# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
P
|
ANR048 |
Aniridia 1 |
63 |
6.114 |
|
2 |
|
|
KRT019 |
Keratitis, Hereditary |
65 |
4.756 |
|
3 |
|
P
|
FVL006 |
Foveal Hypoplasia 1 |
30 |
4.307 |
|
4 |
|
|
PTR032 |
Peters-Plus Syndrome |
63 |
4.260 |
|
5 |
|
|
CLB003 |
Coloboma of Optic Nerve |
42 |
4.217 |
|
6 |
|
c
|
ANT085 |
Anterior Segment Dysgenesis 5 |
36 |
3.966 |
|
7 |
|
|
WLM014 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome |
52 |
3.944 |
|
8 |
|
|
OPT070 |
Optic Nerve Hypoplasia, Bilateral |
56 |
3.649 |
|
9 |
|
P
|
CLB034 |
Coloboma, Ocular, Autosomal Dominant |
47 |
3.505 |
|
10 |
|
|
MCR013 |
Microphthalmia |
57 |
3.423 |
|
11 |
|
P
|
CTR002 |
Cataract |
60 |
3.225 |
|
12 |
|
|
ISL011 |
Isolated Aniridia |
31 |
2.962 |
|
13 |
|
|
GLL028 |
Gillespie Syndrome |
53 |
2.949 |
|
14 |
|
|
CLB010 |
Coloboma of Macula |
52 |
2.847 |
|
15 |
|
P
|
ANT088 |
Anterior Segment Dysgenesis |
52 |
2.633 |
|
16 |
|
P
|
MYP006 |
Myopia |
55 |
2.484 |
|
17 |
|
P
|
CNG024 |
Congenital Nystagmus |
36 |
2.368 |
|
18 |
|
P
|
MCR010 |
Microcephaly |
59 |
2.297 |
|
19 |
|
|
GLC003 |
Glucose Intolerance |
54 |
2.297 |
|
20 |
|
P
|
CRN025 |
Corneal Dystrophy |
49 |
2.297 |
|
21 |
|
|
PTH003 |
Pathologic Nystagmus |
52 |
2.244 |
|
22 |
|
P
|
MDL005 |
Medulloblastoma |
77 |
2.241 |
|
23 |
|
|
CLB026 |
Colobomatous Microphthalmia |
47 |
2.233 |
|
24 |
|
P
|
SCH015 |
Schizophrenia |
74 |
2.218 |
|
25 |
|
|
KRT008 |
Keratopathy |
47 |
2.095 |
|
26 |
|
|
EYD002 |
Eye Disease |
58 |
2.046 |
|
27 |
|
P
|
PTS002 |
Ptosis |
53 |
1.989 |
|
28 |
|
c
|
ANR047 |
Aniridia 2 |
25 |
1.918 |
|
29 |
|
P
|
HYP083 |
Hypopituitarism |
53 |
1.882 |
|
30 |
|
c
|
AXN010 |
Axenfeld-Rieger Syndrome, Type 3 |
49 |
1.882 |
|
31 |
|
P
|
AXN002 |
Axenfeld-Rieger Syndrome |
59 |
1.862 |
|
32 |
|
|
HYP748 |
Hypertelorism |
50 |
1.862 |
|
33 |
|
P
|
ECT005 |
Ectropion |
42 |
1.862 |
|
34 |
|
c
|
CNG513 |
Congenital Ptosis |
42 |
1.862 |
|
35 |
|
c
|
MCL042 |
Macular Degeneration, Age-Related, 1 |
85 |
1.838 |
|
36 |
|
|
NRL016 |
Neural Tube Defects |
82 |
1.838 |
|
37 |
|
|
INT323 |
Intraocular Pressure Quantitative Trait Locus |
62 |
1.838 |
|
38 |
|
|
RTN017 |
Retinal Detachment |
61 |
1.838 |
|
39 |
|
c
|
GLC097 |
Glaucoma 3, Primary Congenital, a |
58 |
1.838 |
|
40 |
|
|
ISL003 |
Isolated Growth Hormone Deficiency |
49 |
1.838 |
|
41 |
|
|
INT060 |
Intestinal Atresia |
40 |
1.838 |
|
42 |
|
P
|
RTN008 |
Retinitis Pigmentosa |
79 |
1.811 |
|
43 |
|
P
|
MTR004 |
Maturity-Onset Diabetes of the Young |
65 |
1.811 |
|
44 |
|
P
|
WRD001 |
Waardenburg's Syndrome |
