# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
LBS001 |
Lubs X-Linked Mental Retardation Syndrome |
51 |
16.149 |
|
2 |
|
P
|
ENC054 |
Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations |
30 |
14.830 |
|
3 |
|
P
|
RTT002 |
Rett Syndrome |
80 |
8.514 |
|
4 |
|
|
MCP054 |
Mecp2 Disorders |
17 |
7.190 |
|
5 |
|
c
|
MCP022 |
Mecp2-Related Severe Neonatal Encephalopathy |
13 |
5.120 |
|
6 |
|
P
|
MNT135 |
Mental Retardation, X-Linked, Syndromic 13 |
47 |
4.616 |
|
7 |
|
|
ALC028 |
Alacrima, Achalasia, and Mental Retardation Syndrome |
64 |
3.937 |
|
8 |
|
c
|
ATS367 |
Autism X-Linked 3 |
28 |
3.928 |
|
9 |
|
P
|
ANG001 |
Angelman Syndrome |
69 |
3.721 |
|
10 |
|
P
|
ATS364 |
Autism |
70 |
3.536 |
|
11 |
|
P
|
MCR010 |
Microcephaly |
59 |
3.353 |
|
12 |
|
P
|
ATT013 |
Attention Deficit-Hyperactivity Disorder |
65 |
3.149 |
|
13 |
|
P
|
EPL164 |
Epilepsy |
71 |
3.085 |
|
14 |
|
P
|
ENC018 |
Encephalopathy |
61 |
3.048 |
|
15 |
|
P
|
PRV006 |
Pervasive Developmental Disorder |
57 |
2.895 |
|
16 |
|
|
BRX001 |
Bruxism |
50 |
2.827 |
|
17 |
|
P
|
HYP265 |
Hypotonia |
43 |
2.796 |
|
18 |
|
P
|
SCH015 |
Schizophrenia |
74 |
2.787 |
|
19 |
|
c
|
SYS001 |
Systemic Lupus Erythematosus |
86 |
2.501 |
|
20 |
|
P
|
DYS154 |
Dystonia |
65 |
2.501 |
|
21 |
|
c
|
ATS007 |
Autism Spectrum Disorder |
67 |
2.482 |
|
22 |
|
|
DWN001 |
Down Syndrome |
70 |
2.433 |
|
23 |
|
P
|
FRG001 |
Fragile X Syndrome |
70 |
2.400 |
|
24 |
|
P
|
ASP001 |
Asperger Syndrome |
48 |
2.361 |
|
25 |
|
|
SPC010 |
Speech and Communication Disorders |
47 |
2.361 |
|
26 |
|
|
WST001 |
West Syndrome |
61 |
2.338 |
|
27 |
|
|
SPS057 |
Spasticity |
45 |
2.270 |
|
28 |
|
|
LRN003 |
Learning Disability |
49 |
2.087 |
|
29 |
|
P
|
SCL018 |
Scoliosis |
60 |
2.074 |
|
30 |
|
P
|
PRD006 |
Prader-Willi Syndrome |
59 |
2.032 |
|
31 |
|
P
|
SCK002 |
Sick Sinus Syndrome |
55 |
1.999 |
|
32 |
|
P
|
RSP003 |
Respiratory Failure |
74 |
1.980 |
|
33 |
|
|
GST092 |
Gastroesophageal Reflux |
67 |
1.980 |
|
34 |
|
|
FCL014 |
Focal Epilepsy |
54 |
1.980 |
|
35 |
|
|
ANX010 |
Anxiety |
73 |
1.960 |
|
36 |
|
|
HYP748 |
Hypertelorism |
50 |
1.960 |
|
37 |
|
|
NNS032 |
Non-Syndromic X-Linked Intellectual Disability |
43 |
1.960 |
|
38 |
|
P
|
MYP004 |
Myopathy |
70 |
1.909 |
|
39 |
|
P
|
GLL020 |
Gallbladder Disease |
57 |
1.909 |
|
40 |
|
P
|
BPL003 |
Bipolar Disorder |
56 |
1.909 |
|
41 |
|
|
SMT008 |
