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	autosomal dominant polycystic kidney disease

Disease ID	276
Disease	autosomal dominant polycystic kidney disease
Definition	Kidney disorders with autosomal dominant inheritance and characterized by multiple CYSTS in both KIDNEYS with progressive deterioration of renal function.
Synonym	adpk adpkd adpkd - autosomal dominant polycystic kidney disease adult disease kidney polycystic adult polycystic kidney dis adult polycystic kidney disease apkd autosomal dominant adult polycystic kidney disease autosomal dominant polycystic kidney kidney, polycystic, autosomal dominant kpad polycyst kid-autosom dom polycystic kidney dis autosomal dominant polycystic kidney disease, adult polycystic kidney disease, adult type polycystic kidney disease, adult type (disorder) polycystic kidney disease, autosomal dominant polycystic kidney, autosomal dominant polycystic kidney, autosomal dominant [disease/finding] polycystic kidneys - adult type
DOID	DOID:5937
UMLS	C0085413
MeSH	D016891
SNOMED-CT	SNOMEDCT_US_2016_09_01:28728008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:67) C0020538 \| hypertension \| 22 C0035078 \| renal failure \| 8 C0022658 \| kidney disease \| 8 C0022658 \| renal disease \| 7 C0023895 \| liver disease \| 6 C0158683 \| polycystic liver disease \| 6 C0022661 \| end-stage renal disease \| 5 C0027726 \| nephrotic syndrome \| 5 C0033687 \| proteinuria \| 4 C0392525 \| nephrolithiasis \| 4 C0022661 \| chronic kidney disease \| 4 C0011847 \| diabetes \| 4 C0022679 \| cystic kidney \| 3 C0034186 \| pyelonephritis \| 3 C0007766 \| intracranial aneurysm \| 3 C0007222 \| cardiovascular disease \| 3 C0042373 \| vascular disease \| 3 C0011849 \| diabetes mellitus \| 3 C0007766 \| cranial aneurysm \| 3 C0078981 \| arachnoid cyst \| 2 C0022661 \| end stage renal disease \| 2 C0007766 \| intracranial aneurysms \| 2 C0011570 \| depression \| 2 C0020541 \| portal hypertension \| 2 C0041341 \| tuberous sclerosis \| 2 C0007134 \| renal cell carcinoma \| 2 C0022661 \| end-stage renal failure \| 2 C0022679 \| cystic kidneys \| 2 C0001430 \| adenoma \| 2 C0205650 \| papillary adenoma \| 1 C0022661 \| end stage kidney disease \| 1 C0020428 \| aldosteronism \| 1 C0011860 \| type ii diabetes mellitus \| 1 C0041296 \| mycobacterium tuberculosis infection \| 1 C0003493 \| aortic diseases \| 1 C1384514 \| primary aldosteronism \| 1 C0003493 \| aortic disease \| 1 C0035078 \| kidney failure \| 1 C0042133 \| uterine leiomyoma \| 1 C0001339 \| acute pancreatitis \| 1 C0740394 \| hyperuricemia \| 1 C0018099 \| gout \| 1 C0030305 \| pancreatitis \| 1 C0078981 \| arachnoid cysts \| 