Search results for cenpe

282 hits were found for cenpe

# Family MCID Name MIFTS Score
1
c MCR236 Microcephaly 13, Primary, Autosomal Recessive 32 43.516
2
P SCK004 Seckel Syndrome 58 30.063
3
P MCR010 Microcephaly 60 17.225
4
c SCL052 Scleroderma, Familial Progressive 61 13.743
5
c FNC027 Fanconi Anemia, Complementation Group a 81 13.326
6
c PRM031 Primary Autosomal Recessive Microcephaly 55 12.808
7
P SYS005 Systemic Scleroderma 74 12.637
8
c PLY162 Polyposis Syndrome, Hereditary Mixed, 1 60 10.988
9
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 57 9.671
10
P HRD144 Hereditary Mixed Polyposis Syndrome 54 8.324
11
RYN005 Raynaud Phenomenon 45 8.295
12
HLX001 Helix Syndrome 48 7.008
13
CLC006 Calcinosis 47 5.841
14
PRM236 Primary Biliary Cholangitis 60 5.612
15
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 5.585
16
CNN005 Connective Tissue Disease 67 5.177
17
P HPT023 Hepatocellular Carcinoma 96 5.001
18
TLN003 Telangiectasis 51 5.001
19
ATM095 Autoimmune Disease 61 4.964
20
LNG099 Lung Disease 62 4.942
21
INT066 Interstitial Lung Disease 60 4.801
22
CRS005 Crest Syndrome 36 4.692
23
P ADN016 Adenocarcinoma 63 4.506
24
LVR012 Liver Cirrhosis 63 4.187
25
P SJG008 Sjogren Syndrome 61 4.052
26
P LNG064 Lung Cancer Susceptibility 3 70 3.996
27
NND010 Nondisjunction 34 3.950
28
RYN001 Raynaud Disease 50 3.611
29
c SYS001 Systemic Lupus Erythematosus 87 3.511
30
P LPS004 Lupus Erythematosus 61 3.511
31
P OVR042 Ovarian Cancer 88 3.505
32
PSR001 Psoriatic Arthritis 62 3.500
33
P PLM037 Pulmonary Hypertension 72 3.460
34
c ATM011 Autoimmune Hepatitis 63 3.460
35
LMT001 Limited Scleroderma 47 3.453
36
P HRP006 Herpes Simplex 65 3.408
37
P RHM011 Rheumatoid Arthritis 82 3.244
38
ESP021 Esophageal Cancer 83 3.206
39
P RTN016 Retinal Degeneration 52 3.206
40
47X002 47,xyy 48 3.186
41
P MYS005 Myositis 56 3.128
42
c ATR087 Atrial Standstill 1 74 2.876
43
c DLT002 Dilated Cardiomyopathy 78 2.876
44
P NSP012 Nasopharyngeal Carcinoma 61 2.838
45
P RNG032 Ring Chromosome 39 2.813
46
ISL014 Isolated Growth Hormone Deficiency, Type Ia 54 2.808
47
DWR001 Dwarfism 44 2.808
48
OST159 Osteogenic Sarcoma 66 2.687
49
PPL022 Papilloma 53 2.687
50
SQM002 Squamous Cell Papilloma 46 2.687
51
GST020 Gastric Antral Vascular Ectasia 40 2.687
52
P GST053 Gastric Cancer 83 2.621
53
P LNG032 Lung Cancer 98 2.553
54
OCL069 Ocular Motor Apraxia 57 2.553
55
TNG007 Tongue Carcinoma 52 2.553
56
P INF032 Infertility 57 2.553
57
c LSS005 Lissencephaly 1 57 2.483
58
P BRS047 Breast Cancer 98 2.426
59
HND015 Hand Skill, Relative 30 2.424
60
c SML038 Small Cell Cancer of the Lung 69 2.410
61
P NRB001 Neuroblastoma 66 2.410
62
c PRM212 Primary Microcephaly 40 2.410
63
P ATS364 Autism 69 2.405
64
CHR178 Chromosomal Triplication 34 2.335
65
P CHR071 Charcot-Marie-Tooth Disease 64 2.333
66
TTH006 Tooth Disease 51 2.333
67
P CLL015 Collagen Disease 48 2.333
68
P LKM062 Leukemia, Acute Lymphoblastic 69 2.253
69
P MYP004 Myopathy 67 2.253
70
c HPT016 Hepatitis B 62 2.253
71
c RTN041 Retinitis Pigmentosa 11 42 2.199
72
P EST001 Estrogen-Receptor Positive Breast Cancer 49 2.199
