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	neurofibromatosis

Disease ID	1544
Disease	neurofibromatosis
Definition	Tumor suppressor genes located on the long arm of human chromosome 17 in the region 17q11.2. Mutation of these genes is thought to cause NEUROFIBROMATOSIS 1, Watson syndrome, and LEOPARD syndrome.
Synonym	gene, nf 1 gene, nf1 genes neurofibromatosis 01 genes nf 01 genes, neurofibromatosis 1 genes, nf 1 genes, nf1 neurofibromatosis 1 gene neurofibromatosis 1 genes neurofibromatosis a 01 genes neurofibromatosis type 1 gene neurofibromin 1 (neurofibromatosis, von recklinghausen disease, watson disease) gene nf 1 gene nf 1 genes nf genes 01 nf1 gene nf1 genes watson disease
DOID	DOID:8712
UMLS	C0085113
MeSH	D016514
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:193) C0027830 \| neurofibromas \| 27 C0751690 \| malignant peripheral nerve sheath tumor \| 19 C0027830 \| neurofibroma \| 18 C0027859 \| vestibular schwannoma \| 17 C0206728 \| plexiform neurofibroma \| 14 C0027809 \| schwannoma \| 12 C0027859 \| vestibular schwannomas \| 10 C0031511 \| pheochromocytoma \| 10 C0206728 \| plexiform neurofibromas \| 8 C0879615 \| stromal tumor \| 8 C0238198 \| gastrointestinal stromal tumor \| 7 C0026654 \| moyamoya \| 7 C0017601 \| glaucoma \| 6 C0085113 \| neurofibromatosis \| 6 C0025299 \| meningocele \| 6 C0006142 \| breast cancer \| 6 C0025286 \| meningiomas \| 5 C0036439 \| scoliosis \| 4 C0238198 \| gastrointestinal stromal tumors \| 4 C0026654 \| moyamoya syndrome \| 4 C0020538 \| hypertension \| 4 C0017075 \| ganglioneuroma \| 4 C0026654 \| moyamoya disease \| 3 C0017653 \| glomus tumor \| 3 C1261473 \| sarcoma \| 3 C0027766 \| nervous system tumors \| 3 C0018552 \| hamartoma \| 3 C0024299 \| lymphoma \| 3 C0020302 \| congenital glaucoma \| 3 C0028326 \| noonan syndrome \| 2 C0346326 \| optic nerve glioma \| 2 C0206754 \| neuroendocrine tumor \| 2 C0238033 \| male breast cancer \| 2 C0004114 \| astrocytoma \| 2 C0679466 \| cognitive deficits \| 2 C0023418 \| leukemia \| 2 C0879615 \| stromal tumour \| 2 C0037317 \| sleep disturbance \| 2 C0025286 \| meningioma \| 2 C0022821 \| kyphosis \| 2 C0043324 \| juvenile xanthogranuloma \| 2 C0014544 \| epilepsy \| 2 C1619734 \| pulmonary arterial hypertension \| 2 C0017653 \| glomus tumors \| 2 C0017636 \| glioblastoma \| 2 C0007113 \| rectal cancer \| 1 C0014544 \| epileptic seizures \| 1 C0039538 \| teratoma \| 1 C0376480 \| gingival enlargement \| 1 C0206696 \| signet ring cell carcinoma \| 1 C0018418 \| gynecomastia \| 1 C0037661 \| somatostatinomas \| 1 C0016045 \| fibromas \| 1 C0022354 \| obstructive jaundice \| 1 C0020255 \| hydrocephalus \| 1 C1704214 \| xanthogranuloma \| 1 C0014130 \| endocrine disorders \| 1 C1266119 \| solitary fibrous tumor \| 1 C0011334 \| caries \| 1 C0022658 \| renal disease \| 1 C0001418 \| adenocarcinomas \| 1 C0338106 \| colonic adenocarcinoma \| 1 C0346054 \| verruciform xanthoma \| 1 C0221355 \| macrocephaly \| 1 C0009492 \| compartment syndrome \| 1 C0242379 \| lung cancer \| 1 C0023449 \| acute lymphoblastic leukemia \| 1 C0431399 \| joubert syndrome \| 1 C0031511 \| pheochromocytomas \| 1 C0007104 \| carcinoma of the breast \| 1 C0349604 \| intracranial meningiomas \| 1 C0023343 \| leprosy \| 1 C0338106 \| colon adenocarcinoma \| 1 C0027859 \| acoustic neuroma \| 1 C0334579 \| anaplastic astrocytoma \| 1 C0011570 \| depression \| 1 C0017609 \| neovascular glaucoma \| 1 C0017605 \| angle closure glaucoma \| 1 C0220603 \| pediatric brain tumor \| 1 C0023827 \| liposarcoma \| 1 C1861784 \| cerebral cavernous malformations \| 1 C0009324 \| ulcerative colitis \| 1 C1533041 \| primary congenital glaucoma \| 1 C0740457 \| renal cancer \| 1 C0153676 \| lung metastasis \| 1 C0029408 \| osteoarthritis \| 1 C0024221 \| lymphangioma \| 1 C0031511 \| adrenal pheochromocytoma \| 1 C0007785 \| cerebral infarction \| 1 C0031117 \| peripheral neuropathies \| 1 C0007140 \| carcinosarcoma \| 1 C1335309 \| pancreatic mucinous cystadenoma \| 1 C0041341 \| tuberous sclerosis \| 1 C0687120 \| nephronophthisis \| 1 C0019204 \| hepatocellular carcinoma \| 1 C0017150 \| gastrinoma \| 1 C0080178 \| spinal dysraphism \| 1 C0023348 \| lepromatous leprosy \| 1 C0021843 \| intestinal obstruction \| 1 C0392525 \| nephrolithiasis \| 1 C0019829 \| hodgkin's lymphoma \| 1 C0009806 \| constipation \| 1 C0410528 \| skeletal dysplasia \| 1 C0007785 \| cerebral infarctions \| 1 C0022661 \| end-stage renal disease \| 1 C0041341 \| tuberous sclerosis complex \| 1 C0022658 \| kidney disease \| 1 C0238463 \| papillary thyroid carcinoma \| 1 C0010633 \| cystadenoma \| 1 C0007194 \| hypertrophic cardiomyopathy \| 1 C0678222 \| breast carcinoma \| 1 C0851578 \| sleep disorders \| 1 C0027858 \| neuromas \| 1 C0007137 \| squamous cell carcinoma \| 1 C0038379 \| strabismus \| 1 C0678222 \| carcinoma of breast \| 1 C0039144 \| syringomyelia \| 1 C0025362 \| mental retardation \| 1 C0024302 \| large cell lymphoma \| 1 C0034013 \| precocious puberty \| 1 C0008029 \| cherubism \| 1 C0221002 \| primary hyperparathyroidism \| 1 C0677607 \| hashimoto's thyroiditis \| 1 C0019937 \| horner syndrome \| 1 C0206093 \| neuroectodermal tumors \| 1 C0011644 \| scleroderma \| 1 C0013592 \| ectropion \| 1 C0007115 \| thyroid ca \| 1 C0206093 \| primitive neuroectodermal tumor \| 1 C0549473 \| thyroid carcinoma \| 1 C0022735 \| klinefelter syndrome \| 1 C0014848 \| achalasia \| 1 C0017653 \| glomus tumour \| 1 C0022658 \| nephropathy \| 1 C0020502 \| hyperparathyroidism \| 1 C1261473 \| sarcomas \| 1 C0280783 \| juvenile pilocytic astrocytoma \| 1 C0032914 \| preeclampsia \| 1 C0011334 \| dental caries \| 1 C0852949 \| arteriopathy \| 1 C0002726 \| amyloidosis \| 1 C0238198 \| gastrointestinal stromal tumor (gist) \| 1 C0017547 \| gigantism \| 1 C0022116 \| ischemia \| 1 C0154916 \| iris neovascularization \| 1 C0878544 \| cardiomyopathy \| 1 C0003081 \| anisometropia \| 1 C0022603 \| seborrheic keratoses \| 1 C0238198 \| gastrointestinal stromal tumour \| 1 C0039263 \| atypical coarctation \| 1 C0334586 \| pleomorphic xanthoastrocytoma \| 1 C0023470 \| myelogenous leukemia \| 1 C0025202 \| melanoma \| 1 C0024305 \| non-hodgkin's lymphoma \| 1 C0684249 \| carcinoma of the lung \| 1 C0027859 \| acoustic neuromas \| 1 C0029442 \| osteomalacia \| 1 C0178664 \| glomerulosclerosis \| 1 C0206180 \| anaplastic large cell lymphoma \| 1 C0152013 \| adenocarcinoma of the lung \| 1 C0553723 \| cutaneous squamous cell carcinoma \| 1 C0349604 \| intracranial meningioma \| 1 C0345916 \| ampullary tumor \| 1 C0238432 \| spinal cord ependymoma \| 1 C0035412 \| rhabdomyosarcomas \| 1 C0014556 \| temporal lobe epilepsy \| 1 C0334583 \| pilocytic astrocytoma \| 1 C0009319 \| colitis \| 1 C1290398 \| cerebral artery aneurysm \| 1 C0020542 \| pulmonary hypertension \| 1 C0010635 \| mucinous cystadenoma \| 1 C0037317 \| sleep disturbances \| 1 C0334347 \| eccrine spiradenoma \| 1 C0014544 \| epileptic seizure \| 1 C0003857 \| arteriovenous malformation \| 1 C0162849 \| lichen nitidus \| 1 C0742472 \| central nervous system lymphoma \| 1 C0034888 \| rectal prolapse \| 1 C0037822 \| speech disorders \| 1 C0030421 \| paraganglioma \| 1 C0334347 \| spiradenoma \| 1 C0042109 \| urticaria \| 1 C0155550 \| neural deafness \| 1 C0007785 \| cerebral infarct \| 1 C0041408 \| turner syndrome \| 1 C0010964 \| dandy-walker malformation \| 1 C0338480 \| migraine without aura \| 1 C0030353 \| papilledema \| 1 C0023448 \| lymphoblastic leukemia \| 1 C0278883 \| metastatic melanoma \| 1 C0018784 \| sensorineural deafness \| 1 C0017668 \| focal segmental glomerulosclerosis \| 1 C0206716 \| ganglioglioma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 4763 \| NF1 \| GHR 4771 \| NF2 \| GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:129) 55803 \| ADAP2 \| 2.291 \| DISEASES 50808 \| AK3 \| 1.289 \| DISEASES 154796 \| AMOT \| 1.799 \| DISEASES 55107 \| ANO1 \| 1.718 \| DISEASES 162 \| AP1B1 \| 3.026 \| DISEASES 51074 \| APIP \| 1.297 \| DISEASES 27350 \| APOBEC3C \| 1.122 \| DISEASES 57492 \| ARID1B \| 1.104 \| DISEASES 54622 \| ARL15 \| 1.338 \| DISEASES 533 \| ATP6V0B \| 1.98 \| DISEASES 340542 \| BEX5 \| 2.375 \| DISEASES 282966 \| C10orf53 \| 2.541 \| DISEASES 816 \| CAMK2B \| 1.367 \| DISEASES 114800 \| CCDC85A \| 2.112 \| DISEASES 960 \| CD44 \| 1.549 \| DISEASES 1029 \| CDKN2A \| 2.983 \| DISEASES 100048912 \| CDKN2B-AS1 \| 1.755 \| DISEASES 26504 \| CNNM4 \| 1.002 \| DISEASES 51004 \| COQ6 \| 1.099 \| DISEASES 55118 \| CRTAC1 \| 1.679 \| DISEASES 1413 \| CRYBA4 \| 1.156 \| DISEASES 1415 \| CRYBB2 \| 3.041 \| DISEASES 1499 \| CTNNB1 \| 1.259 \| DISEASES 1534 \| CYB561 \| 1.861 \| DISEASES 1638 \| DCT \| 1.006 \| DISEASES 54583 \| EGLN1 \| 1.633 \| DISEASES 1994 \| ELAVL1 \| 1.286 \| DISEASES 1993 \| ELAVL2 \| 1.736 \| DISEASES 1996 \| ELAVL4 \| 1.362 \| DISEASES 2035 \| EPB41 \| 4.196 \| DISEASES 23136 \| EPB41L3 \| 1.726 \| DISEASES 2124 \| EVI2B \| 3.696 \| DISEASES 2139 \| EYA2 \| 1.011 \| DISEASES 7430 \| EZR \| 4.522 \| DISEASES 2173 \| FABP7 \| 2.634 \| DISEASES 284467 \| FAM19A3 \| 2.822 \| DISEASES 139628 \| FOXR2 \| 1.156 \| DISEASES 2551 \| GABPA \| 1.866 \| DISEASES 2596 \| GAP43 \| 1.653 \| DISEASES 2778 \| GNAS \| 1.27 \| DISEASES 2887 \| GRB10 \| 1.141 \| DISEASES 51454 \| GULP1 \| 1.182 \| DISEASES 23072 \| HECW1 \| 1.612 \| DISEASES 164045 \| HFM1 \| 2.036 \| DISEASES 9146 \| HGS \| 1.304 \| DISEASES 100750247 \| HIF1A-AS2 \| 1.475 \| DISEASES 3481 \| IGF2 \| 1.58 \| DISEASES 100423062 \| IGLL5 \| 1.355 \| DISEASES 654502 \| IQCJ \| 3.094 \| DISEASES 57670 \| KIAA1549 \| 2.974 \| DISEASES 3831 \| KLC1 \| 3.236 \| DISEASES 11275 \| KLHL2 \| 1.428 \| DISEASES 26524 \| LATS2 \| 2.31 \| DISEASES 143903 \| LAYN \| 1.811 \| DISEASES 3984 \| LIMK1 \| 1.406 \| DISEASES 3985 \| LIMK2 \| 2.532 \| DISEASES 114659 \| LRRC37B \| 3.535 \| DISEASES 4113 \| MAGEB2 \| 1.048 \| DISEASES 5609 \| MAP2K7 \| 2.53 \| DISEASES 5599 \| MAPK8 \| 1.647 \| DISEASES 4147 \| MATN2 \| 1.967 \| DISEASES 4149 \| MAX \| 2.24 \| DISEASES 4192 \| MDK \| 1.848 \| DISEASES 4193 \| MDM2 \| 1.457 \| DISEASES 4221 \| MEN1 \| 2.924 \| DISEASES 4222 \| MEOX1 \| 1.35 \| DISEASES 2315 \| MLANA \| 1.011 \| DISEASES 4478 \| MSN \| 5.083 \| DISEASES 2475 \| MTOR \| 3.267 \| DISEASES 4642 \| MYO1D \| 1.251 \| DISEASES 10763 \| NES \| 1.84 \| DISEASES 4763 \| NF1 \| 9.328 \| DISEASES 4771 \| NF2 \| 8.222 \| DISEASES 4774 \| NFIA \| 1.565 \| DISEASES 4781 \| NFIB \| 1.624 \| DISEASES 4782 \| NFIC \| 4.908 \| DISEASES 4784 \| NFIX \| 1.805 \| DISEASES 4803 \| NGF \| 1.875 \| DISEASES 57224 \| NHSL1 \| 1.587 \| DISEASES 154215 \| NKAIN2 \| 1.483 \| DISEASES 4893 \| NRAS \| 2.074 \| DISEASES 3084 \| NRG1 \| 1.79 \| DISEASES 11248 \| NXPH3 \| 2.433 \| DISEASES 10215 \| OLIG2 \| 2.005 \| DISEASES 5154 \| PDGFA \| 1.295 \| DISEASES 23760 \| PITPNB \| 1.607 \| DISEASES 5378 \| PMS1 \| 1.466 \| DISEASES 5573 \| PRKAR1A \| 1.407 \| DISEASES 5727 \| PTCH1 \| 1.405 \| DISEASES 8643 \| PTCH2 \| 1.144 \| DISEASES 5728 \| PTEN \| 2.801 \| DISEASES 5781 \| PTPN11 \| 4.161 \| DISEASES 5900 \| RALGDS \| 1.345 \| DISEASES 5962 \| RDX \| 5.209 \| DISEASES 5979 \| RET \| 3.501 \| DISEASES 253260 \| RICTOR \| 1.17 \| DISEASES 84282 \| RNF135 \| 1.306 \| DISEASES 6168 \| RPL37A \| 1.243 \| DISEASES 6276 \| S100A5 \| 1.47 \| DISEASES 60485 \| SAV1 \| 1.55 \| DISEASES 29970 \| SCHIP1 \| 1.328 \| DISEASES 6390 \| SDHB \| 4.716 \| DISEASES 6391 \| SDHC \| 4.138 \| DISEASES 6392 \| SDHD \| 4.871 \| DISEASES 10505 \| SEMA4F \| 1.591 \| DISEASES 8036 \| SHOC2 \| 2.281 \| DISEASES 6510 \| SLC1A5 \| 2.291 \| DISEASES 6512 \| SLC1A7 \| 3.221 \| DISEASES 6586 \| SLIT3 \| 1.315 \| DISEASES 9748 \| SLK \| 1.398 \| DISEASES 6605 \| SMARCE1 \| 1.599 \| DISEASES 23583 \| SMUG1 \| 2.673 \| DISEASES 6642 \| SNX1 \| 1.065 \| DISEASES 6654 \| SOS1 \| 1.684 \| DISEASES 6663 \| SOX10 \| 2.158 \| DISEASES 200734 \| SPRED2 \| 2.005 \| DISEASES 10252 \| SPRY1 \| 2.882 \| DISEASES 6714 \| SRC \| 1.224 \| DISEASES 79718 \| TBL1XR1 \| 3.52 \| DISEASES 84260 \| TCHP \| 2.287 \| DISEASES 7004 \| TEAD4 \| 1.808 \| DISEASES 79736 \| TEFM \| 2.442 \| DISEASES 8563 \| THOC5 \| 1.911 \| DISEASES 7073 \| TIAL1 \| 1.631 \| DISEASES 7153 \| TOP2A \| 1.028 \| DISEASES 348825 \| TPRXL \| 2.541 \| DISEASES 23331 \| TTC28 \| 1.715 \| DISEASES 7422 \| VEGFA \| 1.948 \| DISEASES 7757 \| ZNF208 \| 1.623 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1544
Disease	neurofibromatosis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:150) HP:0002664 \| Neoplasia \| 42 HP:0001067 \| Neurofibromas \| 36 HP:0100697 \| Neurofibrosarcoma \| 20 HP:0009588 \| Vestibular Schwannoma \| 19 HP:0009732 \| Plexiform neurofibroma \| 14 HP:0100008 \| Schwann cell tumour \| 12 HP:0002666 \| Pheochromocytoma \| 11 HP:0002617 \| Aneurysmal dilatation \| 10 HP:0100723 \| Gastrointestinal stroma tumor \| 9 HP:0009733 \| Glioma \| 8 HP:0002435 \| Meningocele \| 7 HP:0003002 \| Breast carcinoma \| 7 HP:0030731 \| Carcinoma \| 6 HP:0000501 \| Glaucoma \| 6 HP:0004947 \| Arteriovenous fistula \| 5 HP:0002888 \| Ependymoma \| 5 HP:0002650 \| Scoliosis \| 5 HP:0003005 \| Ganglioneuroma \| 5 HP:0000822 \| Hypertension \| 4 HP:0100543 \| Cognitive deficits \| 4 HP:0001087 \| Childhood glaucoma \| 3 HP:0010566 \| Hamartoma \| 3 HP:0012151 \| Hemothorax \| 3 HP:0002597 \| Abnormality of blood vessels \| 3 HP:0100242 \| Sarcoma \| 3 HP:0100775 \| Dural ectasia \| 3 HP:0000365 \| Hearing impairment \| 3 HP:0009589 \| Bilateral vestibular Schwannoma \| 3 HP:0002665 \| Lymphoma \| 3 HP:0001250 \| Seizures \| 2 HP:0030692 \| Brain tumor \| 2 HP:0000708 \| Behavioral problems \| 2 HP:0012803 \| Anisometropia \| 2 HP:0002668 \| Paragangliomas \| 2 HP:0001263 \| Developmental retardation \| 2 HP:0002858 \| Mengiomia \| 2 HP:0002360 \| Sleep disturbance \| 2 HP:0002808 \| Gibbus deformity \| 2 HP:0100843 \| Glioblastoma \| 2 HP:0009737 \| Lisch nodules \| 2 HP:0007544 \| Piebaldism \| 2 HP:0003764 \| Naevus \| 2 HP:0007018 \| Attention deficits \| 2 HP:0001909 \| Leukemia \| 2 HP:0002947 \| Cervical kyphosis \| 2 HP:0009592 \| Astrocytoma \| 2 HP:0000845 \| Acromegalic growth \| 1 HP:0006721 \| Acute lymphocytic leukemia \| 1 HP:0002860 \| Squamous cell carcinoma \| 1 HP:0002583 \| Colitis \| 1 HP:0009792 \| Teratoma \| 1 HP:0000112 \| Nephropathy \| 1 HP:0000826 \| Precocious puberty \| 1 HP:0010301 \| Spinal dysraphism \| 1 HP:0009735 \| Spinal neurofibromas \| 1 HP:0008200 \| Primary hyperparathyroidism \| 1 HP:0000212 \| Gingival overgrowth \| 1 HP:0003396 \| Syringomyelia \| 1 HP:0002895 \| Papillary thyroid carcinoma \| 1 HP:0001305 \| Dandy-Walker cyst \| 1 HP:0001000 \| Pigmentary changes \| 1 HP:0005086 \| Knee osteoarthritis \| 1 HP:0002150 \| Hypercalcinuria \| 1 HP:0002827 \| Hip dislocation \| 1 HP:0030426 \| Ossifying fibroma \| 1 HP:0004944 \| Cerebral artery aneurysm \| 1 HP:0002716 \| Lymph node hyperplasia \| 1 HP:0001321 \| Small cerebellum \| 1 HP:0000716 \| Depression \| 1 HP:0010310 \| Chylothorax \| 1 HP:0002751 \| Kyphoscoliosis \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0001025 \| Hives \| 1 HP:0100033 \| Tic disorder \| 1 HP:0010772 \| Anomalous pulmonary venous return \| 1 HP:0002315 \| Headaches \| 1 HP:0002749 \| Osteomalacia \| 1 HP:0008619 \| Bilateral sensorineural hearing impairment \| 1 HP:0000656 \| Ectropion \| 1 HP:0002277 \| Horner's syndrome \| 1 HP:0005214 \| Bowel obstruction \| 1 HP:0000752 \| Hyperactive behavior \| 1 HP:0000256 \| Macrocrania \| 1 HP:0002092 \| Pulmonary artery hypertension \| 1 HP:0200058 \| Angiosarcoma \| 1 HP:0000872 \| Hashimoto's thyroiditis \| 1 HP:0000572 \| Visual loss \| 1 HP:0002239 \| Gastrointestinal hemorrhage \| 1 HP:0005659 \| Thoracic kyphoscoliosis \| 1 HP:0001680 \| Coarctation of aorta \| 1 HP:0002861 \| Melanoma \| 1 HP:0100324 \| Progressive systemic scleroderma \| 1 HP:0003774 \| End-stage renal failure \| 1 HP:0000096 \| Glomerulosclerosis \| 1 HP:0011497 \| New blood vessel formation in iris \| 1 HP:0012034 \| Liposarcoma \| 1 HP:0012721 \| Venous malformations \| 1 HP:0000957 \| Cafe-au-lait macules \| 1 HP:0100570 \| Carcinoid tumor \| 1 HP:0005315 \| Peripheral artery occlusive disease \| 1 HP:0001920 \| Renal artery stenosis \| 1 HP:0002652 \| Skeletal dysplasia \| 1 HP:0010773 \| Partial anomalous pulmonary venous return \| 1 HP:0001114 \| Fatty deposits on eyelids \| 1 HP:0001482 \| Subcutaneous nodule \| 1 HP:0100026 \| Arteriovenous malformation \| 1 HP:0100602 \| Pre-eclampsia \| 1 HP:0008007 \| Primary congenital glaucoma \| 1 HP:0012163 \| Carotid artery aneurysm \| 1 HP:0002019 \| Dyschezia \| 1 HP:0002083 \| Migraine without aura \| 1 HP:0002948 \| Fusion of vertebral bodies \| 1 HP:0012189 \| Hodgkin disease \| 1 HP:0000486 \| Squint eyes \| 1 HP:0002584 \| Intestinal hemorrhage \| 1 HP:0030065 \| Primitive neuroectodermal tumor \| 1 HP:0001252 \| Hypotonia \| 1 HP:0012318 \| Occipital neuralgia \| 1 HP:0000968 \| Ectodermal dysplasia \| 1 HP:0000238 \| Nonsyndromal hydrocephalus \| 1 HP:0000771 \| Gynaecomastia \| 1 HP:0002167 \| Speech disorder \| 1 HP:0002138 \| Subarachnoid hemorrhage \| 1 HP:0000787 \| Renal calculi \| 1 HP:0001760 \| Foot deformities \| 1 HP:0100279 \| Ulcerative colitis \| 1 HP:0100009 \| Intracranial meningioma \| 1 HP:0000924 \| Abnormality of the skeletal system \| 1 HP:0000090 \| juvenile nephronophthisis \| 1 HP:0001324 \| Muscular weakness \| 1 HP:0000843 \| Hyperparathyroidism \| 1 HP:0000097 \| focal glomerulosclerosis \| 1 HP:0000670 \| Dental caries \| 1 HP:0000952 \| Yellow skin \| 1 HP:0002758 \| Osteoarthritis \| 1 HP:0007206 \| Hemimegalencephaly \| 1 HP:0006748 \| Adrenal pheochromocytoma \| 1 HP:0001085 \| Papilledema \| 1 HP:0000938 \| Decreased bone mineral density \| 1 HP:0001639 \| Hypertrophic cardiomyopathy \| 1 HP:0001402 \| Hepatocellular carcinoma \| 1 HP:0000407 \| sensorineural hearing loss \| 1 HP:0009590 \| Unilateral vestibular Schwannoma \| 1 HP:0001249 \| Mental retardation \| 1 HP:0011034 \| Amyloid disease \| 1 HP:0005864 \| Pseudoarthroses \| 1 HP:0002035 \| Rectal prolapse \| 1 HP:0100764 \| Lymphangioma \| 1 HP:0002571 \| Achalasia \| 1 HP:0002890 \| Thyroid carcinoma \| 1

Disease ID	1544
Disease	neurofibromatosis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:219) C2700478 \| meningioma C2697417 \| pheochromocytoma C2697384 \| colon cancer C2364108 \| stigma C2242765 \| spondylolisthesis C2103615 \| bilateral pheochromocytoma C2029884 \| hearing loss C1963220 \| pulmonary hypertension C1963138 \| hypertension C1963137 \| hydrocephalus C1963120 \| gynecomastia C1962986 \| glaucoma C1962983 \| cataract C1962958 \| hematoma C1959589 \| cavernous angioma C1947920 \| papillary fibroelastoma C1868081 \| juvenile polyposis coli C1834293 \| duodenal carcinoid C1704327 \| bone sarcomas C1621958 \| glioblastoma multiforme C1619734 \| pulmonary arterial hypertension C1608408 \| malignant transformation C1550639 \| fistula C1527390 \| intracranial tumors C1519086 \| pilomyxoid astrocytoma C1513146 \| mesenteric gastrointestinal stromal tumor C1417325 \| multiple sclerosis C1411989 \| angiomatosis C1409412 \| periostosis C1402315 \| vascular lesions C1393529 \| vascular complications C1373218 \| immunosuppression C1335161 \| fibrosarcoma of the ovary C1333320 \| duodenal somatostatinoma C1332562 \| urinary bladder paraganglioma C1300698 \| cutaneous melanoma C1280080 \| posterior mediastinum C1261470 \| meningocele C1136042 \| bilateral acoustic neurinomas C0919607 \| carcinoid tumor of the duodenum C0917996 \| cerebral aneurysms C0879615 \| stromal tumors C0856760 \| bilateral renal artery stenosis C0752303 \| urological manifestations C0751690 \| malignant schwannoma C0751690 \| malignant peripheral nerve sheath tumors C0751690 \| malignant peripheral nerve sheath tumor (mpnst) C0751690 \| malignant peripheral nerve sheath tumor C0751265 \| learning disabilities C0748159 \| pulmonary involvement C0740852 \| upper airway obstruction C0740577 \| acute abdominal pain C0700208 \| scoliosis C0700095 \| neuroblastoma C0700093 \| cystic astrocytoma C0700053 \| idiopathic hypertrophic subaortic stenosis C0684743 \| myosarcoma C0677865 \| brainstem glioma C0600033 \| kyphoscoliosis C0586407 \| skin symptom C0524801 \| retinal tumor C0520966 \| incoordination C0432347 \| uncombable hair syndrome C0428908 \| sinus node dysfunction C0426768 \| o sign C0426576 \| gastrointestinal symptoms C0425045 \| sudden infant death C0391826 \| lhermitte-duclos disease C0376293 \| stigmata C0349540 \| astrocytoma of the spinal cord C0346388 \| malignant melanoma of the choroid C0346373 \| iris melanoma C0346341 \| adenocarcinoma of the lacrimal gland C0346326 \| optic nerve gliomas C0346326 \| optic nerve glioma C0346326 \| optic gliomas C0346326 \| optic glioma C0346326 \| glioma of the optic nerve