# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
CNN011 |
Cenani-Lenz Syndactyly Syndrome |
51 |
74.676 |
|
2 |
|
P
|
SCL048 |
Sclerosteosis |
58 |
59.126 |
|
3 |
|
c
|
SCL042 |
Sclerosteosis 2 |
40 |
58.669 |
|
4 |
|
c
|
MYS056 |
Myasthenic Syndrome, Congenital, 17 |
35 |
56.857 |
|
5 |
|
P
|
CNG001 |
Congenital Myasthenic Syndrome |
68 |
50.715 |
|
6 |
|
P
|
MYS003 |
Myasthenia Gravis |
68 |
26.154 |
|
7 |
|
|
CHR619 |
Chromosome 2q35 Duplication Syndrome |
64 |
15.702 |
|
8 |
|
|
SYN005 |
Synostosis |
43 |
13.441 |
|
9 |
|
P
|
PTS002 |
Ptosis |
52 |
13.224 |
|
10 |
|
P
|
RDL002 |
Radioulnar Synostosis |
47 |
12.903 |
|
11 |
|
|
HYP068 |
Hyperostosis |
47 |
12.443 |
|
12 |
|
|
NRM005 |
Neuromuscular Disease |
63 |
10.373 |
|
13 |
|
c
|
SCL045 |
Sclerosteosis 1 |
47 |
8.735 |
|
14 |
|
c
|
CHR320 |
Chiari Malformation Type I |
46 |
8.255 |
|
15 |
|
P
|
CHR342 |
Chiari Malformation |
41 |
8.255 |
|
16 |
|
|
PST063 |
Postsynaptic Congenital Myasthenic Syndromes |
34 |
8.154 |
|
17 |
|
P
|
VNB005 |
Van Buchem Disease |
58 |
8.014 |
|
18 |
|
P
|
NRM006 |
Neuromuscular Junction Disease |
34 |
8.014 |
|
19 |
|
P
|
NNT006 |
Neonatal Myasthenia Gravis |
27 |
7.430 |
|
20 |
|
|
THY026 |
Thymus Gland Disease |
27 |
7.430 |
|
21 |
|
|
THY025 |
Thymus Cancer |
55 |
7.430 |
|
22 |
|
|
UTR020 |
Uterine Inversion |
27 |
7.430 |
|
23 |
|
|
ATM095 |
Autoimmune Disease |
61 |
6.444 |
|
24 |
|
c
|
THY107 |
Thymoma, Familial |
42 |
5.627 |
|
25 |
|
P
|
THY023 |
Thymoma |
64 |
5.627 |
|
26 |
|
c
|
AMY091 |
Amyotrophic Lateral Sclerosis 1 |
88 |
4.828 |
|
27 |
|
P
|
LTR001 |
Lateral Sclerosis |
58 |
4.828 |
|
28 |
|
|
BNR002 |
Bone Resorption Disease |
47 |
3.442 |
|
29 |
|
P
|
OVR082 |
Overgrowth Syndrome |
49 |
3.300 |
|
30 |
|
|
CRB004 |
Cerebral Artery Occlusion |
45 |
2.866 |
|
31 |
|
|
ISC004 |
Ischemia |
61 |
2.866 |
|
32 |
|
|
BRN071 |
Brain Injury |
50 |
2.866 |
|
33 |
|
P
|
SZR006 |
Seizure Disorder |
70 |
2.704 |
|
34 |
|
|
THY029 |
Thyroid Carcinoma |
51 |
2.704 |
|
35 |
|
P
|
GST053 |
Gastric Cancer |
83 |
2.618 |
|
36 |
|
P
|
BND020 |
Bone Disease |
59 |
2.618 |
|
37 |
|
P
|
RNL100 |
Renal Hypodysplasia/aplasia 1 |
63 |
2.528 |
|
38 |
|
P
|
MSC005 |
Muscular Dystrophy |
67 |
2.510 |
|
39 |
|
|
LMB002 |
Lambert-Eaton Myasthenic Syndrome |
52 |
2.434 |
|
40 |
|
|
ATS010 |
Autosomal Recessive Disease |
42 |
2.333 |
|
41 |
|
|
RBS001 |
Rabies |
58 |
2.333 |
