Search results for "GJB6"

33 hits were found for 'GJB6'

# Family MCID Name MIFTS Score
1
HDR007 Hidrotic Ectodermal Dysplasia 2 19 5.359
2
ECT006 Ectodermal Dysplasia 48 5.317
3
DFN038 Dfnb1 29 5.272
4
ECT078 Ectodermal Dysplasia 2, Clouston Type 31 4.658
5
SNS001 Sensorineural Hearing Loss 48 3.744
6
NNS014 Nonsyndromic Hearing Loss and Deafness 25 3.674
7
c DFN102 Deafness, Autosomal Dominant 3b 15 3.260
8
KDS001 Kid Syndrome 46 3.223
9
DFN042 Dfna 3 Nonsyndromic Hearing Loss and Deafness 18 3.181
10
DFN063 Dfnb 1 Nonsyndromic Hearing Loss and Deafness 17 3.181
11
ATS251 Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna 28 2.689
12
PSD026 Pseudoainhum 24 2.689
13
P PCH001 Pachyonychia Congenita 54 2.647
14
CNG069 Congenital Cytomegalovirus 42 2.647
15
ATS252 Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb 28 2.647
16
c DFN103 Deafness, Autosomal Recessive 1b 17 2.647
17
PRP023 Peripheral Neuropathy 44 2.598
18
PLM029 Palmoplantar Keratosis 33 2.598
19
P ADT004 Auditory Neuropathy 33 2.598
20
BRT001 Bart-Pumphrey Syndrome 32 2.598
21
NNS009 Nonsyndromic Hearing Loss and Deafness, Dfnb1 18 2.598
22
NNS008 Nonsyndromic Hearing Loss and Deafness, Dfna3 15 2.598
23
c DFN097 Deafness, Autosomal Recessive 1a 38 1.837
24
GJB005 Gjb6-Related Dfna 3 Nonsyndromic Hearing Loss and Deafness 4 1.837
25
GJB006 Gjb6-Related Dfnb 1 Nonsyndromic Hearing Loss and Deafness 4 1.837
26
c NNS007 Nonsyndromic Deafness 34 0.135
27
P HNT016 Huntington Disease 80 0.078
28
KRT004 Keratitis 60 0.078
29
ALP008 Alopecia 51 0.078
30
KRT012 Keratoderma 39 0.078
31
CYT008 Cytomegalovirus Infection 39 0.078
32
c MSC113 Muscular Dystrophy, Limb-Girdle, Type 2b 37 0.078
33
c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 28 0.078