# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
c
|
HNF003 |
Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
41 |
17.974 |
|
2 |
|
|
RNL051 |
Renal Cysts and Diabetes Syndrome |
55 |
6.526 |
|
3 |
|
P
|
DBT026 |
Diabetes Mellitus, Noninsulin-Dependent |
90 |
3.926 |
|
4 |
|
P
|
DBT009 |
Diabetes Mellitus |
64 |
3.796 |
|
5 |
|
P
|
PRS040 |
Prostate Cancer |
97 |
3.522 |
|
6 |
|
|
RNL114 |
Renal Cell Carcinoma, Nonpapillary |
78 |
3.244 |
|
7 |
|
P
|
MTR004 |
Maturity-Onset Diabetes of the Young |
65 |
3.233 |
|
8 |
|
P
|
OVR042 |
Ovarian Cancer |
88 |
3.225 |
|
9 |
|
P
|
KDN018 |
Kidney Disease |
72 |
2.917 |
|
10 |
|
|
CHR177 |
Chromophobe Renal Cell Carcinoma |
57 |
2.917 |
|
11 |
|
P
|
CYS039 |
Cystic Kidney Disease |
54 |
2.917 |
|
12 |
|
|
CHL068 |
Cholestasis |
61 |
2.586 |
|
13 |
|
c
|
CHR684 |
Chronic Kidney Disease |
70 |
2.547 |
|
14 |
|
P
|
END044 |
Endometriosis |
63 |
2.448 |
|
15 |
|
P
|
NNT009 |
Neonatal Diabetes Mellitus |
50 |
2.448 |
|
16 |
|
|
MNG006 |
Monogenic Diabetes |
46 |
2.342 |
|
17 |
|
|
CKT002 |
Cakut |
48 |
2.152 |
|
18 |
|
|
CHR501 |
Chromosome 17q12 Deletion Syndrome |
36 |
2.133 |
|
19 |
|
c
|
HYP529 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
17 |
2.133 |
|
20 |
|
c
|
PRS117 |
Prostate Cancer, Hereditary, 11 |
24 |
2.088 |
|
21 |
|
|
RNL078 |
Renal Dysplasia |
50 |
2.063 |
|
22 |
|
|
DDN011 |
Duodenal Atresia |
50 |
2.033 |
|
23 |
|
|
BLR001 |
Biliary Atresia |
50 |
2.033 |
|
24 |
|
|
PLY012 |
Polyhydramnios |
46 |
2.033 |
|
25 |
|
c
|
PLY168 |
Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease |
66 |
1.999 |
|
26 |
|
c
|
ATS347 |
Autosomal Dominant Polycystic Kidney Disease |
65 |
1.999 |
|
27 |
|
P
|
PLY170 |
Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease |
64 |
1.999 |
|
28 |
|
P
|
PLY014 |
Polycystic Kidney Disease |
62 |
1.999 |
|
29 |
|
|
RNL024 |
Renal Glucosuria |
58 |
1.999 |
|
30 |
|
|
PRN038 |
Prune Belly Syndrome |
56 |
1.999 |
|
31 |
|
|
CLR003 |
Clear Cell Adenocarcinoma |
50 |
1.999 |
|
32 |
|
P
|
UTR058 |
Uterine Anomalies |
47 |
1.999 |
|
33 |
|
P
|
OVR106 |
Ovarian Clear Cell Carcinoma |
44 |
1.999 |
|
34 |
|
P
|
HYP758 |
Hyperuricemic Nephropathy, Familial Juvenile, 1 |
43 |
1.999 |
|
35 |
|
|
OVR034 |
Ovarian Clear Cell Adenocarcinoma |
38 |
1.999 |
|
36 |
|
|
HRS011 |
Horseshoe Kidney |
34 |
1.999 |
|
37 |
|
|
OLG021 |
Oligomeganephronia |
33 |
1.999 |
|
38 |
|
|
17Q009 |
17q12 Recurrent Deletion Syndrome |
18 |
1.681 |
|
39 |
|
c
|
RRD013 |
Rare Diabetes Mellitus Type 2 |
31 |
1.612 |
|
40 |
|
c
|
HYP210 |
Hypomagnesemia 2, Renal |
43 |
1.592 |
|
41 |
|
|
CHR502 |
Chromosome 17q12 Duplication Syndrome |
37 |
1.547 |
|
42 |
|
|
RNL025 |
Renal Hypoplasia |
42 |
1.522 |
|
43 |
|
P
|
ATS382 |
Autosomal Dominant Tubulointerstitial Kidney Disease |
30 |
1.493 |
|
44 |
|
|
BCR002 |
Bicornuate Uterus |
24 |
1.493 |
|
45 |
|
|
UNL014 |
Unilateral Multicystic Dysplastic Kidney |
18 |