Smith-Magenis Syndrome |
54 |
1.909 |
|
42 |
|
|
KBG001 |
Kbg Syndrome |
53 |
1.909 |
|
43 |
|
P
|
HYP077 |
Hypertrichosis |
50 |
1.909 |
|
44 |
|
P
|
SYN064 |
Syndromic X-Linked Intellectual Disability |
25 |
1.909 |
|
45 |
|
c
|
INF065 |
Infantile Hypotonia |
24 |
1.622 |
|
46 |
|
|
VSL002 |
Visual Epilepsy |
59 |
1.600 |
|
47 |
|
|
ALP095 |
Alpha Thalassemia-X-Linked Intellectual Disability Syndrome |
45 |
1.437 |
|
48 |
|
c
|
FTL006 |
Fetal Alcohol Spectrum Disorder |
43 |
1.437 |
|
49 |
|
|
CNT097 |
Central Hypoventilation Syndrome, Congenital |
71 |
1.413 |
|
50 |
|
c
|
ALP101 |
Alpha-Thalassemia |
62 |
1.413 |
|
51 |
|
|
LRY029 |
Laryngomalacia |
47 |
1.413 |
|
52 |
|
|
FCL073 |
Facial Hypertrichosis |
15 |
1.413 |
|
53 |
|
P
|
PTT014 |
Pitt-Hopkins Syndrome |
63 |
1.386 |
|
54 |
|
|
LNN001 |
Lennox-Gastaut Syndrome |
57 |
1.386 |
|
55 |
|
|
MWT001 |
Mowat-Wilson Syndrome |
54 |
1.386 |
|
56 |
|
|
CHR174 |
Christianson Syndrome |
46 |
1.386 |
|
57 |
|
P
|
SYN057 |
Syndromic Intellectual Disability |
41 |
1.386 |
|
58 |
|
|
GTP001 |
Gait Apraxia |
31 |
1.386 |
|
59 |
|
c
|
ATS476 |
Autosomal Dominant Non-Syndromic Intellectual Disability 32 |
21 |
1.386 |
|
60 |
|
P
|
RTN008 |
Retinitis Pigmentosa |
79 |
1.350 |
|
61 |
|
c
|
EPL184 |
Epileptic Encephalopathy, Early Infantile, 6 |
70 |
1.350 |
|
62 |
|
|
CHR593 |
Chromosome 16p13.3 Deletion Syndrome, Proximal |
66 |
1.350 |
|
63 |
|
P
|
CRN015 |
Cornelia De Lange Syndrome |
64 |
1.350 |
|
64 |
|
P
|
ERL057 |
Early Infantile Epileptic Encephalopathy |
63 |
1.350 |
|
65 |
|
c
|
HYP794 |
Hyperoxaluria, Primary, Type I |
63 |
1.350 |
|
66 |
|
|
PHL006 |
Phelan-Mcdermid Syndrome |
62 |
1.350 |
|
67 |
|
P
|
PRM002 |
Primary Hyperoxaluria |
62 |
1.350 |
|
68 |
|
|
TMT001 |
Timothy Syndrome |
61 |
1.350 |
|
69 |
|
P
|
STS008 |
Sotos Syndrome 1 |
61 |
1.350 |
|
70 |
|
|
CFF002 |
Coffin-Lowry Syndrome |
60 |
1.350 |
|
71 |
|
c
|
OTP006 |
Otopalatodigital Syndrome, Type I |
60 |
1.350 |
|
72 |
|
|
BNG009 |
Benign Epilepsy with Centrotemporal Spikes |
58 |
1.350 |
|
73 |
|
|
DSS008 |
Disease of Mental Health |
58 |
1.350 |
|
74 |
|
|
IMM072 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
57 |
1.350 |
|
75 |
|
c
|
EPL097 |
Epileptic Encephalopathy, Early Infantile, 14 |
52 |
1.350 |
|
76 |
|
|
KGM001 |
Kagami-Ogata Syndrome |
51 |
1.350 |
|
77 |
|
|
MNN009 |
Meningoencephalitis |
49 |
1.350 |
|
78 |