59 |
1.811 |
|
45 |
|
P
|
RTN018 |
Retinal Disease |
53 |
1.811 |
|
46 |
|
P
|
SYN165 |
Syndromic Microphthalmia |
35 |
1.811 |
|
47 |
|
|
LRG003 |
Large Cell Medulloblastoma |
30 |
1.811 |
|
48 |
|
c
|
PX6002 |
Pax6-Related Aniridia |
24 |
1.757 |
|
49 |
|
|
FRY006 |
Fryns Microphthalmia Syndrome |
52 |
1.653 |
|
50 |
|
c
|
WLM018 |
Wilms Tumor 5 |
61 |
1.552 |
|
51 |
|
|
ABL002 |
Ablepharon-Macrostomia Syndrome |
53 |
1.519 |
|
52 |
|
P
|
STR020 |
Strabismus |
55 |
1.406 |
|
53 |
|
|
CLB009 |
Coloboma of Iris |
28 |
1.406 |
|
54 |
|
P
|
CRN024 |
Corneal Disease |
44 |
1.388 |
|
55 |
|
|
ISL131 |
Isolated Foveal Hypoplasia |
12 |
1.388 |
|
56 |
|
|
BNG009 |
Benign Epilepsy with Centrotemporal Spikes |
58 |
1.367 |
|
57 |
|
P
|
PRS062 |
Persistent Hyperplastic Primary Vitreous |
44 |
1.344 |
|
58 |
|
P
|
SCL047 |
Sclerocornea |
32 |
1.344 |
|
59 |
|
P
|
HLP001 |
Holoprosencephaly |
67 |
1.316 |
|
60 |
|
|
PPL048 |
Papillorenal Syndrome |
58 |
1.316 |
|
61 |
|
|
AMB002 |
Amblyopia |
49 |
1.316 |
|
62 |
|
P
|
JVN008 |
Juvenile Glaucoma |
47 |
1.316 |
|
63 |
|
c
|
PRM032 |
Primary Congenital Glaucoma |
41 |
1.316 |
|
64 |
|
|
EXT022 |
Exotropia |
41 |
1.316 |
|
65 |
|
|
CLB018 |
Coloboma of Eyelid |
16 |
1.316 |
|
66 |
|
|
CLB008 |
Coloboma of Eye Lens |
15 |
1.316 |
|
67 |
|
|
ARR002 |
Arrhinia |
12 |
1.316 |
|
68 |
|
|
CHR103 |
Charge Syndrome |
67 |
1.280 |
|
69 |
|
|
LBR036 |
Leber Plus Disease |
66 |
1.280 |
|
70 |
|
c
|
WLM013 |
Wilms Tumor 1 |
65 |
1.280 |
|
71 |
|
|
SPT006 |
Septooptic Dysplasia |
64 |
1.280 |
|
72 |
|
P
|
ACH003 |
Achromatopsia |
61 |
1.280 |
|
73 |
|
P
|
PRV006 |
Pervasive Developmental Disorder |
57 |
1.280 |
|
74 |
|
|
FND002 |
Fundus Dystrophy |
55 |
1.280 |
|
75 |
|
P
|
PRV002 |
Periventricular Nodular Heterotopia |
52 |
1.280 |
|
76 |
|
c
|
AXN009 |
Axenfeld-Rieger Syndrome, Type 1 |
49 |
1.280 |
|
77 |
|
c
|
PRM031 |
Primary Autosomal Recessive Microcephaly |
47 |
1.280 |
|
78 |
|
|
DPM001 |
Dopamine Beta-Hydroxylase Deficiency |
47 |
1.280 |
|
79 |
|
P
|
ORF002 |
Orofacial Cleft |
44 |
1.280 |
|
80 |
|
c
|
MCR137 |
Microphthalmia, Isolated 2 |
44 |
1.280 |
|
81 |
|
c
|
PNT039 |
Pontocerebellar Hypoplasia, Type 7 |
43 |
1.280 |
|
82 |
|
|
PHY002 |
Physical Disorder |
42 |
1.280 |
|
83 |
|
|
EST005 |
Esotropia |
42 |
1.280 |
|
84 |
|
c
|
MCR114 |
Microphthalmia, Isolated 3 |
42 |
1.280 |
|
85 |
|
|
OCL011 |
Ocular Motility Disease |
42 |
1.280 |
|
86 |
|
|
EYL005 |
Eyelid Disease |
40 |
1.280 |
|
87 |
|
|
VTR005 |
Vitreous Disease |
39 |
1.280 |
|
88 |
|
|
LNS001 |
Lens Subluxation |
