| # |
|
Fam |
MCID |
Name |
MIFTS |
Score |
| 1 |
|
P |
GLM015 |
Glomerulopathy with Fibronectin Deposits 2 |
16 |
5.119 |
 |
| 2 |
|
|
LPP002 |
Lipoprotein Glomerulopathy |
37 |
4.420 |
|
|
| 3 |
|
c |
GLM014 |
Glomerulopathy with Fibronectin Deposits 1 |
6 |
3.678 |
|
|
| 4 |
|
|
IMM053 |
Immunotactoid Glomerulopathy |
4 |
2.922 |
|
|
| 5 |
|
|
IMM051 |
Immunotactoid or Fibrillary Glomerulopathy |
2 |
2.892 |
|
|
| 6 |
|
|
CLL035 |
Collagen Type Iii Glomerulopathy |
1 |
2.892 |
|
|
| 7 |
|
|
NNM004 |
Nonamyloid Fibrillary Glomerulopathy |
1 |
2.892 |
|
|
| 8 |
|
c |
SPR078 |
Sporadic Idiopathic Steroid-resistant Nephrotic Syndrome with Collapsing Glomerulopathy |
1 |
2.892 |
|
|
| 9 |
|
|
NNT040 |
Neonatal Membranous Glomerulopathy with Maternal Nep Deficiency |
0 |
2.892 |
|
|
| 10 |
|
|
LPD004 |
Lipoid Nephrosis |
39 |
2.114 |
|
|
| 11 |
|
|
OCL043 |
Oculorenocerebellar Syndrome |
12 |
2.084 |
|
|
| 12 |
|
P |
MMB006 |
Membranoproliferative Glomerulonephritis with Cfh Deficiency |
22 |
2.045 |
|
|
| 13 |
|
|
STR044 |
Steroid-resistant Nephrotic Syndrome |
38 |
0.264 |
|
|
| 14 |
|
|
MCR050 |
Microcephaly Glomerulonephritis Marfanoid Habitus |
19 |
0.228 |
|
|
| 15 |
|
|
SBL004 |
Sea-blue Histiocytosis |
27 |
0.164 |
|
|
| 16 |
|
P |
NPH047 |
Nephrotic Syndrome, Type 4 |
24 |
0.164 |
|
|
| 17 |
|
|
FML026 |
Familial Lipoprotein Lipase Deficiency |
49 |
0.150 |
|
|
| 18 |
|
|
NPH026 |
Nephrotic Syndrome, Idiopathic, Steroid-resistant |
17 |
0.150 |
|
|
| 19 |
|
c |
SPR077 |
Sporadic Idiopathic Steroid-resistant Nephrotic Syndrome |
5 |
0.150 |
|
|
| 20 |
|
c |
NPH012 |
Nephrotic Syndrome |
61 |
0.142 |
|
|
| 21 |
|
|
PRT069 |
Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis |
13 |
0.142 |
|
|
| 22 |
|
|
LYS009 |
Lysteria Monocytoigeneses Meningitis |
10 |
0.142 |
|
|
| 23 |
|
|
MNN032 |
Meningococcal Meningitis |
25 |
0.134 |
|
|
| 24 |
|
|
HRD074 |
Hereditary Nephrotic Syndromes |
24 |
0.134 |
|
|
| 25 |
|
c |
GLM013 |
Glomerulonephritis with Sparse Hair and Telangiectases |
11 |
0.134 |
|
|
| 26 |
|
|
IGG001 |
Iga Glomerulonephritis |
48 |
0.126 |
|
|
| 27 |
|
|
HYP027 |
Hypobetalipoproteinemia |
47 |
0.126 |
|
|
| 28 |
|
|
MLR006 |
Male Reproductive Organ Cancer |
27 |
0.126 |
|
|
| 29 |
|
|
SRC006 |
Sarcoid Meningitis |
13 |
0.126 |
|
|
| 30 |
|
c |
NPH049 |
Nephrotic Syndrome, Type 2 |
33 |
0.116 |
|
|
| 31 |
|
|
CRB009 |
Cerebritis |
49 |
0.106 |
|
|
| 32 |
|
|
HYD028 |
Hydrops, Ectopic Calcification, Moth-eaten Skeletal Dysplasia |
34 |
0.106 |
|
|
| 33 |
|
|
INF051 |
Infantile Recurrent Chronic Multifocal Osteomyolitis |
14 |
0.106 |
|
|
| 34 |
|
|
ANK002 |
