eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| neurofibromatosis type 1 | ||||
| Disease ID | 114 |
|---|---|
| Disease | neurofibromatosis type 1 |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:120) C2697417 | pheochromocytoma C2697383 | osteosarcoma C2363902 | glioneuronal tumor C2096315 | headache C2063729 | multiple coronary aneurysms C2029884 | hearing loss C1963137 | hydrocephalus C1963091 | diarrhea C1962958 | hematoma C1955869 | malformations of cortical development C1622510 | neurocytoma C1619734 | pulmonary arterial hypertension C1608408 | malignant transformation C1550639 | fistula C1546654 | granuloma C1417325 | multiple sclerosis C1402315 | vascular lesions C1368041 | somatostatinoma C1336043 | hamartoma of the spinal cord C1334667 | malignant peripheral nerve sheath tumor of the mediastinum C1332243 | ampullary adenocarcinoma C1319185 | chiasmal glioma C1304470 | generalized vitiligo C1266177 | dysembryoplastic neuroepithelial tumor C1261470 | meningocele C0836924 | thrombocytosis C0751690 | malignant peripheral nerve sheath tumour C0751690 | malignant peripheral nerve sheath tumors C0751690 | malignant peripheral nerve sheath tumor C0751689 | peripheral nerve sheath tumors C0700208 | scoliosis C0679466 | cognitive deficits C0678222 | breast cancer C0677866 | brainstem tumors C0677866 | brain stem tumors C0597984 | biliary stricture C0542007 | cerebral hematoma C0476089 | endometrial carcinoma C0376480 | gingival enlargement C0376293 | stigmata C0349639 | juvenile chronic myelogenous leukemia C0349538 | anal malignant melanoma C0346326 | optic gliomas C0346326 | optic glioma C0346326 | glioma of optic nerve C0339530 | cone-rod retinal dystrophy C0334586 | pleomorphic xanthoastrocytoma C0334583 | pilocytic astrocytomas C0334583 | pilocytic astrocytoma C0334533 | arteriovenous malformation C0334463 | malignant fibrous histiocytoma C0332573 | macule C0278804 | duodenal adenocarcinoma C0268790 | renal vascular disease C0265216 | aqueductal stenosis C0238463 | thyroid papillary carcinoma C0238198 | gastrointestinal stromal tumors C0238198 | gastrointestinal stromal tumor C0238198 | gastrointestinal autonomic nerve tumour C0232493 | epigastric pain C0221505 | brain lesions C0221002 | primary hyperparathyroidism C0206729 | neurogenic sarcoma C0206729 | neurofibrosarcoma C0206728 | plexiform neurofibromas C0206728 | plexiform neurofibroma C0206727 | nerve sheath tumors C0206727 | nerve sheath tumor C0206671 | nodular hidradenoma C0155746 | subclavian artery aneurysm C0085136 | cns tumors C0079773 | cutaneous t-cell lymphoma C0043515 | zollinger-ellison syndrome C0043324 | juvenile xanthogranuloma C0042373 | vascular disease C0042373 | angiopathy C0039590 | testicular tumour C0037822 | speech disorders C0037769 | infantile spasms C0037285 | skin manifestation C0037284 | skin lesions C0035412 | rhabdomyosarcoma C0035067 | renal artery stenosis C0034951 | refractive errors C0034013 | precocious puberty C0032000 | pituitary adenoma C0031511 | adrenal pheochromocytoma C0029182 | orbital disease C0027961 | primary acquired melanosis C0027830 | neurofibromas C0027092 | myopia C0025362 | mental retardation C0025299 | meningoceles C0025149 | medulloblastomas C0024305 | non-hodgkin's lymphoma C0024299 | lymphoma C0023186 | learning disorders C0020635 | hypopituitarism C0020302 | congenital glaucoma C0019080 | hemorrhage C0018784 | sensorineural hearing loss C0018552 | hamartomas C0018552 | hamartoma C0017653 | glomus tumors C0017638 | gliomas C0017638 | glioma C0017075 | ganglioneuromas C0017075 | ganglioneuroma C0014522 | epidermodysplasia verruciformis C0013291 | duodenal neoplasms C0008680 | chronic eosinophilic pneumonia C0008029 | cherubism C0007766 | intracranial aneurysms C0005941 | bone dysplasia C0004364 | autoimmune diseases C0002940 | aneurysm C0002418 | amblyopia C0001418 | adenocarcinomas C0001418 | adenocarcinoma C0000735 | abdominal neoplasms |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:63) C0027830 | neurofibromas | 26 C0206728 | plexiform neurofibroma | 12 C0206727 | nerve sheath tumor | 12 C0002940 | aneurysm | 10 C0751690 | malignant peripheral nerve sheath tumor | 10 C0751689 | peripheral nerve sheath tumors | 8 C0031511 | pheochromocytoma | 7 C0027830 | neurofibroma | 7 C0017638 | gliomas | 6 C0206727 | nerve sheath tumors | 5 C0006142 | breast cancer | 5 C0751690 | malignant peripheral nerve sheath tumors | 5 C0017638 | glioma | 4 C0017075 | ganglioneuroma | 3 C0016169 | fistula | 3 C0019080 | hemorrhage | 3 C0206728 | plexiform neurofibromas | 3 C0025299 | meningocele | 3 C0024299 | lymphoma | 3 C0238198 | gastrointestinal stromal tumor | 3 C0018552 | hamartoma | 2 C0036439 | scoliosis | 2 C0027809 | schwannomas | 2 C0679466 | cognitive deficits | 2 C0751690 | malignant peripheral nerve sheath tumour | 2 C0020302 | congenital glaucoma | 2 C1619734 | pulmonary arterial hypertension | 2 C0221505 | brain lesions | 1 C0037661 | somatostatinoma | 1 C0020255 | hydrocephalus | 1 C0334586 | pleomorphic xanthoastrocytoma | 1 C0017075 | ganglioneuromas | 1 C0043324 | juvenile xanthogranuloma | 1 C0879615 | stromal tumors | 1 C1608408 | malignant transformation | 1 C0334583 | pilocytic astrocytoma | 1 C0018188 | granuloma | 1 C0018944 | hematoma | 1 C0027961 | primary acquired melanosis | 1 C1393529 | vascular complications | 1 C0001418 | adenocarcinomas | 1 C0018681 | headache | 1 C0003857 | arteriovenous malformation | 1 C0024623 | gastric cancer | 1 C0701838 | malignant schwannoma | 1 C0221002 | primary hyperparathyroidism | 1 C1384666 | hearing loss | 1 C0024305 | non-hodgkin's lymphoma | 1 C0346057 | cutaneous neurofibroma | 1 C0085136 | cns tumors | 1 C0020538 | hypertension | 1 C0155760 | artery rupture | 1 C0034013 | precocious puberty | 1 C0751690 | malignant peripheral nerve sheath tumor (mpnst) | 1 C0017653 | glomus tumors | 1 C0035067 | renal artery stenosis | 1 C0238198 | gastrointestinal stromal tumors | 1 C0677866 | brainstem tumors | 1 C0037822 | speech disorders | 1 C0036572 | seizures | 1 C1402315 | vascular lesions | 1 C0346326 | glioma of optic nerve | 1 C0013291 | duodenal neoplasms | 1 |
Manually Genotype(Total Manually Genotypes:2) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| 17q11.2 | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
| NF1 | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:124) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs113488022 | 23190154 | 3845 | KRAS | umls:C0027831 | BeFree | Our findings suggest that RAS pathway activation due to BRAF V600E and KRAS mutations is an important event in a subset of peripheral nerve sheath tumours not related to NF. | 0.002638474 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23190154 | 673 | BRAF | umls:C0027831 | BeFree | Our findings suggest that RAS pathway activation due to BRAF V600E and KRAS mutations is an important event in a subset of peripheral nerve sheath tumours not related to NF. | 0.004267125 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24335681 | 673 | BRAF | umls:C0027831 | BeFree | These tumors have been reported to show increased activity in the mitogen-activated protein kinase pathway from the loss of neurofibromatosis-1 regulation and occasionally from BRAF V600E mutation. | 0.004267125 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs121918457 | 21365175 | 5781 | PTPN11 | umls:C0027831 | BeFree | LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria. | 0.001900093 | 2011 | PTPN11 | 12 | 112488466 | C | T |
| rs137854550 | 11857752 | 4763 | NF1 | umls:C0027831 | UNIPROT | NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas. | 0.670236159 | 2002 | NF1 | 17 | 31258500 | A | G |
| rs137854550 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31258500 | A | G |
| rs137854551 | 1302608 | 4763 | NF1 | umls:C0027831 | UNIPROT | Analysis of mutations at the neurofibromatosis 1 (NF1) locus. | 0.670236159 | 1992 | NF1 | 17 | 31337430 | C | A |
| rs137854551 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31337430 | C | A |
| rs137854552 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31334927 | C | T |
| rs137854552 | 16117786 | 4763 | NF1 | umls:C0027831 | BeFree | Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1. | 0.670236159 | 2005 | NF1 | 17 | 31334927 | C | T |
| rs137854553 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31230373 | T | G |
| rs137854553 | 8807336 | 4763 | NF1 | umls:C0027831 | UNIPROT | LEOPARD syndrome shows a great clinical overlap with neurofibromatosis type 1 (NF1). | 0.670236159 | 1996 | NF1 | 17 | 31230373 | T | G |
| rs137854554 | 9003501 | 4763 | NF1 | umls:C0027831 | UNIPROT | Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. | 0.670236159 | 1997 | NF1 | 17 | 31258406 | A | T |
| rs137854554 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31258406 | A | T |
| rs137854556 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31235729 | G | A,C |
| rs137854556 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31235729 | G | A,C |
| rs137854557 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31214524 | A | G |
| rs137854557 | 15060124 | 4763 | NF1 | umls:C0027831 | UNIPROT | Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. | 0.670236159 | 2004 | NF1 | 17 | 31214524 | A | G |
| rs137854558 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31214581 | T | C |