1 C0917996 \| cerebral aneurysm \| 1 C0687120 \| medullary cystic disease \| 1 C1561644 \| chronic kidney disease (ckd) \| 1 C0023267 \| leiomyoma \| 1 C0022661 \| chronic renal failure \| 1 C0002726 \| amyloidosis \| 1 C0041341 \| tuberous sclerosis complex \| 1 C0041296 \| tuberculosis \| 1 C0011860 \| type ii diabetes \| 1 C1565489 \| renal insufficiency \| 1 C0011848 \| diabetes insipidus \| 1 C0017668 \| focal segmental glomerulosclerosis \| 1 C0027830 \| neurofibromas \| 1 C0019322 \| umbilical hernia \| 1 C0032000 \| pituitary adenoma \| 1 C0022661 \| end-stage kidney disease \| 1 C0005683 \| bladder stone \| 1 C0008311 \| cholangitis \| 1 C0687720 \| central diabetes insipidus \| 1 C0006267 \| bronchiectasis \| 1 C0158699 \| renal agenesis \| 1 C0235618 \| proliferative glomerulonephritis \| 1 C0017658 \| glomerulonephritis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:8) 4609 \| MYC \| CTD_human 5310 \| PKD1 \| CLINVAR;CTD_human;GHR 5312 \| PKD3 \| CTD_human 5311 \| PKD2 \| CTD_human;GHR 5468 \| PPARG \| CTD_human 23476 \| BRD4 \| CTD_human 203286 \| ANKS6 \| CTD_human 5314 \| PKHD1 \| GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:10) 27122 \| DKK3 \| CIPHER 8516 \| ITGA8 \| CIPHER 4846 \| NOS3 \| CIPHER 5311 \| PKD2 \| CIPHER;CTD_human 5310 \| PKD1 \| CTD_human 5312 \| PKD3 \| CTD_human 23476 \| BRD4 \| CTD_human 5468 \| PPARG \| CTD_human 203286 \| ANKS6 \| CTD_human 4609 \| MYC \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:182) 3983 \| ABLIM1 \| 1.646 \| DISEASES 183 \| AGT \| 2.441 \| DISEASES 55966 \| AJAP1 \| 1.107 \| DISEASES 11214 \| AKAP13 \| 1.323 \| DISEASES 501 \| ALDH7A1 \| 1.228 \| DISEASES 8907 \| AP1M1 \| 2.362 \| DISEASES 392509 \| ARL13A \| 3.394 \| DISEASES 200894 \| ARL13B \| 2.982 \| DISEASES 10093 \| ARPC4 \| 2.004 \| DISEASES 10092 \| ARPC5 \| 1.77 \| DISEASES 50807 \| ASAP1 \| 2.016 \| DISEASES 551 \| AVP \| 2.465 \| DISEASES 554 \| AVPR2 \| 4.248 \| DISEASES 8938 \| BAIAP3 \| 1.783 \| DISEASES 80114 \| BICC1 \| 3.27 \| DISEASES 801 \| CALM1 \| 1.604 \| DISEASES 57524 \| CASKIN1 \| 2.453 \| DISEASES 57545 \| CC2D2A \| 1.046 \| DISEASES 57820 \| CCNB1IP1 \| 1.778 \| DISEASES 899 \| CCNF \| 1.225 \| DISEASES 8697 \| CDC23 \| 1.489 \| DISEASES 1006 \| CDH8 \| 2.336 \| DISEASES 53841 \| CDHR5 \| 1.676 \| DISEASES 10970 \| CKAP4 \| 1.31 \| DISEASES 9685 \| CLINT1 \| 1.141 \| DISEASES 1287 \| COL4A5 \| 1.173 \| DISEASES 55313 \| CPPED1 \| 2.063 \| DISEASES 1385 \| CREB1 \| 2.419 \| DISEASES 1471 \| CST3 \| 1.054 \| DISEASES 1490 \| CTGF \| 1.234 \| DISEASES 1499 \| CTNNB1 \| 3.007 \| DISEASES 1504 \| CTRB1 \| 1.561 \| DISEASES 2017 \| CTTN \| 1.71 \| DISEASES 