73
CRV035 Cervical Cancer 73 2.169
74
KPS004 Kaposi Sarcoma 77 2.169
75
P SPP010 Suppressor of Tumorigenicity 3 51 2.169
76
P VSC011 Vasculitis 61 2.169
77
SQM013 Squamous Cell Carcinoma, Head and Neck 73 2.080
78
P PRS040 Prostate Cancer 95 2.080
79
SPN035 Spindle Cell Sarcoma 54 2.080
80
SRC014 Sarcoma 65 2.080
81
P XRD029 Xeroderma Pigmentosum, Complementation Group a 56 1.985
82
XRD010 Xeroderma Pigmentosum, Variant Type 73 1.985
83
DWN001 Down Syndrome 70 1.985
84
SVR004 Severe Combined Immunodeficiency 72 1.985
85
P ALZ034 Alzheimer Disease 87 1.884
86
MDD018 Middle East Respiratory Syndrome 44 1.884
87
P RHB003 Rhabdomyosarcoma 66 1.884
88
SLC006 Silicosis 56 1.884
89
SQM006 Squamous Cell Carcinoma 60 1.868
90
c PLM164 Pulmonary Hypertension, Primary, 1 76 1.795
91
CRB004 Cerebral Artery Occlusion 45 1.795
92
ISC004 Ischemia 61 1.795
93
OVR094 Ovarian Epithelial Cancer 39 1.795
94
SMT018 Smith-Mccort Dysplasia 2 34 1.773
95
IMM011 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 52 1.773
96
ADN018 Adenoma 59 1.773
97
MYP001 Myoepithelioma 37 1.773
98
HYD002 Hydronephrosis 58 1.773
99
P RTN008 Retinitis Pigmentosa 80 1.719
100
NRR001 Neuroretinitis 42 1.719
101
RTN023 Retinitis 46 1.719
102
P VSC007 Vascular Disease 63 1.719
103
P RTN018 Retinal Disease 53 1.719
104
P MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 55 1.651
105
c PRS114 Prostate Cancer, Hereditary, 2 33 1.651
106
DYS011 Dyskinesia of Esophagus 40 1.651
107
P HYP265 Hypotonia 42 1.651
108
P PLY041 Polymyositis 59 1.639
109
P PNC035 Pancreatic Cancer 86 1.610
110
VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 42 1.555
111
ACT209 Acatalasemia 44 1.555
112
P INF037 Inflammatory Bowel Disease 53 1.555
113
P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 60 1.555
114
ORL015 Oral Squamous Cell Carcinoma 43 1.555
115
P MLN007 Male Infertility 56 1.555
116
MXD005 Mixed Connective Tissue Disease 57 1.555
117
ORL011 Oral Cancer 60 1.555
118
48X005 48,xyyy 39 1.555
119
EWN003 Ewing Sarcoma 70 1.512
120
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 1.466
121
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 1.466
122
NNL005 Non-Alcoholic Fatty Liver Disease 63 1.466
123
HYP082 Hypopharynx Cancer 47 1.466
124
P EYD002 Eye Disease 57 1.466
125
MYL069 Myeloma, Multiple 77 1.371
126
P LKM002 Leukemia 67 1.371
127
ANX004 Anoxia 40 1.347
128
P VND007 Van Der Woude Syndrome 1 60 1.347
129
P ALP008 Alopecia 54 1.347
130
HYP005 Hypokalemia 55 1.347
131
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 1.347
132
P SNS001 Sensorineural Hearing Loss 59 1.347
133
P NTR004 Neutropenia 63 1.347
134
P HPT021 Hepatitis 69 1.347
135
MCS002 Mucositis 56 1.347
136
PLY100 Polyploidy 36 1.269
137
P CHL066 Cholangitis 52 1.269
138
FTT001 Fatty Liver Disease 62 1.269
139
GLB002 Glioblastoma 67 1.269
140
LYM017 Lyme Disease 62 1.269
141
DFF003 Diffuse Scleroderma 41 1.269
142
DFF035 Diffuse Cutaneous Systemic Sclerosis 46 1.269
143
LNG111 Lung Non-Squamous Non-Small Cell Carcinoma 56 1.235
144
P LNG021 Lung Occult Small Cell Carcinoma 20 1.235
145