| rs137854558 | 11258625 | 4763 | NF1 | umls:C0027831 | UNIPROT | Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing. | 0.670236159 | 1999 | NF1 | 17 | 31214581 | T | C |
| rs137854559 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31249030 | C | T |
| rs137854560 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31249093 | C | T |
| rs137854562 | 12483293 | 6899 | TBX1 | umls:C0027831 | BeFree | Three members of a Portuguese family, who exhibited clinical evidence of neurofibromatosis type 1 (NF1), were found to possess different heritable and pathological mutations in their NF1 genes: a 1.5-Mb deletion spanning the entire NF1 gene, a truncating CGA-->TGA transition in exon 22 (R1241X), and a frameshift mutation in exon 29 (5406insT). | 0.000271442 | 2003 | NF1 | 17 | 31235623 | C | T |
| rs137854562 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31235623 | C | T |
| rs137854563 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31201044 | T | C |
| rs137854563 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31201044 | T | C |
| rs137854564 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31235630 | T | C |
| rs137854564 | 15520408 | 4763 | NF1 | umls:C0027831 | UNIPROT | Neurofibromatous neuropathy in neurofibromatosis 1 (NF1). | 0.670236159 | 2004 | NF1 | 17 | 31235630 | T | C |
| rs137854565 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31330459 | G | T |
| rs137854566 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31229146 | T | C,G |
| rs137854566 | 15060124 | 4763 | NF1 | umls:C0027831 | UNIPROT | Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. | 0.670236159 | 2004 | NF1 | 17 | 31229146 | T | C,G |
| rs137854566 | 12522551 | 4763 | NF1 | umls:C0027831 | UNIPROT | These children exhibited a constitutional genetic instability associated with clinical features of de novo neurofibromatosis type 1 (NF1) and early onset of extracolonic cancer. | 0.670236159 | 2003 | NF1 | 17 | 31229146 | T | C,G |
| rs142712751 | 12522551 | 4763 | NF1 | umls:C0027831 | UNIPROT | These children exhibited a constitutional genetic instability associated with clinical features of de novo neurofibromatosis type 1 (NF1) and early onset of extracolonic cancer. | 0.670236159 | 2003 | NF1 | 17 | 31223532 | T | C,G |
| rs149055633 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31352319 | C | T |
| rs199474725 | 15060124 | 4763 | NF1 | umls:C0027831 | UNIPROT | Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. | 0.670236159 | 2004 | NF1 | 17 | 31156014 | A | G |
| rs199474728 | 12522551 | 4763 | NF1 | umls:C0027831 | UNIPROT | These children exhibited a constitutional genetic instability associated with clinical features of de novo neurofibromatosis type 1 (NF1) and early onset of extracolonic cancer. | 0.670236159 | 2003 | NF1 | 17 | 31159083 | G | A |
| rs199474729 | 11857752 | 4763 | NF1 | umls:C0027831 | UNIPROT | NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas. | 0.670236159 | 2002 | NF1 | 17 | 31159050 | C | T |
| rs199474730 | 11857752 | 4763 | NF1 | umls:C0027831 | UNIPROT | NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas. | 0.670236159 | 2002 | NF1 | 17 | 31227547 | T | C |
| rs199474731 | 10607834 | 4763 | NF1 | umls:C0027831 | UNIPROT | The location and type of mutation within the NF1 gene, and its putative effect at the protein level, do not indicate any relationship to any specific clinical feature of NF1. | 0.670236159 | 2000 | NF1 | 17 | 31163247 | T | G |
| rs199474732 | 10607834 | 4763 | NF1 | umls:C0027831 | UNIPROT | The location and type of mutation within the NF1 gene, and its putative effect at the protein level, do not indicate any relationship to any specific clinical feature of NF1. | 0.670236159 | 2000 | NF1 | 17 | 31233115 | C | G,T |
| rs199474732 | 10336779 | 4763 | NF1 | umls:C0027831 | UNIPROT | Neurofibromatosis type 1 (NF1) is a dominant disorder caused by mutations in the NF1 gene; approximately 100 NF1 gene mutations have been published. | 0.670236159 | 1998 | NF1 | 17 | 31233115 | C | G,T |
| rs199474733 | 10220149 | 4763 | NF1 | umls:C0027831 | UNIPROT | We have identified a novel mutation L1425P in exon 25 of the NF1 gene in a 12-year-old boy (clinically diagnosed with NF1 at the age of 7). | 0.670236159 | 1999 | NF1 | 17 | 31259036 | T | C |
| rs199474734 | 15060124 | 4763 | NF1 | umls:C0027831 | UNIPROT | Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. | 0.670236159 | 2004 | NF1 | 17 | 31163331 | T | C |
| rs199474735 | 15060124 | 4763 | NF1 | umls:C0027831 | UNIPROT | Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. | 0.670236159 | 2004 | NF1 | 17 | 31200503 | T | C |
| rs199474736 | 15060124 | 4763 | NF1 | umls:C0027831 | UNIPROT | Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. | 0.670236159 | 2004 | NF1 | 17 | 31200543 | A | T |