38 |
1.280 |
|
89 |
|
c
|
MCL041 |
Macular Degeneration, Age-Related, 7 |
37 |
1.280 |
|
90 |
|
P
|
NNP021 |
Nanophthalmos |
36 |
1.280 |
|
91 |
|
|
HYD007 |
Hydrophthalmos |
36 |
1.280 |
|
92 |
|
|
UVL010 |
Uveal Disease |
35 |
1.280 |
|
93 |
|
P
|
LNS003 |
Lens Disease |
34 |
1.280 |
|
94 |
|
|
PNG001 |
Pinguecula |
31 |
1.280 |
|
95 |
|
|
GRM001 |
Germ Cell and Embryonal Cancer |
29 |
1.280 |
|
96 |
|
|
IRS003 |
Iris Disease |
29 |
1.280 |
|
97 |
|
c
|
CHR565 |
Chromosomal Deletion Syndrome |
25 |
1.280 |
|
98 |
|
c
|
CNG031 |
Congenital Nervous System Abnormality |
24 |
1.280 |
|
99 |
|
|
EYD001 |
Eye Degenerative Disease |
24 |
1.280 |
|
100 |
|
|
CNG005 |
Congenital Aphakia |
23 |
1.280 |
|
101 |
|
|
CNJ010 |
Conjunctival Degeneration |
19 |
1.280 |
|
102 |
|
c
|
SPS229 |
Spastic Ataxia 8 |
19 |
1.280 |
|
103 |
|
|
DVL026 |
Developmental Defect of the Eye |
9 |
1.280 |
|
104 |
|
|
JNT004 |
Joint Laxity, Short Stature, and Myopia |
45 |
0.194 |
|
105 |
|
|
GLB015 |
Glioblastoma Multiforme |
75 |
0.163 |
|
106 |
|
P
|
RTN024 |
Retinoblastoma |
73 |
0.157 |
|
107 |
|
c
|
FML008 |
Familial Retinoblastoma |
53 |
0.157 |
|
108 |
|
P
|
GLM045 |
Glioma |
63 |
0.123 |
|
109 |
|
|
GLL048 |
Glial Tumor |
45 |
0.123 |
|
110 |
|
|
RFR003 |
Refractive Error |
43 |
0.115 |
|
111 |
|
P
|
LNG032 |
Lung Cancer |
98 |
0.097 |
|
112 |
|
P
|
GLM040 |
Glioma Susceptibility 1 |
81 |
0.097 |
|
113 |
|
c
|
SML038 |
Small Cell Cancer of the Lung |
65 |
0.097 |
|
114 |
|
P
|
ISL078 |
Isolated Ectopia Lentis |
56 |
0.097 |
|
115 |
|
P
|
AST007 |
Astrocytoma |
51 |
0.097 |
|
116 |
|
|
MCH006 |
Mechanical Strabismus |
42 |
0.097 |
|
117 |
|
P
|
ATS364 |
Autism |
70 |
0.087 |
|
118 |
|
|
YMN001 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
65 |
0.087 |
|
119 |
|
|
HYP066 |
Hyperglycemia |
61 |
0.087 |
|
120 |
|
|
INS001 |
Insulinoma |
60 |
0.087 |
|
121 |
|
|
LMB050 |
Limbal Stem Cell Deficiency |
51 |
0.087 |
|
122 |
|
|
HLX001 |
Helix Syndrome |
47 |
0.087 |
|
123 |
|
P
|
PNC035 |
Pancreatic Cancer |
84 |
0.075 |
|
124 |
|
P
|
MYL006 |
Myeloid Leukemia |
60 |
0.075 |
|
125 |
|
|
ABN011 |
Abnormal Hair, Joint Laxity, and Developmental Delay |
50 |
0.075 |
|
126 |
|
c
|
MLG068 |
Malignant Glioma |
46 |
0.075 |
|
127 |
|
|
ATX038 |
Ataxia and Polyneuropathy, Adult-Onset |
45 |
0.075 |
|
128 |
|
|
TTH030 |
Teeth, Supernumerary |
33 |
0.075 |
|
129 |
|
|
CTR027 |
Cataract-Glaucoma |
27 |
0.075 |
|
130 |
|
|
SX2001 |
Sox2-Related Eye Disorders |
14 |
0.075 |
|
131 |
|
P
|
LKM002 |
Leukemia |
68 |
0.061 |
|
132 |
|
|
PNC129 |
Pancreatic Adenocarcinoma |