LNG019 Lung Combined Type Small Cell Carcinoma 32 1.235
146
c AMY091 Amyotrophic Lateral Sclerosis 1 88 1.159
147
c PRM089 Premature Ovarian Failure 3 24 1.159
148
MLR004 Malaria 80 1.159
149
RPD005 Rapidly Involuting Congenital Hemangioma 46 1.159
150
GLL048 Glial Tumor 52 1.159
151
P TRN020 Turner Syndrome 67 1.159
152
P LTR001 Lateral Sclerosis 58 1.159
153
CRN027 Corneal Neovascularization 47 1.159
154
P GND004 Gonadal Dysgenesis 47 1.159
155
CHR229 Chromosome 20p Duplication 29 1.159
156
GLM045 Glioma 63 1.159
157
UMB002 Umbilical Hernia 47 1.133
158
HTC003 Hutchinson-Gilford Progeria Syndrome 65 1.133
159
HYP748 Hypertelorism 46 1.133
160
PRM329 Premature Aging 36 1.133
161
P SYP003 Syphilis 59 1.133
162
PTH003 Pathologic Nystagmus 52 1.133
163
CLP005 Ciliopathy 41 1.036
164
P EPL140 Epilepsy, Idiopathic Generalized 62 1.036
165
STR094 Stromme Syndrome 45 1.036
166
MNT001 Mantle Cell Lymphoma 67 1.036
167
LWG006 Low Grade Glioma 41 1.036
168
P ANT006 Antiphospholipid Syndrome 55 1.036
169
P PLM036 Pulmonary Fibrosis 66 1.036
170
AMN001 Amenorrhea 54 1.036
171
P BLD134 Bladder Cancer 79 0.898
172
c DWL002 Dowling-Degos Disease 1 58 0.898
173
P MYS003 Myasthenia Gravis 68 0.898
174
P ATX030 Ataxia-Telangiectasia 80 0.898
175
P LSS002 Lissencephaly 50 0.898
176
P LYM118 Lymphoma 67 0.898
177
P PLY006 Polydactyly 59 0.898
178
P RTN024 Retinoblastoma 73 0.898
179
RNL114 Renal Cell Carcinoma, Nonpapillary 80 0.898
180
P LVR013 Liver Disease 69 0.898
181
LNG039 Lung Squamous Cell Carcinoma 57 0.898
182
c LCL006 Localized Scleroderma 65 0.898
183
PTT037 Pituitary Tumors 44 0.898
184
LKP003 Leukoplakia 39 0.898
185
ADN011 Adenoid Cystic Carcinoma 68 0.873
186
CRV013 Cervical Adenoid Cystic Carcinoma 33 0.873
187
BRS099 Breast Ductal Carcinoma 61 0.816
188
c TYP008 Type 1 Diabetes Mellitus 70 0.733
189
TTR021 Tetrasomy 21 22 0.733
190
IMM072 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 52 0.733
191
P WSK001 Wiskott-Aldrich Syndrome 72 0.733
192
c MCR247 Microcephaly 1, Primary, Autosomal Recessive 42 0.733
193
PLY150 Polykaryocytosis Inducer 29 0.733
194
P CLC063 Celiac Disease 1 66 0.733
195
c FNC029 Fanconi Anemia, Complementation Group I 56 0.733
196
c ATS007 Autism Spectrum Disorder 72 0.733
197
c FNC042 Fanconi Anemia, Complementation Group D2 54 0.733
198
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 0.733
199
c PCH010 Pachyonychia Congenita 3 43 0.733
200
GST019 Gastrointestinal Stromal Tumor 78 0.733
201
DSS032 Disease by Infectious Agent 55 0.733
202
P LYN001 Lynch Syndrome 76 0.733
203
CLR030 Clear Cell Renal Cell Carcinoma 54 0.733
204
CMB007 Combined Immunodeficiency 57 0.733
205
P DRM010 Dermatomyositis 61 0.733
206
CNS004 Constipation 56 0.733
207
HGH043 High Grade Glioma 45 0.733
208
ISL001 Islet Cell Tumor 56 0.733
209
HYP080 Hypogonadism 50 0.733
210
NRN004 Neuroendocrine Tumor 59 0.733
211
UND007 Undifferentiated Connective Tissue Disease 28 0.733
212
c ATM082 Autoimmune Lymphoproliferative Syndrome, Type V 55 0.614
213
TTR011 Tetraploidy 43 0.518
214
ATX038 Ataxia and Polyneuropathy, Adult-Onset 46 0.518
