# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
CHR103 |
Charge Syndrome |
66 |
100.542 |
|
2 |
|
c
|
KLL007 |
Kallmann Syndrome 5 |
15 |
60.911 |
|
3 |
|
c
|
HYP549 |
Hypogonadotropic Hypogonadism 5 with or Without Anosmia |
46 |
55.177 |
|
4 |
|
P
|
KLL001 |
Kallmann Syndrome |
65 |
53.964 |
|
5 |
|
|
CHD009 |
Chd7 Disorder |
9 |
26.167 |
|
6 |
|
P
|
SCL018 |
Scoliosis |
57 |
25.928 |
|
7 |
|
|
CLB010 |
Coloboma of Macula |
53 |
24.721 |
|
8 |
|
P
|
HYP730 |
Hypogonadotropic Hypogonadism |
53 |
23.842 |
|
9 |
|
|
HYP080 |
Hypogonadism |
50 |
22.864 |
|
10 |
|
|
CHN065 |
Choanal Atresia, Posterior |
48 |
22.559 |
|
11 |
|
P
|
HRT032 |
Heart Disease |
81 |
20.271 |
|
12 |
|
P
|
HYP086 |
Hypothyroidism |
69 |
19.866 |
|
13 |
|
P
|
MYP006 |
Myopia |
56 |
19.568 |
|
14 |
|
|
WDM004 |
Wiedemann-Steiner Syndrome |
48 |
15.017 |
|
15 |
|
|
OMN001 |
Omenn Syndrome |
63 |
14.997 |
|
16 |
|
|
IDP070 |
Idiopathic Scoliosis |
42 |
14.690 |
|
17 |
|
c
|
SCL049 |
Scoliosis, Isolated 3 |
17 |
13.210 |
|
18 |
|
P
|
ATR001 |
Atrioventricular Septal Defect |
55 |
12.327 |
|
19 |
|
P
|
VNT002 |
Ventricular Septal Defect |
58 |
12.327 |
|
20 |
|
P
|
SNS001 |
Sensorineural Hearing Loss |
59 |
12.008 |
|
21 |
|
|
CNG562 |
Congenital Hypogonadotropic Hypogonadism |
33 |
11.865 |
|
22 |
|
c
|
BRN108 |
Branchiootic Syndrome 1 |
62 |
11.552 |
|
23 |
|
|
MCR013 |
Microphthalmia |
60 |
11.532 |
|
24 |
|
|
ESP020 |
Esophageal Atresia |
60 |
11.464 |
|
25 |
|
P
|
MCR010 |
Microcephaly |
60 |
11.134 |
|
26 |
|
|
RTN123 |
Retinochoroidal Coloboma |
18 |
10.639 |
|
27 |
|
P
|
ATR010 |
Atrial Heart Septal Defect |
58 |
10.633 |
|
28 |
|
P
|
HYP024 |
Hypoparathyroidism |
55 |
10.524 |
|
29 |
|
|
PYL006 |
Pyloric Stenosis |
48 |
10.131 |
|
30 |
|
|
DSS008 |
Disease of Mental Health |
74 |
10.004 |
|
31 |
|
|
DGR001 |
Digeorge Syndrome |
62 |
9.832 |
|
32 |
|
|
NRM018 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
45 |
9.809 |
|
33 |
|
|
RFR003 |
Refractive Error |
41 |
9.661 |
|
34 |
|
|
CRY035 |
Cryptorchidism, Unilateral or Bilateral |
58 |
9.529 |
|
35 |
|
P
|
NNN008 |
Noonan Syndrome 1 |
77 |
9.294 |
|
36 |
|
|
3MC003 |
3mc Syndrome |
49 |
8.800 |
|
37 |
|
|
PTR032 |
Peters-Plus Syndrome |
63 |
8.792 |
|
38 |
|
|
BRN028 |
Brain Cancer |
74 |
8.792 |
|
39 |
|
|
HRT011 |
Heart Septal Defect |
49 |
8.770 |
|
40 |
|
P
|
PTN014 |
Patent Ductus Arteriosus 1 |
59 |
8.308 |
|
41 |
|
|
ALC028 |
Alacrima, Achalasia, and Mental Retardation Syndrome |
68 |
8.243 |
|
42 |
|
|
VLC001 |
Velocardiofacial Syndrome |
57 |
8.154 |
|
43 |
|
|
PTT041 |
Pituitary Stalk Interruption Syndrome |
54 |
8.058 |
|
44 |
|
P
|
DNR001 |
Duane Retraction Syndrome |
53 |
7.830 |
|
45 |
|
P
|
STR020 |
Strabismus |
56 |
7.804 |
|
46 |
|
P
|
KBK002 |
Kabuki Syndrome 1 |
65 |
7.722 |
|
47 |
|
P
|
RNL100 |