68 |
0.061 |
|
133 |
|
c
|
ATS007 |
Autism Spectrum Disorder |
67 |
0.061 |
|
134 |
|
|
ALC028 |
Alacrima, Achalasia, and Mental Retardation Syndrome |
64 |
0.061 |
|
135 |
|
|
ATM095 |
Autoimmune Disease |
62 |
0.061 |
|
136 |
|
|
ALL026 |
Allergic Hypersensitivity Disease |
62 |
0.061 |
|
137 |
|
|
GST033 |
Gestational Diabetes |
61 |
0.061 |
|
138 |
|
|
VSL002 |
Visual Epilepsy |
59 |
0.061 |
|
139 |
|
P
|
SZR006 |
Seizure Disorder |
56 |
0.061 |
|
140 |
|
P
|
RTN016 |
Retinal Degeneration |
53 |
0.061 |
|
141 |
|
|
HYP080 |
Hypogonadism |
50 |
0.061 |
|
142 |
|
|
LRN003 |
Learning Disability |
49 |
0.061 |
|
143 |
|
c
|
DBT103 |
Diabetes Mellitus, Permanent Neonatal 4 |
46 |
0.061 |
|
144 |
|
|
CRB004 |
Cerebral Artery Occlusion |
45 |
0.061 |
|
145 |
|
|
VSL013 |
Visual Impairment and Progressive Phthisis Bulbi |
41 |
0.061 |
|
146 |
|
|
CHR178 |
Chromosomal Triplication |
35 |
0.061 |
|
147 |
|
|
PLY150 |
Polykaryocytosis Inducer |
31 |
0.061 |
|
148 |
|
c
|
MYP040 |
Myopia 7 |
20 |
0.061 |
|
149 |
|
|
ECT009 |
Ectopia Pupillae |
13 |
0.061 |
|
150 |
|
P
|
PRS040 |
Prostate Cancer |
97 |
0.043 |
|
151 |
|
P
|
BRS047 |
Breast Cancer |
97 |
0.043 |
|
152 |
|
P
|
ALZ034 |
Alzheimer Disease |
88 |
0.043 |
|
153 |
|
c
|
LKM061 |
Leukemia, Acute Myeloid |
84 |
0.043 |
|
154 |
|
P
|
GST053 |
Gastric Cancer |
83 |
0.043 |
|
155 |
|
P
|
BLD134 |
Bladder Cancer |
79 |
0.043 |
|
156 |
|
P
|
LNG064 |
Lung Cancer Susceptibility 3 |
78 |
0.043 |
|
157 |
|
c
|
NRF024 |
Neurofibromatosis, Type I |
77 |
0.043 |
|
158 |
|
|
LPT014 |
Leptin Deficiency or Dysfunction |
74 |
0.043 |
|
159 |
|
P
|
NRB001 |
Neuroblastoma |
72 |
0.043 |
|
160 |
|
P
|
EPL164 |
Epilepsy |
71 |
0.043 |
|
161 |
|
|
DWN001 |
Down Syndrome |
70 |
0.043 |
|
162 |
|
|
SVR097 |
Severe Cutaneous Adverse Reaction |
69 |
0.043 |
|
163 |
|
P
|
OLG002 |
Oligodendroglioma |
67 |
0.043 |
|
164 |
|
|
OST159 |
Osteogenic Sarcoma |
66 |
0.043 |
|
165 |
|
|
GRG001 |
Greig Cephalopolysyndactyly Syndrome |
66 |
0.043 |
|
166 |
|
P
|
HRS035 |
Hirschsprung Disease 1 |
65 |
0.043 |
|
167 |
|
P
|
DBT009 |
Diabetes Mellitus |
64 |
0.043 |
|
168 |
|
|
CLF027 |
Cleft Palate, Isolated |
64 |
0.043 |
|
169 |
|
P
|
ADN016 |
Adenocarcinoma |
64 |
0.043 |
|
170 |
|
P
|
CFF008 |
Coffin-Siris Syndrome 1 |
63 |
0.043 |
|
171 |
|
|
TRN015 |
Transient Cerebral Ischemia |
63 |
0.043 |
|
172 |
|
|
VTR013 |
Vitreoretinopathy, Neovascular Inflammatory |
62 |
0.043 |
|
173 |
|
|
ERL001 |
Early Myoclonic Encephalopathy |
62 |
0.043 |
|
174 |
|
|
DRR014 |
Darier-White Disease |
60 |
0.043 |
|