1523 \| CUX1 \| 2.183 \| DISEASES 192668 \| CYS1 \| 1.936 \| DISEASES 27071 \| DAPP1 \| 1.927 \| DISEASES 1729 \| DIAPH1 \| 1.674 \| DISEASES 23405 \| DICER1 \| 1.205 \| DISEASES 25911 \| DPCD \| 1.919 \| DISEASES 1838 \| DTNB \| 1.536 \| DISEASES 1906 \| EDN1 \| 2.224 \| DISEASES 1910 \| EDNRB \| 1.105 \| DISEASES 1978 \| EIF4EBP1 \| 1.057 \| DISEASES 11336 \| EXOC3 \| 2.611 \| DISEASES 10640 \| EXOC5 \| 3.223 \| DISEASES 2192 \| FBLN1 \| 1.288 \| DISEASES 2200 \| FBN1 \| 1.592 \| DISEASES 80204 \| FBXO11 \| 1.143 \| DISEASES 286151 \| FBXO43 \| 2.838 \| DISEASES 24147 \| FJX1 \| 2.925 \| DISEASES 8880 \| FUBP1 \| 1.001 \| DISEASES 23193 \| GANAB \| 1.766 \| DISEASES 26088 \| GGA1 \| 1.291 \| DISEASES 28964 \| GIT1 \| 1.042 \| DISEASES 2801 \| GOLGA2 \| 1.834 \| DISEASES 2803 \| GOLGA4 \| 1.014 \| DISEASES 26086 \| GPSM1 \| 1.76 \| DISEASES 3029 \| HAGH \| 1.936 \| DISEASES 26762 \| HAVCR1 \| 2.558 \| DISEASES 10456 \| HAX1 \| 1.2 \| DISEASES 10013 \| HDAC6 \| 2.123 \| DISEASES 9734 \| HDAC9 \| 2.528 \| DISEASES 28996 \| HIPK2 \| 1.482 \| DISEASES 3292 \| HSD17B1 \| 1.147 \| DISEASES 3316 \| HSPB2 \| 1.756 \| DISEASES 94086 \| HSPB9 \| 1.873 \| DISEASES 8100 \| IFT88 \| 3.857 \| DISEASES 11009 \| IL24 \| 1.181 \| DISEASES 8516 \| ITGA8 \| 1.26 \| DISEASES 3725 \| JUN \| 1.285 \| DISEASES 9312 \| KCNB2 \| 1.612 \| DISEASES 56660 \| KCNK12 \| 1.848 \| DISEASES 11127 \| KIF3A \| 3.543 \| DISEASES 9371 \| KIF3B \| 2.339 \| DISEASES 9365 \| KL \| 1.458 \| DISEASES 3831 \| KLC1 \| 2.116 \| DISEASES 7044 \| LEFTY2 \| 1.734 \| DISEASES 3980 \| LIG3 \| 2.633 \| DISEASES 3984 \| LIMK1 \| 1.73 \| DISEASES 119180 \| LYZL2 \| 2.389 \| DISEASES 5609 \| MAP2K7 \| 2.808 \| DISEASES 225689 \| MAPK15 \| 1.787 \| DISEASES 5599 \| MAPK8 \| 1.552 \| DISEASES 9261 \| MAPKAPK2 \| 1.452 \| DISEASES 7867 \| MAPKAPK3 \| 1.129 \| DISEASES 10724 \| MGEA5 \| 1.372 \| DISEASES 4318 \| MMP9 \| 1.437 \| DISEASES 22921 \| MSRB2 \| 1.361 \| DISEASES 253827 \| MSRB3 \| 1.469 \| DISEASES 9107 \| MTMR6 \| 1.903 \| DISEASES 2475 \| MTOR \| 3.849 \| DISEASES 4609 \| MYC \| 2.566 \| DISEASES 4615 \| MYD88 \| 1.122 \| DISEASES 10763 \| NES \| 1.18 \| DISEASES 29922 \| NME7 \| 1.561 \| DISEASES 27031 \| NPHP3 \| 1.789 \| DISEASES 261734 \| NPHP4 \| 1.525 \| DISEASES 3164 \| NR4A1 \| 1.557 \| DISEASES 51559 \| NT5DC3 \| 1.715 \| DISEASES 51667 \| NUB1 \| 1.256 \| DISEASES 11247 \| NXPH4 \| 1.948 \| DISEASES 100506658 \| OCLN \| 1.007 \| DISEASES 8481 \| OFD1 \| 1.595 \| DISEASES 5016 \| OVGP1 \| 1.108 \| DISEASES 5027 \| P2RX7 \| 1.525 \| DISEASES 5034 \| P4HB \| 1.154 \| DISEASES 23241 \| PACS2 \| 1.789 \| DISEASES 10298 \| PAK4 \| 1.937 \| DISEASES 