Search results for lrp2

230 hits were found for lrp2

# Family MCID Name MIFTS Score
1
DNN002 Donnai-Barrow Syndrome 55 80.280
2
NRL016 Neural Tube Defects 81 16.511
3
P MYP006 Myopia 56 15.529
4
P GLM007 Glomerulonephritis 60 14.459
5
P MMB011 Membranous Nephropathy 50 14.363
6
P HLP001 Holoprosencephaly 69 14.027
7
P KDN018 Kidney Disease 72 13.900
8
CYS010 Cystinosis 62 13.233
9
P SNS001 Sensorineural Hearing Loss 59 13.139
10
FND002 Fundus Dystrophy 55 12.651
11
BHC003 Behcet Syndrome 71 12.650
12
P DNT020 Dent Disease 1 63 12.314
13
PRT251 Proteinuria, Chronic Benign 57 11.982
14
P STC001 Stickler Syndrome 60 11.953
15
P FNC004 Fanconi Syndrome 60 11.809
16
LWC002 Lowe Oculocerebrorenal Syndrome 68 11.527
17
INS024 Insulin-Like Growth Factor I 78 10.860
18
NPH009 Nephrolithiasis 54 10.682
19
URT010 Ureteral Obstruction 45 9.892
20
P DBT009 Diabetes Mellitus 67 9.892
21
c PRM005 Primary Hyperparathyroidism 59 9.892
22
c DPH024 Diaphragmatic Hernia, Congenital 64 9.141
23
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 8.759
24
PTT048 Pituitary Adenoma, Prolactin-Secreting 64 8.551
25
FML168 Familial Isolated Pituitary Adenoma 32 8.551
26
CNG016 Congenital Intrinsic Factor Deficiency 36 7.554
27
FNC059 Fanconi-Like Syndrome 35 6.995
28
ARM001 Aromatase Deficiency 54 6.995
29
c 3MT015 3-Methylglutaconic Aciduria, Type I 51 6.995
30
ACT003 Acute Kidney Tubular Necrosis 46 6.995
31
CRB001 Cerebral Lymphoma 36 6.995
32
RNL021 Renal Tubular Transport Disease 27 6.995
33
MGL001 Megaloblastic Anemia 58 6.995
34
DPH021 Diaphragm Disease 42 6.995
35
DSS008 Disease of Mental Health 74 6.416
36
DPH010 Diaphragmatic Hernia Exomphalos Corpus Callosum Agenesis 8 4.553
37
GT001 Gout 64 3.527
38
LPD008 Lipid Metabolism Disorder 62 3.035
39
c SCL052 Scleroderma, Familial Progressive 61 2.758
40
P RHM011 Rheumatoid Arthritis 82 2.758
41
c SYS001 Systemic Lupus Erythematosus 87 2.758
42
HYP014 Hyperuricemia 51 2.620
43
PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 34 2.560
44
SKN022 Skin Squamous Cell Carcinoma 54 2.560
45
PSD011 Pseudovascular Skin Squamous Cell Carcinoma 16 2.560
46
HYP748 Hypertelorism 46 2.521
47
P NPH012 Nephrotic Syndrome 60 2.434
48
RTN017 Retinal Detachment 60 2.344
49
c HYP836 Hypercholesterolemia, Familial, 1 73 2.313
50
P MLT020 Multiple Sclerosis 79 2.193
51
P VNT002 Ventricular Septal Defect 58 2.193
52
ATS010 Autosomal Recessive Disease 42 2.146
53
CNT061 Conotruncal Heart Malformations 66 2.061
54
MNC001 Monocular Esotropia 30 2.061
55
EST005 Esotropia 43 2.061
56
ANN002 Anencephaly 57 2.036
57
END086 End Stage Renal Disease 52 2.036
58
SCL014 Scleral Staphyloma 23 2.036
59
RCK004 Rickets 68 2.015
60
P ATS364 Autism 69 1.917
61
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 1.917
62
c ATS007 Autism Spectrum Disorder 72 1.917
63
THY029 Thyroid Carcinoma 51 1.917
64
P FCL005 Focal Segmental Glomerulosclerosis 57 1.917
65
CRS001 Crescentic Glomerulonephritis 42 1.917
66
c PLY162 Polyposis Syndrome, Hereditary Mixed, 1 60 1.865
67
c CLR087 Colorectal Cancer 12 34 1.865
68
GST103 Gastric Cancer, Hereditary Diffuse 68 1.865
69
SML009 Small Intestine Adenocarcinoma 57 1.865
70
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 1.853
71
P MYC084 Mycobacterium Tuberculosis 1 68 1.785
72
INT323 Intraocular Pressure Quantitative Trait Locus 64 1.785
73
47X002 47,xyy 48 1.785
74
P OPT006 Optic Nerve Disease 58 1.785
75
c MCR130 Microvascular Complications of Diabetes 6 41 1.734
76
c MCR120 Microvascular Complications of Diabetes 7 47 1.734
77
c MCR113 Microvascular Complications of Diabetes 3 52 1.734
78
