# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
c
|
BRN128 |
Branchiootic Syndrome 3 |
27 |
46.716 |
|
2 |
|
c
|
DFN192 |
Deafness, Autosomal Dominant 23 |
31 |
44.822 |
|
3 |
|
P
|
BRN006 |
Branchiootorenal Syndrome |
50 |
39.945 |
|
4 |
|
|
ATS251 |
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna |
38 |
39.193 |
|
5 |
|
P
|
BRN042 |
Branchiootic Syndrome |
41 |
32.085 |
|
6 |
|
c
|
BRN131 |
Branchiootorenal Syndrome 1 |
45 |
25.378 |
|
7 |
|
P
|
OPN001 |
Open-Angle Glaucoma |
55 |
15.374 |
|
8 |
|
c
|
BRN138 |
Branchiootorenal Spectrum Disorder |
19 |
13.919 |
|
9 |
|
c
|
BRN108 |
Branchiootic Syndrome 1 |
62 |
13.431 |
|
10 |
|
|
URN009 |
Urinary System Disease |
47 |
13.016 |
|
11 |
|
c
|
GLC092 |
Glaucoma, Primary Open Angle |
62 |
12.139 |
|
12 |
|
P
|
RNL100 |
Renal Hypodysplasia/aplasia 1 |
63 |
10.946 |
|
13 |
|
|
MLG077 |
Malignant Peripheral Nerve Sheath Tumor |
54 |
10.567 |
|
14 |
|
c
|
FRS014 |
Fraser Syndrome 1 |
56 |
10.023 |
|
15 |
|
P
|
NNS072 |
Nonsyndromic Hearing Loss |
40 |
10.023 |
|
16 |
|
P
|
TWN003 |
Townes-Brocks Syndrome |
55 |
9.816 |
|
17 |
|
|
CKT002 |
Cakut |
47 |
9.670 |
|
18 |
|
|
RNL025 |
Renal Hypoplasia |
41 |
9.593 |
|
19 |
|
c
|
DFN107 |
Deafness, Autosomal Dominant 10 |
40 |
8.720 |
|
20 |
|
|
CMP097 |
Complex Chromosomal Rearrangement |
23 |
8.650 |
|
21 |
|
c
|
BRN086 |
Branchiootorenal Syndrome 2 |
32 |
8.650 |
|
22 |
|
P
|
HLP001 |
Holoprosencephaly |
69 |
8.650 |
|
23 |
|
c
|
WLM013 |
Wilms Tumor 1 |
66 |
8.477 |
|
24 |
|
|
PPL048 |
Papillorenal Syndrome |
58 |
8.176 |
|
25 |
|
c
|
VSC019 |
Vesicoureteral Reflux 1 |
57 |
8.030 |
|
26 |
|
|
GLC084 |
Glaucoma, Normal Tension |
45 |
7.087 |
|
27 |
|
|
WLS003 |
Wilson-Turner X-Linked Mental Retardation Syndrome |
47 |
7.087 |
|
28 |
|
|
PRN038 |
Prune Belly Syndrome |
56 |
7.087 |
|
29 |
|
c
|
ATS005 |
Autosomal Dominant Nonsyndromic Deafness |
24 |
7.087 |
|
30 |
|
|
PTL001 |
Patulous Eustachian Tube |
34 |
7.087 |
|
31 |
|
|
EST006 |
Eustachian Tube Disease |
27 |
7.087 |
|
32 |
|
P
|
HPT023 |
Hepatocellular Carcinoma |
96 |
6.177 |
|
33 |
|
|
CRV035 |
Cervical Cancer |
73 |
6.064 |
|
34 |
|
|
BRN121 |
Branchiootorenal/branchiootic Syndrome |
21 |
5.994 |
|
35 |
|
|
OST159 |
Osteogenic Sarcoma |
66 |
5.313 |
|
36 |
|
|
HLX001 |
Helix Syndrome |
48 |
5.291 |
|
37 |
|
|
INT323 |
Intraocular Pressure Quantitative Trait Locus |
64 |
5.204 |
|
38 |
|
|
END057 |
Endometrial Cancer |
72 |
5.012 |
|
39 |
|
P
|
CLR023 |
Colorectal Cancer |
100 |
4.933 |
|
40 |
|
|
SQM006 |
Squamous Cell Carcinoma |
60 |
4.597 |
|
41 |
|
P
|
RHB003 |
Rhabdomyosarcoma |
66 |
4.368 |
|
42 |
|
|