Renal Hypodysplasia/aplasia 1 |
63 |
7.636 |
|
48 |
|
|
INT276 |
Interatrial Communication |
51 |
7.556 |
|
49 |
|
c
|
HYP513 |
Hypogonadotropic Hypogonadism 1 with or Without Anosmia |
46 |
7.424 |
|
50 |
|
P
|
TTR001 |
Tetralogy of Fallot |
69 |
7.339 |
|
51 |
|
|
VCT001 |
Vacterl Association |
47 |
7.220 |
|
52 |
|
P
|
TRC072 |
Treacher Collins Syndrome 1 |
62 |
6.927 |
|
53 |
|
c
|
MCR241 |
Microphthalmia, Syndromic 3 |
55 |
6.927 |
|
54 |
|
c
|
VSC019 |
Vesicoureteral Reflux 1 |
57 |
6.927 |
|
55 |
|
P
|
FNG006 |
Feingold Syndrome 1 |
62 |
6.719 |
|
56 |
|
|
ESP029 |
Esophageal Atresia/tracheoesophageal Fistula |
34 |
6.719 |
|
57 |
|
P
|
OPT048 |
Opitz-Gbbb Syndrome |
49 |
6.719 |
|
58 |
|
P
|
STS008 |
Sotos Syndrome 1 |
60 |
6.719 |
|
59 |
|
|
PPL048 |
Papillorenal Syndrome |
58 |
6.719 |
|
60 |
|
P
|
TWN003 |
Townes-Brocks Syndrome |
55 |
6.719 |
|
61 |
|
c
|
ATS203 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
45 |
6.719 |
|
62 |
|
P
|
WRD001 |
Waardenburg's Syndrome |
60 |
6.719 |
|
63 |
|
P
|
CRN015 |
Cornelia De Lange Syndrome |
67 |
6.719 |
|
64 |
|
c
|
SPN364 |
Spinocerebellar Ataxia, X-Linked 3 |
38 |
6.217 |
|
65 |
|
c
|
SPN363 |
Spinocerebellar Ataxia, X-Linked 4 |
35 |
6.217 |
|
66 |
|
P
|
RTN008 |
Retinitis Pigmentosa |
80 |
6.217 |
|
67 |
|
c
|
HYP604 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
65 |
6.217 |
|
68 |
|
|
CHR222 |
Chromosome 1p36 Deletion Syndrome |
45 |
6.217 |
|
69 |
|
|
ANS023 |
Anus, Imperforate |
56 |
6.217 |
|
70 |
|
|
TCL025 |
T-Cell Immunodeficiency with Thymic Aplasia |
42 |
6.217 |
|
71 |
|
|
RSP023 |
Rasopathy |
53 |
6.217 |
|
72 |
|
|
PHY002 |
Physical Disorder |
41 |
6.217 |
|
73 |
|
P
|
ORF002 |
Orofacial Cleft |
43 |
6.217 |
|
74 |
|
|
MWT001 |
Mowat-Wilson Syndrome |
55 |
6.217 |
|
75 |
|
c
|
HYP304 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
61 |
6.217 |
|
76 |
|
P
|
ANR048 |
Aniridia 1 |
64 |
6.217 |
|
77 |
|
|
EST005 |
Esotropia |
43 |
6.217 |
|
78 |
|
P
|
BRN006 |
Branchiootorenal Syndrome |
50 |
6.217 |
|
79 |
|
|
NSD001 |
Nose Disease |
45 |
6.217 |
|
80 |
|
|
NSL022 |
Nasal Cavity Disease |
32 |
6.217 |
|
81 |
|
|
ATX031 |
Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus |
58 |
5.813 |
|
82 |
|
P
|
HYP535 |
Hypogonadotropic Hypogonadism 7 with or Without Anosmia |
57 |
5.612 |
|
83 |
|
|
ISL004 |
Isolated Gonadotropin-Releasing Hormone Deficiency |
25 |
5.476 |
|
84 |
|
|
CLF001 |
Cleft Lip |
53 |
5.368 |
|
85 |
|
|
AGN018 |
Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome |
57 |
4.355 |
|
86 |
|
|
CLF004 |
Cleft Lip/palate |
57 |
4.013 |
|
87 |
|
|
YMN001 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
66 |
3.703 |
|
88 |
|
c
|
ATS007 |
Autism Spectrum Disorder |
72 |
3.514 |
|
89 |
|
|
CLF027 |
Cleft Palate, Isolated |
64 |
3.320 |
|
90 |
|
c
|
HLP023 |
Holoprosencephaly 1 |