C0345916 \| ampullary tumor C0340648 \| coronary artery dissection C0339696 \| anisometropic amblyopia C0334595 \| ganglioneuromatosis C0334586 \| pleomorphic xanthoastrocytoma C0334542 \| malignant hemangiopericytoma C0334347 \| eccrine spiradenoma C0281361 \| adenocarcinoma of the pancreas C0279628 \| adenocarcinoma of the esophagus C0278803 \| small bowel adenocarcinoma C0278147 \| radicular pain C0267373 \| intestinal bleeding C0266798 \| cord compression C0265673 \| kyphosis C0265216 \| aqueductal stenosis C0264733 \| ventricular dilatation C0264306 \| laryngeal obstruction C0263579 \| becker's naevus C0262587 \| parathyroid adenoma C0259779 \| fibrous dysplasia C0241961 \| renal angiomyolipoma C0238198 \| gastrointestinal stromal tumors C0238198 \| gastrointestinal stromal tumor C0238198 \| gastrointestinal autonomic nerve tumour C0238114 \| oesophageal leiomyoma C0235325 \| gastric haemorrhage C0221046 \| carotid sinus syndrome C0206729 \| neurogenic sarcomas C0206729 \| neurofibrosarcomas C0206729 \| neurofibrosarcoma C0206728 \| plexiform neurofibromas C0206728 \| plexiform neurofibroma C0206726 \| gliosarcoma C0206629 \| pneumoblastoma C0206062 \| interstitial lung disease C0178664 \| glomerular sclerosis C0162869 \| ruptured aneurysm C0162651 \| gastric outlet obstruction C0162291 \| retinal ischemia C0155359 \| scleral staphyloma C0155271 \| pulsating exophthalmos C0152025 \| polyneuropathy C0152018 \| esophageal carcinoma C0152013 \| lung adenocarcinoma C0151779 \| malignant cutaneous melanoma C0085786 \| fibrosing alveolitis C0085669 \| acute leukemia C0085136 \| central nervous system neoplasms C0078981 \| arachnoid cysts C0078981 \| arachnoid cyst C0043324 \| juvenile xanthogranuloma C0042454 \| velopharyngeal insufficiency C0042133 \| leiomyoma C0041341 \| tuberous sclerosis C0041341 \| bourneville disease C0039070 \| syncope C0038525 \| subarachnoid hemorrhage C0038454 \| cerebrovascular accident C0037939 \| spinal tumors C0037930 \| spinal cord tumors C0037926 \| spinal cord compression C0037763 \| spasm C0037285 \| skin manifestations C0037284 \| skin lesions C0037090 \| respiratory symptom C0035067 \| renal artery stenosis C0034069 \| pulmonary fibrosis C0034013 \| pubertas praecox C0034013 \| precocious puberty C0033860 \| psoriasis C0033847 \| pseudoxanthoma elasticum C0033377 \| ptosis C0032962 \| complication of pregnancy C0032000 \| pituitary adenoma C0031511 \| pheochromocytomas C0031511 \| phaeochromocytoma C0031511 \| adrenal pheochromocytoma C0031117 \| peripheral neuropathy C0030421 \| paragangliomas C0029442 \| osteomalacia C0029166 \| oral manifestations C0029166 \| oral manifestation C0027961 \| primary acquired melanosis C0027961 \| nevus of ota C0027859 \| acoustic schwannoma C0027859 \| acoustic neuroma C0027858 \| neuroma C0027830 \| neurofibromas C0027809 \| schwannomas C0027809 \| schwannoma C0027533 \| tumor of the neck C0027022 \| myeloproliferative disease C0026764 \| multiple myeloma C0026654 \| moyamoya C0026640 \| oral tumor C0025299 \| meningoceles C0025202 \| malignant melanoma C0024299 \| lymphoma C0024115 \| lung disease C0023480 \| chronic myelomonocytic leukemia C0023473 \| chronic myelocytic leukemia C0023418 \| leukemias C0023418 \| leukemia C0023267 \| leiomyomas C0023186 \| learning disorder C0021847 \| intestinal pseudo-obstruction C0020545 \| renovascular hypertension C0020502 \| hyperparathyroidism C0020302 \| congenital glaucoma C0020302 \| buphthalmos