| rs199474737 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31219072 | T | C |
| rs199474737 | 15060124 | 4763 | NF1 | umls:C0027831 | UNIPROT | Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. | 0.670236159 | 2004 | NF1 | 17 | 31219072 | T | C |
| rs199474738 | 15060124 | 4763 | NF1 | umls:C0027831 | UNIPROT | Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. | 0.670236159 | 2004 | NF1 | 17 | 31225134 | G | A |
| rs199474740 | 15060124 | 4763 | NF1 | umls:C0027831 | UNIPROT | Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. | 0.670236159 | 2004 | NF1 | 17 | 31232092 | A | G |
| rs199474741 | 15060124 | 4763 | NF1 | umls:C0027831 | UNIPROT | Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. | 0.670236159 | 2004 | NF1 | 17 | 31233092 | T | G |
| rs199474742 | 15060124 | 4763 | NF1 | umls:C0027831 | UNIPROT | Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. | 0.670236159 | 2004 | NF1 | 17 | 31235728 | C | G,T |
| rs199474743 | 15060124 | 4763 | NF1 | umls:C0027831 | UNIPROT | Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. | 0.670236159 | 2004 | NF1 | 17 | 31260403 | A | G |
| rs199474744 | 15146469 | 4763 | NF1 | umls:C0027831 | UNIPROT | Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. | 0.670236159 | 2004 | NF1 | 17 | 31163367 | T | A |
| rs199474745 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31227527 | G | C |
| rs199474746 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31227536 | C | A |
| rs199474747 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31229155 | T | C |
| rs199474748 | 12552569 | 4763 | NF1 | umls:C0027831 | UNIPROT | We established theoretical conditions for DHPLC analysis of all coding exons and splice junctions of the NF1 gene using the WAVEmaker software version 4.1.40 and screened for mutations a panel of 40 unrelated NF1 patients (25 sporadic and 15 familial), genetically uncharacterized. | 0.670236159 | 2003 | NF1 | 17 | 31229158 | G | A |
| rs199474749 | 12552569 | 4763 | NF1 | umls:C0027831 | UNIPROT | We established theoretical conditions for DHPLC analysis of all coding exons and splice junctions of the NF1 gene using the WAVEmaker software version 4.1.40 and screened for mutations a panel of 40 unrelated NF1 patients (25 sporadic and 15 familial), genetically uncharacterized. | 0.670236159 | 2003 | NF1 | 17 | 31229887 | T | G |
| rs199474750 | 12552569 | 4763 | NF1 | umls:C0027831 | UNIPROT | We established theoretical conditions for DHPLC analysis of all coding exons and splice junctions of the NF1 gene using the WAVEmaker software version 4.1.40 and screened for mutations a panel of 40 unrelated NF1 patients (25 sporadic and 15 familial), genetically uncharacterized. | 0.670236159 | 2003 | NF1 | 17 | 31258502 | G | T |
| rs199474751 | 12552569 | 4763 | NF1 | umls:C0027831 | UNIPROT | We established theoretical conditions for DHPLC analysis of all coding exons and splice junctions of the NF1 gene using the WAVEmaker software version 4.1.40 and screened for mutations a panel of 40 unrelated NF1 patients (25 sporadic and 15 familial), genetically uncharacterized. | 0.670236159 | 2003 | NF1 | 17 | 31335026 | G | A |
| rs199474752 | 21838856 | 4763 | NF1 | umls:C0027831 | UNIPROT | Neurofibroma occurs as isolated or multiple lesions frequently associated with neurofibromatosis type 1 (NF1), a common autosomal dominant disorder affecting 1 in 3500 individuals. | 0.670236159 | 2011 | NF1 | 17 | 31163376 | G | C |
| rs199474756 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31181482 | T | C |
| rs199474757 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31214530 | A | G |
| rs199474758 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31221854 | T | C |
| rs199474759 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31223464 | T | C |
| rs199474760 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31223470 | A | G |
| rs199474761 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31226517 | T | C |
| rs199474762 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31227254 | T | C,G |
| rs199474763 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31227539 | A | C,T |
| rs199474764 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31232852 | A | G |
| rs199474765 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31235651 | G | C |
| rs199474766 | 10712197 | 4763 | NF1 | umls:C0027831 | UNIPROT | More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. | 0.670236159 | 2000 | NF1 | 17 | 31265317 | A | G |
| rs199474773 | 9298829 | 4763 | NF1 | umls:C0027831 | UNIPROT | Six novel mutations in the neurofibromatosis type 1 (NF1) gene. | 0.670236159 | 1997 | NF1 | 17 | 31200546 | A | G |
