Search results for pkd2

262 hits were found for pkd2

# Family MCID Name MIFTS Score
1
c PLY172 Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 53 90.240
2
c ATS347 Autosomal Dominant Polycystic Kidney Disease 66 76.409
3
P PLY014 Polycystic Kidney Disease 69 64.940
4
P PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 65 49.884
5
P KDN018 Kidney Disease 72 44.450
6
PLY023 Polycystic Liver Disease 60 29.750
7
c CHR684 Chronic Kidney Disease 69 27.939
8
c PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 63 25.131
9
P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 59 23.877
10
P CYS039 Cystic Kidney Disease 53 21.749
11
END086 End Stage Renal Disease 52 20.316
12
c HYP595 Hypertension, Essential 85 20.198
13
P LVR013 Liver Disease 69 16.875
14
P NPH005 Nephronophthisis 56 12.386
15
c DLT002 Dilated Cardiomyopathy 78 12.031
16
c JBR011 Joubert Syndrome 7 46 11.314
17
P JBR020 Joubert Syndrome 1 74 10.767
18
P VSC013 Visceral Heterotaxy 53 9.979
19
MLT084 Multicystic Dysplastic Kidney 42 9.165
20
P ORT004 Orthostatic Intolerance 63 8.461
21
HYD005 Hydrocele 46 8.428
22
P BRD002 Bardet-Biedl Syndrome 66 8.261
23
c NPH030 Nephronophthisis 2 49 8.023
24
P CNT116 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 54 7.693
25
P PRM011 Primary Ciliary Dyskinesia 69 7.494
26
c MCL013 Mucolipidosis Iv 65 7.494
27
P RTN008 Retinitis Pigmentosa 80 7.494
28
CRL004 Caroli Disease 45 7.494
29
P MCK013 Meckel Syndrome, Type 1 64 6.966
30
ATS009 Autosomal Genetic Disease 25 6.966
31
ASP005 Asphyxiating Thoracic Dystrophy 47 6.966
32
FND002 Fundus Dystrophy 55 6.966
33
CRB031 Cerebral Arterial Disease 33 6.966
34
KRT010 Kartagener Syndrome 49 6.966
35
PRS014 Prostatic Cyst 19 6.966
36
P PNC035 Pancreatic Cancer 86 4.082
37
ANR040 Aneurysm 61 3.763
38
CLP005 Ciliopathy 41 3.626
39
P URN019 Urinary Tract Infection 49 3.330
40
PRT251 Proteinuria, Chronic Benign 57 3.162
41
P GST053 Gastric Cancer 83 3.080
42
GST040 Gastric Adenocarcinoma 67 3.080
43
P HYD006 Hydrocephalus 61 3.080
44
RNL077 Renal Fibrosis 46 2.872
45
P INF032 Infertility 57 2.797
46
STS002 Situs Inversus 45 2.797
47
ORL015 Oral Squamous Cell Carcinoma 43 2.589
48
HLX001 Helix Syndrome 48 2.589
49
SQM006 Squamous Cell Carcinoma 60 2.589
50
CRB086 Cerebral Aneurysms 40 2.589
51
EPD052 Epidermolysis Bullosa Simplex Superficialis 17 2.514
52
HMN044 Human Immunodeficiency Virus Type 1 78 2.436
53
P SCL048 Sclerosteosis 58 2.354
54
INT030 Intracranial Aneurysm 55 2.304
55
DXT001 Dextrocardia 55 2.269
56
GT001 Gout 64 2.269
57
c ACT068 Acute Cystitis 61 2.269
58
DXT002 Dextrocardia with Situs Inversus 43 2.269
59
P TBR001 Tuberous Sclerosis 69 2.243
60
P BRS047 Breast Cancer 98 2.188
61
P FML011 Familial Adenomatous Polyposis 71 2.178
62
c HTR020 Heterotaxy, Visceral, 8, Autosomal 23 2.178
63
HRW001 Hair Whorl 35 2.178
64
CHL065 Cholangiocarcinoma 58 2.178
65
P LNG064 Lung Cancer Susceptibility 3 70 2.178
66
P ADN016 Adenocarcinoma 63 2.178