5076 \| PAX2 \| 2.839 \| DISEASES 5136 \| PDE1A \| 2.358 \| DISEASES 5137 \| PDE1C \| 1.277 \| DISEASES 56034 \| PDGFC \| 1.217 \| DISEASES 5164 \| PDK2 \| 2.108 \| DISEASES 10611 \| PDLIM5 \| 1.867 \| DISEASES 283871 \| PGP \| 3.253 \| DISEASES 51533 \| PHF7 \| 3.578 \| DISEASES 114780 \| PKD1L2 \| 3.69 \| DISEASES 9033 \| PKD2L1 \| 5.775 \| DISEASES 5314 \| PKHD1 \| 4.697 \| DISEASES 5336 \| PLCG2 \| 1.04 \| DISEASES 132160 \| PPM1M \| 2.946 \| DISEASES 5501 \| PPP1CC \| 1.679 \| DISEASES 5520 \| PPP2R2A \| 1 \| DISEASES 5578 \| PRKCA \| 1.916 \| DISEASES 5587 \| PRKD1 \| 8.115 \| DISEASES 5783 \| PTPN13 \| 1.341 \| DISEASES 5867 \| RAB4A \| 2.079 \| DISEASES 6000 \| RGS7 \| 1.351 \| DISEASES 387 \| RHOA \| 2.46 \| DISEASES 6122 \| RPL3 \| 1.234 \| DISEASES 6195 \| RPS6KA1 \| 2.22 \| DISEASES 6196 \| RPS6KA2 \| 2.138 \| DISEASES 6197 \| RPS6KA3 \| 1.824 \| DISEASES 3921 \| RPSA \| 1.58 \| DISEASES 860 \| RUNX2 \| 2.353 \| DISEASES 22872 \| SEC31A \| 1.814 \| DISEASES 11231 \| SEC63 \| 4.51 \| DISEASES 6424 \| SFRP4 \| 1.062 \| DISEASES 6446 \| SGK1 \| 2.175 \| DISEASES 6477 \| SIAH1 \| 1.398 \| DISEASES 8778 \| SIGLEC5 \| 1.373 \| DISEASES 220963 \| SLC16A9 \| 1.517 \| DISEASES 10786 \| SLC17A3 \| 1.332 \| DISEASES 10050 \| SLC17A4 \| 2.219 \| DISEASES 6569 \| SLC34A1 \| 1.065 \| DISEASES 56916 \| SMARCAD1 \| 1.68 \| DISEASES 56950 \| SMYD2 \| 1.035 \| DISEASES 26206 \| SPAG8 \| 2.149 \| DISEASES 286234 \| SPATA31E1 \| 3.578 \| DISEASES 6696 \| SPP1 \| 1.174 \| DISEASES 6714 \| SRC \| 2.437 \| DISEASES 6753 \| SSTR3 \| 1.297 \| DISEASES 8027 \| STAM \| 2.264 \| DISEASES 10607 \| TBL3 \| 2.389 \| DISEASES 79600 \| TCTN1 \| 1.667 \| DISEASES 55714 \| TENM3 \| 1.068 \| DISEASES 23670 \| TMEM2 \| 1.79 \| DISEASES 51259 \| TMEM216 \| 1.399 \| DISEASES 57393 \| TMEM27 \| 1.983 \| DISEASES 81542 \| TMX1 \| 1.21 \| DISEASES 7124 \| TNF \| 1.158 \| DISEASES 27327 \| TNRC6A \| 2.126 \| DISEASES 27010 \| TPK1 \| 1.439 \| DISEASES 7222 \| TRPC3 \| 2.516 \| DISEASES 7223 \| TRPC4 \| 2.269 \| DISEASES 7225 \| TRPC6 \| 1.626 \| DISEASES 4308 \| TRPM1 \| 1.944 \| DISEASES 80036 \| TRPM3 \| 2.088 \| DISEASES 140803 \| TRPM6 \| 1.44 \| DISEASES 7442 \| TRPV1 \| 1.427 \| DISEASES 51393 \| TRPV2 \| 1.789 \| DISEASES 10078 \| TSSC4 \| 2.454 \| DISEASES 83983 \| TSSK6 \| 2.065 \| DISEASES 254173 \| TTLL10 \| 1.977 \| DISEASES 9218 \| VAPA \| 1.077 \| DISEASES 7422 \| VEGFA \| 1.881 \| DISEASES 10490 \| VTI1B \| 1.375 \| DISEASES 124997 \| WDR81 \| 1.747 \| DISEASES 25937 \| WWTR1 \| 1.819 \| DISEASES 7514 \| XPO1 \| 1.68 \| DISEASES 7718 \| ZNF165 \| 1.493 \| DISEASES 7784 \| ZP3 \| 2.209 \| DISEASES
Locus	(Waiting for update.)

