# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
c
|
PLY168 |
Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease |
66 |
22.542 |
|
2 |
|
P
|
KDN018 |
Kidney Disease |
72 |
6.122 |
|
3 |
|
P
|
PLY014 |
Polycystic Kidney Disease |
62 |
5.982 |
|
4 |
|
c
|
ATS347 |
Autosomal Dominant Polycystic Kidney Disease |
65 |
5.472 |
|
5 |
|
|
PLY023 |
Polycystic Liver Disease |
57 |
3.706 |
|
6 |
|
P
|
LVR013 |
Liver Disease |
68 |
3.660 |
|
7 |
|
P
|
CYS039 |
Cystic Kidney Disease |
54 |
3.648 |
|
8 |
|
P
|
PLY170 |
Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease |
64 |
3.534 |
|
9 |
|
P
|
TBR001 |
Tuberous Sclerosis |
70 |
3.487 |
|
10 |
|
c
|
CHR684 |
Chronic Kidney Disease |
70 |
3.048 |
|
11 |
|
c
|
HYP595 |
Hypertension, Essential |
84 |
3.032 |
|
12 |
|
|
INT030 |
Intracranial Aneurysm |
56 |
2.892 |
|
13 |
|
|
CRL004 |
Caroli Disease |
39 |
2.865 |
|
14 |
|
|
MRF001 |
Marfan Syndrome |
77 |
2.835 |
|
15 |
|
P
|
PLY169 |
Polycystic Liver Disease 1 with or Without Kidney Cysts |
60 |
2.734 |
|
16 |
|
|
END086 |
End Stage Renal Disease |
51 |
2.700 |
|
17 |
|
c
|
PLY171 |
Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease |
42 |
2.595 |
|
18 |
|
c
|
PLY172 |
Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease |
57 |
2.432 |
|
19 |
|
|
RNL094 |
Renal Dysplasia, Cystic |
42 |
2.408 |
|
20 |
|
P
|
NPH005 |
Nephronophthisis |
59 |
2.351 |
|
21 |
|
c
|
NPH019 |
Nephronophthisis 1 |
50 |
2.351 |
|
22 |
|
|
VNH007 |
Von Hippel-Lindau Syndrome |
73 |
2.315 |
|
23 |
|
P
|
JBR020 |
Joubert Syndrome 1 |
72 |
2.315 |
|
24 |
|
P
|
ALP004 |
Alport Syndrome |
68 |
2.315 |
|
25 |
|
P
|
BRD002 |
Bardet-Biedl Syndrome |
66 |
2.315 |
|
26 |
|
|
RNL078 |
Renal Dysplasia |
50 |
2.315 |
|
27 |
|
|
STT007 |
Steatocystoma Multiplex |
46 |
2.315 |
|
28 |
|
|
DYS018 |
Dysostosis |
44 |
2.315 |
|
29 |
|
|
MLT084 |
Multicystic Dysplastic Kidney |
42 |
1.802 |
|
|
31 |
|
|
PLY116 |
Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis |
22 |
1.777 |
|
32 |
|
P
|
RNV001 |
Renovascular Hypertension |
48 |
1.720 |
|
33 |
|
P
|
ORT004 |
Orthostatic Intolerance |
62 |
1.684 |
|
34 |
|
P
|
CNT116 |
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a |
54 |
1.684 |
|
35 |
|
P
|
CNG048 |
Congenital Hepatic Fibrosis |
38 |
1.684 |
|
36 |
|
P
|
RTN008 |
Retinitis Pigmentosa |
79 |
1.637 |
|
37 |
|
P
|
PRM011 |
Primary Ciliary Dyskinesia |
69 |
1.637 |
|
38 |
|
P
|
MCK013 |
Meckel Syndrome, Type 1 |
65 |
1.637 |
|
39 |
|
P
|
VSC013 |
Visceral Heterotaxy |
52 |
1.637 |
|
40 |
|
c
|