Ankylosing Spondylitis |
67 |
0.095 |
|
|
| 35 |
|
P |
INT099 |
Intrahepatic Cholestasis of Pregnancy |
57 |
0.095 |
|
|
| 36 |
|
P |
EMR001 |
Emery-dreifuss Muscular Dystrophy |
54 |
0.095 |
|
|
| 37 |
|
|
MYC002 |
Mycobacterium Avium Complex Disease |
49 |
0.095 |
|
|
| 38 |
|
|
HPT025 |
Hepatic Lipase Deficiency |
44 |
0.095 |
|
|
| 39 |
|
|
FCT013 |
Factor V Leiden Thrombophilia |
36 |
0.095 |
|
|
| 40 |
|
c |
NPH038 |
Nephrotic Syndrome Type 3 |
26 |
0.095 |
|
|
| 41 |
|
c |
DBT009 |
Diabetes Mellitus |
73 |
0.082 |
|
|
| 42 |
|
|
RTT002 |
Rett Syndrome |
67 |
0.082 |
|
|
| 43 |
|
|
PRT039 |
Proteinuria |
57 |
0.082 |
|
|
| 44 |
|
P |
NPH009 |
Nephrolithiasis |
55 |
0.082 |
|
|
| 45 |
|
|
NPH051 |
Nephritis |
52 |
0.082 |
|
|
| 46 |
|
P |
ACR001 |
Aicardi-goutieres Syndrome |
42 |
0.082 |
|
|
| 47 |
|
|
PRM024 |
Primary Angle-closure Glaucoma |
41 |
0.082 |
|
|
| 48 |
|
|
DFC001 |
Defective Apolipoprotein B-100 |
38 |
0.082 |
|
|
| 49 |
|
|
HMR018 |
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts |
22 |
0.082 |
|
|
| 50 |
|
|
INT100 |
Intrathoracic Kidney Vertebral Fusion |
12 |
0.082 |
|
|
| 51 |
|
P |
OBS005 |
Obesity |
77 |
0.067 |
|
|
| 52 |
|
|
AND002 |
Androgen Insensitivity Syndrome |
68 |
0.067 |
|
|
| 53 |
|
P |
ANG001 |
Angelman Syndrome |
63 |
0.067 |
|
|
| 54 |
|
|
END072 |
Endotheliitis |
62 |
0.067 |
|
|
| 55 |
|
P |
GLM007 |
Glomerulonephritis |
61 |
0.067 |
|
|
| 56 |
|
|
HYP117 |
Hypertriglyceridemia |
60 |
0.067 |
|
|
| 57 |
|
|
ABT001 |
Abetalipoproteinemia |
60 |
0.067 |
|
|
| 58 |
|
P |
PRM002 |
Primary Hyperoxaluria |
59 |
0.067 |
|
|
| 59 |
|
|
ART019 |
Aortic Valve Stenosis |
57 |
0.067 |
|
|
| 60 |
|
|
LPS007 |
Lupus Nephritis |
52 |
0.067 |
|
|
| 61 |
|
|
ASP003 |
Aseptic Meningitis |
51 |
0.067 |
|
|
| 62 |
|
|
EVN001 |
Evans' Syndrome |
49 |
0.067 |
|
|
| 63 |
|
|
ART004 |
Aortic Atherosclerosis |
49 |
0.067 |
|
|
| 64 |
|
c |
AXN002 |
Axenfeld-rieger Syndrome |
48 |
0.067 |
|
|
| 65 |
|
|
RPD001 |
Rapidly Progressive Glomerulonephritis |
46 |
0.067 |
|
|
| 66 |
|
|
FML016 |
Familial Hypertriglyceridemia |
44 |
0.067 |
|
|
| 67 |
|
|
AGT001 |
Agat Deficiency |
38 |
0.067 |
|
|
| 68 |
|
|
HRS011 |
Horseshoe Kidney |
35 |
0.067 |
|
|
| 69 |
|
|
MNN024 |
Meningitis and Encephalitis |
33 |
0.067 |
|
|
| 70 |
|
|
EMN001 |
Emanuel Syndrome |
30 |
0.067 |
|
|
| 71 |
|
|
RCR001 |
Recurrent Corneal Erosion |
26 |
0.067 |
|
|
| 72 |
|
|
AND005 |
Androgen Insensitivity Syndrome, Mild |
21 |
0.067 |
|
|
| 73 |
|
|
NNS006 |
Non-suppurative Otitis Media |
21 |
0.067 |
|
|
| 74 |
|
|
DYS034 |
Dyschondrosteosis Nephritis |
20 |
0.067 |
|
|
| 75 |
|
|
BNG076 |