67
INT079 Intrahepatic Cholangiocarcinoma 51 2.178
68
c TBR025 Tuberous Sclerosis 1 84 2.115
69
THY020 Thyroid Hyalinizing Trabecular Adenoma 20 2.081
70
PLY012 Polyhydramnios 46 1.978
71
CRC006 Carcinoid Syndrome 55 1.978
72
GLL048 Glial Tumor 52 1.906
73
GLM045 Glioma 63 1.906
74
HYP014 Hyperuricemia 51 1.865
75
SPL018 Splenomegaly 49 1.831
76
ART074 Aortic Dissection 53 1.740
77
ANG060 Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps 44 1.740
78
DNT012 Dental Caries 53 1.740
79
ISC004 Ischemia 61 1.740
80
PLY150 Polykaryocytosis Inducer 29 1.672
81
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 1.672
82
P INF037 Inflammatory Bowel Disease 53 1.672
83
CLT003 Colitis 63 1.672
84
P MTR004 Maturity-Onset Diabetes of the Young 68 1.598
85
VNH007 Von Hippel-Lindau Syndrome 73 1.586
86
ARG004 Argyria 26 1.586
87
P ATS364 Autism 69 1.495
88
AGN016 Aging 54 1.495
89
c ATS007 Autism Spectrum Disorder 72 1.495
90
RPD005 Rapidly Involuting Congenital Hemangioma 46 1.495
91
P VSC007 Vascular Disease 63 1.495
92
c JBR018 Joubert Syndrome 4 52 1.463
93
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 80 1.430
94
GLB002 Glioblastoma 67 1.399
95
P RNL015 Renal Hypertension 45 1.399
96
P TRC031 Trichorhinophalangeal Syndrome 38 1.399
97
P BLD134 Bladder Cancer 79 1.295
98
c ATR087 Atrial Standstill 1 74 1.295
99
ATR057 Atrioventricular Block 54 1.295
100
HLC007 Helicobacter Pylori Infection 67 1.295
101
c NPH019 Nephronophthisis 1 52 1.295
102
P BRN022 Bronchiectasis 60 1.295
103
CHL004 Cholelithiasis 49 1.211
104
P LNG032 Lung Cancer 98 1.182
105
P PRS040 Prostate Cancer 95 1.182
106
c SML038 Small Cell Cancer of the Lung 69 1.182
107
RNL114 Renal Cell Carcinoma, Nonpapillary 80 1.182
108
P HPT023 Hepatocellular Carcinoma 96 1.182
109
APP008 Appendicitis 62 1.182
110
P MLN007 Male Infertility 56 1.182
111
c LKM063 Leukemia, Chronic Myeloid 71 1.057
112
HYP025 Hyperphosphatemia 48 1.057
113
c NPH032 Nephronophthisis 4 46 1.057
114
P MYL006 Myeloid Leukemia 61 1.057
115
NPH009 Nephrolithiasis 54 1.057
116
c PRC016 Pre-Eclampsia 65 1.057
117
OLG003 Oligohydramnios 51 1.057
118
P HYP265 Hypotonia 42 1.057
119
PLY100 Polyploidy 36 0.916
120
c ORF037 Orofaciodigital Syndrome I 59 0.916
121
P OVR042 Ovarian Cancer 88 0.916
122
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 59 0.916
123
P HYP761 Hypouricemia, Renal, 1 44 0.916
124
URL001 Urolithiasis 46 0.916
125
c FNC042 Fanconi Anemia, Complementation Group D2 54 0.916
126
c NPH031 Nephronophthisis 3 46 0.916
127
P LFT003 Left Ventricular Noncompaction 57 0.916
128
HRT012 Heart Valve Disease 53 0.916
129
P RTN016 Retinal Degeneration 52 0.916
130
ING001 Inguinal Hernia 59 0.916
131
c BRD010 Bardet-Biedl Syndrome 1 64 0.748
132
HTT002 Hutterite Cerebroosteonephrodysplasia Syndrome 25 0.748
133
c JVN041 Juvenile Nephronophthisis 43 0.748
134
PLM134 Pulmonary Fibrosis, Idiopathic 76 0.748
135
c PLY171 Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease 43 0.748