175 |
|
|
THY029 |
Thyroid Carcinoma |
59 |
0.043 |
|
176 |
|
P
|
SLP005 |
Sleep Disorder |
59 |
0.043 |
|
177 |
|
|
DCT002 |
Ductal Carcinoma in Situ |
59 |
0.043 |
|
178 |
|
|
GRD007 |
Grade Iii Astrocytoma |
59 |
0.043 |
|
179 |
|
|
ISC004 |
Ischemia |
58 |
0.043 |
|
180 |
|
P
|
ALC033 |
Alcohol Use Disorder |
58 |
0.043 |
|
181 |
|
|
ERY003 |
Erythema Multiforme |
58 |
0.043 |
|
182 |
|
P
|
PRP019 |
Peripheral Nervous System Disease |
58 |
0.043 |
|
183 |
|
P
|
FTL001 |
Fetal Alcohol Syndrome |
57 |
0.043 |
|
184 |
|
|
HYP266 |
Hypoxia |
57 |
0.043 |
|
185 |
|
P
|
FBR017 |
Fibrosarcoma |
56 |
0.043 |
|
186 |
|
P
|
PLY011 |
Polycystic Ovary Syndrome |
56 |
0.043 |
|
187 |
|
P
|
NRP001 |
Neuropathy |
56 |
0.043 |
|
188 |
|
P
|
NRF002 |
Neurofibromatosis |
56 |
0.043 |
|
189 |
|
|
EMB004 |
Embryonal Carcinoma |
56 |
0.043 |
|
190 |
|
c
|
THY109 |
Thyroid Cancer, Nonmedullary, 1 |
56 |
0.043 |
|
191 |
|
P
|
SCL048 |
Sclerosteosis |
55 |
0.043 |
|
192 |
|
|
HYP060 |
Hyperinsulinism |
54 |
0.043 |
|
193 |
|
|
MCL075 |
Macular Dystrophy, Corneal |
54 |
0.043 |
|
194 |
|
|
FCL014 |
Focal Epilepsy |
54 |
0.043 |
|
195 |
|
P
|
TRM003 |
Tremor |
54 |
0.043 |
|
196 |
|
P
|
INS002 |
in Situ Carcinoma |
53 |
0.043 |
|
197 |
|
|
KRT006 |
Keratoconjunctivitis |
53 |
0.043 |
|
198 |
|
|
CTS003 |
Coats Disease |
53 |
0.043 |
|
199 |
|
|
CLF001 |
Cleft Lip |
53 |
0.043 |
|
200 |
|
P
|
HYP730 |
Hypogonadotropic Hypogonadism |
52 |
0.043 |
|
201 |
|
P
|
NRC002 |
Narcolepsy |
52 |
0.043 |
|
202 |
|
P
|
TRT010 |
Teratoma |
52 |
0.043 |
|
203 |
|
|
TRM010 |
Traumatic Brain Injury |
51 |
0.043 |
|
204 |
|
P
|
OVR082 |
Overgrowth Syndrome |
50 |
0.043 |
|
205 |
|
P
|
NNT009 |
Neonatal Diabetes Mellitus |
50 |
0.043 |
|
206 |
|
|
VTR016 |
Vater/vacterl Association |
50 |
0.043 |
|
207 |
|
P
|
KRT007 |
Keratoconus |
50 |
0.043 |
|
208 |
|
|
TKL001 |
Tukel Syndrome |
50 |
0.043 |
|
209 |
|
|
KRT001 |
Keratoconjunctivitis Sicca |
49 |
0.043 |
|
210 |
|
|
PLY024 |
Polymicrogyria |
49 |
0.043 |
|
211 |
|
|
47X002 |
47,xyy |
49 |
0.043 |
|
212 |
|
|
BRN071 |
Brain Injury |
49 |
0.043 |
|
213 |
|
|
BNR002 |
Bone Resorption Disease |
48 |
0.043 |
|
214 |
|
c
|
ANT086 |
Anterior Segment Dysgenesis 2 |
48 |
0.043 |
|
215 |
|
P
|
CRN028 |
Corneal Ulcer |
47 |
0.043 |
|
216 |
|
|
CRN027 |
Corneal Neovascularization |
47 |
0.043 |
|
217 |
|
P
|
ENC008 |
Encephalocele |
47 |
0.043 |
|
218 |
|
P
|
VTR007 |
Vitreoretinopathy |
46 |
0.043 |
|
219 |
|
|
RTN020 |
Retinal Vascular Disease |
46 |
0.043 |
|
220 |
|
|
GRW007 |
Growth Hormone Deficiency |
46 |
0.043 |
|