Benign Exophthalmos Syndrome |
17 |
0.067 |
|
|
| 76 |
|
P |
HYP075 |
Hypertension |
78 |
0.047 |
|
|
| 77 |
|
|
BRN024 |
Bronchitis |
75 |
0.047 |
|
|
| 78 |
|
P |
FML021 |
Familial Hypercholesterolemia |
73 |
0.047 |
|
|
| 79 |
|
c |
TYP009 |
Type 2 Diabetes Mellitus |
69 |
0.047 |
|
|
| 80 |
|
|
WGN002 |
Wegener's Granulomatosis |
68 |
0.047 |
|
|
| 81 |
|
c |
HPT021 |
Hepatitis |
68 |
0.047 |
|
|
| 82 |
|
|
FBR012 |
Fabry Disease |
67 |
0.047 |
|
|
| 83 |
|
|
BHC002 |
Behcet's Disease |
66 |
0.047 |
|
|
| 84 |
|
c |
FML018 |
Familial Mediterranean Fever |
64 |
0.047 |
|
|
| 85 |
|
|
MNN013 |
Meningitis |
64 |
0.047 |
|
|
| 86 |
|
|
WSK001 |
Wiskott-aldrich Syndrome |
64 |
0.047 |
|
|
| 87 |
|
P |
HYP095 |
Hypercholesterolemia |
64 |
0.047 |
|
|
| 88 |
|
|
THR024 |
Thrombosis |
60 |
0.047 |
|
|
| 89 |
|
P |
AMY004 |
Amyloidosis |
60 |
0.047 |
|
|
| 90 |
|
P |
FML012 |
Familial Partial Lipodystrophy |
60 |
0.047 |
|
|
| 91 |
|
|
TNG002 |
Tangier Disease |
59 |
0.047 |
|
|
| 92 |
|
P |
PRT014 |
Protein S Deficiency |
59 |
0.047 |
|
|
| 93 |
|
|
CHR001 |
Churg-strauss Syndrome |
58 |
0.047 |
|
|
| 94 |
|
P |
PRD006 |
Prader-willi Syndrome |
57 |
0.047 |
|
|
| 95 |
|
|
NRN002 |
Neuronitis |
57 |
0.047 |
|
|
| 96 |
|
|
CST002 |
Castleman's Disease |
57 |
0.047 |
|
|
| 97 |
|
P |
RBN001 |
Rubinstein-taybi Syndrome |
56 |
0.047 |
|
|
| 98 |
|
|
BCT007 |
Bacterial Meningitis |
56 |
0.047 |
|
|
| 99 |
|
|
RTH001 |
Rothmund-thomson Syndrome |
56 |
0.047 |
|
|
| 100 |
|
|
RLP001 |
Relapsing Polychondritis |
56 |
0.047 |
|
|
| 101 |
|
P |
BRN019 |
Bernard-soulier Syndrome |
56 |
0.047 |
|
|
| 102 |
|
|
OBS029 |
Obesity, Association with |
55 |
0.047 |
|
|
| 103 |
|
|
MXD030 |
Mixed Cryoglobulinemia |
54 |
0.047 |
|
|
| 104 |
|
|
MCR088 |
Microscopic Polyangiitis |
54 |
0.047 |
|
|
| 105 |
|
P |
FCL005 |
Focal Segmental Glomerulosclerosis |
54 |
0.047 |
|
|
| 106 |
|
|
OCL005 |
Oculocerebrorenal Syndrome |
53 |
0.047 |
|
|
| 107 |
|
|
NLP001 |
Nail-patella Syndrome |
53 |
0.047 |
|
|
| 108 |
|
|
INT067 |
Interstitial Nephritis |
52 |
0.047 |
|
|
| 109 |
|
|
MLS001 |
Melas Syndrome |
51 |
0.047 |
|
|
| 110 |
|
|
LPP001 |
Lipoprotein Lipase Deficiency |
51 |
0.047 |
|
|
| 111 |
|
|
ALS001 |
Alstrom Syndrome |
50 |
0.047 |
|
|
| 112 |
|
P |
EPD009 |
Epidermolysis Bullosa Dystrophica |
50 |
0.047 |
|
|
| 113 |
|
P |
GLL020 |
Gallbladder Disease |
50 |
0.047 |
|
|
| 114 |
|
|
FMR011 |
Fumarate Hydratase Deficiency |
50 |
0.047 |
|
|
| 115 |
|
|
CRT016 |
Carotid Artery Disease |
50 |
0.047 |
|
|
| 116 |
|
|
WST001 |
West Syndrome |
49 |
0.047 |
|
|
| 117 |
|
|
HML001 |
Hemolytic-uremic Syndrome |