Disease ID	276
Disease	autosomal dominant polycystic kidney disease
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:67) HP:0000822 \| Hypertension \| 26 HP:0000107 \| Renal cyst \| 12 HP:0003774 \| End-stage renal failure \| 11 HP:0012531 \| Pain \| 11 HP:0000083 \| Renal insufficiency \| 9 HP:0002617 \| Aneurysmal dilatation \| 9 HP:0000787 \| Renal calculi \| 8 HP:0001407 \| Hepatic cysts \| 6 HP:0006706 \| Cystic liver disease \| 6 HP:0006557 \| Polycystic liver disease \| 6 HP:0004944 \| Cerebral artery aneurysm \| 5 HP:0000093 \| Proteinuria \| 5 HP:0000100 \| Nephrosis \| 5 HP:0012622 \| Chronic kidney disease \| 4 HP:0012532 \| Chronic pain \| 3 HP:0012330 \| Pyelonephritis \| 3 HP:0000113 \| Polycystic kidney dysplasia \| 3 HP:0000819 \| Diabetes mellitus \| 3 HP:0002647 \| Aortic dissection \| 2 HP:0030731 \| Carcinoma \| 2 HP:0001409 \| Portal hypertension \| 2 HP:0000716 \| Depression \| 2 HP:0002253 \| Colonic diverticulosis \| 2 HP:0100702 \| Arachnoid cyst \| 2 HP:0000105 \| Renal enlargement \| 2 HP:0005584 \| Renal cell carcinoma \| 2 HP:0005562 \| Multiple renal cysts \| 1 HP:0000125 \| Pelvic kidney \| 1 HP:0001714 \| Ventricular hypertrophy \| 1 HP:0001733 \| Pancreatic inflammation \| 1 HP:0030157 \| Flank pain \| 1 HP:0030151 \| Cholangitis \| 1 HP:0010474 \| Bladder stones \| 1 HP:0100790 \| Hernia \| 1 HP:0002190 \| Choroid plexus cyst \| 1 HP:0009726 \| Renal neoplasm \| 1 HP:0000104 \| Renal agenesis \| 1 HP:0000718 \| Aggressive behaviour \| 1 HP:0000097 \| focal glomerulosclerosis \| 1 HP:0005294 \| Arterial dissection \| 1 HP:0001735 \| Acute pancreatitis \| 1 HP:0011034 \| Amyloid disease \| 1 HP:0002893 \| Pituitary adenoma \| 1 HP:0002664 \| Neoplasia \| 1 HP:0002170 \| Intracranial hemorrhage \| 1 HP:0100806 \| Sepsis \| 1 HP:0000863 \| Neurohypophyseal diabetes insipidus \| 1 HP:0002027 \| Abdominal pain \| 1 HP:0002315 \| Headaches \| 1 HP:0001712 \| Left ventricular hypertrophy \| 1 HP:0001067 \| Neurofibromas \| 1 HP:0012735 \| Coughing \| 1 HP:0000010 \| Frequent urinary tract infections \| 1 HP:0001997 \| Gout \| 1 HP:0100033 \| Tic disorder \| 1 HP:0000873 \| Diabetes insipidus \| 1 HP:0002148 \| Hypophosphataemia \| 1 HP:0003418 \| Back pain \| 1 HP:0001709 \| Complete heart block \| 1 HP:0002149 \| Hyperuricemia \| 1 HP:0000131 \| Uterine leiomyoma \| 1 HP:0002110 \| Bronchiectasis \| 1 HP:0012722 \| Heart block \| 1 HP:0000099 \| Glomerular nephritis \| 1 HP:0001537 \| Umbilical hernias \| 1 HP:0005978 \| Noninsulin dependent diabetes mellitus \| 1 HP:0100749 \| Thoracic pain \| 1

Disease ID	276
Disease	autosomal dominant polycystic kidney disease