136
CYS001 Cystic Fibrosis 78 0.748
137
P LTH003 Lethal Congenital Contracture Syndrome 41 0.748
138
RNL051 Renal Cysts and Diabetes Syndrome 57 0.748
139
c BRD018 Bardet-Biedl Syndrome 6 49 0.748
140
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 0.748
141
c PLY175 Polycystic Liver Disease 4 with or Without Kidney Cysts 19 0.748
142
P RNL100 Renal Hypodysplasia/aplasia 1 63 0.748
143
c BRD014 Bardet-Biedl Syndrome 2 53 0.748
144
c PLY173 Polycystic Liver Disease 2 with or Without Kidney Cysts 23 0.748
145
RNL078 Renal Dysplasia 46 0.748
146
P NRB001 Neuroblastoma 66 0.748
147
17Q009 17q12 Recurrent Deletion Syndrome 18 0.748
148
P PLM036 Pulmonary Fibrosis 66 0.748
149
PLC005 Placental Insufficiency 56 0.748
150
P ORF001 Orofaciodigital Syndrome 50 0.748
151
LNG099 Lung Disease 62 0.748
152
c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 26 0.748
153
c ACT027 Acute Pancreatitis 60 0.748
154
P NPH012 Nephrotic Syndrome 60 0.748
155
P PNC044 Pancreatitis 61 0.748
156
P PRM002 Primary Hyperoxaluria 65 0.748
157
P KDN017 Kidney Cancer 61 0.748
158
AZS001 Azoospermia 45 0.748
159
P NRF002 Neurofibromatosis 57 0.748
160
HYP266 Hypoxia 57 0.748
161
P CNG048 Congenital Hepatic Fibrosis 36 0.748
162
P ATS382 Autosomal Dominant Tubulointerstitial Kidney Disease 34 0.748
163
CNG506 Congenital Amyoplasia 27 0.727
164
c ART144 Arthrogryposis, Distal, Type 1a 60 0.727
165
P DST002 Distal Arthrogryposis 65 0.727
166
ALK024 Alkuraya-Kucinskas Syndrome 45 0.727
168
THR123 Thrombotic Microangiopathy 40 0.529
169
P MCH002 Machado-Joseph Disease 62 0.529
170
c OTP006 Otopalatodigital Syndrome, Type I 60 0.529
171
ATX038 Ataxia and Polyneuropathy, Adult-Onset 46 0.529
172
P WSK001 Wiskott-Aldrich Syndrome 72 0.529
173
CRN296 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 64 0.529
174
c NPH049 Nephrotic Syndrome, Type 2 51 0.529
175
MLL021 Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 31 0.529
176
PLY116 Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis 24 0.529
177
c LYM145 Lymphatic Malformation 5 48 0.529
178
MRF001 Marfan Syndrome 76 0.529
179
P LKM071 Leukemia, Chronic Lymphocytic 75 0.529
180
CLF027 Cleft Palate, Isolated 64 0.529
181
FLT006 Floating-Harbor Syndrome 52 0.529
182
HJD001 Hajdu-Cheney Syndrome 62 0.529
183
P BCK002 Beckwith-Wiedemann Syndrome 62 0.529
184
P ZNC008 Zinc Finger Protein 1 23 0.529
185
CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 61 0.529
186
P PLM037 Pulmonary Hypertension 72 0.529
187
c MCR115 Microvascular Complications of Diabetes 5 65 0.529
188
c MCR130 Microvascular Complications of Diabetes 6 41 0.529
189
c JBR028 Joubert Syndrome 13 41 0.529
190
c NPH035 Nephronophthisis 9 44 0.529
191
RNL025 Renal Hypoplasia 41 0.529
192
P MCL001 Mucolipidosis 49 0.529
193
P ATR011 Atrial Fibrillation 66 0.529
194
BNR002 Bone Resorption Disease 47 0.529
195
SPN221 Spina Bifida Occulta 40 0.529
196
P CRN323 Cranioectodermal Dysplasia 58 0.529