THY029 |
Thyroid Carcinoma |
51 |
4.341 |
|
43 |
|
P
|
OVR042 |
Ovarian Cancer |
88 |
4.329 |
|
44 |
|
P
|
GST053 |
Gastric Cancer |
83 |
4.320 |
|
45 |
|
|
ATX031 |
Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus |
58 |
4.295 |
|
46 |
|
P
|
AST005 |
Asthma |
76 |
4.222 |
|
47 |
|
P
|
ADN016 |
Adenocarcinoma |
63 |
3.963 |
|
48 |
|
P
|
PNC035 |
Pancreatic Cancer |
86 |
3.905 |
|
49 |
|
|
HYD002 |
Hydronephrosis |
58 |
3.809 |
|
50 |
|
c
|
THY109 |
Thyroid Cancer, Nonmedullary, 1 |
55 |
3.431 |
|
51 |
|
P
|
PRS040 |
Prostate Cancer |
95 |
3.372 |
|
52 |
|
P
|
MLN008 |
Melanoma |
76 |
3.312 |
|
53 |
|
|
GLL048 |
Glial Tumor |
52 |
3.250 |
|
54 |
|
|
GLM045 |
Glioma |
63 |
3.250 |
|
55 |
|
P
|
LNG064 |
Lung Cancer Susceptibility 3 |
70 |
3.215 |
|
56 |
|
P
|
MYL006 |
Myeloid Leukemia |
61 |
3.187 |
|
57 |
|
|
GST040 |
Gastric Adenocarcinoma |
67 |
3.174 |
|
58 |
|
|
DGR001 |
Digeorge Syndrome |
62 |
3.071 |
|
59 |
|
P
|
LKM002 |
Leukemia |
67 |
3.055 |
|
60 |
|
|
CRV002 |
Cervix Uteri Carcinoma in Situ |
47 |
2.993 |
|
61 |
|
|
CRV045 |
Cervical Intraepithelial Neoplasia |
39 |
2.993 |
|
|
63 |
|
P
|
PLM036 |
Pulmonary Fibrosis |
66 |
2.986 |
|
64 |
|
P
|
FRN036 |
Frontonasal Dysplasia 1 |
44 |
2.930 |
|
65 |
|
|
PNC041 |
Pancreatic Ductal Adenocarcinoma |
51 |
2.930 |
|
66 |
|
c
|
SML038 |
Small Cell Cancer of the Lung |
69 |
2.914 |
|
67 |
|
P
|
HYP098 |
Hypereosinophilic Syndrome |
66 |
2.840 |
|
68 |
|
|
GLB002 |
Glioblastoma |
67 |
2.840 |
|
69 |
|
P
|
SYN075 |
Syngnathia |
43 |
2.798 |
|
70 |
|
|
FCL090 |
Facial Cleft |
30 |
2.798 |
|
71 |
|
|
SVR004 |
Severe Combined Immunodeficiency |
72 |
2.798 |
|
72 |
|
|
ADN018 |
Adenoma |
59 |
2.763 |
|
73 |
|
|
BRN050 |
Branchial Arch Defects |
8 |
2.729 |
|
74 |
|
P
|
LNG032 |
Lung Cancer |
98 |
2.683 |
|
75 |
|
c
|
CHR684 |
Chronic Kidney Disease |
69 |
2.683 |
|
76 |
|
P
|
TCD001 |
Tic Disorder |
49 |
2.657 |
|
77 |
|
P
|
SNS001 |
Sensorineural Hearing Loss |
59 |
2.599 |
|
78 |
|
|
SYN005 |
Synostosis |
43 |
2.599 |
|
79 |
|
P
|
CRN037 |
Craniosynostosis |
68 |
2.599 |
|
80 |
|
|
LMB009 |
Lambdoid Synostosis |
19 |
2.599 |
|
81 |
|
|
CLN015 |
Colon Adenocarcinoma |
65 |
2.583 |
|
82 |
|
|
ESP021 |
Esophageal Cancer |
83 |
2.506 |
|
83 |
|
c
|
ATR087 |
Atrial Standstill 1 |
74 |
2.426 |
|
84 |
|
c
|
LKM061 |
Leukemia, Acute Myeloid |
83 |
2.426 |
|
85 |
|
|
BRN028 |
Brain Cancer |
74 |
2.426 |
|
86 |
|
|
GTR002 |
Goiter |
53 |
2.426 |
|
87 |
|
|
HGH043 |
High Grade Glioma |
45 |
2.426 |
|
88 |
|
P
|
BNC003 |
Bone Cancer |
58 |
2.426 |
|
89 |
|
P
|
LYM118 |
Lymphoma |
67 |
2.342 |
|
90 |
|
c
|
DPH024 |
Diaphragmatic Hernia, Congenital |