Manually Symptom	UMLS \| Name(Total Manually Symptoms:77) C2713497 \| saccular aneurysms C2707258 \| infections C2364133 \| infection C2173677 \| renal cyst C2046121 \| aortic dissection C2020637 \| chronic pain C1963154 \| renal failure C1963138 \| hypertension C1962972 \| proteinuria C1962958 \| hematoma C1866130 \| rhombencephalosynapsis C1565489 \| renal insufficiency C1561644 \| chronic kidney disease (ckd) C1384514 \| primary aldosteronism C1306837 \| papillary renal cell carcinoma C1257797 \| bile duct cysts C1253937 \| pericardial effusion C1142249 \| infected cyst C0948141 \| hepatic cyst infection C0917996 \| cerebral aneurysms C0856761 \| hepatic venous outflow obstruction C0856761 \| budd-chiari syndrome C0856169 \| endothelial dysfunction C0742472 \| cns lymphoma C0742472 \| central nervous system lymphoma C0730345 \| microalbuminuria C0729233 \| dissecting thoracic aortic aneurysm C0521533 \| atrial septal aneurysm C0403447 \| chronic renal insufficiency C0403447 \| chronic kidney disease C0403383 \| renal cyst infection C0403383 \| infected renal cyst C0392525 \| nephrolithiasis C0341266 \| duodenal diverticulosis C0334054 \| cystic disease C0275927 \| tuberculous pyelonephritis C0268838 \| pyocystis C0267834 \| hepatic cysts C0265072 \| inferior vena cava syndrome C0243050 \| cardiovascular abnormalities C0232306 \| left ventricular hypertrophy C0206667 \| adrenal adenoma C0175695 \| sotos syndrome C0078981 \| arachnoid cyst C0034065 \| pulmonary embolism C0030283 \| pancreatic cysts C0030283 \| pancreatic cyst C0029927 \| ovarian cysts C0027726 \| nephrotic syndrome C0024305 \| non-hodgkin's lymphoma C0022665 \| renal neoplasms C0022661 \| end-stage renal failure C0022661 \| end-stage renal disease C0022661 \| end stage renal disease C0022661 \| chronic renal failure C0022658 \| renal disease C0021843 \| intestinal obstruction C0021359 \| infertility C0021313 \| renal infection C0020541 \| portal hypertension C0020437 \| hypercalcemia C0020428 \| hyperaldosteronism C0020295 \| hydronephrosis C0019270 \| hernia C0019080 \| hemorrhage C0018802 \| congestive heart failure C0017665 \| membranous glomerulonephritis C0015469 \| facial nerve palsy C0012819 \| colonic diverticular disease C0010051 \| coronary aneurysms C0007766 \| intracranial aneurysms C0007766 \| intracranial aneurysm C0007134 \| renal cell carcinoma C0006267 \| bronchiectasis C0006111 \| brain disorders C0002949 \| arterial dissection C0002940 \| aneurysm
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:30) C0020538 \| hypertension \| 14 C0009450 \| infection \| 12 C0022679 \| renal cyst \| 10 C0022658 \| renal disease \| 5 C0022661 \| end-stage renal disease \| 4 C0392525 \| nephrolithiasis \| 4 C0035078 \| renal failure \| 3 C0334054 \| cystic disease \| 3 C0027726 \| nephrotic syndrome \| 3 C0948141 \| hepatic cyst infection \| 3 C0078981 \| arachnoid cyst \| 2 C0403383 \| renal cyst infection \| 2 C0150055 \| chronic pain \| 2 C0020541 \| portal hypertension \| 2 C0002940 \| aneurysm \| 2 C0267834 \| hepatic cysts \| 2 C0007134 \| renal cell carcinoma \| 2 C0856169 \| endothelial dysfunction \| 2 C0007766 \| intracranial aneurysms \| 1 C0340643 \| aortic dissection \| 1 C0002949 \| arterial dissection \| 1 C0022661 \| chronic kidney disease \| 1 C1384514 \| primary aldosteronism \| 1 C0022665 \| renal neoplasms \| 1 C0022661 \| end stage renal disease \| 1 C0007766 \| intracranial aneurysm \| 1 C0022661 \| end-stage renal failure \| 1 C0006267 \| bronchiectasis \| 1 C0019270 \| hernia \| 1 C0019080 \| hemorrhage \| 1