|
c
|
PTT029 |
Pitt-Hopkins-Like Syndrome 1 |
49 |
1.350 |
|
79 |
|
|
PTC002 |
Potocki-Lupski Syndrome |
48 |
1.350 |
|
80 |
|
|
IMM011 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome |
47 |
1.350 |
|
81 |
|
c
|
PRM031 |
Primary Autosomal Recessive Microcephaly |
47 |
1.350 |
|
82 |
|
|
CHL012 |
Childhood Disintegrative Disease |
44 |
1.350 |
|
83 |
|
|
LND001 |
Landau-Kleffner Syndrome |
44 |
1.350 |
|
84 |
|
c
|
PNT039 |
Pontocerebellar Hypoplasia, Type 7 |
43 |
1.350 |
|
85 |
|
|
PHY002 |
Physical Disorder |
42 |
1.350 |
|
86 |
|
c
|
ENC057 |
Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 |
42 |
1.350 |
|
87 |
|
|
VLP002 |
Valproate Embryopathy |
41 |
1.350 |
|
88 |
|
c
|
EPL119 |
Epileptic Encephalopathy, Early Infantile, 17 |
41 |
1.350 |
|
89 |
|
P
|
MGL010 |
Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a |
40 |
1.350 |
|
90 |
|
c
|
EPL038 |
Epileptic Encephalopathy, Early Infantile, 8 |
38 |
1.350 |
|
91 |
|
c
|
ATS203 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
36 |
1.350 |
|
92 |
|
|
STR015 |
Stereotypic Movement Disorder |
34 |
1.350 |
|
93 |
|
|
ECH002 |
Echolalia |
34 |
1.350 |
|
94 |
|
|
SPC003 |
Specific Developmental Disorder |
31 |
1.350 |
|
95 |
|
|
ATY003 |
Atypical Autism |
31 |
1.350 |
|
96 |
|
P
|
CHR084 |
Chromosomal Disease |
30 |
1.350 |
|
97 |
|
|
ALC002 |
Alcohol-Related Neurodevelopmental Disorder |
30 |
1.350 |
|
98 |
|
P
|
ELC007 |
Electroclinical Syndrome |
30 |
1.350 |
|
99 |
|
c
|
CHR565 |
Chromosomal Deletion Syndrome |
25 |
1.350 |
|
100 |
|
c
|
CNG031 |
Congenital Nervous System Abnormality |
24 |
1.350 |
|
101 |
|
|
BNS002 |
Bone Structure Disease |
24 |
1.350 |
|
102 |
|
|
NNT041 |
Neonatal Period Electroclinical Syndrome |
23 |
1.350 |
|
103 |
|
c
|
INF033 |
Infancy Electroclinical Syndrome |
21 |
1.350 |
|
104 |
|
|
CHR569 |
Chromosomal Duplication Syndrome |
18 |
1.350 |
|
105 |
|
c
|
XLN230 |
X-Linked Monogenic Disease |
18 |
1.350 |
|
106 |
|
|
FLY001 |
Flying Phobia |
17 |
1.350 |
|
107 |
|
|
ATX038 |
Ataxia and Polyneuropathy, Adult-Onset |
45 |
0.195 |
|
108 |
|
P
|
SZR006 |
Seizure Disorder |
56 |
0.157 |
|
109 |
|
P
|
TRM003 |
Tremor |
54 |
0.144 |
|
110 |
|
P
|
LPS004 |
Lupus Erythematosus |
61 |
0.131 |
|
111 |
|
P
|
GST053 |
Gastric Cancer |
83 |
0.123 |
|
112 |
|
|
ATM095 |
Autoimmune Disease |
62 |
0.115 |
|
113 |
|
|
CNS004 |
Constipation |
58 |
0.115 |
|
114 |
|