|
42 |
|
|
PLY012 |
Polyhydramnios |
46 |
2.227 |
|
43 |
|
|
OLG003 |
Oligohydramnios |
51 |
2.227 |
|
44 |
|
|
RCH001 |
Richter's Syndrome |
45 |
2.112 |
|
45 |
|
P
|
MYP004 |
Myopathy |
67 |
1.976 |
|
46 |
|
P
|
FML011 |
Familial Adenomatous Polyposis |
71 |
1.850 |
|
47 |
|
P
|
SCL018 |
Scoliosis |
57 |
1.850 |
|
48 |
|
|
MCR013 |
Microphthalmia |
60 |
1.850 |
|
49 |
|
c
|
MYS076 |
Myasthenic Syndrome, Congenital, 8 |
40 |
1.694 |
|
50 |
|
c
|
EXS020 |
Exostoses, Multiple, Type Ii |
38 |
1.694 |
|
51 |
|
P
|
RSP003 |
Respiratory Failure |
74 |
1.651 |
|
52 |
|
|
ALP042 |
Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity |
65 |
1.544 |
|
53 |
|
|
RNL025 |
Renal Hypoplasia |
41 |
1.508 |
|
54 |
|
P
|
ECT045 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
35 |
1.508 |
|
55 |
|
P
|
SPL061 |
Split Hand-Foot Malformation |
43 |
1.508 |
|
56 |
|
|
CLF001 |
Cleft Lip |
53 |
1.508 |
|
57 |
|
|
ATX031 |
Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus |
58 |
1.508 |
|
58 |
|
P
|
ECT006 |
Ectodermal Dysplasia |
63 |
1.508 |
|
59 |
|
|
SKL017 |
Skeletal Dysplasias |
41 |
1.429 |
|
60 |
|
P
|
MSC003 |
Muscular Atrophy |
52 |
1.429 |
|
61 |
|
|
YMN001 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
66 |
1.305 |
|
62 |
|
c
|
BRN108 |
Branchiootic Syndrome 1 |
62 |
1.305 |
|
63 |
|
P
|
ART106 |
Arterial Calcification, Generalized, of Infancy, 1 |
48 |
1.305 |
|
64 |
|
|
SCH068 |
Schwartz-Jampel Syndrome, Type 1 |
52 |
1.305 |
|
65 |
|
|
INT075 |
Intracranial Hypertension |
53 |
1.305 |
|
66 |
|
P
|
THY032 |
Thyroiditis |
57 |
1.305 |
|
67 |
|
c
|
MSC165 |
Muscular Dystrophy, Congenital, Lmna-Related |
65 |
1.266 |
|
68 |
|
|
TTN003 |
Tetanus |
65 |
1.266 |
|
69 |
|
|
HYP056 |
Hypoglycemia |
65 |
1.266 |
|
70 |
|
P
|
EPS003 |
Episodic Ataxia |
59 |
1.266 |
|
71 |
|
P
|
OST002 |
Osteoporosis |
76 |
1.167 |
|
72 |
|
c
|
BNM022 |
Bone Mineral Density Quantitative Trait Locus 8 |
45 |
1.167 |
|
73 |
|
P
|
BNM029 |
Bone Mineral Density Quantitative Trait Locus 15 |
48 |
1.167 |
|
74 |
|
|
HRW001 |
Hair Whorl |
35 |
1.167 |
|
75 |
|
P
|
MTR014 |
Motor Neuron Disease |
65 |
1.167 |
|
76 |
|
|
AGN016 |
Aging |
54 |
1.011 |
|
77 |
|
|
OST024 |
Osteoporosis-Pseudoglioma Syndrome |
60 |
1.011 |
|
78 |
|
c
|
THY109 |
Thyroid Cancer, Nonmedullary, 1 |
55 |
1.011 |
|
79 |
|
|
NRM001 |
Neuromyelitis Optica |
61 |
1.011 |
|
80 |
|
|
TTH030 |
Teeth, Supernumerary |
