Search results for 1q Duplication

339 hits were found for 1q Duplication

# Family MCID Name MIFTS Score
1
1QD001 1q Duplications 17 6.085
2
P TRS029 Trisomy 1q 27 3.492
3
CHR178 Chromosomal Triplication 35 0.429
4
c LKM061 Leukemia, Acute Myeloid 83 0.228
5
P MYL006 Myeloid Leukemia 60 0.216
6
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 65 0.208
7
P MCR010 Microcephaly 58 0.181
8
P HYP265 Hypotonia 42 0.178
9
MYL009 Myelodysplastic Syndrome 70 0.177
10
P ATS364 Autism 65 0.154
11
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 50 0.147
12
P TRC086 Trichohepatoenteric Syndrome 1 59 0.146
13
P LYM031 Lymphocytic Leukemia 55 0.145
14
P LKM002 Leukemia 66 0.145
15
HYP748 Hypertelorism 50 0.140
16
THR013 Thoracic Outlet Syndrome 53 0.137
17
DWN001 Down Syndrome 70 0.137
18
CLF027 Cleft Palate, Isolated 64 0.135
19
c ATS007 Autism Spectrum Disorder 67 0.127
20
MYL069 Myeloma, Multiple 85 0.127
21
P LKM062 Leukemia, Acute Lymphoblastic 68 0.125
22
P HYD006 Hydrocephalus 65 0.125
23
P ANG001 Angelman Syndrome 67 0.124
24
P ADN016 Adenocarcinoma 64 0.124
25
P ANR048 Aniridia 1 63 0.124
26
P TRT010 Teratoma 51 0.124
27
47X002 47,xyy 49 0.123
28
ACN002 Acanthosis Nigricans 60 0.122
29
ANR007 Anorexia Nervosa 63 0.121
30
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 51 0.121
31
ATX010 Ataxia Neuropathy Spectrum 38 0.121
32
ACT064 Acute Necrotizing Encephalitis 32 0.121
33
BLD137 Blood Group--Ahonen 19 0.121
34
c ACT073 Acute Leukemia 58 0.117
35
INT323 Intraocular Pressure Quantitative Trait Locus 62 0.114
36
c WLM018 Wilms Tumor 5 62 0.112
37
P HYP040 Hypospadias 51 0.112
38
P SCL018 Scoliosis 60 0.111
39
CRY035 Cryptorchidism, Unilateral or Bilateral 59 0.111
40
CHR619 Chromosome 2q35 Duplication Syndrome 60 0.108
41
P MSC005 Muscular Dystrophy 66 0.107
42
CLF001 Cleft Lip 53 0.106
43
ING001 Inguinal Hernia 60 0.104
44
P AXN002 Axenfeld-Rieger Syndrome 58 0.104
45
BRK010 Burkitt Lymphoma 67 0.104
46
AND002 Androgen Insensitivity Syndrome 66 0.103
47
HRT011 Heart Septal Defect 50 0.102
48
ALR002 Al-Raqad Syndrome 34 0.102
49
P LYM118 Lymphoma 68 0.102
50
c SPN225 Spondyloarthropathy 1 73 0.101
51
c HYD064 Hydrocephalus, Congenital, 1 47 0.100
52
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 56 0.099
53
P SHR029 Short Syndrome 57 0.098
54
P SCH015 Schizophrenia 75 0.095
55
P RNL100 Renal Hypodysplasia/aplasia 1 63 0.094
56
CLF004 Cleft Lip/palate 54 0.092
57
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 58 0.091
58
P PRS038 Personality Disorder 65 0.091
59
P HRT032 Heart Disease 75 0.090
60
P BNG030 Benign Ependymoma 60 0.090
61
CLL010 Cellular Ependymoma 53 0.090
62
MCR013 Microphthalmia 60 0.089
63
LRN003 Learning Disability 49 0.088
64
P TRN020 Turner Syndrome 65 0.088
65
P NRB001 Neuroblastoma 71 0.088
66
P OVR082 Overgrowth Syndrome 50 0.086
67
P BRS047 Breast Cancer 96 0.086
68
P OMP004 Omphalocele 50 0.086
69
P SZR006 Seizure Disorder 58 0.086
70
P GND004 Gonadal Dysgenesis 49 0.085
71