|
ATN005 |
Autonomic Dysfunction |
46 |
0.107 |
|
115 |
|
P
|
NRB001 |
Neuroblastoma |
72 |
0.097 |
|
116 |
|
|
ALP042 |
Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity |
66 |
0.097 |
|
117 |
|
c
|
EPL025 |
Epileptic Encephalopathy, Early Infantile, 2 |
50 |
0.097 |
|
118 |
|
P
|
GLM045 |
Glioma |
63 |
0.087 |
|
119 |
|
|
47X002 |
47,xyy |
49 |
0.087 |
|
120 |
|
|
GLL048 |
Glial Tumor |
45 |
0.087 |
|
121 |
|
P
|
CHR345 |
Chronic Pain |
44 |
0.087 |
|
122 |
|
P
|
CLR023 |
Colorectal Cancer |
99 |
0.075 |
|
123 |
|
P
|
PLM036 |
Pulmonary Fibrosis |
65 |
0.075 |
|
124 |
|
|
HYP266 |
Hypoxia |
57 |
0.075 |
|
125 |
|
|
APR001 |
Apraxia |
52 |
0.075 |
|
126 |
|
P
|
EMR017 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
46 |
0.075 |
|
127 |
|
P
|
MYC033 |
Myoclonus |
46 |
0.075 |
|
128 |
|
P
|
ATS366 |
Autism X-Linked 2 |
42 |
0.075 |
|
129 |
|
|
SPS019 |
Spastic Paraparesis |
38 |
0.075 |
|
130 |
|
P
|
HPT023 |
Hepatocellular Carcinoma |
100 |
0.062 |
|
131 |
|
P
|
PRS040 |
Prostate Cancer |
97 |
0.062 |
|
132 |
|
P
|
BRS047 |
Breast Cancer |
97 |
0.062 |
|
133 |
|
P
|
ATX030 |
Ataxia-Telangiectasia |
82 |
0.062 |
|
134 |
|
P
|
RHM011 |
Rheumatoid Arthritis |
80 |
0.062 |
|
135 |
|
|
KPS004 |
Kaposi Sarcoma |
75 |
0.062 |
|
136 |
|
P
|
HRT032 |
Heart Disease |
75 |
0.062 |
|
137 |
|
|
CNG034 |
Congestive Heart Failure |
69 |
0.062 |
|
138 |
|
P
|
MJR001 |
Major Depressive Disorder |
68 |
0.062 |
|
139 |
|
|
ART001 |
Arterial Tortuosity Syndrome |
66 |
0.062 |
|
140 |
|
|
TTN003 |
Tetanus |
65 |
0.062 |
|
141 |
|
|
AND019 |
Andersen Cardiodysrhythmic Periodic Paralysis |
65 |
0.062 |
|
142 |
|
P
|
MVM001 |
Movement Disease |
63 |
0.062 |
|
143 |
|
|
DPR016 |
Depression |
63 |
0.062 |
|
144 |
|
c
|
SVR001 |
Severe Acute Respiratory Syndrome |
62 |
0.062 |
|
145 |
|
P
|
TRC086 |
Trichohepatoenteric Syndrome 1 |
62 |
0.062 |
|
146 |
|
P
|
CRB101 |
Cerebrooculofacioskeletal Syndrome 1 |
60 |
0.062 |
|
147 |
|
P
|
THL005 |
Thalassemia |
60 |
0.062 |
|
148 |
|
|
CRZ002 |
Crouzon Syndrome with Acanthosis Nigricans |
58 |
0.062 |
|
149 |
|
|
MNT002 |
Mental Depression |
58 |
0.062 |
|
|
151 |
|
P
|
FTL001 |
Fetal Alcohol Syndrome |
57 |
0.062 |
|
152 |
|
P
|
ART153 |
Arthrochalasia Ehlers-Danlos Syndrome |
55 |
0.062 |
|
153 |
|
P
|
ALP106 |
Alport Syndrome 1, X-Linked |
55 |
0.062 |
|
154 |
|
|
THR013 |
Thoracic Outlet Syndrome |
54 |
0.062 |
|