33 |
0.825 |
|
81 |
|
c
|
BNM018 |
Bone Mineral Density Quantitative Trait Locus 3 |
33 |
0.825 |
|
82 |
|
|
MYS054 |
Myasthenic Syndrome, Congenital, 9, Associated with Acetylcholine Receptor Deficiency |
31 |
0.825 |
|
83 |
|
P
|
SPN046 |
Spinal Muscular Atrophy |
63 |
0.825 |
|
84 |
|
P
|
GLL022 |
Guillain-Barre Syndrome |
60 |
0.825 |
|
85 |
|
P
|
HYP076 |
Hyperthyroidism |
53 |
0.825 |
|
86 |
|
P
|
OST001 |
Osteopetrosis |
71 |
0.825 |
|
87 |
|
|
NRN004 |
Neuroendocrine Tumor |
59 |
0.825 |
|
88 |
|
|
DYS073 |
Dysphagia |
53 |
0.825 |
|
89 |
|
|
LYM133 |
Lymphoma, Hodgkin, Classic |
74 |
0.683 |
|
90 |
|
P
|
LYM118 |
Lymphoma |
67 |
0.683 |
|
91 |
|
|
GRN017 |
Granulocytopenia |
42 |
0.683 |
|
92 |
|
|
ATM061 |
Autoimmune Polyglandular Syndrome Type 3 |
28 |
0.683 |
|
93 |
|
P
|
BRS047 |
Breast Cancer |
98 |
0.602 |
|
94 |
|
P
|
PNC035 |
Pancreatic Cancer |
86 |
0.602 |
|
95 |
|
P
|
SYN140 |
Syndrome with 46,xy Disorder of Sex Development |
20 |
0.584 |
|
96 |
|
|
CHR675 |
Chronic Relapsing Inflammatory Optic Neuropathy |
14 |
0.584 |
|
97 |
|
|
CNG506 |
Congenital Amyoplasia |
27 |
0.584 |
|
98 |
|
P
|
CRN300 |
Coronary Heart Disease 1 |
73 |
0.584 |
|
99 |
|
c
|
BDY010 |
Body Mass Index Quantitative Trait Locus 4 |
46 |
0.584 |
|
100 |
|
c
|
BDY011 |
Body Mass Index Quantitative Trait Locus 10 |
45 |
0.584 |
|
101 |
|
c
|
BDY005 |
Body Mass Index Quantitative Trait Locus 9 |
47 |
0.584 |
|
102 |
|
|
BRT054 |
Brittle Bone Disorder |
74 |
0.584 |
|
103 |
|
P
|
SCH015 |
Schizophrenia |
74 |
0.584 |
|
104 |
|
P
|
MYS005 |
Myositis |
56 |
0.584 |
|
105 |
|
c
|
SYS001 |
Systemic Lupus Erythematosus |
87 |
0.584 |
|
106 |
|
c
|
BDY012 |
Body Mass Index Quantitative Trait Locus 7 |
44 |
0.584 |
|
107 |
|
|
FDB001 |
Foodborne Botulism |
55 |
0.584 |
|
108 |
|
P
|
SLP006 |
Sleep Apnea |
69 |
0.584 |
|
109 |
|
c
|
BNM028 |
Bone Mineral Density Quantitative Trait Locus 14 |
9 |
0.584 |
|
110 |
|
c
|
46X055 |
46,xy Sex Reversal 3 |
40 |
0.584 |
|
111 |
|
P
|
BDY004 |
Body Mass Index Quantitative Trait Locus 11 |
83 |
0.584 |
|
112 |
|
c
|
BDY006 |
Body Mass Index Quantitative Trait Locus 8 |
44 |
0.584 |
|
113 |
|
c
|
BDY017 |
Body Mass Index Quantitative Trait Locus 14 |
45 |
0.584 |
|
114 |
|
c
|
BDY020 |
Body Mass Index Quantitative Trait Locus 19 |
52 |
0.584 |
|
115 |
|
c
|
BNM023 |
Bone Mineral Density Quantitative Trait Locus 9 |
9 |
0.584 |
