Search results for vldlr

213 hits were found for vldlr

# Family MCID Name MIFTS Score
1
P CRB185 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 54 92.035
2
P CRB045 Cerebellar Hypoplasia 40 23.818
3
P LSS002 Lissencephaly 50 17.420
4
P ALZ034 Alzheimer Disease 87 16.862
6
P SCH015 Schizophrenia 74 13.719
7
P STR020 Strabismus 56 13.160
8
P MCR010 Microcephaly 60 12.895
9
CRT016 Carotid Artery Disease 52 12.059
10
c ATS307 Autosomal Recessive Cerebellar Ataxia 39 11.929
11
KHN001 Kuhnt-Junius Degeneration 48 11.599
12
P PNT019 Pontocerebellar Hypoplasia 46 11.381
13
CRB215 Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay 35 11.364
14
CMM005 Common Cold 56 11.116
15
c EXD008 Exudative Vitreoretinopathy 1 71 10.715
16
OST024 Osteoporosis-Pseudoglioma Syndrome 60 10.167
17
CRB139 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 36 9.681
18
MLL018 Miller-Dieker Lissencephaly Syndrome 52 8.951
19
DSS008 Disease of Mental Health 74 8.821
20
P LSS024 Lissencephaly with Cerebellar Hypoplasia 36 8.286
21
P BND018 Band Heterotopia 53 8.286
22
P PRV002 Periventricular Nodular Heterotopia 52 8.139
23
c LSS006 Lissencephaly 2 55 7.964
24
DNN002 Donnai-Barrow Syndrome 55 7.189
25
FML285 Familial Apolipoprotein C-Ii Deficiency 35 7.189
26
c CNG031 Congenital Nervous System Abnormality 24 7.189
27
CRB027 Cerebellar Disease 47 7.189
28
FML026 Familial Lipoprotein Lipase Deficiency 52 7.189
29
ATX038 Ataxia and Polyneuropathy, Adult-Onset 46 5.905
30
RTN020 Retinal Vascular Disease 46 5.579
31
c HYP836 Hypercholesterolemia, Familial, 1 73 4.749
32
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 4.625
33
NNL005 Non-Alcoholic Fatty Liver Disease 63 4.134
34
TLN003 Telangiectasis 51 4.092
35
c FML021 Familial Hypercholesterolemia 72 4.055
36
LPD008 Lipid Metabolism Disorder 62 3.995
37
FTT001 Fatty Liver Disease 62 3.910
38
HYP266 Hypoxia 57 3.910
39
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 3.628
40
P RTN018 Retinal Disease 53 3.571
41
c LSS005 Lissencephaly 1 57 3.179
42
MCH006 Mechanical Strabismus 40 2.993
43
P HYP750 Hypertriglyceridemia, Familial 62 2.902
44
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 2.796
45
c MJR022 Major Affective Disorder 8 38 2.790
46
c MJR024 Major Affective Disorder 9 41 2.790
47
P BPL003 Bipolar Disorder 56 2.790
48
P RTN016 Retinal Degeneration 52 2.790
49
P HYP265 Hypotonia 42 2.760
50
RPD005 Rapidly Involuting Congenital Hemangioma 46 2.718
51
ART004 Aortic Atherosclerosis 47 2.718
52
c CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 27 2.587
53
GST040 Gastric Adenocarcinoma 67 2.452
54
c MCR115 Microvascular Complications of Diabetes 5 65 2.400
55
CHL014 Cholera 62 2.400
56
P LVR013 Liver Disease 69 2.390
57
LKS001 Leukostasis 41 2.390
58
c HPT073 Hepatitis C Virus 71 2.311
59
ESP021 Esophageal Cancer 83 2.311
60
GLC003 Glucose Intolerance 54 2.311
61
c HPT001 Hepatitis C 62 2.311
62
PCH002 Pachygyria 32 2.311
63
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 2.217
64
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 2.217
65
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 2.217
66
c BDY012 Body Mass Index Quantitative Trait Locus 7 44 2.217
67
P BDY004 Body Mass Index Quantitative Trait Locus 11 83 2.217
68
c BDY006 Body Mass Index Quantitative Trait Locus 8 44 2.217