64 |
2.342 |
|
91 |
|
P
|
BCL017 |
B-Cell Lymphoma |
59 |
2.342 |
|
92 |
|
c
|
DLT002 |
Dilated Cardiomyopathy |
78 |
2.342 |
|
93 |
|
|
LRY018 |
Laryngeal Squamous Cell Carcinoma |
44 |
2.342 |
|
94 |
|
|
CNG034 |
Congestive Heart Failure |
69 |
2.342 |
|
95 |
|
P
|
LRY044 |
Larynx Cancer |
54 |
2.342 |
|
96 |
|
P
|
BRS047 |
Breast Cancer |
98 |
2.254 |
|
97 |
|
|
LYM133 |
Lymphoma, Hodgkin, Classic |
74 |
2.254 |
|
98 |
|
c
|
LKM063 |
Leukemia, Chronic Myeloid |
71 |
2.061 |
|
99 |
|
c
|
CHR711 |
Chronic Asthma |
41 |
2.061 |
|
100 |
|
|
ALL006 |
Allergic Asthma |
56 |
2.061 |
|
101 |
|
P
|
HYP040 |
Hypospadias |
51 |
1.954 |
|
102 |
|
P
|
INS002 |
in Situ Carcinoma |
53 |
1.886 |
|
103 |
|
c
|
MSM022 |
Mismatch Repair Cancer Syndrome 1 |
70 |
1.838 |
|
104 |
|
|
LNG105 |
Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome |
35 |
1.838 |
|
105 |
|
|
ORL015 |
Oral Squamous Cell Carcinoma |
43 |
1.838 |
|
106 |
|
|
ADN011 |
Adenoid Cystic Carcinoma |
68 |
1.838 |
|
107 |
|
|
MCP006 |
Mucoepidermoid Carcinoma |
48 |
1.838 |
|
108 |
|
|
LNG039 |
Lung Squamous Cell Carcinoma |
57 |
1.838 |
|
109 |
|
|
DCT002 |
Ductal Carcinoma in Situ |
58 |
1.806 |
|
110 |
|
|
SCT002 |
Scotoma |
42 |
1.709 |
|
111 |
|
|
SKL003 |
Skeletal Muscle Cancer |
28 |
1.709 |
|
112 |
|
|
MSC072 |
Muscle Cancer |
48 |
1.709 |
|
113 |
|
|
MSC007 |
Muscle Hypertrophy |
64 |
1.563 |
|
114 |
|
c
|
RTN041 |
Retinitis Pigmentosa 11 |
42 |
1.563 |
|
115 |
|
P
|
PRK039 |
Parkinsonism |
55 |
1.563 |
|
116 |
|
P
|
NRB001 |
Neuroblastoma |
66 |
1.563 |
|
117 |
|
P
|
RTN016 |
Retinal Degeneration |
52 |
1.390 |
|
118 |
|
|
YMN001 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
66 |
1.334 |
|
119 |
|
|
ACT098 |
Acute Erythroid Leukemia |
55 |
1.334 |
|
120 |
|
|
RPD005 |
Rapidly Involuting Congenital Hemangioma |
46 |
1.334 |
|
121 |
|
|
ENC038 |
Encephalopathy, Progressive, with or Without Lipodystrophy |
40 |
1.217 |
|
122 |
|
|
CLB010 |
Coloboma of Macula |
53 |
1.217 |
|
123 |
|
|
RNL051 |
Renal Cysts and Diabetes Syndrome |
57 |
1.089 |
|
124 |
|
P
|
GLM040 |
Glioma Susceptibility 1 |
71 |
1.089 |
|
125 |
|
P
|
OPT006 |
Optic Nerve Disease |
58 |
1.089 |
|
126 |
|
|
MLG169 |
Malignant Astrocytoma |
57 |
1.089 |
|
127 |
|
|
EMB004 |
Embryonal Carcinoma |
56 |
1.089 |
|
128 |
|
P
|
CYS039 |
Cystic Kidney Disease |
53 |
1.089 |
|
129 |
|
|
PX2001 |
Pax2-Related Disorder |
15 |
1.089 |
|
130 |
|
|
FRY006 |
Fryns Microphthalmia Syndrome |
52 |
0.943 |
|
131 |
|
c
|
MCR251 |
Microphthalmia, Syndromic 6 |
48 |
0.943 |
|
132 |
|
|
FML037 |
Female Breast Cancer |
51 |
0.943 |
|
133 |
|
|
EXF001 |