| rs199474774 | 12746402 | 4763 | NF1 | umls:C0027831 | UNIPROT | NF1 mutations and clinical spectrum in patients with spinal neurofibromas. | 0.670236159 | 2003 | NF1 | 17 | 31223455 | T | G |
| rs199474775 | 12746402 | 4763 | NF1 | umls:C0027831 | UNIPROT | NF1 mutations and clinical spectrum in patients with spinal neurofibromas. | 0.670236159 | 2003 | NF1 | 17 | 31229374 | T | C |
| rs199474776 | 12746402 | 4763 | NF1 | umls:C0027831 | UNIPROT | NF1 mutations and clinical spectrum in patients with spinal neurofibromas. | 0.670236159 | 2003 | NF1 | 17 | 31337837 | C | G |
| rs199474778 | 11735023 | 4763 | NF1 | umls:C0027831 | UNIPROT | DHPLC was therefore optimised for the rapid screening of the 60 exons and splice junctions of the NF1 gene in patients with NF1. | 0.670236159 | 2001 | NF1 | 17 | 31227549 | G | C |
| rs199474779 | 11735023 | 4763 | NF1 | umls:C0027831 | UNIPROT | DHPLC was therefore optimised for the rapid screening of the 60 exons and splice junctions of the NF1 gene in patients with NF1. | 0.670236159 | 2001 | NF1 | 17 | 31232825 | T | C |
| rs199474780 | 11735023 | 4763 | NF1 | umls:C0027831 | UNIPROT | DHPLC was therefore optimised for the rapid screening of the 60 exons and splice junctions of the NF1 gene in patients with NF1. | 0.670236159 | 2001 | NF1 | 17 | 31233083 | T | G |
| rs199474781 | 11735023 | 4763 | NF1 | umls:C0027831 | UNIPROT | DHPLC was therefore optimised for the rapid screening of the 60 exons and splice junctions of the NF1 gene in patients with NF1. | 0.670236159 | 2001 | NF1 | 17 | 31258501 | A | G |
| rs199474782 | 11735023 | 4763 | NF1 | umls:C0027831 | UNIPROT | DHPLC was therefore optimised for the rapid screening of the 60 exons and splice junctions of the NF1 gene in patients with NF1. | 0.670236159 | 2001 | NF1 | 17 | 31327583 | G | T |
| rs199474783 | 11735023 | 4763 | NF1 | umls:C0027831 | UNIPROT | DHPLC was therefore optimised for the rapid screening of the 60 exons and splice junctions of the NF1 gene in patients with NF1. | 0.670236159 | 2001 | NF1 | 17 | 31336360 | G | A |
| rs199474784 | 11735023 | 4763 | NF1 | umls:C0027831 | UNIPROT | DHPLC was therefore optimised for the rapid screening of the 60 exons and splice junctions of the NF1 gene in patients with NF1. | 0.670236159 | 2001 | NF1 | 17 | 31343015 | G | A |
| rs199474785 | 10980545 | 4763 | NF1 | umls:C0027831 | UNIPROT | NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1. | 0.670236159 | 2000 | NF1 | 17 | 31229145 | C | T |
| rs199474786 | 12522551 | 4763 | NF1 | umls:C0027831 | UNIPROT | These children exhibited a constitutional genetic instability associated with clinical features of de novo neurofibromatosis type 1 (NF1) and early onset of extracolonic cancer. | 0.670236159 | 2003 | NF1 | 17 | 31229308 | T | C |
| rs199474787 | 7981679 | 4763 | NF1 | umls:C0027831 | UNIPROT | Neurofibromatosis type-1 (NF-1) is an autosomal dominant disorder, caused by mutations in the NF-1 gene. | 0.670236159 | 1994 | NF1 | 17 | 31233002 | G | A |
| rs199474788 | 7981679 | 4763 | NF1 | umls:C0027831 | UNIPROT | Neurofibromatosis type-1 (NF-1) is an autosomal dominant disorder, caused by mutations in the NF-1 gene. | 0.670236159 | 1994 | NF1 | 17 | 31258489 | A | G |
| rs199474789 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31258401 | C | T |
| rs199474790 | 9003501 | 4763 | NF1 | umls:C0027831 | UNIPROT | Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. | 0.670236159 | 1997 | NF1 | 17 | 31258488 | A | C |
| rs199474791 | 9101300 | 4763 | NF1 | umls:C0027831 | UNIPROT | Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene. | 0.670236159 | 1997 | NF1 | 17 | 31334879 | T | C |
| rs199474792 | 2114220 | 4763 | NF1 | umls:C0027831 | UNIPROT | A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. | 0.670236159 | 1990 | NF1 | 17 | 31334883 | T | C |
| rs199474792 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31334883 | T | C |
| rs199474793 | 8544190 | 4763 | NF1 | umls:C0027831 | UNIPROT | Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene. | 0.670236159 | 1995 | NF1 | 17 | 31357290 | A | G |
| rs267606595 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31334933 | A | T |
| rs267606596 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31327741 | - | C |
| rs267606597 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31327758 | - | T |
| rs267606598 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31337514 | T | A |
| rs267606599 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31230383 | G | A,T |
| rs267606600 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31219018 | AG | - |
| rs267606602 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31221842 | A | G |
| rs267606603 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31201486 | G | A |
