Search results for "[genes] GJB6"

44 hits were found for '[genes] GJB6'

# Family MCID Name MIFTS Score
1
ECT078 Ectodermal Dysplasia 2, Clouston Type 50 21.290
2
ECT006 Ectodermal Dysplasia 45 17.383
3
SNS001 Sensorineural Hearing Loss 44 17.383
4
c DFN102 Deafness, Autosomal Dominant 3b 21 17.383
5
c DFN103 Deafness, Autosomal Recessive 1b 33 14.194
6
SKN016 Skin Disease 58 12.292
7
P PCH001 Pachyonychia Congenita 51 12.292
8
KDS001 Kid Syndrome 44 12.292
9
c NNS007 Nonsyndromic Deafness 41 12.292
10
DFN038 Dfnb1 29 12.292
11
HDR007 Hidrotic Ectodermal Dysplasia 2 8 12.292
12
KRT001 Keratoconjunctivitis Sicca 52 10.036
13
ERY021 Erythrokeratodermia Variabilis Et Progressiva 47 10.036
14
c TYR013 Tyrosinemia, Type Ii 47 10.036
15
CNT007 Central Nervous System Tuberculosis 44 10.036
16
DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 43 10.036
17
INN002 Inner Ear Disease 38 10.036
18
BRT001 Bart-Pumphrey Syndrome 38 10.036
19
ADT003 Auditory System Disease 37 10.036
20
P ADT004 Auditory Neuropathy 35 10.036
21
CRN024 Corneal Disease 34 10.036
22
TST015 Testicular Disease 34 10.036
23
ORC001 Orchitis 32 10.036
24
INT003 Intracranial Hypotension 31 10.036
25
OBS004 Obstructive Hydrocephalus 30 10.036
26
INF001 Infarct of Liver 29 10.036
27
CNG069 Congenital Cytomegalovirus 28 10.036
28
HDG001 Hodgkin's Lymphoma, Nodular Sclerosis 28 10.036
29
BRN008 Brain Compression 25 10.036
30
SPH007 Sphenoid Sinusitis 25 10.036
31
PSD026 Pseudoainhum 23 10.036
32
CRD007 Cardiovascular Organ Benign Neoplasm 21 10.036
33
BNG033 Benign Perivascular Tumor 21 10.036
34
NNS014 Nonsyndromic Hearing Loss and Deafness 20 10.036
35
NNS009 Nonsyndromic Hearing Loss and Deafness, Dfnb1 17 10.036
36
GLM002 Glomangiomatosis 16 10.036
37
NNS008 Nonsyndromic Hearing Loss and Deafness, Dfna3 13 10.036
38
c DFN097 Deafness, Autosomal Recessive 1a 39 7.097
39
ATS251 Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna 26 7.097
40
ATS252 Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb 22 7.097
41
DFN042 Dfna 3 Nonsyndromic Hearing Loss and Deafness 17 7.097
42
GJB005 Gjb6-Related Dfna 3 Nonsyndromic Hearing Loss and Deafness 7 7.097
43
GJB006 Gjb6-Related Dfnb 1 Nonsyndromic Hearing Loss and Deafness 7 7.097
44
DFN063 Dfnb 1 Nonsyndromic Hearing Loss and Deafness 6 7.097