69
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 2.217
70
c BDY020 Body Mass Index Quantitative Trait Locus 19 52 2.217
71
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 2.217
72
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 2.217
73
ATH013 Atherosclerosis Susceptibility 63 2.124
74
c ATS007 Autism Spectrum Disorder 72 2.117
75
BNR002 Bone Resorption Disease 47 2.117
76
P OST001 Osteopetrosis 71 2.117
77
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 57 2.009
78
P CRB210 Cerebrofacial Arteriovenous Metameric Syndrome 27 2.009
79
CHR074 Choriocarcinoma 46 1.977
80
P ATS364 Autism 69 1.922
81
PRT036 Peritonitis 65 1.899
82
ART140 Arteries, Anomalies of 53 1.892
83
c CRB195 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 23 1.892
84
P HYP838 Hyperlipidemia, Familial Combined, 3 61 1.892
85
P BRS047 Breast Cancer 98 1.835
86
P SMP003 Simpson-Golabi-Behmel Syndrome 49 1.762
87
c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 24 1.762
89
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 59 1.734
90
P MYC007 Myocardial Infarction 70 1.645
91
c ACT075 Acute Myocardial Infarction 56 1.645
92
ATS301 Autosomal Dominant Epilepsy with Auditory Features 36 1.616
93
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 1.551
94
c WLM013 Wilms Tumor 1 66 1.451
95
TXC005 Toxic Shock Syndrome 62 1.451
96
c TYP009 Type 2 Diabetes Mellitus 92 1.343
97
P MSC003 Muscular Atrophy 52 1.343
98
P MYS005 Myositis 56 1.226
99
c CNG411 Congenital Disorder of Glycosylation, Type in 67 1.226
100
INC002 Inclusion Body Myositis 57 1.226
101
P MYP004 Myopathy 67 1.226
102
NRN016 Neuronal Migration Disorders 40 1.226
103
PLY183 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 41 1.097
104
TBL023 Tubulinopathies 31 1.097
105
PLY024 Polymicrogyria 47 1.097
106
P PNC035 Pancreatic Cancer 86 1.040
107
P CLR023 Colorectal Cancer 100 0.950
108
MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 66 0.950
109
P DBT009 Diabetes Mellitus 67 0.950
110
HYP066 Hyperglycemia 61 0.950
111
P PLM036 Pulmonary Fibrosis 66 0.950
112
SLC006 Silicosis 56 0.950
113
c CRT089 Cortical Dysplasia, Complex, with Other Brain Malformations 10 39 0.950
114
P HPT021 Hepatitis 69 0.950
115
GST033 Gestational Diabetes 61 0.950
116
P HYD006 Hydrocephalus 61 0.950
117
P EYD002 Eye Disease 57 0.950
118
P GLL018 Gallbladder Cancer 53 0.950
119
VSC002 Vascular Dementia 60 0.950
120
ADN027 Adenomyosis 57 0.775
121
c THY107 Thymoma, Familial 42 0.775
122
c ATR087 Atrial Standstill 1 74 0.775
123
P ATX030 Ataxia-Telangiectasia 80 0.775
124
NNL006 Non-Alcoholic Steatohepatitis 54 0.775
125
P CND005 Cone Dystrophy 47 0.775
126
P MJR001 Major Depressive Disorder 68 0.775
127
c NMN015 Niemann-Pick Disease, Type C1 68 0.775
128
P BCL017 B-Cell Lymphoma 59 0.775
129
P NRB001 Neuroblastoma 66 0.775
130
GLB002 Glioblastoma 67 0.775
131
MNT002 Mental Depression 57 0.775
132
c FTL070 Fetal Akinesia Deformation Sequence 2 36 0.775
133
PTH002 Pathological Gambling 48 0.775
134
P VSC007 Vascular Disease 63 0.775
135
P NMN002 Niemann-Pick Disease 60 0.775
136
CRN027 Corneal Neovascularization 47 0.775
137
P END044 Endometriosis 62 0.775
138
P THY023 Thymoma 64 0.775
139
HYP060 Hyperinsulinism 54 0.775
140
DPR016 Depression 65 0.775
141
MCK005 Mckusick-Kaufman Syndrome 61 0.548
142
