# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
c
|
MCK014 |
Meckel Syndrome, Type 5 |
46 |
5.940 |
|
2 |
|
c
|
JBR011 |
Joubert Syndrome 7 |
46 |
5.789 |
|
3 |
|
P
|
JBR020 |
Joubert Syndrome 1 |
72 |
4.969 |
|
4 |
|
P
|
MCK013 |
Meckel Syndrome, Type 1 |
65 |
4.929 |
|
5 |
|
|
CCH002 |
Coach Syndrome |
55 |
4.884 |
|
6 |
|
P
|
NPH005 |
Nephronophthisis |
59 |
2.944 |
|
7 |
|
P
|
RTN008 |
Retinitis Pigmentosa |
79 |
2.809 |
|
8 |
|
P
|
RTN016 |
Retinal Degeneration |
53 |
2.686 |
|
9 |
|
|
CLP005 |
Ciliopathy |
43 |
2.370 |
|
10 |
|
c
|
JBR018 |
Joubert Syndrome 4 |
51 |
2.247 |
|
11 |
|
P
|
BRD002 |
Bardet-Biedl Syndrome |
66 |
2.161 |
|
12 |
|
c
|
MNN043 |
Meningioma, Familial |
74 |
2.122 |
|
13 |
|
|
APR001 |
Apraxia |
52 |
2.122 |
|
14 |
|
|
ASP005 |
Asphyxiating Thoracic Dystrophy |
43 |
2.122 |
|
15 |
|
P
|
CRB045 |
Cerebellar Hypoplasia |
41 |
2.122 |
|
16 |
|
|
FND002 |
Fundus Dystrophy |
55 |
1.742 |
|
17 |
|
|
LBR036 |
Leber Plus Disease |
66 |
1.589 |
|
18 |
|
c
|
MCK032 |
Meckel Syndrome, Type 3 |
50 |
1.589 |
|
19 |
|
P
|
SNR003 |
Senior-Loken Syndrome 1 |
56 |
1.551 |
|
20 |
|
|
CLB010 |
Coloboma of Macula |
52 |
1.551 |
|
21 |
|
c
|
JBR015 |
Joubert Syndrome 6 |
45 |
1.551 |
|
22 |
|
c
|
JBR026 |
Joubert Syndrome 15 |
40 |
1.551 |
|
23 |
|
P
|
CNG048 |
Congenital Hepatic Fibrosis |
38 |
1.551 |
|
24 |
|
|
ACR008 |
Acrocallosal Syndrome |
69 |
1.501 |
|
25 |
|
P
|
PRM011 |
Primary Ciliary Dyskinesia |
69 |
1.501 |
|
26 |
|
P
|
PLY170 |
Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease |
64 |
1.501 |
|
27 |
|
|
ALS001 |
Alstrom Syndrome |
64 |
1.501 |
|
28 |
|
|
ELL001 |
Ellis-Van Creveld Syndrome |
62 |
1.501 |
|
29 |
|
P
|
CRN108 |
Cranioectodermal Dysplasia 1 |
62 |
1.501 |
|
30 |
|
P
|
SHR074 |
Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly |
60 |
1.501 |
|
31 |
|
c
|
ORF034 |
Orofaciodigital Syndrome Vi |
55 |
1.501 |
|
32 |
|
P
|
CYS039 |
Cystic Kidney Disease |
54 |
1.501 |
|
33 |
|
c
|
JBR041 |
Joubert Syndrome 3 |
53 |
1.501 |
|
34 |
|
|
JHN001 |
Johanson-Blizzard Syndrome |
52 |
1.501 |
|
35 |
|
P
|
VSC013 |
Visceral Heterotaxy |
52 |
1.501 |
|
36 |
|
c
|
NPH030 |
Nephronophthisis 2 |
50 |
1.501 |
|
37 |
|
|
KRT010 |
Kartagener Syndrome |
50 |
1.501 |
|
38 |
|
c
|
BRD018 |
Bardet-Biedl Syndrome 6 |
49 |
1.501 |
|
39 |
|
c
|
JBR004 |
Joubert Syndrome 2 |
48 |
1.501 |
|
40 |
|
c
|
JBR012 |
Joubert Syndrome 5 |
47 |
1.501 |
|
41 |
|
c
|
MCK033 |
Meckel Syndrome, Type 4 |
47 |
1.501 |
|
42 |
|
c
|
BRD032 |
Bardet-Biedl Syndrome 14 |
47 |
1.501 |
|
43 |
|
c
|
MCK031 |
Meckel Syndrome, Type 2 |
47 |
1.501 |
|
44 |
|
c
|
JBR035 |
Joubert Syndrome 24 |
46 |
1.501 |
|
45 |
|
c
|
MCK012 |
Meckel Syndrome, Type 6 |
46 |
1.501 |
|
46 |
|
c
|
NPH071 |
Nephronophthisis 14 |
45 |
1.501 |
|
47 |
|
c
|
NPH053 |
Nephronophthisis 11 |
44 |
1.501 |
|
48 |
|
c
|
NPH068 |
Nephronophthisis 16 |
44 |
1.501 |
|
49 |
|
c
|
NPH035 |
Nephronophthisis 9 |
44 |
1.501 |
|
50 |
|
c
|