56 |
3.106 |
|
91 |
|
|
PNS014 |
Penis Agenesis |
36 |
2.963 |
|
92 |
|
P
|
CRB045 |
Cerebellar Hypoplasia |
40 |
2.934 |
|
93 |
|
|
GLB002 |
Glioblastoma |
67 |
2.909 |
|
94 |
|
|
LYM027 |
Lymphopenia |
56 |
2.806 |
|
95 |
|
P
|
MYP004 |
Myopathy |
67 |
2.710 |
|
96 |
|
P
|
NRB001 |
Neuroblastoma |
66 |
2.671 |
|
97 |
|
P
|
PNC035 |
Pancreatic Cancer |
86 |
2.546 |
|
98 |
|
P
|
MDL005 |
Medulloblastoma |
75 |
2.535 |
|
99 |
|
c
|
DNR003 |
Duane Retraction Syndrome 1 |
37 |
2.449 |
|
100 |
|
|
RTN187 |
Retinitis Pigmentosa-Deafness Syndrome |
48 |
2.419 |
|
101 |
|
P
|
USH001 |
Usher Syndrome |
64 |
2.419 |
|
102 |
|
|
GST092 |
Gastroesophageal Reflux |
61 |
2.348 |
|
103 |
|
c
|
LKM061 |
Leukemia, Acute Myeloid |
83 |
2.348 |
|
104 |
|
P
|
SCL057 |
Scoliosis, Isolated 1 |
40 |
2.348 |
|
105 |
|
P
|
MYL006 |
Myeloid Leukemia |
61 |
2.348 |
|
106 |
|
P
|
HYP098 |
Hypereosinophilic Syndrome |
66 |
2.348 |
|
107 |
|
|
GRW007 |
Growth Hormone Deficiency |
46 |
2.274 |
|
108 |
|
|
SPN186 |
Spinal Cord Injury |
61 |
2.274 |
|
109 |
|
|
FRY006 |
Fryns Microphthalmia Syndrome |
52 |
2.274 |
|
110 |
|
|
PRP016 |
Paraplegia |
52 |
2.196 |
|
111 |
|
c
|
HRD010 |
Hereditary Spastic Paraplegia |
66 |
2.196 |
|
112 |
|
P
|
INF032 |
Infertility |
57 |
2.196 |
|
113 |
|
|
END057 |
Endometrial Cancer |
72 |
2.115 |
|
114 |
|
|
SVR004 |
Severe Combined Immunodeficiency |
72 |
2.115 |
|
115 |
|
|
ART030 |
Aortic Arch Interruption |
25 |
2.115 |
|
116 |
|
|
PNC041 |
Pancreatic Ductal Adenocarcinoma |
51 |
2.029 |
|
117 |
|
|
AZS001 |
Azoospermia |
45 |
2.029 |
|
118 |
|
c
|
CHD006 |
Chd2-Related Neurodevelopmental Disorders |
18 |
2.029 |
|
119 |
|
|
DYS073 |
Dysphagia |
53 |
2.029 |
|
120 |
|
P
|
LRY029 |
Laryngomalacia |
48 |
1.984 |
|
121 |
|
|
GRG001 |
Greig Cephalopolysyndactyly Syndrome |
64 |
1.937 |
|
122 |
|
|
CMB007 |
Combined Immunodeficiency |
57 |
1.937 |
|
123 |
|
P
|
HYP265 |
Hypotonia |
42 |
1.937 |
|
124 |
|
P
|
ATS364 |
Autism |
69 |
1.845 |
|
125 |
|
|
TRC109 |
Tracheoesophageal Fistula with or Without Esophageal Atresia |
54 |
1.839 |
|
126 |
|
P
|
MLN007 |
Male Infertility |
56 |
1.839 |
|
127 |
|
|
PTS001 |
Patau Syndrome |
56 |
1.839 |
|
128 |
|
c
|
PLY162 |
Polyposis Syndrome, Hereditary Mixed, 1 |
60 |
1.796 |
|
129 |
|
c
|
CLR087 |
Colorectal Cancer 12 |
34 |
1.796 |
|
130 |
|
|
GST103 |
Gastric Cancer, Hereditary Diffuse |
68 |
1.796 |
|
131 |
|
|
SML009 |
Small Intestine Adenocarcinoma |
57 |
1.796 |
|
132 |
|
|
EXP004 |
Exophthalmos |
51 |
1.732 |
|
133 |
|
|
SPP007 |
Suppression Amblyopia |
38 |
1.732 |
|
134 |
|
|
AMB002 |
Amblyopia |
50 |
1.732 |
|
135 |
|
c
|
SPR162 |
Spermatogenic Failure 50 |
42 |
1.732 |
|
136 |
|
|
TTN003 |
Tetanus |
65 |
1.732 |
|
137 |
|
|
OLG001 |
Oligospermia |
45 |
1.732 |
|
138 |
|
|
HMP009 |
Haemophilus Influenzae |
41 |