NPH030 |
Nephronophthisis 2 |
50 |
1.637 |
|
41 |
|
|
KRT010 |
Kartagener Syndrome |
50 |
1.637 |
|
42 |
|
P
|
INT260 |
Intracranial Berry Aneurysm |
39 |
1.637 |
|
43 |
|
c
|
DFN108 |
Deafness, Autosomal Recessive 77 |
36 |
1.637 |
|
44 |
|
|
CRB031 |
Cerebral Arterial Disease |
33 |
1.637 |
|
45 |
|
|
ACR017 |
Acrofacial Dysostosis |
31 |
1.637 |
|
46 |
|
c
|
ATS009 |
Autosomal Genetic Disease |
25 |
1.637 |
|
47 |
|
c
|
TBR026 |
Tuberous Sclerosis 2 |
72 |
0.127 |
|
48 |
|
P
|
ART062 |
Arthrogryposis, Renal Dysfunction, and Cholestasis 1 |
65 |
0.114 |
|
49 |
|
|
CLB019 |
Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly |
43 |
0.114 |
|
50 |
|
c
|
TBR025 |
Tuberous Sclerosis 1 |
77 |
0.099 |
|
51 |
|
|
PLY012 |
Polyhydramnios |
46 |
0.099 |
|
52 |
|
|
CRB086 |
Cerebral Aneurysms |
40 |
0.099 |
|
53 |
|
|
THY020 |
Thyroid Hyalinizing Trabecular Adenoma |
21 |
0.099 |
|
54 |
|
|
GST040 |
Gastric Adenocarcinoma |
70 |
0.081 |
|
55 |
|
|
CRB039 |
Cerebrovascular Disease |
67 |
0.081 |
|
56 |
|
|
HYD038 |
Hydrops Fetalis, Nonimmune |
62 |
0.081 |
|
57 |
|
|
BRS099 |
Breast Ductal Carcinoma |
62 |
0.081 |
|
58 |
|
P
|
HMN010 |
Hemangioma |
61 |
0.081 |
|
59 |
|
|
PTN001 |
Patent Foramen Ovale |
60 |
0.081 |
|
60 |
|
|
VSL002 |
Visual Epilepsy |
59 |
0.081 |
|
61 |
|
|
ANR040 |
Aneurysm |
59 |
0.081 |
|
62 |
|
P
|
INF032 |
Infertility |
57 |
0.081 |
|
63 |
|
P
|
MLN007 |
Male Infertility |
55 |
0.081 |
|
64 |
|
|
NPH009 |
Nephrolithiasis |
55 |
0.081 |
|
65 |
|
P
|
NLD001 |
Nail Disease |
54 |
0.081 |
|
66 |
|
|
RNL077 |
Renal Fibrosis |
47 |
0.081 |
|
67 |
|
|
ANG018 |
Angiomyolipoma |
46 |
0.081 |
|
68 |
|
|
CLP005 |
Ciliopathy |
43 |
0.081 |
|
69 |
|
|
ISL151 |
Isolated Elevated Serum Creatine Phosphokinase Levels |
40 |
0.081 |
|
70 |
|
|
CRT045 |
Creatine Phosphokinase, Elevated Serum |
39 |
0.081 |
|
71 |
|
P
|
LNG032 |
Lung Cancer |
98 |
0.057 |
|
72 |
|
P
|
BRS047 |
Breast Cancer |
97 |
0.057 |
|
73 |
|
P
|
PNC035 |
Pancreatic Cancer |
84 |
0.057 |
|
74 |
|
P
|
ATX030 |
Ataxia-Telangiectasia |
82 |
0.057 |
|
75 |
|
P
|
PRT133 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
81 |
0.057 |
|
76 |
|
|
END057 |
Endometrial Cancer |
74 |
0.057 |
|
77 |
|
P
|
HNT016 |
Huntington Disease |
72 |
0.057 |
|
78 |
|
|
ACR007 |
Acromegaly |
71 |
0.057 |
|
79 |
|
P
|
CRB048 |
Cerebral Cavernous Malformations |
67 |
0.057 |
|
80 |
|
|
OST159 |
Osteogenic Sarcoma |
66 |
0.057 |
|
81 |
|
P
|
HYD006 |
Hydrocephalus |
66 |
0.057 |
|
82 |
|
c
|
SML038 |
Small Cell Cancer of the Lung |