C0019829 \| hodgkin's disease C0019080 \| hemorrhage C0018681 \| headaches C0018552 \| hamartoma C0017653 \| glomus tumors C0017638 \| gliomas C0017638 \| glioma C0017547 \| gigantism C0017547 \| giantism C0017181 \| gastrointestinal hemorrhage C0017075 \| ganglioneuroma C0015411 \| eye manifestations C0015397 \| eye disorders C0013882 \| elephantiasis C0013592 \| ectropion C0010051 \| coronary artery aneurysms C0010051 \| coronary artery aneurysm C0009447 \| common variable immunodeficiency C0009088 \| cluster headaches C0007815 \| cerebrospinal fluid rhinorrhoea C0007095 \| carcinoids C0005967 \| bone tumors C0005944 \| metabolic bone disease C0005779 \| coagulopathy C0004114 \| astrocytoma C0003892 \| neuropathic arthropathy C0003892 \| charcot's joint C0003838 \| arterial occlusive disease C0002940 \| aneurysms C0002940 \| aneurysm C0001403 \| addison's disease
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:65) C0027830 \| neurofibromas \| 31 C0027809 \| schwannomas \| 14 C0027809 \| schwannoma \| 12 C0031511 \| pheochromocytoma \| 11 C0206728 \| plexiform neurofibroma \| 10 C0751690 \| malignant peripheral nerve sheath tumor \| 10 C0002940 \| aneurysm \| 8 C0751690 \| malignant peripheral nerve sheath tumors \| 8 C0026654 \| moyamoya \| 7 C0017638 \| glioma \| 6 C0017638 \| gliomas \| 6 C0017601 \| glaucoma \| 6 C0017075 \| ganglioneuroma \| 5 C0025299 \| meningocele \| 5 C0238198 \| gastrointestinal stromal tumor \| 5 C0036439 \| scoliosis \| 5 C0020538 \| hypertension \| 4 C0879615 \| stromal tumors \| 4 C0016169 \| fistula \| 4 C0206728 \| plexiform neurofibromas \| 4 C0020302 \| congenital glaucoma \| 3 C0018552 \| hamartoma \| 3 C0024299 \| lymphoma \| 3 C0002940 \| aneurysms \| 2 C0238198 \| gastrointestinal stromal tumors \| 2 C0037284 \| skin lesions \| 2 C0043324 \| juvenile xanthogranuloma \| 2 C0025299 \| meningoceles \| 2 C0025286 \| meningioma \| 2 C0022821 \| kyphosis \| 2 C0751690 \| malignant peripheral nerve sheath tumor (mpnst) \| 2 C1619734 \| pulmonary arterial hypertension \| 2 C1393529 \| vascular complications \| 2 C0019080 \| hemorrhage \| 2 C0023418 \| leukemia \| 2 C0004114 \| astrocytoma \| 2 C0017653 \| glomus tumors \| 2 C0002992 \| angiomatosis \| 1 C1402315 \| vascular lesions \| 1 C0027859 \| acoustic neuroma \| 1 C0020255 \| hydrocephalus \| 1 C1608408 \| malignant transformation \| 1 C0345916 \| ampullary tumor \| 1 C0020542 \| pulmonary hypertension \| 1 C0267373 \| intestinal bleeding \| 1 C1384666 \| hearing loss \| 1 C0038525 \| subarachnoid hemorrhage \| 1 C0029442 \| osteomalacia \| 1 C0029166 \| oral manifestations \| 1 C0017547 \| gigantism \| 1 C0035067 \| renal artery stenosis \| 1 C0030421 \| paragangliomas \| 1 C0034013 \| precocious puberty \| 1 C0346326 \| optic nerve glioma \| 1 C1947920 \| papillary fibroelastoma \| 1 C0162291 \| retinal ischemia \| 1 C0013592 \| ectropion \| 1 C0018418 \| gynecomastia \| 1 C0334586 \| pleomorphic xanthoastrocytoma \| 1 C0031511 \| pheochromocytomas \| 1 C0345392 \| kyphoscoliosis \| 1 C0018944 \| hematoma \| 1 C0334347 \| eccrine spiradenoma \| 1 C0020502 \| hyperparathyroidism \| 1 C0027961 \| primary acquired melanosis \| 1

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

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

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Disease ID	1544
Disease	neurofibromatosis
Case	(Waiting for update.)

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