1.732 |
|
139 |
|
c
|
FNC032 |
Fanconi Anemia, Complementation Group B |
48 |
1.613 |
|
140 |
|
|
TRD008 |
Triiodothyronine Receptor Auxiliary Protein |
33 |
1.613 |
|
141 |
|
|
KRT006 |
Keratoconjunctivitis |
53 |
1.613 |
|
142 |
|
|
PST092 |
Posttransplant Acute Limbic Encephalitis |
28 |
1.613 |
|
143 |
|
|
AMN001 |
Amenorrhea |
54 |
1.613 |
|
144 |
|
|
KRT001 |
Keratoconjunctivitis Sicca |
50 |
1.613 |
|
145 |
|
|
AGN006 |
Agnathia-Microstomia-Synotia |
10 |
1.613 |
|
146 |
|
|
HRS011 |
Horseshoe Kidney |
31 |
1.613 |
|
147 |
|
|
ISL019 |
Isolated Duane Retraction Syndrome |
21 |
1.613 |
|
148 |
|
P
|
HYP083 |
Hypopituitarism |
52 |
1.587 |
|
149 |
|
|
MCH006 |
Mechanical Strabismus |
40 |
1.587 |
|
150 |
|
|
PTT001 |
Pituitary Hypoplasia |
34 |
1.505 |
|
151 |
|
c
|
RTN041 |
Retinitis Pigmentosa 11 |
42 |
1.479 |
|
152 |
|
P
|
HYP077 |
Hypertrichosis |
46 |
1.479 |
|
153 |
|
P
|
OTS001 |
Otosclerosis |
49 |
1.479 |
|
154 |
|
|
BLP006 |
Blepharoconjunctivitis |
33 |
1.479 |
|
155 |
|
|
PRM013 |
Premature Menopause |
58 |
1.339 |
|
156 |
|
|
SVR096 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
53 |
1.319 |
|
157 |
|
|
MRF001 |
Marfan Syndrome |
76 |
1.319 |
|
158 |
|
|
OTT002 |
Otitis Media |
71 |
1.319 |
|
159 |
|
|
SVR098 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
47 |
1.319 |
|
160 |
|
|
UMB002 |
Umbilical Hernia |
47 |
1.319 |
|
161 |
|
c
|
HRM006 |
Hermansky-Pudlak Syndrome 3 |
44 |
1.319 |
|
162 |
|
P
|
TRT019 |
Torticollis |
47 |
1.319 |
|
163 |
|
c
|
TRC092 |
Trichorhinophalangeal Syndrome, Type I |
54 |
1.319 |
|
164 |
|
P
|
ALP008 |
Alopecia |
54 |
1.319 |
|
165 |
|
|
MDD010 |
Middle Ear Disease |
46 |
1.319 |
|
166 |
|
|
CLB009 |
Coloboma of Iris |
25 |
1.319 |
|
167 |
|
|
SPT006 |
Septooptic Dysplasia |
62 |
1.229 |
|
168 |
|
|
ORF053 |
Orofacial Clefting Syndrome |
31 |
1.229 |
|
169 |
|
c
|
KLL008 |
Kallmann Syndrome 6 |
12 |
1.229 |
|
170 |
|
P
|
BRC006 |
Brachydactyly |
51 |
1.122 |
|
171 |
|
|
ADN018 |
Adenoma |
59 |
1.122 |
|
172 |
|
|
HYP056 |
Hypoglycemia |
65 |
1.122 |
|
173 |
|
|
RGH006 |
Right Aortic Arch |
29 |
1.003 |
|
174 |
|
|
ALL003 |
Allergic Rhinitis |
67 |
1.003 |
|
175 |
|
c
|
HYP552 |
Hypogonadotropic Hypogonadism 6 with or Without Anosmia |
28 |
1.003 |
|
176 |
|
c
|
HYP548 |
Hypogonadotropic Hypogonadism 2 with or Without Anosmia |
37 |
1.003 |
|
177 |
|
P
|
GST053 |
Gastric Cancer |
83 |
1.003 |
|
178 |
|
|
VTR016 |
Vater/vacterl Association |
49 |
1.003 |
|
179 |
|
|
DRG024 |
Drug Allergy |
40 |
1.003 |
|
180 |
|
|
GLL048 |
Glial Tumor |
52 |
1.003 |
|
181 |
|
|
FDL002 |
Food Allergy |
47 |
1.003 |
|
182 |
|
|
PLY012 |
Polyhydramnios |
46 |
1.003 |
|
183 |
|
|
FCL012 |
Facial Paralysis |
49 |
1.003 |
|
184 |
|
P
|
HYP040 |
Hypospadias |
51 |
1.003 |
|
185 |
|
P
|
RHN004 |
Rhinitis |
57 |
1.003 |
|
186 |
|
P