DFC004 Deficiency Anemia 75 0.084
72
ADN018 Adenoma 58 0.084
73
c BRN108 Branchiootic Syndrome 1 61 0.083
74
ANS023 Anus, Imperforate 55 0.083
75
P RTN024 Retinoblastoma 72 0.082
76
c FML008 Familial Retinoblastoma 53 0.082
77
VSL002 Visual Epilepsy 58 0.081
78
EXS017 Exstrophy of Bladder 46 0.081
79
P BRC006 Brachydactyly 53 0.081
80
P EPL164 Epilepsy 71 0.080
81
P STR020 Strabismus 56 0.079
82
P ATR010 Atrial Heart Septal Defect 60 0.079
83
MYL005 Myelofibrosis 67 0.079
84
P SLV001 Silver-Russell Syndrome 54 0.078
85
MCH006 Mechanical Strabismus 39 0.077
86
PTS001 Patau Syndrome 49 0.077
87
RTN023 Retinitis 46 0.075
88
NRR001 Neuroretinitis 43 0.075
89
GRW007 Growth Hormone Deficiency 43 0.074
90
BRR014 Barrett Esophagus 64 0.074
91
P OPN001 Open-Angle Glaucoma 49 0.074
92
P INF032 Infertility 57 0.073
93
P RTN008 Retinitis Pigmentosa 77 0.073
94
PYL006 Pyloric Stenosis 48 0.072
95
ACT200 Acute Monoblastic Leukemia 55 0.072
96
c SYS001 Systemic Lupus Erythematosus 86 0.071
97
CRD002 Cri-Du-Chat Syndrome 48 0.071
98
CLB002 Clubfoot 47 0.070
99
c WLM013 Wilms Tumor 1 65 0.070
100
HPT022 Hepatoblastoma 56 0.070
101
P MNC007 Monocytic Leukemia 54 0.070
102
c LKM070 Leukemia, Acute Monocytic 53 0.070
103
PRT228 Partial Duplication of Chromosome 1 8 0.070
104
PRT174 Partial Deletion of the Long Arm of Chromosome 1 8 0.069
105
ATS010 Autosomal Recessive Disease 48 0.069
106
P CLR023 Colorectal Cancer 98 0.068
107
c LKM063 Leukemia, Chronic Myeloid 71 0.068
108
MLT173 Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability 21 0.068
109
NRF026 Neurofibromatosis, Type Iv, of Riccardi 63 0.068
110
MYL020 Myelomeningocele 51 0.067
111
MYC088 Mycobacterium Avium Complex Infections 29 0.067
112
ADL002 Adult Syndrome 69 0.066
113
ACT119 Acute Promyelocytic Leukemia 63 0.066
114
P PTS002 Ptosis 52 0.066
115
AND005 Androgen Insensitivity Syndrome, Mild 22 0.066
116
CRP032 Corpus Callosum, Agenesis of 49 0.065
117
END057 Endometrial Cancer 74 0.065
118
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.065
119
PNC001 Pancytopenia 54 0.065
120
THY029 Thyroid Carcinoma 59 0.065
121
c DPH024 Diaphragmatic Hernia, Congenital 64 0.065
122
P MYP004 Myopathy 64 0.065
123
P LPS004 Lupus Erythematosus 61 0.064
124
P OVR042 Ovarian Cancer 89 0.064
125
c FNC027 Fanconi Anemia, Complementation Group a 81 0.064
126
P PTN014 Patent Ductus Arteriosus 1 60 0.064
127
UND005 Undifferentiated Pleomorphic Sarcoma 66 0.064
128
c RTN041 Retinitis Pigmentosa 11 41 0.064
129
CHR382 Chromosome 18q Deletion Syndrome 38 0.064
130
P HYP061 Hypertrophic Cardiomyopathy 66 0.063
131
P HYP086 Hypothyroidism 68 0.063
132
P BPL003 Bipolar Disorder 56 0.063
133
HYP351 Hypertrichosis Universalis Congenita, Ambras Type 39 0.063
134
XLN215 X-Linked Congenital Generalized Hypertrichosis 19 0.063
135
c MNN043 Meningioma, Familial 74 0.062
136
MNN042 Meningioma, Radiation-Induced 62 0.062
137
P USH001 Usher Syndrome 59 0.062
138
P PLY018 Polycythemia 55 0.062
139
