Laxity, Short Stature, and Myopia 45 0.072
49
c CTR103 Cataract 4, Multiple Types 45 0.072
50
SNL007 Senile Cataract 42 0.072
51
CNG005 Congenital Aphakia 23 0.072
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