155 |
|
P
|
OVR082 |
Overgrowth Syndrome |
50 |
0.062 |
|
156 |
|
|
ABN011 |
Abnormal Hair, Joint Laxity, and Developmental Delay |
50 |
0.062 |
|
157 |
|
|
HYP080 |
Hypogonadism |
50 |
0.062 |
|
158 |
|
|
MCN001 |
Mucinous Adenocarcinoma |
49 |
0.062 |
|
159 |
|
|
BKR002 |
Baker-Gordon Syndrome |
49 |
0.062 |
|
160 |
|
c
|
HYD064 |
Hydrocephalus, Congenital, 1 |
48 |
0.062 |
|
161 |
|
|
HLX001 |
Helix Syndrome |
47 |
0.062 |
|
162 |
|
P
|
PRC019 |
Precocious Puberty |
46 |
0.062 |
|
163 |
|
|
CRB004 |
Cerebral Artery Occlusion |
45 |
0.062 |
|
164 |
|
|
APP009 |
Appendix Adenocarcinoma |
44 |
0.062 |
|
165 |
|
c
|
CHR682 |
Chronic Bilirubin Encephalopathy |
39 |
0.062 |
|
166 |
|
|
RPD005 |
Rapidly Involuting Congenital Hemangioma |
38 |
0.062 |
|
167 |
|
|
GLB021 |
Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies |
38 |
0.062 |
|
168 |
|
|
CHR178 |
Chromosomal Triplication |
35 |
0.062 |
|
169 |
|
c
|
FML272 |
Familial Sick Sinus Syndrome |
34 |
0.062 |
|
170 |
|
|
NRN002 |
Neuronitis |
32 |
0.062 |
|
171 |
|
|
PLY150 |
Polykaryocytosis Inducer |
31 |
0.062 |
|
172 |
|
|
MTY003 |
Mutyh Polyposis |
30 |
0.062 |
|
173 |
|
|
15Q008 |
15q Duplication Syndrome and Related Disorders |
9 |
0.062 |
|
174 |
|
c
|
AMY091 |
Amyotrophic Lateral Sclerosis 1 |
89 |
0.044 |
|
175 |
|
P
|
PNC035 |
Pancreatic Cancer |
84 |
0.044 |
|
176 |
|
c
|
FNC027 |
Fanconi Anemia, Complementation Group a |
81 |
0.044 |
|
177 |
|
|
INS024 |
Insulin-Like Growth Factor I |
79 |
0.044 |
|
178 |
|
P
|
MDL005 |
Medulloblastoma |
77 |
0.044 |
|
179 |
|
|
PLM134 |
Pulmonary Fibrosis, Idiopathic |
77 |
0.044 |
|
180 |
|
c
|
ATR087 |
Atrial Standstill 1 |
75 |
0.044 |
|
181 |
|
|
ADR007 |
Adrenoleukodystrophy |
75 |
0.044 |
|
182 |
|
|
BRN028 |
Brain Cancer |
74 |
0.044 |
|
183 |
|
|
END057 |
Endometrial Cancer |
74 |
0.044 |
|
184 |
|
c
|
SPN225 |
Spondyloarthropathy 1 |
73 |
0.044 |
|
185 |
|
P
|
RTN024 |
Retinoblastoma |
73 |
0.044 |
|
186 |
|
P
|
HNT016 |
Huntington Disease |
72 |
0.044 |
|
187 |
|
P
|
TBR001 |
Tuberous Sclerosis |
70 |
0.044 |
|
188 |
|
P
|
ART022 |
Arthritis |
69 |
0.044 |
|
189 |
|
P
|
SLP006 |
Sleep Apnea |
69 |
0.044 |
|
190 |
|
P
|
CRN037 |
Craniosynostosis |
68 |
0.044 |
|
191 |
|
|
OBS002 |
Obsessive-Compulsive Disorder |
68 |
0.044 |
|
192 |
|
|
RCK004 |
Rickets |
68 |
0.044 |
|
193 |
|
P
|
PLM037 |
Pulmonary Hypertension |
67 |
0.044 |
|
194 |
|