|
PTS002 |
Ptosis |
52 |
1.003 |
|
187 |
|
|
KRT008 |
Keratopathy |
46 |
1.003 |
|
188 |
|
|
ABR001 |
Aberrant Subclavian Artery |
22 |
1.003 |
|
189 |
|
|
GLM045 |
Glioma |
63 |
1.003 |
|
190 |
|
|
8Q1001 |
8q12 Microduplication Syndrome |
15 |
0.911 |
|
191 |
|
|
CRB159 |
Cerebral Visual Impairment |
34 |
0.869 |
|
192 |
|
|
WLD004 |
Wildervanck Syndrome |
28 |
0.869 |
|
193 |
|
P
|
SCH015 |
Schizophrenia |
74 |
0.869 |
|
194 |
|
|
LCR013 |
Lacrimal Duct Defect |
40 |
0.869 |
|
195 |
|
|
MND020 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
51 |
0.869 |
|
196 |
|
|
HYP748 |
Hypertelorism |
46 |
0.869 |
|
197 |
|
|
MCR103 |
Microtia |
44 |
0.869 |
|
198 |
|
P
|
PNT019 |
Pontocerebellar Hypoplasia |
46 |
0.869 |
|
199 |
|
|
BLP005 |
Blepharitis |
50 |
0.869 |
|
200 |
|
|
47X002 |
47,xyy |
48 |
0.869 |
|
201 |
|
|
DYS018 |
Dysostosis |
44 |
0.869 |
|
202 |
|
|
ASP007 |
Aspiration Pneumonia |
49 |
0.869 |
|
203 |
|
|
DRY001 |
Dry Eye Syndrome |
50 |
0.869 |
|
204 |
|
P
|
HYP050 |
Hyperinsulinemic Hypoglycemia |
57 |
0.869 |
|
205 |
|
|
HYP060 |
Hyperinsulinism |
54 |
0.869 |
|
206 |
|
|
CHR178 |
Chromosomal Triplication |
34 |
0.869 |
|
207 |
|
|
RHB011 |
Rhabdoid Tumor Predisposition Syndrome 2 |
28 |
0.803 |
|
208 |
|
|
VLV047 |
Volvulus of Midgut |
52 |
0.772 |
|
209 |
|
|
ABR009 |
Abruzzo-Erickson Syndrome |
45 |
0.772 |
|
210 |
|
|
LWC002 |
Lowe Oculocerebrorenal Syndrome |
68 |
0.772 |
|
211 |
|
|
ADL002 |
Adult Syndrome |
70 |
0.772 |
|
212 |
|
|
IST006 |
Isotretinoin Syndrome |
20 |
0.772 |
|
213 |
|
|
DMP001 |
Dumping Syndrome |
43 |
0.772 |
|
214 |
|
P
|
PRM011 |
Primary Ciliary Dyskinesia |
69 |
0.710 |
|
215 |
|
|
IMM154 |
Immunoglobulin a Deficiency 1 |
46 |
0.710 |
|
216 |
|
P
|
BRT053 |
Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness |
45 |
0.710 |
|
217 |
|
|
IMM167 |
Immune Deficiency Disease |
78 |
0.710 |
|
218 |
|
|
HYP257 |
Hypoparathyroidism, Sensorineural Deafness, and Renal Disease |
59 |
0.710 |
|
219 |
|
|
ADR042 |
Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency |
50 |
0.710 |
|
220 |
|
c
|
RTS003 |
Ritscher-Schinzel Syndrome 1 |
43 |
0.710 |
|
221 |
|
|
ERM002 |
Ear Malformation |
36 |
0.710 |
|
222 |
|
|
IMM068 |
Immunodeficiency 8 |
31 |
0.710 |
|
223 |
|
P
|
MSC003 |
Muscular Atrophy |
52 |
0.710 |
|
224 |
|
P
|
TRN016 |
Transient Hypogammaglobulinemia |
32 |
0.710 |
|
225 |
|
c
|
DLT002 |
Dilated Cardiomyopathy |
78 |
0.710 |
|
226 |
|
P
|
AGM001 |
Agammaglobulinemia |
68 |
0.710 |
|
227 |
|
|
HYD002 |
Hydronephrosis |
58 |
0.710 |
|
228 |
|
P
|
RTS001 |
Ritscher-Schinzel Syndrome |
33 |
0.710 |
|
229 |
|
P
|
PLY011 |
Polycystic Ovary Syndrome |
57 |
0.710 |
|
230 |
|
|
PTT009 |
Pituitary Gland Disease |
53 |
0.710 |
|
231 |
|
P
|
ADL010 |
Adult Respiratory Distress Syndrome |
71 |
0.710 |
|
232 |
|
|
NRN004 |