49 |
0.047 |
|
|
| 118 |
|
|
ARC002 |
Arachnoiditis |
48 |
0.047 |
|
|
| 119 |
|
|
GDP001 |
Goodpasture Syndrome |
47 |
0.047 |
|
|
| 120 |
|
|
CRN029 |
Coronary Arteriosclerosis |
47 |
0.047 |
|
|
| 121 |
|
|
TBR011 |
Tuberculous Meningitis |
46 |
0.047 |
|
|
| 122 |
|
|
MSN001 |
Mesangial Proliferative Glomerulonephritis |
46 |
0.047 |
|
|
| 123 |
|
|
ART017 |
Aortic Disease |
45 |
0.047 |
|
|
| 124 |
|
P |
BNG049 |
Benign Recurrent Intrahepatic Cholestasis |
44 |
0.047 |
|
|
| 125 |
|
|
VRL012 |
Viral Meningitis |
44 |
0.047 |
|
|
| 126 |
|
P |
ACH003 |
Achromatopsia |
44 |
0.047 |
|
|
| 127 |
|
|
FRS002 |
Frasier Syndrome |
43 |
0.047 |
|
|
| 128 |
|
|
RLY001 |
Riley-day Syndrome |
43 |
0.047 |
|
|
| 129 |
|
c |
HYP011 |
Hyperlipoproteinemia Type Iii |
43 |
0.047 |
|
|
| 130 |
|
|
LPC002 |
Lip Cancer |
42 |
0.047 |
|
|
| 131 |
|
|
HNC001 |
Henoch-schoenlein Purpura |
42 |
0.047 |
|
|
| 132 |
|
|
CTP002 |
Cetp Deficiency |
41 |
0.047 |
|
|
| 133 |
|
|
ACT100 |
Acute Febrile Neutrophilic Dermatosis |
39 |
0.047 |
|
|
| 134 |
|
P |
CCK003 |
Cockayne Syndrome Type Ii |
39 |
0.047 |
|
|
| 135 |
|
P |
LYM029 |
Lymphedema-distichiasis Syndrome |
39 |
0.047 |
|
|
| 136 |
|
|
THR013 |
Thoracic Outlet Syndrome |
38 |
0.047 |
|
|
| 137 |
|
|
ATS018 |
Autosomal Recessive Alport Syndrome |
38 |
0.047 |
|
|
| 138 |
|
|
SCH016 |
Schimke Immunoosseous Dysplasia |
36 |
0.047 |
|
|
| 139 |
|
|
MJD001 |
Majeed Syndrome |
34 |
0.047 |
|
|
| 140 |
|
|
BLL012 |
Bullous Impetigo |
32 |
0.047 |
|
|
| 141 |
|
P |
HYP289 |
Hyperlipoproteinemia, Type Ib |
30 |
0.047 |
|
|
| 142 |
|
P |
CNG095 |
Congenital Generalized Lipodystrophy Type 2 |
27 |
0.047 |
|
|
| 143 |
|
|
SLP004 |
Salpingo-oophoritis |
24 |
0.047 |
|
|
| 144 |
|
c |
HYP032 |
Hyperlipoproteinemia Type Iv |
23 |
0.047 |
|
|
| 145 |
|
|
HYD004 |
Hydrops of Gallbladder |
21 |
0.047 |
|
|
| 146 |
|
|
BRR005 |
Barraquer-simons Syndrome |
21 |
0.047 |
|
|
| 147 |
|
c |
CMP042 |
Complement Factor H Deficiency |
19 |
0.047 |
|
|
| 148 |
|
|
DBT017 |
Diabetes-deafness Syndrome, Maternally Transmitted |
18 |
0.047 |
|
|
| 149 |
|
|
HYD026 |
Hydrops Ectrodactyly Syndactyly |
17 |
0.047 |
|
|
| 150 |
|
|
HYP461 |
Hypocomplementemic Urticarial Vasculitis Syndrome |
14 |
0.047 |
|
|
| 151 |
|
|
INT050 |
Intestinal Impaction |
14 |
0.047 |
|
|
| 152 |
|
|
ALP058 |
Alport Syndrome - Intellectual Deficit - Midface Hypoplasia - Elliptocytosis |
13 |
0.047 |
|
|
| 153 |
|
|
RCR003 |
Recurrent Peripheral Facial Palsy |
13 |
0.047 |
|
|
| 154 |
|
|
ALL011 |
Allain-babin-demarquez Syndrome |
11 |
0.047 |
|
|
| 155 |
|
|
SLC010 |
Salcedo Syndrome |
11 |
0.047 |
|
|