215
SPP011 Suppression of Tumorigenicity 12 61 0.518
216
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 0.518
217
P LPR021 Leprosy 3 71 0.518
218
c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 45 0.518
219
END057 Endometrial Cancer 72 0.518
220
P MLN069 Melanoma, Uveal 61 0.518
221
P CLR023 Colorectal Cancer 100 0.518
222
PRM290 Premature Centromere Division 20 0.518
223
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 57 0.518
224
P FML011 Familial Adenomatous Polyposis 71 0.518
225
DFF005 Diffuse Large B-Cell Lymphoma 54 0.518
226
ATR057 Atrioventricular Block 54 0.518
227
c FNC028 Fanconi Anemia, Complementation Group L 46 0.518
228
P SML001 Small Cell Carcinoma 52 0.518
229
CHR710 Chronic Spontaneous Urticaria 45 0.518
230
c LKM061 Leukemia, Acute Myeloid 83 0.518
231
P EPL198 Epilepsy, Myoclonic Juvenile 61 0.518
232
P LRY029 Laryngomalacia 48 0.518
233
c BRN108 Branchiootic Syndrome 1 62 0.518
234
INT323 Intraocular Pressure Quantitative Trait Locus 64 0.518
235
ACT119 Acute Promyelocytic Leukemia 62 0.518
236
c HRM006 Hermansky-Pudlak Syndrome 3 44 0.518
237
c LNG109 Lung Cancer Susceptibility 1 26 0.518
238
VRC005 Varicose Veins 60 0.518
239
c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 61 0.518
240
c RTN032 Retinal Cone Dystrophy 1 24 0.518
241
P MDL005 Medulloblastoma 75 0.518
242
c CWD006 Cowden Syndrome 1 78 0.518
243
PLM129 Pulmonary Disease, Chronic Obstructive 74 0.518
244
CHL065 Cholangiocarcinoma 58 0.518
245
c MCR322 Microcephaly 18, Primary, Autosomal Dominant 32 0.518
246
CLR109 Colorectal Adenocarcinoma 50 0.518
247
THY029 Thyroid Carcinoma 51 0.518
248
CHR177 Chromophobe Renal Cell Carcinoma 54 0.518
249
SKN019 Skin Melanoma 71 0.518
250
P PSR002 Psoriasis 63 0.518
251
P NRP001 Neuropathy 60 0.518
252
P DBT009 Diabetes Mellitus 67 0.518
253
PNC129 Pancreatic Adenocarcinoma 65 0.518
254
P FBR017 Fibrosarcoma 56 0.518
255
P CRV031 Cervical Adenocarcinoma 48 0.518
256
PST011 Pustulosis of Palm and Sole 52 0.518
257
P DMN002 Dementia 66 0.518
258
LRY018 Laryngeal Squamous Cell Carcinoma 44 0.518
259
ALC009 Alcoholic Liver Cirrhosis 54 0.518
260
P MLN008 Melanoma 76 0.518
261
c BSL007 Basal Cell Carcinoma 68 0.518
262
P CHL002 Childhood Absence Epilepsy 63 0.518
263
TST014 Testicular Cancer 52 0.518
264
GST033 Gestational Diabetes 61 0.518
265
ESP002 Esophageal Varix 51 0.518
266
MCR013 Microphthalmia 60 0.518
267
INT079 Intrahepatic Cholangiocarcinoma 51 0.518
268
TCL028 T-Cell Lymphoblastic Leukemia/lymphoma 46 0.518
269
STM006 Stomach Disease 47 0.518
270
ERL001 Early Myoclonic Encephalopathy 62 0.518
271
P KDN017 Kidney Cancer 61 0.518
272
BRS051 Breast Disease 58 0.518
273
PRM024 Primary Angle-Closure Glaucoma 39 0.518
274
P URT039 Urticaria 58 0.518
275
ENT004 Enthesopathy 51 0.518
276
HNS001 Hansen's Disease 32 0.518
277
c LKM005 Leukemia, T-Cell, Chronic 34 0.518
278
PRN039 Paraneoplastic Syndromes 37 0.518
279
CTN020 Cutaneous Sclerosis 16 0.518
281
HPT070 Hepatosplenic T-Cell Lymphoma 36 0.430
282
c WLM018 Wilms Tumor 5 53 0.430
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