JBR014 |
Joubert Syndrome 9 |
43 |
1.501 |
|
51 |
|
c
|
JBR013 |
Joubert Syndrome 8 |
42 |
1.501 |
|
52 |
|
c
|
JBR028 |
Joubert Syndrome 13 |
42 |
1.501 |
|
53 |
|
c
|
MCK034 |
Meckel Syndrome, Type 8 |
41 |
1.501 |
|
54 |
|
c
|
JBR016 |
Joubert Syndrome 10 |
41 |
1.501 |
|
55 |
|
c
|
NPH033 |
Nephronophthisis 7 |
41 |
1.501 |
|
56 |
|
|
GND002 |
Gender Identity Disorder |
40 |
1.501 |
|
57 |
|
|
TRN007 |
Transsexualism |
39 |
1.501 |
|
58 |
|
c
|
NPH077 |
Nephronophthisis 19 |
38 |
1.501 |
|
59 |
|
c
|
CNR024 |
Cone-Rod Dystrophy 13 |
36 |
1.501 |
|
60 |
|
|
FTS001 |
Fetishism |
25 |
1.501 |
|
61 |
|
|
TRN006 |
Transvestism |
24 |
1.501 |
|
62 |
|
|
RTN023 |
Retinitis |
46 |
0.181 |
|
63 |
|
|
NRR001 |
Neuroretinitis |
42 |
0.181 |
|
64 |
|
c
|
INH030 |
Inherited Retinal Disorder |
51 |
0.171 |
|
65 |
|
c
|
NPH032 |
Nephronophthisis 4 |
47 |
0.105 |
|
66 |
|
|
ATS010 |
Autosomal Recessive Disease |
48 |
0.085 |
|
67 |
|
P
|
HPT023 |
Hepatocellular Carcinoma |
100 |
0.060 |
|
68 |
|
P
|
BDY004 |
Body Mass Index Quantitative Trait Locus 11 |
76 |
0.060 |
|
69 |
|
P
|
LVR013 |
Liver Disease |
68 |
0.060 |
|
70 |
|
P
|
DMN002 |
Dementia |
66 |
0.060 |
|
71 |
|
c
|
BRD010 |
Bardet-Biedl Syndrome 1 |
62 |
0.060 |
|
72 |
|
P
|
VTL004 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
60 |
0.060 |
|
73 |
|
|
PMP006 |
Pemphigus Vulgaris, Familial |
57 |
0.060 |
|
74 |
|
|
VSC002 |
Vascular Dementia |
57 |
0.060 |
|
75 |
|
P
|
BPL003 |
Bipolar Disorder |
56 |
0.060 |
|
76 |
|
P
|
PMP001 |
Pemphigus |
54 |
0.060 |
|
77 |
|
c
|
BDY021 |
Body Mass Index Quantitative Trait Locus 20 |
52 |
0.060 |
|
78 |
|
c
|
LBR004 |
Leber Congenital Amaurosis 1 |
52 |
0.060 |
|
79 |
|
c
|
BDY020 |
Body Mass Index Quantitative Trait Locus 19 |
52 |
0.060 |
|
80 |
|
|
END086 |
End Stage Renal Disease |
51 |
0.060 |
|
81 |
|
c
|
NPH019 |
Nephronophthisis 1 |
50 |
0.060 |
|
82 |
|
c
|
BDY005 |
Body Mass Index Quantitative Trait Locus 9 |
48 |
0.060 |
|
83 |
|
c
|
BDY019 |
Body Mass Index Quantitative Trait Locus 18 |
47 |
0.060 |
|
84 |
|
c
|
BDY010 |
Body Mass Index Quantitative Trait Locus 4 |
46 |
0.060 |
|
85 |
|
c
|
BDY015 |
Body Mass Index Quantitative Trait Locus 12 |
46 |
0.060 |
|
86 |
|
c
|
BDY017 |
Body Mass Index Quantitative Trait Locus 14 |
45 |
0.060 |
|
87 |
|
c
|
BDY011 |
Body Mass Index Quantitative Trait Locus 10 |
45 |
0.060 |
|
88 |
|
|
ATX038 |
Ataxia and Polyneuropathy, Adult-Onset |
45 |
0.060 |
|
89 |
|
c
|
BDY006 |
Body Mass Index Quantitative Trait Locus 8 |
44 |
0.060 |
|
90 |
|
c
|
BDY012 |
Body Mass Index Quantitative Trait Locus 7 |
44 |
0.060 |
|
91 |
|
P
|
HYP265 |
Hypotonia |
43 |
0.060 |
|
92 |
|
c
|
VTL009 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
42 |
0.060 |
|
93 |
|
c
|
MJR024 |
Major Affective Disorder 9 |
41 |
0.060 |
|
94 |
|
c
|
MJR022 |
Major Affective Disorder 8 |
38 |
0.060 |
|
95 |
|
|
GRW039 |
Growth Retardation, Developmental Delay, and Facial Dysmorphism |
28 |
0.060 |
|