c MCR133 Microvascular Complications of Diabetes 4 41 1.734
79
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 1.635
80
c BRN108 Branchiootic Syndrome 1 62 1.635
81
c UNP004 Uniparental Disomy of Chromosome 2 12 1.635
82
P BND020 Bone Disease 59 1.580
83
P BCL017 B-Cell Lymphoma 59 1.458
84
P MLN008 Melanoma 76 1.458
85
P HYP055 Hypoplastic Left Heart Syndrome 65 1.458
86
RFR003 Refractive Error 41 1.369
87
P PNC035 Pancreatic Cancer 86 1.363
88
P BRS047 Breast Cancer 98 1.329
89
ESP021 Esophageal Cancer 83 1.318
90
ESP027 Esophagus Squamous Cell Carcinoma 45 1.318
91
GLC003 Glucose Intolerance 54 1.249
92
P PLY011 Polycystic Ovary Syndrome 57 1.249
93
c CHR684 Chronic Kidney Disease 69 1.226
94
CHL004 Cholelithiasis 49 1.226
95
c FML021 Familial Hypercholesterolemia 72 1.226
96
P OVR082 Overgrowth Syndrome 49 1.118
97
P OMP004 Omphalocele 48 1.118
98
LYS002 Lysosomal Storage Disease 51 1.118
99
P KNB001 Knobloch Syndrome 38 1.118
100
SML031 Small Cell Carcinoma of the Bladder 46 1.034
101
P BLD134 Bladder Cancer 79 1.034
102
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.968
103
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.968
104
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 0.968
105
ATM095 Autoimmune Disease 61 0.968
106
c BDY012 Body Mass Index Quantitative Trait Locus 7 44 0.968
107
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 43 0.968
108
P BDY004 Body Mass Index Quantitative Trait Locus 11 83 0.968
109
c BDY006 Body Mass Index Quantitative Trait Locus 8 44 0.968
110
P GST053 Gastric Cancer 83 0.968
111
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.968
112
c BDY020 Body Mass Index Quantitative Trait Locus 19 52 0.968
113
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.968
114
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 0.968
115
ENT011 Enterocolitis 55 0.968
116
CHL065 Cholangiocarcinoma 58 0.968
117
SYS071 Systemic Autoimmune Disease 35 0.968
118
c VRL007 Viral Encephalitis 50 0.968
119
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 0.968
120
P LNG064 Lung Cancer Susceptibility 3 70 0.968
121
JPN002 Japanese Encephalitis 61 0.968
122
INT079 Intrahepatic Cholangiocarcinoma 51 0.968
123
P ENC004 Encephalitis 61 0.968
124
48X005 48,xyyy 39 0.968
125
PRN019 Perinatal Necrotizing Enterocolitis 60 0.968
126
c GLM047 Glioma Susceptibility 3 33 0.967
127
c MSM022 Mismatch Repair Cancer Syndrome 1 70 0.967
128
c GLM025 Glioma Susceptibility 2 30 0.967
129
c GLM043 Glioma Susceptibility 9 30 0.967
130
P GLM040 Glioma Susceptibility 1 71 0.967
131
MNN043 Meningioma, Familial 79 0.967
132
P OLG002 Oligodendroglioma 66 0.967
133
GLM045 Glioma 63 0.967
134
IMR003 Imerslund-Grasbeck Syndrome 2 25 0.911
135
P IMR002 Imerslund-Grasbeck Syndrome 1 42 0.911
136
c WLF013 Wolfram Syndrome 1 60 0.790
137
P ALZ034 Alzheimer Disease 87 0.790
138
P OVR042 Ovarian Cancer 88 0.790
139
VLV047 Volvulus of Midgut 52 0.790
140
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 0.790
141
NNL005 Non-Alcoholic Fatty Liver Disease 63 0.790
142
MYP060 Myopic Macular Degeneration 19 0.790
143
PNC129 Pancreatic Adenocarcinoma 65 0.790
144
LNG039 Lung Squamous Cell Carcinoma 57 0.790
145
P RTN016 Retinal Degeneration 52 0.790
146
P VSC007 Vascular Disease 63 0.790
147
P ART005 Arteriovenous Malformation 65 0.790
148
CYT002 Cytokine Deficiency 43 0.790
149
c PRM196 Premature Ovarian Failure 1 59 0.756
150
PRM013 Premature Menopause 58 0.756
151
BRS099 Breast Ductal Carcinoma 61 0.756
152
LPT006 Leptin Receptor Deficiency 50 0.667
153
WLF002 Wolf-Hirschhorn Syndrome 57 0.667
154