Exfoliation Syndrome |
56 |
0.943 |
|
134 |
|
P
|
MDL005 |
Medulloblastoma |
75 |
0.943 |
|
135 |
|
P
|
MYP006 |
Myopia |
56 |
0.943 |
|
136 |
|
|
PRM024 |
Primary Angle-Closure Glaucoma |
39 |
0.943 |
|
137 |
|
|
MSC157 |
Muscular Dystrophy, Duchenne Type |
79 |
0.770 |
|
138 |
|
|
GST092 |
Gastroesophageal Reflux |
61 |
0.770 |
|
139 |
|
|
CHN065 |
Choanal Atresia, Posterior |
48 |
0.770 |
|
140 |
|
c
|
MCL042 |
Macular Degeneration, Age-Related, 1 |
85 |
0.770 |
|
141 |
|
|
HRW001 |
Hair Whorl |
35 |
0.770 |
|
142 |
|
|
MNN043 |
Meningioma, Familial |
79 |
0.770 |
|
143 |
|
c
|
ACT073 |
Acute Leukemia |
58 |
0.770 |
|
144 |
|
P
|
MYP004 |
Myopathy |
67 |
0.770 |
|
145 |
|
P
|
MSC005 |
Muscular Dystrophy |
67 |
0.770 |
|
146 |
|
|
SCR001 |
Secretory Meningioma |
40 |
0.770 |
|
147 |
|
|
LYM002 |
Lymphoplasmacyte-Rich Meningioma |
35 |
0.770 |
|
148 |
|
|
PPL022 |
Papilloma |
53 |
0.770 |
|
149 |
|
|
SQM002 |
Squamous Cell Papilloma |
46 |
0.770 |
|
150 |
|
|
PTT001 |
Pituitary Hypoplasia |
34 |
0.770 |
|
151 |
|
|
SPN021 |
Spinal Meningioma |
50 |
0.770 |
|
152 |
|
c
|
WLF013 |
Wolfram Syndrome 1 |
60 |
0.544 |
|
153 |
|
P
|
RRC004 |
Rare Cardiomyopathy |
16 |
0.544 |
|
154 |
|
|
ATS252 |
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb |
41 |
0.544 |
|
155 |
|
P
|
RRD005 |
Rare Deafness |
13 |
0.544 |
|
156 |
|
|
OST115 |
Osteonecrosis of the Jaw |
41 |
0.544 |
|
157 |
|
c
|
STC015 |
Stickler Syndrome, Type I |
51 |
0.544 |
|
158 |
|
|
RTN187 |
Retinitis Pigmentosa-Deafness Syndrome |
48 |
0.544 |
|
159 |
|
|
ALP099 |
Alopecia, Congenital |
23 |
0.544 |
|
160 |
|
|
ANN002 |
Anencephaly |
57 |
0.544 |
|
161 |
|
c
|
DFN159 |
Deafness, Autosomal Dominant 5 |
31 |
0.544 |
|
162 |
|
c
|
HLP024 |
Holoprosencephaly 2 |
49 |
0.544 |
|
163 |
|
|
CLF027 |
Cleft Palate, Isolated |
64 |
0.544 |
|
164 |
|
|
OTT002 |
Otitis Media |
71 |
0.544 |
|
165 |
|
P
|
ANP001 |
Anaplastic Large Cell Lymphoma |
61 |
0.544 |
|
166 |
|
|
ATS010 |
Autosomal Recessive Disease |
42 |
0.544 |
|
167 |
|
c
|
MCR130 |
Microvascular Complications of Diabetes 6 |
41 |
0.544 |
|
168 |
|
P
|
MGL010 |
Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a |
40 |
0.544 |
|
169 |
|
|
HYP561 |
Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness |
27 |
0.544 |
|
170 |
|
P
|
PST016 |
Posterior Polar Cataract |
26 |
0.544 |
|
171 |
|
c
|
DFN188 |
Deafness, Autosomal Recessive 61 |
32 |
0.544 |
|
172 |
|
|
PRT251 |
Proteinuria, Chronic Benign |
57 |
0.544 |
|
173 |
|
P
|
USH001 |
Usher Syndrome |
64 |
0.544 |
|
174 |
|
|
MCR317 |
Macrophthalmia, Colobomatous, with Microcornea |
18 |
0.544 |
|
175 |
|
|
NRL016 |