Neuroendocrine Tumor |
59 |
0.710 |
|
233 |
|
|
MND005 |
Mondini Dysplasia |
17 |
0.710 |
|
234 |
|
P
|
PRC019 |
Precocious Puberty |
47 |
0.710 |
|
235 |
|
c
|
CNT075 |
Central Precocious Puberty |
53 |
0.710 |
|
236 |
|
c
|
BRT024 |
Bartter Syndrome Type 4 |
25 |
0.710 |
|
237 |
|
c
|
KLL006 |
Kallmann Syndrome 4 |
12 |
0.710 |
|
238 |
|
|
CLN015 |
Colon Adenocarcinoma |
65 |
0.656 |
|
239 |
|
|
BRS099 |
Breast Ductal Carcinoma |
61 |
0.656 |
|
240 |
|
P
|
PLY006 |
Polydactyly |
59 |
0.610 |
|
241 |
|
P
|
DBT009 |
Diabetes Mellitus |
67 |
0.610 |
|
242 |
|
P
|
BRS047 |
Breast Cancer |
98 |
0.517 |
|
243 |
|
P
|
CLR023 |
Colorectal Cancer |
100 |
0.517 |
|
244 |
|
|
CLL010 |
Cellular Ependymoma |
57 |
0.517 |
|
245 |
|
P
|
LNG032 |
Lung Cancer |
98 |
0.502 |
|
246 |
|
c
|
WLF013 |
Wolfram Syndrome 1 |
60 |
0.502 |
|
247 |
|
|
FML304 |
Familial Isolated Dilated Cardiomyopathy |
49 |
0.502 |
|
248 |
|
P
|
SYN140 |
Syndrome with 46,xy Disorder of Sex Development |
20 |
0.502 |
|
249 |
|
|
MTB016 |
Metabolic Myopathy |
30 |
0.502 |
|
250 |
|
|
MLT173 |
Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability |
20 |
0.502 |
|
251 |
|
P
|
BLD134 |
Bladder Cancer |
79 |
0.502 |
|
252 |
|
c
|
ORF037 |
Orofaciodigital Syndrome I |
59 |
0.502 |
|
253 |
|
c
|
OTP006 |
Otopalatodigital Syndrome, Type I |
60 |
0.502 |
|
254 |
|
c
|
MSC169 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
61 |
0.502 |
|
255 |
|
|
AND002 |
Androgen Insensitivity Syndrome |
63 |
0.502 |
|
256 |
|
P
|
FRG001 |
Fragile X Syndrome |
70 |
0.502 |
|
257 |
|
|
FCL009 |
Focal Dermal Hypoplasia |
64 |
0.502 |
|
258 |
|
|
BRT054 |
Brittle Bone Disorder |
74 |
0.502 |
|
259 |
|
|
OVR029 |
Ovarian Hyperstimulation Syndrome |
63 |
0.502 |
|
260 |
|
|
HMF006 |
Hemifacial Microsomia |
55 |
0.502 |
|
261 |
|
P
|
MRR011 |
Mirror Movements 1 |
50 |
0.502 |
|
262 |
|
P
|
ALG028 |
Alagille Syndrome 1 |
73 |
0.502 |
|
263 |
|
c
|
CRN139 |
Cornelia De Lange Syndrome 1 |
61 |
0.502 |
|
264 |
|
P
|
MLT020 |
Multiple Sclerosis |
79 |
0.502 |
|
265 |
|
c
|
AMY091 |
Amyotrophic Lateral Sclerosis 1 |
88 |
0.502 |
|
266 |
|
|
SYR010 |
Syringomyelia, Noncommunicating Isolated |
36 |
0.502 |
|
267 |
|
P
|
OTF004 |
Otofaciocervical Syndrome 1 |
41 |
0.502 |
|
268 |
|
c
|
CHR579 |
Chiari Malformation Type Ii |
44 |
0.502 |
|
269 |
|
|
HYD038 |
Hydrops Fetalis, Nonimmune |
59 |
0.502 |
|
270 |
|
P
|
LYS001 |
Loeys-Dietz Syndrome |
65 |
0.502 |
|
271 |
|
c
|
MJR022 |
Major Affective Disorder 8 |
38 |
0.502 |
|
272 |
|
|
TTH002 |
Tooth Agenesis |
61 |
0.502 |
|
273 |
|
c
|
46X055 |
46,xy Sex Reversal 3 |
40 |
0.502 |
|
274 |
|
|
PRT251 |
Proteinuria, Chronic Benign |
57 |
0.502 |
|
275 |
|
|
HMN047 |
Human Cytomegalovirus Infection |
57 |
0.502 |
|
276 |
|
P
|
CTN015 |
Cutaneous T Cell Lymphoma |
48 |
0.502 |
|
277 |
|
P
|