c
|
PRM196 |
Premature Ovarian Failure 1 |
67 |
0.044 |
|
195 |
|
|
ALP100 |
Alpha-Thalassemia/mental Retardation Syndrome, X-Linked |
66 |
0.044 |
|
196 |
|
|
OST159 |
Osteogenic Sarcoma |
66 |
0.044 |
|
197 |
|
|
GLL008 |
Gilles De La Tourette Syndrome |
66 |
0.044 |
|
198 |
|
P
|
MCR115 |
Microvascular Complications of Diabetes 5 |
66 |
0.044 |
|
199 |
|
c
|
MCR129 |
Microvascular Complications of Diabetes 1 |
66 |
0.044 |
|
200 |
|
|
AND002 |
Androgen Insensitivity Syndrome |
66 |
0.044 |
|
201 |
|
P
|
HYD006 |
Hydrocephalus |
66 |
0.044 |
|
202 |
|
|
LWC002 |
Lowe Oculocerebrorenal Syndrome |
65 |
0.044 |
|
203 |
|
|
YMN001 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
65 |
0.044 |
|
204 |
|
|
BRR014 |
Barrett Esophagus |
65 |
0.044 |
|
205 |
|
|
DGR001 |
Digeorge Syndrome |
64 |
0.044 |
|
206 |
|
P
|
ADN016 |
Adenocarcinoma |
64 |
0.044 |
|
207 |
|
P
|
RHB003 |
Rhabdomyosarcoma |
63 |
0.044 |
|
208 |
|
|
INC021 |
Incontinentia Pigmenti |
63 |
0.044 |
|
209 |
|
P
|
ANR048 |
Aniridia 1 |
63 |
0.044 |
|
210 |
|
|
WLK001 |
Walker-Warburg Syndrome |
63 |
0.044 |
|
211 |
|
|
ANR007 |
Anorexia Nervosa |
63 |
0.044 |
|
212 |
|
|
LPD008 |
Lipid Metabolism Disorder |
62 |
0.044 |
|
213 |
|
P
|
SPN046 |
Spinal Muscular Atrophy |
62 |
0.044 |
|
214 |
|
P
|
BCK002 |
Beckwith-Wiedemann Syndrome |
62 |
0.044 |
|
215 |
|
|
LVR012 |
Liver Cirrhosis |
62 |
0.044 |
|
216 |
|
|
NTR005 |
Nutritional Deficiency Disease |
62 |
0.044 |
|
217 |
|
|
FTT001 |
Fatty Liver Disease |
61 |
0.044 |
|
218 |
|
P
|
ENC004 |
Encephalitis |
61 |
0.044 |
|
219 |
|
P
|
SJG008 |
Sjogren Syndrome |
61 |
0.044 |
|
220 |
|
|
NPH091 |
Nephrolithiasis, Calcium Oxalate |
60 |
0.044 |
|
221 |
|
|
ACN002 |
Acanthosis Nigricans |
60 |
0.044 |
|
222 |
|
|
LNG099 |
Lung Disease |
60 |
0.044 |
|
223 |
|
|
SQM006 |
Squamous Cell Carcinoma |
60 |
0.044 |
|
224 |
|
P
|
FTT008 |
Fatty Liver Disease, Nonalcoholic 1 |
60 |
0.044 |
|
225 |
|
|
HYD002 |
Hydronephrosis |
60 |
0.044 |
|
226 |
|
P
|
AXN002 |
Axenfeld-Rieger Syndrome |
59 |
0.044 |
|
227 |
|
c
|
MSC047 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 1 |
59 |
0.044 |
|
228 |
|
P
|
BND020 |
Bone Disease |
59 |
0.044 |
|
229 |
|
c
|
HPT016 |
Hepatitis B |
59 |
0.044 |
|
230 |
|
P
|
SLP005 |
Sleep Disorder |
59 |
0.044 |
|
231 |
|
|
PRG009 |
Progressive Multifocal Leukoencephalopathy |
59 |
0.044 |
|
232 |
|
|
CRY035 |