RTN187 Retinitis Pigmentosa-Deafness Syndrome 47 0.062
140
SPN021 Spinal Meningioma 47 0.062
141
P CTR002 Cataract 60 0.061
142
DDN011 Duodenal Atresia 49 0.061
143
PLY012 Polyhydramnios 46 0.061
144
c MJR024 Major Affective Disorder 9 41 0.061
145
ADP007 Adie Pupil 39 0.061
146
c MJR022 Major Affective Disorder 8 38 0.061
147
HPT082 Hepatic Adenomas, Familial 37 0.061
148
HNM002 Hinman Syndrome 29 0.061
149
c LKM071 Leukemia, Chronic Lymphocytic 79 0.061
150
SRC014 Sarcoma 65 0.061
151
P TRM003 Tremor 53 0.061
152
SPN035 Spindle Cell Sarcoma 51 0.061
153
RFR010 Refractory Anemia 48 0.061
154
CLB010 Coloboma of Macula 53 0.060
155
CTY001 Cat Eye Syndrome 44 0.060
156
CHR518 Chromosome 9p Deletion Syndrome 37 0.059
157
P PRS040 Prostate Cancer 97 0.058
158
ERY051 Erythroleukemia, Familial 56 0.058
159
P MDL005 Medulloblastoma 77 0.058
160
PLY001 Polycythemia Vera 69 0.058
161
RNL114 Renal Cell Carcinoma, Nonpapillary 78 0.058
162
LWC002 Lowe Oculocerebrorenal Syndrome 66 0.058
163
TRN018 Transitional Cell Carcinoma 56 0.058
164
ALK024 Alkuraya-Kucinskas Syndrome 43 0.058
165
ISL075 Isolated Pierre Robin Sequence 29 0.058
166
MTY003 Mutyh Polyposis 29 0.058
167
HMT002 Hematologic Cancer 62 0.057
168
DST011 Distal Chromosome 18q Deletion Syndrome 20 0.056
169
PRX013 Proximal Chromosome 18q Deletion Syndrome 17 0.056
170
P APL001 Aplastic Anemia 74 0.056
171
c HMC039 Hemochromatosis, Type 1 74 0.056
172
c THY109 Thyroid Cancer, Nonmedullary, 1 55 0.056
173
SCR001 Secretory Meningioma 37 0.056
174
LYM002 Lymphoplasmacyte-Rich Meningioma 36 0.056
175
GLB015 Glioblastoma Multiforme 75 0.055
176
P AMY004 Amyloidosis 70 0.055
177
DWR001 Dwarfism 44 0.055
178
SCR024 Sacrococcygeal Teratoma 29 0.055
179
MLL018 Miller-Dieker Lissencephaly Syndrome 52 0.055
180
P PRR016 Pierre Robin Syndrome 52 0.055
181
JCB001 Jacobsen Syndrome 49 0.055
182
CHR211 Chromosome 18p Deletion Syndrome 38 0.055
183
CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 36 0.055
184
DDN009 Duodenal Obstruction 34 0.055
185
CYS001 Cystic Fibrosis 80 0.054
186
CYS002 Cystic Lymphangioma 47 0.054
187
P CRB045 Cerebellar Hypoplasia 37 0.054
188
MSC020 Mosaic Trisomy 8 33 0.054
189
BLD163 Blood Group, Dombrock System 26 0.054
190
CNG506 Congenital Amyoplasia 25 0.054
191
EPG004 Epignathus 19 0.054
192
EWN003 Ewing Sarcoma 68 0.053
193
P AGM001 Agammaglobulinemia 65 0.053
194
HYD038 Hydrops Fetalis, Nonimmune 61 0.053
195
P MYP006 Myopia 55 0.053
196
P AST007 Astrocytoma 50 0.053
197
HMN044 Human Immunodeficiency Virus Type 1 71 0.052
198
c PRM196 Premature Ovarian Failure 1 68 0.052
199
P CNT110 Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a 60 0.052
200
CHR492 Chromosome 13q14 Deletion Syndrome 41 0.052
201
FCL090 Facial Cleft 33 0.052
202
P ESS003 Essential Thrombocythemia 67 0.052
203
P FLL037 Follicular Lymphoma 66 0.052
204
HYP060 Hyperinsulinism 54 0.052
205
ALC007 Alcohol Dependence 66 0.051
206
P PSR002 Psoriasis 62 0.051
207
c GLC097 Glaucoma 3, Primary Congenital, a 56 0.051