LYM033 |
Lymphoproliferative Syndrome |
59 |
0.502 |
|
278 |
|
|
NKC002 |
Nk Cell Deficiency |
31 |
0.502 |
|
279 |
|
P
|
MYF003 |
Myofibrillar Myopathy |
49 |
0.502 |
|
280 |
|
c
|
FNC043 |
Fanconi Anemia, Complementation Group E |
62 |
0.502 |
|
281 |
|
P
|
JRV004 |
Jervell and Lange-Nielsen Syndrome 1 |
56 |
0.502 |
|
282 |
|
P
|
FNC044 |
Fanconi Anemia, Complementation Group C |
56 |
0.502 |
|
283 |
|
c
|
FNC042 |
Fanconi Anemia, Complementation Group D2 |
54 |
0.502 |
|
284 |
|
|
HYP212 |
Hypomandibular Faciocranial Dysostosis |
23 |
0.502 |
|
285 |
|
P
|
BDY004 |
Body Mass Index Quantitative Trait Locus 11 |
83 |
0.502 |
|
286 |
|
P
|
3MT016 |
3-Methylglutaconic Aciduria, Type Iii |
68 |
0.502 |
|
287 |
|
c
|
CHR320 |
Chiari Malformation Type I |
46 |
0.502 |
|
288 |
|
P
|
PRD006 |
Prader-Willi Syndrome |
61 |
0.502 |
|
289 |
|
|
BSM002 |
Bosma Arhinia Microphthalmia Syndrome |
44 |
0.502 |
|
290 |
|
|
PHL006 |
Phelan-Mcdermid Syndrome |
60 |
0.502 |
|
291 |
|
|
AST006 |
Astigmatism |
47 |
0.502 |
|
292 |
|
|
HRT030 |
Hartsfield Syndrome |
46 |
0.502 |
|
293 |
|
c
|
MJR024 |
Major Affective Disorder 9 |
41 |
0.502 |
|
294 |
|
c
|
MSC165 |
Muscular Dystrophy, Congenital, Lmna-Related |
65 |
0.502 |
|
295 |
|
c
|
FML117 |
Familial Cold Autoinflammatory Syndrome 2 |
41 |
0.502 |
|
296 |
|
|
CHR385 |
Chromosome 2q31.2 Deletion Syndrome |
10 |
0.502 |
|
297 |
|
|
CHR593 |
Chromosome 16p13.3 Deletion Syndrome, Proximal |
68 |
0.502 |
|
298 |
|
|
HYP780 |
Hypoadrenocorticism, Familial |
61 |
0.502 |
|
299 |
|
|
BTT016 |
Batten-Turner Congenital Myopathy |
53 |
0.502 |
|
300 |
|
|
PTT046 |
Pituitary Hormone Deficiency, Combined, 2 |
62 |
0.502 |
|
301 |
|
|
CHR619 |
Chromosome 2q35 Duplication Syndrome |
64 |
0.502 |
|
302 |
|
|
PLM070 |
Pulmonic Stenosis |
49 |
0.502 |
|
303 |
|
c
|
SML038 |
Small Cell Cancer of the Lung |
69 |
0.502 |
|
304 |
|
c
|
HYP836 |
Hypercholesterolemia, Familial, 1 |
73 |
0.502 |
|
305 |
|
|
CMR002 |
Coumarin Resistance |
59 |
0.502 |
|
306 |
|
P
|
MYP087 |
Myopathy, Tubular Aggregate, 1 |
49 |
0.502 |
|
307 |
|
|
ACH004 |
Achondroplasia |
66 |
0.502 |
|
308 |
|
|
DNR002 |
Duane-Radial Ray Syndrome |
54 |
0.502 |
|
309 |
|
|
NRD024 |
Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart |
32 |
0.502 |
|
310 |
|
|
GST019 |
Gastrointestinal Stromal Tumor |
78 |
0.502 |
|
311 |
|
|
ATN021 |
Autoinflammatory Syndrome |
32 |
0.502 |
|
312 |
|
P
|
FML052 |
Familial Cold Autoinflammatory Syndrome |
59 |
0.502 |
|
313 |
|
P
|
VNW001 |
Von Willebrand's Disease |
65 |
0.502 |
|
314 |
|
P
|
HLP001 |
Holoprosencephaly |
69 |
0.502 |
|
315 |
|
P
|
MSC005 |
Muscular Dystrophy |
67 |
0.502 |
|
316 |
|
|
IDP034 |
Idiopathic Central Precocious Puberty |
27 |
0.502 |
|
317 |
|
P
|
EPL164 |
Epilepsy |
68 |
0.502 |
|
318 |
|
P
|
BPL003 |
Bipolar Disorder |