c INH030 Inherited Retinal Disorder 28 0.548
143
P THL005 Thalassemia 56 0.548
144
FRN006 Frontotemporal Dementia 68 0.548
145
SCH018 Schizencephaly 52 0.548
146
RTN017 Retinal Detachment 60 0.548
147
c AMY091 Amyotrophic Lateral Sclerosis 1 88 0.548
148
P ERL057 Early Infantile Epileptic Encephalopathy 60 0.548
149
c BTT014 Beta-Thalassemia 72 0.548
150
WST001 West Syndrome 59 0.548
151
CLT003 Colitis 63 0.548
152
BTT017 Beta-Thalassemia Major 51 0.548
153
c RTN041 Retinitis Pigmentosa 11 42 0.548
154
P TRC086 Trichohepatoenteric Syndrome 1 59 0.548
155
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 80 0.548
156
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 68 0.548
157
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 63 0.548
158
P MCR129 Microvascular Complications of Diabetes 1 68 0.548
159
CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 37 0.548
160
c SPN283 Spinocerebellar Ataxia 37 36 0.548
161
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 40 0.548
162
c RTN035 Retinal Cone Dystrophy 3b 32 0.548
163
MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 51 0.548
164
P RTN024 Retinoblastoma 73 0.548
165
OST159 Osteogenic Sarcoma 66 0.548
166
HYP748 Hypertelorism 46 0.548
167
P MJR007 Major Affective Disorder 1 42 0.548
168
P HNT016 Huntington Disease 73 0.548
169
c SPN291 Spinocerebellar Ataxia 7 53 0.548
170
P HPT023 Hepatocellular Carcinoma 96 0.548
171
RTN193 Retinitis Pigmentosa and Erythrocytic Microcytosis 52 0.548
172
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 38 0.548
173
c NMN014 Niemann-Pick Disease, Type C2 49 0.548
174
P WLF004 Wolfram Syndrome 61 0.548
175
PSD001 Pseudobulbar Palsy 38 0.548
176
P DYS154 Dystonia 64 0.548
177
LRN003 Learning Disability 49 0.548
178
FND002 Fundus Dystrophy 55 0.548
179
MCR099 Microlissencephaly 37 0.548
180
END040 Endogenous Depression 55 0.548
181
OVR063 Overnutrition 42 0.548
182
P CTR002 Cataract 60 0.548
183
OST012 Osteoarthritis 77 0.548
184
c MCR112 Microvascular Complications of Diabetes 2 42 0.548
185
P LTR001 Lateral Sclerosis 58 0.548
186
P ADN016 Adenocarcinoma 63 0.548
187
P HRT032 Heart Disease 81 0.548
188
c HRD202 Hereditary Lymphedema I 49 0.548
189
THY020 Thyroid Hyalinizing Trabecular Adenoma 20 0.548
190
P DYS005 Dyslexia 41 0.548
191
HYD001 Hydranencephaly 43 0.548
192
P TRT010 Teratoma 51 0.548
193
MDD011 Mood Disorder 62 0.548
194
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 0.548
195
CRB037 Cerebral Palsy 67 0.548
196
PFH001 Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia 17 0.548
198
XLN240 X-Linked Otopalatodigital Spectrum Disorders 13 0.548
199
PTH003 Pathologic Nystagmus 52 0.548
200
P ENC018 Encephalopathy 62 0.548
201
CNG486 Congenital Disorders of N-Linked Glycosylation and Multiple Pathway 29 0.548
202
P MTC069 Mitochondrial Disorders 57 0.548
204
P SCK005 Sickle Cell Disease 56 0.548
205
P MGL013 Megalencephaly 45 0.548
206
OHT001 Ohtahara Syndrome 38 0.548
207
CHR178 Chromosomal Triplication 34 0.548
208
HMM003 Hemimegalencephaly 48 0.548
209
CHR229 Chromosome 20p Duplication 29 0.548
210
P OVR042 Ovarian Cancer 88 0.492
211
P GST053 Gastric Cancer 83 0.492
212
TCL023 T-Cell Lymphoma, Subcutaneous Panniculitis-Like 50 0.492
213
P EPL164 Epilepsy 68 0.492
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