197
NRL016 Neural Tube Defects 81 0.529
198
P CRB048 Cerebral Cavernous Malformations 63 0.529
199
c CRB191 Cerebral Cavernous Malformations 2 45 0.529
200
RNL065 Renal Cell Carcinoma, Papillary, 1 79 0.529
201
c CRB094 Cerebral Cavernous Malformations 3 41 0.529
202
P PLY006 Polydactyly 59 0.529
203
XGB001 Xia-Gibbs Syndrome 44 0.529
204
c NPH074 Nephrotic Syndrome, Type 9 24 0.529
205
c HPT073 Hepatitis C Virus 71 0.529
206
c MCR120 Microvascular Complications of Diabetes 7 47 0.529
207
CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 68 0.529
208
DWN001 Down Syndrome 70 0.529
209
DNY001 Denys-Drash Syndrome 57 0.529
210
c NPH055 Nephrotic Syndrome, Type 1 52 0.529
211
c NPH047 Nephrotic Syndrome, Type 4 31 0.529
212
CHR619 Chromosome 2q35 Duplication Syndrome 64 0.529
213
P RTN024 Retinoblastoma 73 0.529
214
P STR020 Strabismus 56 0.529
215
P HNT016 Huntington Disease 73 0.529
216
NRR001 Neuroretinitis 42 0.529
217
P AMY004 Amyloidosis 70 0.529
218
URT010 Ureteral Obstruction 45 0.529
219
RTN023 Retinitis 46 0.529
220
MCH006 Mechanical Strabismus 40 0.529
221
PST092 Posttransplant Acute Limbic Encephalitis 28 0.529
222
47X002 47,xyy 48 0.529
223
P PTT006 Pituitary Adenoma 55 0.529
224
c HPT001 Hepatitis C 62 0.529
225
ANG018 Angiomyolipoma 46 0.529
226
P FBR017 Fibrosarcoma 56 0.529
227
P LYN001 Lynch Syndrome 76 0.529
228
P GRW001 Growth Hormone Secreting Pituitary Adenoma 47 0.529
229
ADN018 Adenoma 59 0.529
230
HYP005 Hypokalemia 55 0.529
231
P INT070 Intestinal Obstruction 57 0.529
232
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 50 0.529
233
c MCR113 Microvascular Complications of Diabetes 3 52 0.529
234
c MCR133 Microvascular Complications of Diabetes 4 41 0.529
235
P LKM002 Leukemia 67 0.529
236
P FCL005 Focal Segmental Glomerulosclerosis 57 0.529
237
ACR007 Acromegaly 70 0.529
238
P RNL007 Renal Tubular Acidosis 50 0.529
239
RTN020 Retinal Vascular Disease 46 0.529
240
P HPT021 Hepatitis 69 0.529
241
HYD002 Hydronephrosis 58 0.529
242
PRT013 Portal Hypertension 59 0.529
243
P ALP004 Alport Syndrome 69 0.529
244
P CHN059 Chondrocalcinosis 52 0.529
245
MCL006 Macular Retinal Edema 57 0.529
246
LVR012 Liver Cirrhosis 63 0.529
247
P RTN018 Retinal Disease 53 0.529
248
LPD008 Lipid Metabolism Disorder 62 0.529
249
c FML015 Familial Nephrotic Syndrome 48 0.529
250
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.529
251
PTN001 Patent Foramen Ovale 62 0.529
252
CHL068 Cholestasis 61 0.529
253
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 0.529
254
RNL011 Renal Osteodystrophy 49 0.529
255
HTR003 Heterotaxy 43 0.529
256
P MYT002 Myotonic Dystrophy 51 0.529
257
STM007 Stomatitis 54 0.529
258
P SCK005 Sickle Cell Disease 56 0.529
259
CVR010 Cavernous Malformation 30 0.529
260
CHR176 Chromophil Renal Cell Carcinoma 23 0.529
261
P DST107 Distal Renal Tubular Acidosis 48 0.529
262
CHR249 Chromosome 4q Deletion 13 0.529
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