# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
CLS005 |
Clouston Syndrome |
58 |
5.989 |
|
2 |
|
c
|
DFN102 |
Deafness, Autosomal Dominant 3b |
35 |
4.730 |
|
3 |
|
c
|
DFN103 |
Deafness, Autosomal Recessive 1b |
40 |
4.403 |
|
4 |
|
c
|
DFN097 |
Deafness, Autosomal Recessive 1a |
47 |
4.114 |
|
5 |
|
P
|
ECT006 |
Ectodermal Dysplasia |
62 |
4.093 |
|
6 |
|
P
|
SNS001 |
Sensorineural Hearing Loss |
60 |
3.875 |
|
7 |
|
c
|
DFN036 |
Deafness, X-Linked 2 |
44 |
3.328 |
|
8 |
|
|
SKN016 |
Skin Disease |
63 |
2.748 |
|
9 |
|
P
|
NNS072 |
Nonsyndromic Hearing Loss |
41 |
2.667 |
|
10 |
|
|
DFN038 |
Dfnb1 |
28 |
2.621 |
|
11 |
|
|
DFN245 |
Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct |
51 |
2.353 |
|
12 |
|
|
KRT019 |
Keratitis, Hereditary |
65 |
2.322 |
|
13 |
|
P
|
USH001 |
Usher Syndrome |
60 |
2.286 |
|
14 |
|
P
|
ICH004 |
Ichthyosis |
54 |
2.286 |
|
15 |
|
P
|
VHW001 |
Vohwinkel Syndrome |
51 |
2.286 |
|
16 |
|
P
|
RTN008 |
Retinitis Pigmentosa |
79 |
2.243 |
|
17 |
|
c
|
USH036 |
Usher Syndrome, Type I |
60 |
2.243 |
|
18 |
|
|
HDR007 |
Hidrotic Ectodermal Dysplasia 2 |
16 |
1.934 |
|
19 |
|
|
PLM029 |
Palmoplantar Keratosis |
47 |
1.780 |
|
20 |
|
|
ATS252 |
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb |
32 |
1.751 |
|
21 |
|
|
ATS251 |
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna |
31 |
1.684 |
|
22 |
|
|
PSD026 |
Pseudoainhum |
27 |
1.684 |
|
23 |
|
|
NNS008 |
Nonsyndromic Hearing Loss and Deafness, Dfna3 |
18 |
1.684 |
|
24 |
|
c
|
PCH015 |
Pachyonychia Congenita 1 |
59 |
1.642 |
|
25 |
|
P
|
KRT028 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
53 |
1.642 |
|
26 |
|
|
CNG069 |
Congenital Cytomegalovirus |
49 |
1.642 |
|
27 |
|
|
KNC002 |
Knuckle Pads |
33 |
1.642 |
|
28 |
|
|
NNS009 |
Nonsyndromic Hearing Loss and Deafness, Dfnb1 |
21 |
1.642 |
|
29 |
|
P
|
OCL013 |
Oculodentodigital Dysplasia |
69 |
1.586 |
|
30 |
|
P
|
ECT062 |
Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive |
68 |
1.586 |
|
31 |
|
|
PND002 |
Pendred Syndrome |
65 |
1.586 |
|
32 |
|
P
|
CHR071 |
Charcot-Marie-Tooth Disease |
65 |
1.586 |
|
33 |
|
|
ECT070 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
60 |
1.586 |
|
34 |
|
P
|
ERY053 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
57 |
1.586 |
|
35 |
|
|
ADT003 |
Auditory System Disease |
48 |
1.586 |
|
36 |
|
P
|
INN002 |
Inner Ear Disease |
47 |
1.586 |
|
37 |
|
|
ORC001 |
Orchitis |
46 |
1.586 |
|
38 |
|
|
BRT001 |
Bart-Pumphrey Syndrome |
45 |
1.586 |
|
39 |
|
|
KRT058 |
Keratoderma, Palmoplantar, with Deafness |
42 |
1.586 |
|
40 |
|
|
VST004 |
Vestibular Disease |
41 |
1.586 |
|
41 |
|
c
|
DFN098 |
Deafness, Autosomal Dominant 3a |
40 |
1.586 |
|
42 |
|
|
BLC015 |
Balo Concentric Sclerosis |
38 |
1.586 |
|
43 |
|
c
|
VRL004 |
Viral Labyrinthitis |
35 |
1.586 |
|
44 |
|
|
BLP006 |
Blepharoconjunctivitis |
31 |
1.586 |
|
45 |
|
c
|
XLN004 |
X-Linked Nonsyndromic Deafness |
28 |
1.586 |
|
46 |
|
|
HYP855 |
Hyperpigmentation of the Skin |
27 |
1.586 |
|
47 |
|
|
XLN228 |
X-Linked Recessive Disease |
26 |
1.586 |
|
48 |
|
c
|
ATS005 |
Autosomal Dominant Nonsyndromic Deafness |
26 |
1.586 |
|
49 |
|
|
PRL001 |
Purulent Labyrinthitis |
25 |
1.586 |
|
50 |
|
c
|
XLN230 |
X-Linked Monogenic Disease |
18 |
1.586 |
|
51 |
|
|
ATX031 |
Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus |
58 |
0.453 |
|
52 |
|
c
|
BRN108 |
Branchiootic Syndrome 1 |
62 |
0.384 |
|
53 |
|
c
|
NNS007 |
Nonsyndromic Deafness |
35 |
0.177 |
|
54 |
|
P
|
ALP008 |
Alopecia |
54 |
0.116 |
|
55 |
|
|
KRT009 |
Keratosis |
51 |
0.094 |
|
56 |
|
|
ERM002 |
Ear Malformation |
39 |
0.094 |
|
57 |
|
c
|
CHR020 |
Chronic Interstitial Cystitis |
37 |
0.094 |
|
58 |
|
P
|
LNG032 |
Lung Cancer |
98 |
0.067 |
|
59 |
|
|
NRL016 |
Neural Tube Defects |
82 |
0.067 |
|
60 |
|
c
|
ATS013 |
Autosomal Recessive Congenital Ichthyosis |
63 |
0.067 |
|
61 |
|
P
|
PSR002 |
Psoriasis |
62 |
0.067 |
|
62 |
|
P
|
WRD001 |
Waardenburg's Syndrome |
59 |
0.067 |
|
63 |
|
|
CYT008 |
Cytomegalovirus Infection |
57 |
0.067 |
|
64 |
|
|
RTN187 |
Retinitis Pigmentosa-Deafness Syndrome |
42 |
0.067 |
|
65 |
|
P
|
HYP087 |
Hypotrichosis |
42 |
0.067 |
|
66 |
|
c
|
ATS006 |
Autosomal Recessive Nonsyndromic Deafness |
27 |
0.067 |
|
67 |
|
P
|
DFN027 |
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 |
14 |
0.067 |
|