221 |
|
|
SBP004 |
Subependymoma |
46 |
0.043 |
|
222 |
|
|
GLC036 |
Glucagonoma |
45 |
0.043 |
|
223 |
|
P
|
HYP265 |
Hypotonia |
43 |
0.043 |
|
224 |
|
|
VCT001 |
Vacterl Association |
42 |
0.043 |
|
225 |
|
|
PTC001 |
Potocki-Shaffer Syndrome |
42 |
0.043 |
|
226 |
|
|
SNL007 |
Senile Cataract |
42 |
0.043 |
|
227 |
|
|
TTT001 |
Tatton-Brown-Rahman Syndrome |
41 |
0.043 |
|
228 |
|
|
BSM002 |
Bosma Arhinia Microphthalmia Syndrome |
41 |
0.043 |
|
229 |
|
|
PLY183 |
Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome |
41 |
0.043 |
|
230 |
|
|
STR094 |
Stromme Syndrome |
41 |
0.043 |
|
231 |
|
|
SPP007 |
Suppression Amblyopia |
39 |
0.043 |
|
232 |
|
|
RPD005 |
Rapidly Involuting Congenital Hemangioma |
38 |
0.043 |
|
233 |
|
|
HMM004 |
Hamamy Syndrome |
37 |
0.043 |
|
234 |
|
|
NRT011 |
Neurotrophic Keratopathy |
37 |
0.043 |
|
235 |
|
|
SYS071 |
Systemic Autoimmune Disease |
37 |
0.043 |
|
236 |
|
|
CRN022 |
Corneal Degeneration |
36 |
0.043 |
|
237 |
|
|
ALC001 |
Alcohol-Related Birth Defect |
36 |
0.043 |
|
238 |
|
|
ANS004 |
Anisometropia |
35 |
0.043 |
|
239 |
|
|
ALT003 |
Alternating Exotropia |
34 |
0.043 |
|
240 |
|
|
TRD008 |
Triiodothyronine Receptor Auxiliary Protein |
34 |
0.043 |
|
241 |
|
|
FCL090 |
Facial Cleft |
34 |
0.043 |
|
242 |
|
|
XLN206 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
32 |
0.043 |
|
243 |
|
P
|
ACT028 |
Acute Closed-Angle Glaucoma |
30 |
0.043 |
|
244 |
|
|
ERY066 |
Erythema Multiforme Major |
30 |
0.043 |
|
245 |
|
|
ERY069 |
Erythrokeratoderma ''en Cocardes'' |
30 |
0.043 |
|
246 |
|
c
|
CNG608 |
Congenital Hypopituitarism |
30 |
0.043 |
|
247 |
|
|
PST092 |
Posttransplant Acute Limbic Encephalitis |
29 |
0.043 |
|
248 |
|
|
ARG004 |
Argyria |
27 |
0.043 |
|
249 |
|
|
UNL005 |
Unilateral Polymicrogyria |
27 |
0.043 |
|
250 |
|
c
|
BSL030 |
Basal Encephalocele |
26 |
0.043 |
|
251 |
|
|
WLM012 |
Wilms Tumor Predisposition |
24 |
0.043 |
|
252 |
|
|
1Q2003 |
1q21.1 Recurrent Microdeletion |
23 |
0.043 |
|
253 |
|
c
|
ANR046 |
Aniridia 3 |
19 |
0.043 |
|
254 |
|
c
|
MYP044 |
Myopia 10 |
18 |
0.043 |
|
255 |
|
c
|
MYP041 |
Myopia 8 |
17 |
0.043 |
|
256 |
|
|
WLM019 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome |
17 |
0.043 |
|
257 |
|
c
|
MYP048 |
Myopia 9 |
17 |
0.043 |
|
258 |
|
|
PX2001 |
Pax2-Related Disorder |
16 |
0.043 |
|
259 |
|
c
|
MYP143 |
Myopia 11, Autosomal Dominant |
15 |
0.043 |
|
260 |
|
|
FCS014 |
Fucosidase Regulator |
15 |
0.043 |
|
261 |
|
|
CHR186 |
Chromosome 11p Duplication |
10 |
0.043 |
|
262 |
|
|
SYN148 |
Syndromic Aniridia |
9 |
0.043 |
|