|
116 |
|
c
|
BNM024 |
Bone Mineral Density Quantitative Trait Locus 10 |
9 |
0.584 |
|
117 |
|
c
|
BDY015 |
Body Mass Index Quantitative Trait Locus 12 |
46 |
0.584 |
|
118 |
|
|
MYL005 |
Myelofibrosis |
71 |
0.584 |
|
119 |
|
|
MYL069 |
Myeloma, Multiple |
77 |
0.584 |
|
120 |
|
|
HYP732 |
Hyperalphalipoproteinemia 1 |
52 |
0.584 |
|
121 |
|
|
INC002 |
Inclusion Body Myositis |
57 |
0.584 |
|
122 |
|
|
PMP006 |
Pemphigus Vulgaris, Familial |
58 |
0.584 |
|
123 |
|
P
|
HPT023 |
Hepatocellular Carcinoma |
96 |
0.584 |
|
124 |
|
|
RPD005 |
Rapidly Involuting Congenital Hemangioma |
46 |
0.584 |
|
125 |
|
P
|
LPS004 |
Lupus Erythematosus |
61 |
0.584 |
|
126 |
|
P
|
PMP001 |
Pemphigus |
55 |
0.584 |
|
127 |
|
P
|
DBT009 |
Diabetes Mellitus |
67 |
0.584 |
|
128 |
|
P
|
OPT006 |
Optic Nerve Disease |
58 |
0.584 |
|
129 |
|
P
|
MST009 |
Mastocytosis |
64 |
0.584 |
|
130 |
|
P
|
PLM036 |
Pulmonary Fibrosis |
66 |
0.584 |
|
131 |
|
|
OST012 |
Osteoarthritis |
77 |
0.584 |
|
132 |
|
c
|
BDY019 |
Body Mass Index Quantitative Trait Locus 18 |
47 |
0.584 |
|
133 |
|
|
PPL002 |
Papillary Carcinoma |
46 |
0.584 |
|
134 |
|
|
CHR070 |
Chronic Inflammatory Demyelinating Polyradiculoneuropathy |
57 |
0.584 |
|
135 |
|
P
|
DMY001 |
Demyelinating Polyneuropathy |
41 |
0.584 |
|
136 |
|
|
LPD008 |
Lipid Metabolism Disorder |
62 |
0.584 |
|
137 |
|
P
|
DYS007 |
Dyskeratosis Congenita |
67 |
0.584 |
|
138 |
|
|
MDD011 |
Mood Disorder |
62 |
0.584 |
|
139 |
|
P
|
PLY019 |
Polyneuropathy |
52 |
0.584 |
|
140 |
|
P
|
GND004 |
Gonadal Dysgenesis |
47 |
0.584 |
|
141 |
|
|
PMS001 |
Poems Syndrome |
60 |
0.584 |
|
142 |
|
P
|
DSR090 |
Disorder of Sexual Development |
44 |
0.584 |
|
143 |
|
|
HYP080 |
Hypogonadism |
50 |
0.584 |
|
144 |
|
|
SQM006 |
Squamous Cell Carcinoma |
60 |
0.584 |
|
145 |
|
c
|
MTC014 |
Mitochondrial Dna Deletion Syndromes |
16 |
0.584 |
|
146 |
|
P
|
MYC008 |
Myocarditis |
59 |
0.584 |
|
147 |
|
|
PTH003 |
Pathologic Nystagmus |
52 |
0.584 |
|
148 |
|
|
ORL012 |
Oral Leukoplakia |
36 |
0.584 |
|
149 |
|
|
SST002 |
Sost-Related Sclerosing Bone Dysplasias |
10 |
0.584 |
|
150 |
|
P
|
HYP265 |
Hypotonia |
42 |
0.584 |
|
151 |
|
|
LKP003 |
Leukoplakia |
39 |
0.584 |
|
152 |
|
P
|
INH011 |
Inherited Bone Marrow Failure Syndromes |
32 |
0.584 |
|
153 |
|
|
HPT070 |
Hepatosplenic T-Cell Lymphoma |
36 |
0.430 |
|
154 |
|
c
|
WLM018 |
Wilms Tumor 5 |
53 |
0.430 |
|