65 |
0.057 |
|
83 |
|
P
|
PSD087 |
Pseudoxanthoma Elasticum |
65 |
0.057 |
|
84 |
|
|
ALC028 |
Alacrima, Achalasia, and Mental Retardation Syndrome |
64 |
0.057 |
|
85 |
|
P
|
NRN021 |
Neuronal Ceroid Lipofuscinosis |
64 |
0.057 |
|
86 |
|
P
|
VSC007 |
Vascular Disease |
63 |
0.057 |
|
87 |
|
P
|
DST002 |
Distal Arthrogryposis |
63 |
0.057 |
|
88 |
|
P
|
EPL140 |
Epilepsy, Idiopathic Generalized |
62 |
0.057 |
|
89 |
|
c
|
ART144 |
Arthrogryposis, Distal, Type 1a |
61 |
0.057 |
|
90 |
|
|
NRL005 |
Neurilemmoma |
60 |
0.057 |
|
91 |
|
P
|
TST021 |
Testicular Germ Cell Tumor |
60 |
0.057 |
|
92 |
|
|
CNG410 |
Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly |
60 |
0.057 |
|
93 |
|
|
CHL014 |
Cholera |
59 |
0.057 |
|
94 |
|
|
ADN018 |
Adenoma |
59 |
0.057 |
|
95 |
|
|
ISC004 |
Ischemia |
58 |
0.057 |
|
96 |
|
P
|
BCL017 |
B-Cell Lymphoma |
58 |
0.057 |
|
97 |
|
P
|
PTT006 |
Pituitary Adenoma |
55 |
0.057 |
|
98 |
|
|
TLN003 |
Telangiectasis |
52 |
0.057 |
|
99 |
|
|
OLG003 |
Oligohydramnios |
51 |
0.057 |
|
100 |
|
|
ALK024 |
Alkuraya-Kucinskas Syndrome |
51 |
0.057 |
|
101 |
|
|
AZS001 |
Azoospermia |
50 |
0.057 |
|
102 |
|
|
HMM003 |
Hemimegalencephaly |
48 |
0.057 |
|
103 |
|
c
|
CRB191 |
Cerebral Cavernous Malformations 2 |
47 |
0.057 |
|
104 |
|
|
TST014 |
Testicular Cancer |
46 |
0.057 |
|
105 |
|
|
CRB004 |
Cerebral Artery Occlusion |
45 |
0.057 |
|
106 |
|
|
ATX038 |
Ataxia and Polyneuropathy, Adult-Onset |
45 |
0.057 |
|
107 |
|
P
|
HYP761 |
Hypouricemia, Renal, 1 |
44 |
0.057 |
|
108 |
|
P
|
TST026 |
Testicular Germ Cell Cancer |
43 |
0.057 |
|
109 |
|
c
|
CRB094 |
Cerebral Cavernous Malformations 3 |
42 |
0.057 |
|
110 |
|
|
48X005 |
48,xyyy |
39 |
0.057 |
|
111 |
|
|
GRM010 |
Germ Cells Tumors |
34 |
0.057 |
|
112 |
|
|
TRD008 |
Triiodothyronine Receptor Auxiliary Protein |
34 |
0.057 |
|
113 |
|
|
TQP001 |
Taqi Polymorphism |
32 |
0.057 |
|
114 |
|
c
|
HYP708 |
Hyperaldosteronism, Familial, Type Iv |
30 |
0.057 |
|
115 |
|
|
CVR010 |
Cavernous Malformation |
30 |
0.057 |
|
116 |
|
|
CHR524 |
Chromosome 16p13.3 Duplication Syndrome |
29 |
0.057 |
|
117 |
|
|
PST092 |
Posttransplant Acute Limbic Encephalitis |
29 |
0.057 |
|
118 |
|
|
CNG506 |
Congenital Amyoplasia |
27 |
0.057 |
|
119 |
|
|
ARG004 |
Argyria |
27 |
0.057 |
|
120 |
|
|
HTT002 |
Hutterite Cerebroosteonephrodysplasia Syndrome |
26 |
0.057 |
|
121 |
|
c
|
PLY141 |
Polycystic Kidney Disease 5 |
24 |
0.057 |
|
122 |
|
c
|
PLY177 |
Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease |
22 |
0.057 |
|