Search results for "[genes] GJB6"

44 hits were found for '[genes] GJB6'

# Family MCID Name MIFTS Score
1
ECT078 Ectodermal Dysplasia 2, Clouston Type 49 21.290
2
SNS001 Sensorineural Hearing Loss 56 17.383
3
ECT006 Ectodermal Dysplasia 52 17.383
4
c DFN102 Deafness, Autosomal Dominant 3b 17 17.383
5
c DFN103 Deafness, Autosomal Recessive 1b 32 14.194
6
SKN016 Skin Disease 71 12.292
7
P PCH001 Pachyonychia Congenita 55 12.292
8
KDS001 Kid Syndrome 52 12.292
9
c NNS007 Nonsyndromic Deafness 42 12.292
10
DFN038 Dfnb1 30 12.292
11
HDR007 Hidrotic Ectodermal Dysplasia 2 11 12.292
12
KRT001 Keratoconjunctivitis Sicca 62 10.036
13
CNT007 Central Nervous System Tuberculosis 54 10.036
14
INN002 Inner Ear Disease 51 10.036
15
ADT003 Auditory System Disease 48 10.036
16
TST015 Testicular Disease 48 10.036
17
ERY021 Erythrokeratodermia Variabilis Et Progressiva 46 10.036
18
c TYR013 Tyrosinemia, Type Ii 46 10.036
19
CRN024 Corneal Disease 46 10.036
20
INT003 Intracranial Hypotension 41 10.036
21
DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 40 10.036
22
P ADT004 Auditory Neuropathy 39 10.036
23
INF001 Infarct of Liver 37 10.036
24
HDG001 Hodgkin's Lymphoma, Nodular Sclerosis 37 10.036
25
BRT001 Bart-Pumphrey Syndrome 37 10.036
26
OBS004 Obstructive Hydrocephalus 36 10.036
27
CNG069 Congenital Cytomegalovirus 35 10.036
28
ORC001 Orchitis 33 10.036
29
BRN008 Brain Compression 32 10.036
30
BNG033 Benign Perivascular Tumor 29 10.036
31
CRD007 Cardiovascular Organ Benign Neoplasm 28 10.036
32
SPH007 Sphenoid Sinusitis 25 10.036
33
PSD026 Pseudoainhum 24 10.036
34
NNS014 Nonsyndromic Hearing Loss and Deafness 24 10.036
35
NNS009 Nonsyndromic Hearing Loss and Deafness, Dfnb1 20 10.036
36
GLM002 Glomangiomatosis 17 10.036
37
NNS008 Nonsyndromic Hearing Loss and Deafness, Dfna3 16 10.036
38
c DFN097 Deafness, Autosomal Recessive 1a 36 7.097
39
ATS251 Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna 27 7.097
40
ATS252 Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb 24 7.097
41
GJB005 Gjb6-Related Dfna 3 Nonsyndromic Hearing Loss and Deafness 9 7.097
42
GJB006 Gjb6-Related Dfnb 1 Nonsyndromic Hearing Loss and Deafness 9 7.097
43
DFN042 Dfna 3 Nonsyndromic Hearing Loss and Deafness 7 7.097
44
DFN063 Dfnb 1 Nonsyndromic Hearing Loss and Deafness 7 7.097