형질
Abdominal bloating
임상 명칭: Abdominal distention
Distention of the abdomen.
요약
- 다른 명칭
- Abdominal swelling, Belly bloating, Bloating, Abdominal distension, Distended abdomen
이 페이지의 데이터
페이지 주소 끝에 .json을 붙이거나 application/json을 요청하면 JSON 형식으로 읽을 수 있습니다.
library(jsonlite)
url <- "https://dantelabs.com/traits/abdominal-distention.json"
page <- fromJSON(url)
page$trait$name109 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
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- Polycystic Liver Disease (1 and 2)Reads 4 of these genesALG8LRP5PRKCSHSEC63About this report →
- Congenital Diarrhoeas & EnteropathiesReads 7 of these genesSLC9A3STX3EPCAMMYO5BSLC5A1SLC26A3About this report →
Show 105 more reports
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- Hereditary Episodic AtaxiasReads 3 of these genesCACNA1ASCN2ASLC1A3About this report →
- Congenital Intestinal Atresia & Short BowelReads 2 of these genesCLMPTTC7AAbout this report →
- Metachromatic LeukodystrophyReads 2 of these genesARSAPSAPAbout this report →
- Neuroblastoma Predisposition (ALK and PHOX2B)Reads 2 of these genesALKPHOX2BAbout this report →
- Congenital HypothyroidismReads 6 of these genesFOXE1NKX2-1NKX2-5PAX8SLC26A4TSHRAbout this report →
- Disorder of Copper MetabolismReads 2 of these genesATP7BATP7AAbout this report →
- Familial Hemiplegic MigraineReads 2 of these genesATP1A2CACNA1AAbout this report →
- Hirschsprung Disease & Related Enteric NeurocristopathiesReads 2 of these genesPHOX2BRETAbout this report →
- Red Blood Cell Membrane DisordersReads 3 of these genesSLC4A1SPTA1SPTBAbout this report →
- Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Types A and B)Reads 1 of these genesSMPD1About this report →
- Asphyxiating Thoracic Dystrophy 2 (IFT80)Reads 1 of these genesIFT80About this report →
- ATP1A2-Related Fetal Akinesia with PolymicrogyriaReads 1 of these genesATP1A2About this report →
- Congenital Central Hypoventilation SyndromeReads 1 of these genesPHOX2BAbout this report →
- Curry-Jones Syndrome (Mosaic SMO Syndrome)Reads 1 of these genesSMOAbout this report →
- Feingold Syndrome Type 1Reads 1 of these genesMYCNAbout this report →
- Glucose-Galactose MalabsorptionReads 1 of these genesSLC5A1About this report →
- Jeune Asphyxiating Thoracic Dystrophy (DYNC2H1)Reads 1 of these genesDYNC2H1About this report →
- Lysosomal Acid Lipase Deficiency (Wolman Disease and CESD)Reads 1 of these genesLIPAAbout this report →
- Mowat-Wilson SyndromeReads 1 of these genesZEB2About this report →
- Pendred SyndromeReads 1 of these genesSLC26A4About this report →
- PLEC-Related Epidermolysis Bullosa and Muscular DystrophyReads 1 of these genesPLECAbout this report →
- Polycystic Ovary SyndromeReads 1 of these genesFSHRAbout this report →
- Short-Rib Thoracic Dysplasia 11 (DYNC2I2)Reads 1 of these genesDYNC2I2About this report →
- Short-Rib Thoracic Dysplasia 7 (WDR35)Reads 1 of these genesWDR35About this report →
- Short-Rib Thoracic Dysplasia 8 (DYNC2I1)Reads 1 of these genesDYNC2I1About this report →
- Smith-Lemli-Opitz SyndromeReads 1 of these genesDHCR7About this report →
- Wilson DiseaseReads 1 of these genesATP7BAbout this report →
- X-Linked Adrenoleukodystrophy (ABCD1)Reads 1 of these genesABCD1About this report →
- Thyroid CancerReads 5 of these genesNKX2-5PAX8SLC26A4TSHRRETAbout this report →
- Waardenburg SyndromeReads 2 of these genesEDN3EDNRBAbout this report →
- Epilepsy (Full Panel)Reads 10 of these genesPIGAATP1A2ATP1A3CACNA1AHACE1RHOBTB2About this report →
- Hepatic Porphyria DisordersReads 2 of these genesALADHMBSAbout this report →
- Congenital Disaccharidase DeficienciesReads 1 of these genesSIAbout this report →
- Hereditary Breast and Ovarian Cancer (BRCA1/2)Reads 1 of these genesBRCA1About this report →
- Hereditary Wilms TumourReads 1 of these genesWT1About this report →
- Otospondylomegaepiphyseal Dysplasia (OSMED)Reads 1 of these genesCOL2A1About this report →