Neural Tube Defects |
81 |
0.544 |
|
176 |
|
c
|
CTR119 |
Cataract 32, Multiple Types |
30 |
0.544 |
|
177 |
|
|
ERL051 |
Early Response to Neural Induction Gene |
8 |
0.544 |
|
178 |
|
P
|
OCY003 |
Oocyte Maturation Defect 1 |
46 |
0.544 |
|
179 |
|
c
|
MCR120 |
Microvascular Complications of Diabetes 7 |
47 |
0.544 |
|
180 |
|
|
CHR393 |
Chromosome 19p13.13 Deletion Syndrome |
25 |
0.544 |
|
181 |
|
c
|
RHB023 |
Rhabdomyosarcoma, Embryonal, 1 |
45 |
0.544 |
|
182 |
|
|
RHB024 |
Rhabdomyosarcoma 2 |
67 |
0.544 |
|
183 |
|
|
EBS001 |
Ebstein Anomaly |
55 |
0.544 |
|
184 |
|
P
|
SPP010 |
Suppressor of Tumorigenicity 3 |
51 |
0.544 |
|
185 |
|
P
|
STR020 |
Strabismus |
56 |
0.544 |
|
186 |
|
|
HYP748 |
Hypertelorism |
46 |
0.544 |
|
187 |
|
P
|
MSC003 |
Muscular Atrophy |
52 |
0.544 |
|
188 |
|
P
|
KDN018 |
Kidney Disease |
72 |
0.544 |
|
189 |
|
|
MCH006 |
Mechanical Strabismus |
40 |
0.544 |
|
190 |
|
P
|
MTC133 |
Mitochondrial Myopathy |
50 |
0.544 |
|
191 |
|
P
|
ALP008 |
Alopecia |
54 |
0.544 |
|
192 |
|
P
|
VNT002 |
Ventricular Septal Defect |
58 |
0.544 |
|
193 |
|
|
HRT011 |
Heart Septal Defect |
49 |
0.544 |
|
194 |
|
|
ACQ007 |
Acquired Immunodeficiency Syndrome |
59 |
0.544 |
|
195 |
|
|
END086 |
End Stage Renal Disease |
52 |
0.544 |
|
196 |
|
P
|
CTR002 |
Cataract |
60 |
0.544 |
|
197 |
|
|
LNG099 |
Lung Disease |
62 |
0.544 |
|
198 |
|
P
|
PLC011 |
Pilocytic Astrocytoma |
57 |
0.544 |
|
199 |
|
|
CMB007 |
Combined Immunodeficiency |
57 |
0.544 |
|
200 |
|
c
|
MCR113 |
Microvascular Complications of Diabetes 3 |
52 |
0.544 |
|
201 |
|
c
|
MCR133 |
Microvascular Complications of Diabetes 4 |
41 |
0.544 |
|
202 |
|
|
OST003 |
Osteonecrosis |
61 |
0.544 |
|
203 |
|
P
|
HYP024 |
Hypoparathyroidism |
55 |
0.544 |
|
204 |
|
|
ESP020 |
Esophageal Atresia |
60 |
0.544 |
|
205 |
|
|
STR009 |
Stromal Predominant Kidney Wilms' Tumor |
9 |
0.544 |
|
206 |
|
P
|
INF032 |
Infertility |
57 |
0.544 |
|
207 |
|
P
|
EYD002 |
Eye Disease |
57 |
0.544 |
|
208 |
|
|
LCR001 |
Lacrimal Duct Obstruction |
27 |
0.544 |
|
209 |
|
c
|
HPT016 |
Hepatitis B |
62 |
0.544 |
|
210 |
|
|
HRD199 |
Hereditary Hearing Loss and Deafness |
20 |
0.544 |
|
211 |
|
P
|
NRF002 |
Neurofibromatosis |
57 |
0.544 |
|
212 |
|
|
PRR018 |
Preauricular Sinus |
13 |
0.544 |
|
213 |
|
|
SFT003 |
Soft Tissue Sarcoma |
57 |
0.544 |
|
214 |
|
P
|
ADT009 |
Auditory Neuropathy Spectrum Disorder |
34 |
0.544 |
|
215 |
|
c
|
FML094 |
Familial Wilms Tumor 2 |
25 |
0.544 |
|
216 |
|
P
|
ENC008 |
Encephalocele |
46 |
0.544 |
|
217 |
|
|
EXN003 |
Exencephaly |
30 |
0.544 |
|
218 |
|
c
|
WLM018 |
Wilms Tumor 5 |
53 |
0.430 |
|