208
CHR255 Chromosome 6p Deletion 12 0.051
209
P BLD134 Bladder Cancer 78 0.051
210
c ATR087 Atrial Standstill 1 74 0.051
211
CRH001 Crohn's Disease 74 0.051
212
P ACR001 Aicardi-Goutieres Syndrome 65 0.051
213
AGN016 Aging 56 0.051
214
P LYM025 Lymphedema 53 0.051
215
c GLY005 Glycogen Storage Disease Vi 51 0.051
216
c ACR116 Aicardi-Goutieres Syndrome 1 51 0.051
217
PCT003 Pectus Excavatum 48 0.051
218
ABD010 Abdominal Wall Defect 35 0.051
219
LVR012 Liver Cirrhosis 63 0.049
220
ATM095 Autoimmune Disease 61 0.049
221
P DST002 Distal Arthrogryposis 58 0.049
222
P BCL017 B-Cell Lymphoma 58 0.049
223
P HYP077 Hypertrichosis 50 0.049
224
MNS016 Monosomy 7 of Bone Marrow 26 0.049
225
P GLM040 Glioma Susceptibility 1 81 0.048
226
P CLC063 Celiac Disease 1 68 0.048
227
MGK001 Megakaryocytic Leukemia 64 0.048
228
PST011 Pustulosis of Palm and Sole 52 0.048
229
ACT098 Acute Erythroid Leukemia 48 0.048
230
CHR257 Chromosome 6q Deletion 17 0.048
231
ESP021 Esophageal Cancer 90 0.047
232
LYM143 Lymphoma, Non-Hodgkin, Familial 72 0.047
233
LYM133 Lymphoma, Hodgkin, Classic 69 0.047
234
P GLM045 Glioma 63 0.047
235
P KDN017 Kidney Cancer 61 0.047
236
HYP458 Hyper Ige Syndrome 54 0.047
237
P MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 45 0.047
238
TLC001 Telecanthus 34 0.047
239
3PD001 3p Deletion Syndrome 18 0.047
240
NSP010 Nasopharyngeal Teratoma 15 0.047
241
P HPT023 Hepatocellular Carcinoma 100 0.045
242
c DLT002 Dilated Cardiomyopathy 79 0.045
243
HYP056 Hypoglycemia 66 0.045
244
P NTR004 Neutropenia 63 0.045
245
P CHR285 Chronic Myelomonocytic Leukemia 59 0.045
246
ARS001 Aarskog-Scott Syndrome 57 0.045
247
SPC010 Speech and Communication Disorders 47 0.045
248
GLL048 Glial Tumor 45 0.045
249
DYS018 Dysostosis 43 0.045
250
PRT161 Partial Deletion of the Short Arm of Chromosome 3 15 0.045
251
P HYP098 Hypereosinophilic Syndrome 66 0.044
252
END041 Endometrial Adenocarcinoma 63 0.044
253
P HYP069 Hyperparathyroidism 62 0.044
254
P LRS001 Larsen Syndrome 62 0.044
255
c PRM032 Primary Congenital Glaucoma 43 0.044
256
SLT005 Solitary Median Maxillary Central Incisor 33 0.044
257
c HYP595 Hypertension, Essential 84 0.043
258
CRB037 Cerebral Palsy 68 0.043
259
PSY004 Psychotic Disorder 67 0.043
260
OST159 Osteogenic Sarcoma 66 0.043
261
ACQ007 Acquired Immunodeficiency Syndrome 60 0.043
262
CHR072 Chordoma 59 0.043
263
c LKM060 Leukemia, Acute Lymphoblastic 3 56 0.043
264
FRY002 Fryns Syndrome 43 0.043
265
EPC005 Epicanthus 43 0.043
266
CRP035 Corpus Callosum, Partial Agenesis of, X-Linked 39 0.043
267
ORF053 Orofacial Clefting Syndrome 22 0.043
268
MLR004 Malaria 80 0.040
269
AGM019 Agammaglobulinemia, X-Linked 72 0.040
270
MYL031 Myeloproliferative Neoplasm 65 0.040
271
P RHB003 Rhabdomyosarcoma 62 0.040
272
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 57 0.040
273
OCL069 Ocular Motor Apraxia 51 0.040
274
P ANT088 Anterior Segment Dysgenesis 49 0.040
275
c SCH079 Schizophrenia 1 48 0.040
276