56 |
0.502 |
|
319 |
|
P
|
CNG001 |
Congenital Myasthenic Syndrome |
68 |
0.502 |
|
320 |
|
|
NRM005 |
Neuromuscular Disease |
63 |
0.502 |
|
321 |
|
P
|
CTR002 |
Cataract |
60 |
0.502 |
|
322 |
|
|
HLX001 |
Helix Syndrome |
48 |
0.502 |
|
323 |
|
c
|
MNT334 |
Mental Retardation, Autosomal Dominant 57 |
27 |
0.502 |
|
324 |
|
P
|
GRF003 |
Graft-Versus-Host Disease |
71 |
0.502 |
|
325 |
|
|
ANS004 |
Anisometropia |
31 |
0.502 |
|
326 |
|
P
|
FCL005 |
Focal Segmental Glomerulosclerosis |
57 |
0.502 |
|
327 |
|
P
|
LTR001 |
Lateral Sclerosis |
58 |
0.502 |
|
328 |
|
|
BRX001 |
Bruxism |
51 |
0.502 |
|
329 |
|
P
|
DMN001 |
Diamond-Blackfan Anemia |
71 |
0.502 |
|
330 |
|
P
|
MLN008 |
Melanoma |
76 |
0.502 |
|
331 |
|
|
THR004 |
Thrombocytosis |
53 |
0.502 |
|
332 |
|
|
GLC009 |
Glucosephosphate Dehydrogenase Deficiency |
53 |
0.502 |
|
333 |
|
P
|
END044 |
Endometriosis |
62 |
0.502 |
|
334 |
|
|
ALT003 |
Alternating Exotropia |
33 |
0.502 |
|
335 |
|
P
|
HYD006 |
Hydrocephalus |
61 |
0.502 |
|
336 |
|
P
|
MNN007 |
Meningocele |
39 |
0.502 |
|
337 |
|
|
TCL003 |
T Cell Deficiency |
44 |
0.502 |
|
338 |
|
|
EXT022 |
Exotropia |
42 |
0.502 |
|
339 |
|
|
THY020 |
Thyroid Hyalinizing Trabecular Adenoma |
20 |
0.502 |
|
340 |
|
P
|
TRT010 |
Teratoma |
51 |
0.502 |
|
341 |
|
P
|
SYR001 |
Syringomyelia |
47 |
0.502 |
|
342 |
|
|
MSN004 |
Mesenchymal Cell Neoplasm |
42 |
0.502 |
|
343 |
|
P
|
THR015 |
Thrombophilia |
51 |
0.502 |
|
344 |
|
c
|
FML021 |
Familial Hypercholesterolemia |
72 |
0.502 |
|
345 |
|
c
|
CNG513 |
Congenital Ptosis |
42 |
0.502 |
|
346 |
|
|
ISL001 |
Islet Cell Tumor |
56 |
0.502 |
|
347 |
|
P
|
DSR090 |
Disorder of Sexual Development |
44 |
0.502 |
|
348 |
|
P
|
LMB006 |
Limb-Girdle Muscular Dystrophy |
52 |
0.502 |
|
349 |
|
|
PLM033 |
Pulmonary Embolism |
58 |
0.502 |
|
350 |
|
|
STX004 |
Stxbp1 Encephalopathy with Epilepsy |
15 |
0.502 |
|
351 |
|
|
HYD005 |
Hydrocele |
46 |
0.502 |
|
352 |
|
c
|
PSD047 |
Pseudo-Turner Syndrome |
52 |
0.502 |
|
353 |
|
|
RRR001 |
Rere-Related Disorders |
12 |
0.502 |
|
354 |
|
|
SLL004 |
Sall4-Related Disorders |
10 |
0.502 |
|
355 |
|
|
SX2004 |
Sox2 Disorder |
13 |
0.502 |
|
356 |
|
P
|
SCK005 |
Sickle Cell Disease |
56 |
0.502 |
|
357 |
|
|
PRS063 |
Paresthesia |
39 |
0.502 |
|
358 |
|
|
SPC022 |
Specific Antibody Deficiency |
25 |
0.502 |
|
359 |
|
|
CNG069 |
Congenital Cytomegalovirus |
51 |
0.502 |
|
360 |
|
P
|
ADT009 |
Auditory Neuropathy Spectrum Disorder |
34 |
0.502 |
|
361 |
|
|
CNG608 |
Congenital Hypopituitarism |
29 |
0.502 |
|
362 |
|
P
|
HYD015 |
Hydroa Vacciniforme |
22 |
0.502 |
|
363 |
|
P
|
CHR342 |
Chiari Malformation |
41 |
0.502 |
|
364 |
|
|
CRN051 |
Craniofacial Microsomia |
28 |
0.502 |
|
365 |
|
P
|
ENC008 |
Encephalocele |
46 |
0.502 |
|
366 |
|
|
MSC020 |
Mosaic Trisomy 8 |
32 |
0.502 |
|