Cryptorchidism, Unilateral or Bilateral |
58 |
0.044 |
|
233 |
|
|
RBS001 |
Rabies |
58 |
0.044 |
|
234 |
|
|
SCC001 |
Succinic Semialdehyde Dehydrogenase Deficiency |
58 |
0.044 |
|
235 |
|
|
CRB197 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to |
57 |
0.044 |
|
236 |
|
|
VSC002 |
Vascular Dementia |
57 |
0.044 |
|
237 |
|
c
|
LSS005 |
Lissencephaly 1 |
56 |
0.044 |
|
238 |
|
c
|
ESS001 |
Essential Tremor |
56 |
0.044 |
|
239 |
|
|
ERY051 |
Erythroleukemia, Familial |
56 |
0.044 |
|
240 |
|
|
HPT022 |
Hepatoblastoma |
56 |
0.044 |
|
241 |
|
|
NPH009 |
Nephrolithiasis |
55 |
0.044 |
|
242 |
|
P
|
DYS193 |
Dystonia 11, Myoclonic |
55 |
0.044 |
|
243 |
|
P
|
STR020 |
Strabismus |
55 |
0.044 |
|
244 |
|
|
PPL022 |
Papilloma |
54 |
0.044 |
|
245 |
|
c
|
HPT007 |
Hepatitis E |
53 |
0.044 |
|
246 |
|
c
|
FML008 |
Familial Retinoblastoma |
53 |
0.044 |
|
247 |
|
c
|
CNT035 |
Central Nervous System Disease |
52 |
0.044 |
|
248 |
|
|
CHR073 |
Choreatic Disease |
52 |
0.044 |
|
249 |
|
P
|
MSC003 |
Muscular Atrophy |
52 |
0.044 |
|
250 |
|
c
|
PRM108 |
Primary Progressive Multiple Sclerosis |
51 |
0.044 |
|
251 |
|
P
|
LSS002 |
Lissencephaly |
51 |
0.044 |
|
252 |
|
|
SZR026 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance |
51 |
0.044 |
|
253 |
|
|
ALP041 |
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome |
51 |
0.044 |
|
254 |
|
|
STM007 |
Stomatitis |
50 |
0.044 |
|
255 |
|
|
LNG015 |
Lingual-Facial-Buccal Dyskinesia |
50 |
0.044 |
|
256 |
|
|
PLY024 |
Polymicrogyria |
49 |
0.044 |
|
257 |
|
|
CCN002 |
Cocaine Abuse |
49 |
0.044 |
|
258 |
|
|
QDR001 |
Quadriplegia |
48 |
0.044 |
|
259 |
|
|
ATS010 |
Autosomal Recessive Disease |
48 |
0.044 |
|
260 |
|
|
ASP007 |
Aspiration Pneumonia |
48 |
0.044 |
|
261 |
|
|
MCR018 |
Microcytic Anemia |
47 |
0.044 |
|
262 |
|
|
IRN004 |
Iron-Refractory Iron Deficiency Anemia |
47 |
0.044 |
|
263 |
|
|
CHR607 |
Chorea, Childhood-Onset, with Psychomotor Retardation |
47 |
0.044 |
|
264 |
|
|
STR103 |
Streptococcus Pneumonia |
47 |
0.044 |
|
265 |
|
|
HYD005 |
Hydrocele |
46 |
0.044 |
|
266 |
|
|
SQM002 |
Squamous Cell Papilloma |
46 |
0.044 |
|
267 |
|
|
OPD001 |
Opioid Abuse |
46 |
0.044 |
|
268 |
|
|
SGN002 |
Signet Ring Cell Adenocarcinoma |
45 |
0.044 |
|
269 |
|
|
IMM003 |
Immunoglobulin Alpha Deficiency |
45 |
0.044 |
|
270 |
|
|
CRT015 |
Carotid Artery Occlusion |
45 |
0.044 |
|
271 |
|
c
|
ERL020 |