1.493 |
|
46 |
|
P
|
RNL100 |
Renal Hypodysplasia/aplasia 1 |
63 |
1.458 |
|
47 |
|
c
|
MTR018 |
Maturity-Onset Diabetes of the Young, Type 1 |
62 |
1.458 |
|
48 |
|
|
PPL048 |
Papillorenal Syndrome |
58 |
1.458 |
|
49 |
|
c
|
MTR020 |
Maturity-Onset Diabetes of the Young, Type 3 |
55 |
1.458 |
|
50 |
|
|
OLG003 |
Oligohydramnios |
51 |
1.458 |
|
51 |
|
P
|
PNC045 |
Pancreatic Agenesis |
37 |
1.458 |
|
52 |
|
|
BLT020 |
Bilateral Multicystic Dysplastic Kidney |
15 |
1.458 |
|
53 |
|
P
|
ALG028 |
Alagille Syndrome 1 |
73 |
1.414 |
|
54 |
|
P
|
PLY169 |
Polycystic Liver Disease 1 with or Without Kidney Cysts |
60 |
1.414 |
|
55 |
|
P
|
NPH005 |
Nephronophthisis |
59 |
1.414 |
|
56 |
|
|
MYR002 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
58 |
1.414 |
|
57 |
|
c
|
PLY172 |
Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease |
57 |
1.414 |
|
58 |
|
|
PLY023 |
Polycystic Liver Disease |
57 |
1.414 |
|
59 |
|
P
|
TWN003 |
Townes-Brocks Syndrome |
55 |
1.414 |
|
60 |
|
c
|
MTR019 |
Maturity-Onset Diabetes of the Young, Type 2 |
55 |
1.414 |
|
61 |
|
|
BLP046 |
Blepharophimosis, Ptosis, and Epicanthus Inversus |
54 |
1.414 |
|
62 |
|
|
END002 |
Endometrioid Ovary Carcinoma |
53 |
1.414 |
|
63 |
|
|
OVR059 |
Ovary Adenocarcinoma |
53 |
1.414 |
|
64 |
|
P
|
BRN006 |
Branchiootorenal Syndrome |
46 |
1.414 |
|
65 |
|
c
|
MTR021 |
Maturity-Onset Diabetes of the Young, Type 4 |
44 |
1.414 |
|
66 |
|
c
|
MTR024 |
Maturity-Onset Diabetes of the Young, Type 7 |
41 |
1.414 |
|
67 |
|
|
MTR082 |
Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction |
41 |
1.414 |
|
68 |
|
c
|
MTR023 |
Maturity-Onset Diabetes of the Young, Type 6 |
40 |
1.414 |
|
69 |
|
|
END011 |
Endometriosis of Ovary |
39 |
1.414 |
|
70 |
|
|
KRK001 |
Krukenberg Carcinoma |
39 |
1.414 |
|
71 |
|
|
CRL004 |
Caroli Disease |
39 |
1.414 |
|
72 |
|
c
|
MTR026 |
Maturity-Onset Diabetes of the Young, Type 9 |
36 |
1.414 |
|
73 |
|
|
END032 |
Endometrial Clear Cell Adenocarcinoma |
35 |
1.414 |
|
74 |
|
|
OVR026 |
Ovary Transitional Cell Carcinoma |
32 |
1.414 |
|
75 |
|
|
FLL003 |
Fallopian Tube Endometrioid Adenocarcinoma |
32 |
1.414 |
|
76 |
|
|
RRG011 |
Rare Genetic Diabetes Mellitus |
23 |
0.217 |
|
77 |
|
|
END086 |
End Stage Renal Disease |
51 |
0.133 |
|
78 |
|
|
HYP014 |
Hyperuricemia |
52 |
0.121 |
|
79 |
|
|
END057 |
Endometrial Cancer |
74 |
0.108 |
|
80 |
|
P
|
ATS364 |
Autism |
70 |
0.094 |
|
81 |
|
|
GST033 |
Gestational Diabetes |
61 |
0.094 |
|
82 |
|
c
|
ATS007 |
Autism Spectrum Disorder |
67 |
0.077 |
|
83 |
|
|
HYD002 |
Hydronephrosis |
60 |
0.077 |
|
84 |
|
|
ADN018 |
Adenoma |
59 |
0.077 |
|
85 |
|
|
HYP005 |
Hypokalemia |
55 |
0.077 |
|
86 |
|
P
|
CNG499 |
Congenital Anomalies of Kidney and Urinary Tract 2 |
52 |
0.077 |
|
87 |
|
c
|
MYP106 |
Myopathy, Myosin Storage, Autosomal Recessive |
33 |
0.077 |
|
88 |
|
|
MYL069 |
Myeloma, Multiple |
85 |
0.054 |
|
89 |
|
|
NRL016 |