c INH030 Inherited Retinal Disorder 47 0.040
277
c MLG068 Malignant Glioma 45 0.040
278
CLB019 Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly 44 0.040
279
MYL074 Myelodysplastic Syndrome with Excess Blasts 38 0.040
280
CLF028 Cleft Soft Palate 36 0.040
281
SVN002 Sveinsson Chorioretinal Atrophy 36 0.040
282
ACR017 Acrofacial Dysostosis 32 0.040
283
RFR007 Refractory Anemia with Excess Blasts in Transformation 27 0.040
284
P PRM011 Primary Ciliary Dyskinesia 69 0.038
285
P THR014 Thrombocytopenia 68 0.038
286
WLF001 Wolff-Parkinson-White Syndrome 65 0.038
287
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 64 0.038
288
P ALP009 Alopecia Areata 60 0.038
289
BNG009 Benign Epilepsy with Centrotemporal Spikes 58 0.038
290
CHR081 Choroideremia 57 0.038
291
ACT193 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) 55 0.038
292
P LFT003 Left Ventricular Noncompaction 55 0.038
293
ACR058 Acrofacial Dysostosis 1, Nager Type 54 0.038
294
LYM040 Lymphoblastic Lymphoma 54 0.038
295
CLR030 Clear Cell Renal Cell Carcinoma 53 0.038
296
P THY032 Thyroiditis 53 0.038
297
CRH005 Crohn's Colitis 52 0.038
298
PRS045 Prostatic Hypertrophy 52 0.038
299
FND002 Fundus Dystrophy 51 0.038
300
PRS021 Prostatic Adenoma 51 0.038
301
P THR015 Thrombophilia 50 0.038
302
c CNG216 Congenital Hydrocephalus 50 0.038
303
PRS129 Prostatic Hyperplasia, Benign 49 0.038
304
c LYM150 Lymphatic Malformation 7 41 0.038
305
PCH002 Pachygyria 31 0.038
306
CHR170 Choroid Plexus Cyst 15 0.038
308
P RHM011 Rheumatoid Arthritis 80 0.034
309
c HPT073 Hepatitis C Virus 70 0.034
310
OBS002 Obsessive-Compulsive Disorder 68 0.034
311
WHM001 Whim Syndrome 59 0.034
312
c USH036 Usher Syndrome, Type I 59 0.034
313
c CLR131 Ciliary Dyskinesia, Primary, 1 58 0.034
314
P URT039 Urticaria 58 0.034
315
P VND007 Van Der Woude Syndrome 1 58 0.034
316
P EXN002 Exanthem 57 0.034
317
DFF005 Diffuse Large B-Cell Lymphoma 56 0.034
318
HMS001 Hemosiderosis 54 0.034
319
SCH012 Schizoaffective Disorder 50 0.034
320
c AMY009 Amyloidosis Aa 50 0.034
321
WLL006 Wells Syndrome 50 0.034
322
c FML053 Familial Colorectal Cancer 48 0.034
323
c USH035 Usher Syndrome Type 2 46 0.034
324
MYX004 Myxedema 44 0.034
325
P BCL004 B-Cell Non-Hodgkin Lymphoma 44 0.034
326
P MJR007 Major Affective Disorder 1 43 0.034
327
GNT031 Genitopatellar Syndrome 42 0.034
328
P RRH023 Rare Hereditary Hemochromatosis 41 0.034
329
ENC005 Encephalomalacia 38 0.034
330
c SYS043 Systemic Lupus Erythematosus 1 38 0.034
331
P HVY001 Heavy Chain Disease 35 0.034
332
NTR042 Neutrophilic Dermatosis, Acute Febrile 33 0.034
333
ERY069 Erythrokeratoderma ''en Cocardes'' 30 0.034
334
CHL079 Children's Interstitial Lung Disease 27 0.034
335
TTR019 Tetrasomy 5p 23 0.034
336
CHR208 Chromosome 17p Deletion 23 0.034
337
MDF001 Midface Dysplasia 11 0.034
338
PRT164 Partial Deletion of the Short Arm of Chromosome 8 10 0.034
339
PRT147 Partial Deletion of Chromosome 9 5 0.034
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