| rs267606604 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31336328 | A | G |
| rs267606605 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31327699 | - | T |
| rs267606606 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31229954 | AAT | - |
| rs267606990 | 19449407 | 5781 | PTPN11 | umls:C0027831 | BeFree | The patient was found to carry a de novo PTPN11 mutation p.T2I as well as the maternally inherited NF1 mutation c.4661+1G>C. Her otherwise healthy mother and brother, who also had the NF1 mutation, showed few café-au-lait spots as the only sign of neurofibromatosis. | 0.001900093 | 2009 | PTPN11;RPL6 | 12 | 112419116 | C | T |
| rs386626619 | 18623221 | 3717 | JAK2 | umls:C0027831 | BeFree | JAK2 V617F positive polycythemia Vera in a child with neurofibromatosis type I. | 0.000271442 | 2008 | NA | NA | NA | NA | NA |
| rs397514640 | 17406642 | 5080 | PAX6 | umls:C0027831 | BeFree | A novel PAX6 missense mutation (p.R38W) was inherited from her mother whose iris phenotype had not been evident because of ocular neurofibromatosis. | 0.000271442 | 2007 | PAX6 | 11 | 31802733 | G | A |
| rs397514641 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31169985 | C | T |
| rs63750899 | 15139004 | 4292 | MLH1 | umls:C0027831 | BeFree | HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1. | 0.001628651 | 2004 | MLH1 | 3 | 37048562 | C | T |
| rs768638173 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31226474 | C | T |
| rs771529172 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31327719 | G | A,C,T |
| rs772295894 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31338739 | C | A,G |
| rs77375493 | 18623221 | 3717 | JAK2 | umls:C0027831 | BeFree | JAK2 V617F positive polycythemia Vera in a child with neurofibromatosis type I. | 0.000271442 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs786201367 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31357308 | C | T |
| rs786203390 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31260484 | G | C,T |
| rs786204059 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31223504 | AG | - |
| rs786204154 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31227260 | GCATTGA | - |
| rs786204157 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31259039 | A | G |
| rs786204207 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31258504 | T | C |
| rs786204211 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31232879 | T | A |
| rs786204251 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31232841 | ACTC | - |
| rs786204253 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31233005 | T | G |
| rs786204255 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31223455 | - | T |
| rs797045139 | NA | 4763 | NF1 | umls:C0027831 | CLINVAR | NA | 0.670236159 | NA | NF1 | 17 | 31327718 | C | A,G,T |
GWASdb Annotation(Total Genotypes:1) | |||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chr | Pos | SNP_Id | RefGene | EnsemblGene | ENCODE_Factor | ENCODE_TFBS | Chromosome_interaction | GTEx_eQTL | SNP_TFBS_affinity_GWAS3D | SNP_miRNA_target_affinity_PolymiRTS | SNP_splicing_effect_Skippy | SNP_splicing_effect_MutPred_Splice | SNP_ns_protein_effect_dbNSFP | SNP_syn_effect_Silva | SNP_phosphorylation_effect_PhosSNP | PhastCons_score | PhyloP_score | GERP++_RS | Segway_state | Ancestral_allele | ESP_AF | ESP_AFR | ESP_AFR | ESP_EUR | TG_ASN | TG_AMR | TG_AFR | TG_EUR | Type | Consequence | bStatistic | EncH3K27Ac | EncH3K4Me1 | EncH3K4Me3 | EncNucleo | OMIM | Clinvar |
| 17 | 32923347 | rs11080287 | NM_207313,TMEM132E | ENST00000321639,ENSG00000181291 | NA | NA | NA | NA | Bapx1_2343,1.3213 | Cep3-primary,31.738 | Cgd2_3490,5.163 | Cha4-primary,3.1736 | Mcm1-primary,4.1002 | NA | NA | NA | NA | NA | NA | 0.000 | -1.147 | -4.78 | TF1 | A | NA | NA | NA | 0.160 | 0.060 | 0.160 | 0.260 | 0.180 | Transcript | INTRONIC | 894 | 2.00 | 3.00 |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:22) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003272 | Abnormality of the hip bone | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| HP:0003100 | Slender long bone | MP:0013624 | decreased femur compact bone thickness | reduced width of the superficial layer of compact bone at the midpoint of the femur |
| HP:0000924 | Abnormality of the skeletal system | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0011362 | Abnormal hair quantity | MP:0008861 | abnormal hair shedding | anomaly in the hair cycle changes the timing of the hair loss that normally follows the anagen phase |
| HP:0000818 | Abnormality of the endocrine system | MP:0010465 | aberrant origin of the right subclavian artery | the right subclavian artery arises from an atypical location on the aortic arch or the proximal descending aorta |