Manually Genotype(Total Manually Genotypes:1)
Gene	Mutation	DOI	Article Title
PKD1	chr16:g.2144128C>T, heterozygous;NM_001009944.2, NP_001009944.2;c.10583G>A, p.(Trp3528*)	doi:10.1038/gim.2016.1	A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:16)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs148812376	NA	5310	PKD1	umls:C0085413	CLINVAR	NA	0.346886184	NA	PKD1	16	2099955	G	A
rs1799983	18815450	4846	NOS3	umls:C0085413	BeFree	Modifier effect of the Glu298Asp polymorphism of endothelial nitric oxide synthase gene in autosomal-dominant polycystic kidney disease.	0.007805801	2008	NOS3	7	150999023	T	G
rs1799983	12500225	4846	NOS3	umls:C0085413	BeFree	Previously, a glutamic acid to aspartic acid polymorphism at residue 298 (E/D298) of the endothelial nitric oxide synthase (eNOS) gene ENOS was associated with disease severity in males with ADPKD.	0.007805801	2003	NOS3	7	150999023	T	G
rs199476094	NA	5310	PKD1	umls:C0085413	CLINVAR	NA	0.346886184	NA	PKD1;MIR1225;LOC105371049	16	2090688	G	A
rs199476095	NA	5310	PKD1	umls:C0085413	CLINVAR	NA	0.346886184	NA	PKD1;MIR1225;LOC105371049	16	2089957	G	A
rs199476096	NA	5310	PKD1	umls:C0085413	CLINVAR	NA	0.346886184	NA	PKD1;MIR1225;LOC105371049	16	2091806	G	A
rs199476097	NA	5310	PKD1	umls:C0085413	CLINVAR	NA	0.346886184	NA	PKD1;MIR1225;LOC105371049	16	2090468	A	T
rs199476098	NA	5310	PKD1	umls:C0085413	CLINVAR	NA	0.346886184	NA	PKD1;MIR1225;LOC105371049	16	2091861	G	T
rs199476099	NA	5310	PKD1	umls:C0085413	CLINVAR	NA	0.346886184	NA	PKD1	16	2118021	C	T,A
rs199476100	NA	5310	PKD1	umls:C0085413	CLINVAR	NA	0.346886184	NA	PKD1	16	2114489	A	G
rs199476101	NA	5310	PKD1	umls:C0085413	CLINVAR	NA	0.346886184	NA	PKD1	16	2109403	G	A
rs199476102	NA	5310	PKD1	umls:C0085413	CLINVAR	NA	0.346886184	NA	PKD1;MIR1225;LOC105371049	16	2090309	C	T
rs4961	13679477	118	ADD1	umls:C0085413	BeFree	Influence of ACE (I/D) and G460W polymorphism of alpha-adducin in autosomal dominant polycystic kidney disease.	0.000542884	2003	ADD1	4	2904980	G	T
rs4961	13679477	1636	ACE	umls:C0085413	BeFree	Influence of ACE (I/D) and G460W polymorphism of alpha-adducin in autosomal dominant polycystic kidney disease.	0.013897074	2003	ADD1	4	2904980	G	T
rs58598099	17048214	5310	PKD1	umls:C0085413	BeFree	The kidney volumes and the number and size of renal and hepatic cysts were markedly less in a member of this family with ADPKD (PKD1 mutation C508R) and CF (homozygous DeltaF508 mutation) than in her sister with ADPKD alone at comparable ages.	0.346886184	2006	PKD1	16	2116917	A	G
rs796052133	NA	5310	PKD1	umls:C0085413	CLINVAR	NA	0.346886184	NA	PKD1	16	2118760	G	-

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	276
Disease	autosomal dominant polycystic kidney disease
Case	(Waiting for update.)

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