Neural Tube Defects |
82 |
0.054 |
|
90 |
|
P
|
SCH015 |
Schizophrenia |
74 |
0.054 |
|
91 |
|
|
SVR004 |
Severe Combined Immunodeficiency |
73 |
0.054 |
|
92 |
|
c
|
THR092 |
Thrombophilia Due to Thrombin Defect |
73 |
0.054 |
|
93 |
|
P
|
LVR013 |
Liver Disease |
68 |
0.054 |
|
94 |
|
|
RCK004 |
Rickets |
68 |
0.054 |
|
95 |
|
c
|
PRM196 |
Premature Ovarian Failure 1 |
67 |
0.054 |
|
96 |
|
P
|
MCR115 |
Microvascular Complications of Diabetes 5 |
66 |
0.054 |
|
97 |
|
|
GTL001 |
Gitelman Syndrome |
65 |
0.054 |
|
98 |
|
c
|
DBT099 |
Diabetes Mellitus, Type I |
65 |
0.054 |
|
99 |
|
|
ALC028 |
Alacrima, Achalasia, and Mental Retardation Syndrome |
64 |
0.054 |
|
100 |
|
|
CLR108 |
Colorectal Adenoma |
64 |
0.054 |
|
101 |
|
P
|
ADN016 |
Adenocarcinoma |
64 |
0.054 |
|
102 |
|
P
|
HYP069 |
Hyperparathyroidism |
63 |
0.054 |
|
103 |
|
|
HYP066 |
Hyperglycemia |
61 |
0.054 |
|
104 |
|
|
FTT001 |
Fatty Liver Disease |
61 |
0.054 |
|
105 |
|
P
|
PNC044 |
Pancreatitis |
61 |
0.054 |
|
106 |
|
P
|
CTR002 |
Cataract |
60 |
0.054 |
|
107 |
|
|
THR024 |
Thrombosis |
57 |
0.054 |
|
108 |
|
|
BLR008 |
Bilirubin Metabolic Disorder |
57 |
0.054 |
|
109 |
|
|
ISL001 |
Islet Cell Tumor |
56 |
0.054 |
|
110 |
|
|
NRN004 |
Neuroendocrine Tumor |
55 |
0.054 |
|
111 |
|
|
GLC003 |
Glucose Intolerance |
54 |
0.054 |
|
112 |
|
c
|
MCR113 |
Microvascular Complications of Diabetes 3 |
52 |
0.054 |
|
113 |
|
P
|
FNC004 |
Fanconi Syndrome |
50 |
0.054 |
|
114 |
|
|
VTR016 |
Vater/vacterl Association |
50 |
0.054 |
|
115 |
|
|
PCT003 |
Pectus Excavatum |
49 |
0.054 |
|
116 |
|
|
47X002 |
47,xyy |
49 |
0.054 |
|
117 |
|
|
BKR002 |
Baker-Gordon Syndrome |
49 |
0.054 |
|
118 |
|
|
SPL018 |
Splenomegaly |
48 |
0.054 |
|
119 |
|
c
|
MCR120 |
Microvascular Complications of Diabetes 7 |
47 |
0.054 |
|
120 |
|
P
|
LPM005 |
Lipomatosis |
46 |
0.054 |
|
121 |
|
c
|
DBT103 |
Diabetes Mellitus, Permanent Neonatal 4 |
46 |
0.054 |
|
122 |
|
|
CLP005 |
Ciliopathy |
43 |
0.054 |
|
123 |
|
|
PRM237 |
Primary Hypomagnesemia |
43 |
0.054 |
|
124 |
|
|
EXC002 |
Exocrine Pancreatic Insufficiency |
42 |
0.054 |
|
125 |
|
|
MLT084 |
Multicystic Dysplastic Kidney |
42 |
0.054 |
|
126 |
|
c
|
PST041 |
Posterior Urethral Valves |
41 |
0.054 |
|
127 |
|
c
|
MCR130 |
Microvascular Complications of Diabetes 6 |
41 |
0.054 |
|
128 |
|
c
|
MCR133 |
Microvascular Complications of Diabetes 4 |
41 |
0.054 |
|
129 |
|
|
ISL151 |
Isolated Elevated Serum Creatine Phosphokinase Levels |
40 |
0.054 |
|
130 |
|
P
|
FNC034 |
Fanconi Renotubular Syndrome 2 |
40 |
0.054 |
|
131 |
|
|
SPN221 |
Spina Bifida Occulta |
39 |
0.054 |
|
132 |
|
c
|
FNC026 |
Fanconi Renotubular Syndrome 1 |
39 |
0.054 |
|
133 |
|
|
CRT045 |
Creatine Phosphokinase, Elevated Serum |
39 |
0.054 |
|
134 |
|
|
OVR094 |
Ovarian Epithelial Cancer |
38 |
0.054 |
|
135 |
|
|
PCT001 |
Pectus Carinatum |
35 |
0.054 |
|
136 |
|
|
CHR210 |
Chromosome 17q Duplication |
12 |
0.054 |
|