| HP:0000492 | Abnormality of the eyelid | MP:0010178 | increased number of Howell-Jolly bodies | abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in |
| HP:0001387 | Joint stiffness | MP:0003098 | decreased tendon stiffness | reduced ability of tendon to maintain tensile strength and load |
| HP:0000504 | Abnormality of vision | MP:0012528 | abnormal zone of polarizing activity morphology | any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the |
| HP:0007703 | Abnormality of retinal pigmentation | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0002757 | Recurrent fractures | MP:0004675 | rib fractures | a crack or break in the bones forming the bony wall of the chest |
| HP:0002086 | Abnormality of the respiratory system | MP:0010919 | increased number of pulmonary neuroendocrine bodies | greater number of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the air |
| HP:0001328 | Specific learning disability | MP:0002802 | abnormal discrimination learning | anomaly in the ability to exhibit a differential response to different stimuli that is achieved by the reinforcement of the desired response for each particular stimulus |
| HP:0000478 | Abnormality of the eye | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0008069 | Neoplasm of the skin | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0001053 | Hypopigmented skin patches | MP:0004947 | skin inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the skin |
| HP:0007018 | Attention deficit hyperactivity disorder | MP:0001399 | hyperactivity | general restlessness or excessive movement; more frequent movement from one place to another or having an increased state of activity |
| HP:0007440 | Generalized hyperpigmentation | MP:0001188 | hyperpigmentation | excess of pigment in any or all tissues or a part of a tissue |
| HP:0010935 | Abnormality of the upper urinary tract | MP:0009886 | failure of palatal shelf elevation | the palatal shelves fail to move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue |
| HP:0009732 | Plexiform neurofibroma | MP:0010314 | increased neurofibroma incidence | greater than the expected number of benign, encapsulated nerve sheath tumors composed of Schwann cells, in a specific population in a given time period; proliferation is disordered and includes portions of nerve fibers |
| HP:0100545 | Arterial stenosis | MP:0010641 | descending aorta stenosis | diffuse constriction or narrowing of the descending aorta |
| HP:0000707 | Abnormality of the nervous system | MP:0013620 | increased internal diameter of femur | increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0007957 | Corneal opacity | MP:0009859 | eye opacity | changes in the eye grossly observed as a milky or cloudy appearance that may be progressive and persistent throughout life |
Mapped by homologous gene(Total Items:67) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001256 | Intellectual disability, mild | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002664 | Neoplasm | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002315 | Headache | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000098 | Tall stature | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0005506 | Chronic myelogenous leukemia | MP:0014130 | thymus cysts | presence of fluid-filled spaces lined by epithelium within the thymus; thymic cysts are rare mediastinal lesions and are thought to result from the congenital persistence of thymopharyngeal tracts and acquired, progressive cystic degeneration of thymic (H |
| HP:0000567 | Chorioretinal coloboma | MP:0013767 | decreased palatal rugae number | reduced number of transverse folds (ridges) of the mucosa located on the anterior third part of the secondary (hard) palate of most mammalian species |
| HP:0000995 | Melanocytic nevus | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0001482 | Subcutaneous nodule | MP:0013542 | abnormal submandibular gland branching morphogenesis | |