P LPS004 Lupus Erythematosus 61 0.667
155
LNG111 Lung Non-Squamous Non-Small Cell Carcinoma 56 0.633
156
P LNG021 Lung Occult Small Cell Carcinoma 20 0.633
157
LNG019 Lung Combined Type Small Cell Carcinoma 32 0.633
158
c INH030 Inherited Retinal Disorder 28 0.559
159
GLM044 Glomerular Disease 35 0.559
160
ATX038 Ataxia and Polyneuropathy, Adult-Onset 46 0.559
161
DNT021 Dent Disease 2 37 0.559
162
P AST005 Asthma 76 0.559
163
P MTR004 Maturity-Onset Diabetes of the Young 68 0.559
164
P SCH015 Schizophrenia 74 0.559
165
P OST002 Osteoporosis 76 0.559
166
PPL052 Papillomatosis, Confluent and Reticulated 34 0.559
167
P CLR023 Colorectal Cancer 100 0.559
168
ALC007 Alcohol Dependence 66 0.559
169
VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 42 0.559
170
WDW001 Widow's Peak 28 0.559
171
c FNC027 Fanconi Anemia, Complementation Group a 81 0.559
172
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 57 0.559
173
VTM002 Vitamin B12 Deficiency 48 0.559
174
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 0.559
175
c MCR115 Microvascular Complications of Diabetes 5 65 0.559
176
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 0.559
177
KSH004 Kashin-Beck Disease 38 0.559
178
P PLY014 Polycystic Kidney Disease 69 0.559
179
c LKM061 Leukemia, Acute Myeloid 83 0.559
180
LMY014 Leiomyoma, Uterine 56 0.559
181
RNL065 Renal Cell Carcinoma, Papillary, 1 79 0.559
182
LPT014 Leptin Deficiency or Dysfunction 78 0.559
183
SMT018 Smith-Mccort Dysplasia 2 34 0.559
184
c BRD017 Bardet-Biedl Syndrome 5 38 0.559
185
c HLP022 Holoprosencephaly 8 22 0.559
186
P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 60 0.559
187
MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 65 0.559
188
P SHW006 Shwachman-Diamond Syndrome 1 66 0.559
189
INT088 Intrinsic Factor Deficiency 34 0.559
190
P TTR001 Tetralogy of Fallot 69 0.559
191
OST159 Osteogenic Sarcoma 66 0.559
192
RNL114 Renal Cell Carcinoma, Nonpapillary 80 0.559
193
P HYP750 Hypertriglyceridemia, Familial 62 0.559
194
NPH091 Nephrolithiasis, Calcium Oxalate 61 0.559
196
PLM129 Pulmonary Disease, Chronic Obstructive 74 0.559
197
P MYC007 Myocardial Infarction 70 0.559
198
LMY002 Leiomyoma 51 0.559
199
NPH003 Nephrocalcinosis 49 0.559
200
ACS001 Acoustic Neuroma 56 0.559
201
c ATS347 Autosomal Dominant Polycystic Kidney Disease 66 0.559
202
P AMY004 Amyloidosis 70 0.559
203
P HYP083 Hypopituitarism 52 0.559
204
P NRB001 Neuroblastoma 66 0.559
205
CRV002 Cervix Uteri Carcinoma in Situ 47 0.559
206
CLF001 Cleft Lip 53 0.559
207
CRB209 Cerebellar Malformation 23 0.559
208
P HYP098 Hypereosinophilic Syndrome 66 0.559
209
P ALC033 Alcohol Use Disorder 61 0.559
210
HRT011 Heart Septal Defect 49 0.559
211
BLD131 Bladder Urothelial Carcinoma 60 0.559
212
P CTR002 Cataract 60 0.559
213
LNG099 Lung Disease 62 0.559
214
SMT002 Smooth Muscle Tumor 39 0.559
215
P KDN017 Kidney Cancer 61 0.559
216
NRL005 Neurilemmoma 60 0.559
217
P INS002 in Situ Carcinoma 53 0.559
218
VSC002 Vascular Dementia 60 0.559
219
P NRF002 Neurofibromatosis 57 0.559
220
P HYP265 Hypotonia 42 0.559
221
BNG041 Benign Metastasizing Leiomyoma 29 0.559
222
CRV045 Cervical Intraepithelial Neoplasia 39 0.559
223
CHR176 Chromophil Renal Cell Carcinoma 23 0.559
224
CYS021 Cystic Adenomatoid Malformation of Lung 32 0.559
225
P INH011 Inherited Bone Marrow Failure Syndromes 32 0.559
226
ALL014 Allergic Encephalomyelitis 34 0.559
227
CLN015 Colon Adenocarcinoma 65 0.517
228
c WLM018 Wilms Tumor 5 53 0.401
229
CHR177 Chromophobe Renal Cell Carcinoma 54 0.401
230
P RNL017 Renal Oncocytoma 54 0.401
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