Early-Onset Schizophrenia |
44 |
0.044 |
|
272 |
|
c
|
PCH010 |
Pachyonychia Congenita 3 |
44 |
0.044 |
|
273 |
|
c
|
GZP005 |
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1 |
44 |
0.044 |
|
274 |
|
|
CRB027 |
Cerebellar Disease |
44 |
0.044 |
|
275 |
|
|
HPT082 |
Hepatic Adenomas, Familial |
44 |
0.044 |
|
276 |
|
|
ORL015 |
Oral Squamous Cell Carcinoma |
43 |
0.044 |
|
277 |
|
|
CYT002 |
Cytokine Deficiency |
42 |
0.044 |
|
278 |
|
|
TRC097 |
Tracheomalacia |
42 |
0.044 |
|
279 |
|
c
|
MNT319 |
Mental Retardation, Autosomal Dominant 20 |
42 |
0.044 |
|
280 |
|
|
MCH006 |
Mechanical Strabismus |
42 |
0.044 |
|
281 |
|
c
|
BRT038 |
Baraitser-Winter Syndrome 1 |
41 |
0.044 |
|
282 |
|
|
WCK001 |
Wieacker-Wolff Syndrome |
41 |
0.044 |
|
283 |
|
|
PLG004 |
Plagiocephaly |
41 |
0.044 |
|
284 |
|
|
PLY183 |
Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome |
41 |
0.044 |
|
285 |
|
c
|
MCR112 |
Microvascular Complications of Diabetes 2 |
41 |
0.044 |
|
286 |
|
|
RDN001 |
Reading Disorder |
40 |
0.044 |
|
287 |
|
|
48X005 |
48,xyyy |
39 |
0.044 |
|
288 |
|
|
ADP007 |
Adie Pupil |
39 |
0.044 |
|
289 |
|
|
FRS019 |
Farsightedness |
38 |
0.044 |
|
290 |
|
P
|
CRB088 |
Cerebral Atrophy |
37 |
0.044 |
|
291 |
|
|
SYS071 |
Systemic Autoimmune Disease |
37 |
0.044 |
|
292 |
|
|
ATX010 |
Ataxia Neuropathy Spectrum |
34 |
0.044 |
|
293 |
|
|
ALR002 |
Al-Raqad Syndrome |
33 |
0.044 |
|
294 |
|
|
ACT064 |
Acute Necrotizing Encephalitis |
33 |
0.044 |
|
295 |
|
c
|
HRD198 |
Hereditary Dystonia |
30 |
0.044 |
|
296 |
|
c
|
RTT008 |
Rett Syndrome, Congenital Variant |
30 |
0.044 |
|
297 |
|
|
HNM002 |
Hinman Syndrome |
27 |
0.044 |
|
298 |
|
P
|
BLT016 |
Bilateral Polymicrogyria |
27 |
0.044 |
|
299 |
|
|
APC009 |
Apocrine Gland Secretion, Variation in |
24 |
0.044 |
|
300 |
|
P
|
PLM064 |
Pulmonary Sequestration |
22 |
0.044 |
|
301 |
|
|
SPC022 |
Specific Antibody Deficiency |
22 |
0.044 |
|
302 |
|
|
THY020 |
Thyroid Hyalinizing Trabecular Adenoma |
21 |
0.044 |
|
303 |
|
|
CHR507 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
21 |
0.044 |
|
304 |
|
|
FXG001 |
Foxg1 Syndrome |
20 |
0.044 |
|
305 |
|
|
BLD137 |
Blood Group--Ahonen |
16 |
0.044 |
|
306 |
|
|
CHR274 |
Chromosome Xq Duplication |
13 |
0.044 |
|
307 |
|
|
SBP003 |
Subependymal Nodular Heterotopia |
13 |
0.044 |
|
308 |
|
c
|
SYS067 |
Systemic Lupus Erythematosus 15 |
12 |
0.044 |
|