| HP:0100545 | Arterial stenosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0003401 | Paresthesia | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001100 | Heterochromia iridis | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0000501 | Glaucoma | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0007018 | Attention deficit hyperactivity disorder | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0003100 | Slender long bone | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000364 | Hearing abnormality | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000238 | Hydrocephalus | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0002970 | Genu varum | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000518 | Cataract | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000707 | Abnormality of the nervous system | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0011362 | Abnormal hair quantity | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000028 | Cryptorchidism | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001012 | Multiple lipomas | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007957 | Corneal opacity | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0010935 | Abnormality of the upper urinary tract | MP:0013389 | Meibomian gland hypoplasia | underdevelopment or reduced size of the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate, usually due to a reduced number of cells |
| HP:0002857 | Genu valgum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0009592 | Astrocytoma | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0007565 | Multiple cafe-au-lait spots | MP:0014040 | increased cellular sensitivity to DNA damaging agents | greater incidence of cell death following exposure to agents that cause DNA damage |
| HP:0002086 | Abnormality of the respiratory system | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0002757 | Recurrent fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001328 | Specific learning disability | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0009732 | Plexiform neurofibroma | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| HP:0001053 | Hypopigmented skin patches | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0009737 | Lisch nodules | MP:0013611 | abnormal bile duct epithelium morphology | any structural anomaly of the epithelium lining the intrahepatic and extrahepatic bile ducts |
| HP:0000520 | Proptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000826 | Precocious puberty | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000512 | Abnormal electroretinogram | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000823 | Delayed puberty | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000818 | Abnormality of the endocrine system | MP:0013367 | parotid gland inflammation | local accumulation of fluid, plasma proteins, and leukocytes in either of the largest of the major salivary glands situated below and in front of each ear |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0000924 | Abnormality of the skeletal system | MP:0014071 | increased cardiac muscle glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle |
| HP:0002666 | Pheochromocytoma | MP:0013774 | decreased KLRG1-positive T-helper cell number | reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation |
| HP:0100242 | Sarcoma | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0007440 | Generalized hyperpigmentation | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0002652 | Skeletal dysplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007703 | Abnormality of retinal pigmentation | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0007378 | Neoplasm of the gastrointestinal tract | MP:0013310 | abnormal adrenal gland development | aberrant formation or incomplete differentiation of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the m |
| HP:0000492 | Abnormality of the eyelid | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0002167 | Neurological speech impairment | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001909 | Leukemia | MP:0020186 | altered susceptibility to bacterial infection | a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria |
| HP:0000545 | Myopia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0008069 | Neoplasm of the skin | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002354 | Memory impairment | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0009735 | Spinal neurofibromas | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| HP:0000504 | Abnormality of vision | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0001387 | Joint stiffness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000478 | Abnormality of the eye | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001480 | Freckling | MP:0013787 | photophobia | abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e |
| HP:0002808 | Kyphosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000505 | Visual impairment | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0003272 | Abnormality of the hip bone | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000822 | Hypertension | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0002858 | Meningioma | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 114 |
|---|---|
| Disease | neurofibromatosis type 1 |
| Case | (Waiting for update.) |