- Severe Inherited Insulin ResistanceReads 1 of these genesINSRAbout this report →
- TRIP11-Related Skeletal DysplasiaReads 1 of these genesTRIP11About this report →
- Epidermolysis BullosaReads 3 of these genesITGA6ITGB4PLECAbout this report →
- Primary Mitochondrial DiseaseReads 8 of these genesPOLG2LIG3POLGRRM2BTYMPC2orf69About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 2 of these genesCOL2A1SLC26A2About this report →
- PorphyriaReads 2 of these genesALADHMBSAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 10 of these genesTRMULIG3POLGRRM2BTYMPATP7AAbout this report →
- Meckel SyndromeReads 2 of these genesTXNDC15TCTN2About this report →
- Fraser SyndromeReads 1 of these genesFREM2About this report →
- Hereditary Fructose Intolerance & Gluconeogenesis DefectsReads 1 of these genesALDOBAbout this report →
- HyperthyroidismReads 1 of these genesTSHRAbout this report →
- Immuno-Osseous DysplasiasReads 1 of these genesSMARCAL1About this report →
- Tetralogy of FallotReads 1 of these genesNKX2-5About this report →
- Aortic AneurysmReads 2 of these genesMYH11MYLKAbout this report →
- Inherited Congenital Heart DefectsReads 2 of these genesNKX2-5FLNAAbout this report →
- Lysosomal Storage DiseaseReads 4 of these genesLIPASMPD1ARSAPSAPAbout this report →
- Glycogen Storage DiseaseReads 2 of these genesSLC2A2PYGLAbout this report →
- Hereditary Vascular MalformationsReads 1 of these genesEPHB4About this report →
- Neonatal Diabetes MellitusReads 2 of these genesMNX1SLC2A2About this report →
- Lynch SyndromeReads 1 of these genesEPCAMAbout this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Sclerosing Bone Dysplasias (High Bone Mass)Reads 1 of these genesLRP5About this report →
- Syndromic CraniosynostosisReads 2 of these genesWDR35SMOAbout this report →
- Inherited Neurodegenerative DisordersReads 8 of these genesPOLGABCD1ATP1A3ATP7ACACNA1AHACE1About this report →
- Renal Tubular AcidosisReads 1 of these genesSLC4A1About this report →
- Syndromic and Metabolic CardiomyopathiesReads 1 of these genesNKX2-5About this report →
- Systemic Lupus ErythematosusReads 1 of these genesSAT1About this report →
- Congenital Disorders of GlycosylationReads 4 of these genesPIGAALG8DLL3MESP2About this report →
- VitreoretinopathyReads 2 of these genesCOL2A1LRP5About this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 1 of these genesWDR35About this report →
- Hereditary HypolipoproteinemiasReads 1 of these genesSAR1BAbout this report →
- Diabetes MellitusReads 2 of these genesMNX1SLC2A2About this report →
- Malignant Endocrine NeoplasmReads 1 of these genesRETAbout this report →
- Limb-Girdle Muscular DystrophyReads 2 of these genesPLECTNPO3About this report →
- Other Inherited LeukodystrophiesReads 3 of these genesABCD1ARSAPSAPAbout this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 2 of these genesATP1A3CACNA1AAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 2 of these genesATP1A3SLC2A1About this report →
- Autism Spectrum DisorderReads 1 of these genesCHD8About this report →
- Complex Neurodevelopmental Disorder With Motor FeaturesReads 1 of these genesCACNA1AAbout this report →
- Familial Intrahepatic CholestasisReads 1 of these genesMYO5BAbout this report →
- Hereditary Pheochromocytoma and ParagangliomaReads 1 of these genesRETAbout this report →
- Mendelian Susceptibility to Mycobacterial Disease (MSMD)Reads 1 of these genesIL12RB1About this report →
- HyperinsulinismReads 1 of these genesINSRAbout this report →
- Polycystic Kidney DiseaseReads 1 of these genesALG8About this report →
- Urinary and Renal System TumourReads 1 of these genesRETAbout this report →
- Hereditary Optic NeuropathyReads 1 of these genesATP1A3About this report →
- OsteopetrosisReads 1 of these genesLRP5About this report →
- Cutis LaxaReads 1 of these genesATP7AAbout this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesEPHB4About this report →
- Hereditary Spastic ParaplegiaReads 2 of these genesABCD1HACE1About this report →
- Fanconi AnemiaReads 1 of these genesBRCA1About this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesWT1About this report →
- Charcot-Marie-Tooth DiseaseReads 2 of these genesATP7AMPV17About this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGAAbout this report →
- Autoimmune DiseaseReads 1 of these genesSAT1About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 1 of these genesSMOAbout this report →
- Intellectual DisabilityReads 3 of these genesSCN2ACHD8ZEB2About this report →
- Congenital Myasthenic SyndromeReads 1 of these genesPLECAbout this report →
- Spinal Muscular AtrophyReads 1 of these genesATP7AAbout this report →
- Nephrotic SyndromeReads 1 of these genesNPHS1About this report →
- Inherited ThrombocytopeniasReads 1 of these genesFLI1About this report →
- Osteogenesis ImperfectaReads 1 of these genesLRP5About this report →
- Joubert Syndrome And Related DisordersReads 1 of these genesTCTN2About this report →
- DNA Repair DiseaseReads 1 of these genesBRCA1About this report →
- Female InfertilityReads 1 of these genesFSHRAbout this report →
- Leigh SyndromeReads 1 of these genesTRMUAbout this report →
- Hearing Loss and DeafnessReads 1 of these genesSLC26A4About this report →
- Other Inborn Errors of ImmunityReads 1 of these genesSMARCAL1About this report →
연관 유전자 135개: Abdominal bloating
이 유전자들의 변화는 Abdominal bloating 증상이 나타나는 희귀 질환을 일으킵니다. 이 형질을 가진 대부분의 사람에게는 이러한 질환이 없으며, 이 목록에 있는 유전자가 누구의 개인 유전체에 대해서도 말해 주는 것은 없습니다.
| 유전자 | 나타나는 빈도 | 질환 |
|---|---|---|
| ATP7BATPase copper transporting beta | 항상 | 질환 1개에서 나타남 |
| CLMPCXADR like cell adhesion molecule | 항상 | 질환 1개에서 나타남 |
| DHCR77-dehydrocholesterol reductase | 항상 | 질환 1개에서 나타남 |
| LIPAlipase A, lysosomal acid type | 항상 | 질환 2개에서 나타남 |
| LMOD1leiomodin 1 | 항상 | 질환 2개에서 나타남 |
| MYH11myosin heavy chain 11 | 항상 | 질환 2개에서 나타남 |
| MYL9myosin light chain 9 | 항상 | 질환 1개에서 나타남 |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | 항상 | 질환 1개에서 나타남 |
| PLD4phospholipase D family member 4 | 항상 | 질환 1개에서 나타남 |
| POLG2DNA polymerase gamma 2, accessory subunit | 항상 | 질환 1개에서 나타남 |
| SLC9A3solute carrier family 9 member A3 | 항상 | 질환 1개에서 나타남 |
| STX3syntaxin 3 | 항상 | 질환 2개에서 나타남 |
| TRMUtRNA mitochondrial 2-thiouridylase | 항상 | 질환 1개에서 나타남 |
| TXNDC15thioredoxin domain containing 15 | 항상 | 질환 1개에서 나타남 |
| ACTG2actin gamma 2, smooth muscle | 매우 자주 (80–99%) | 질환 3개에서 나타남 |
| ALG8ALG8 alpha-1,3-glucosyltransferase | 매우 자주 (80–99%) | 질환 2개에서 나타남 |
| BRCA1BRCA1 DNA repair associated | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| COL2A1collagen type II alpha 1 chain | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| DYNC2I1dynein 2 intermediate chain 1 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| DYNC2I2dynein 2 intermediate chain 2 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| EWSR1EWS RNA binding protein 1 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| FOXE1forkhead box E1 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| FSHRfollicle stimulating hormone receptor | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| IFT80intraflagellar transport 80 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| ITGA6integrin subunit alpha 6 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| ITGB4integrin subunit beta 4 | 매우 자주 (80–99%) | 질환 2개에서 나타남 |
| LIG3DNA ligase 3 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| LRP5LDL receptor related protein 5 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| MYLKmyosin light chain kinase | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| NKX2-1NK2 homeobox 1 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| NKX2-5NK2 homeobox 5 | 매우 자주 (80–99%) | 질환 2개에서 나타남 |
| PAX8paired box 8 | 매우 자주 (80–99%) | 질환 4개에서 나타남 |
| POLGDNA polymerase gamma, catalytic subunit | 매우 자주 (80–99%) | 질환 2개에서 나타남 |
| PRKCSHPRKCSH beta subunit of glucosidase II | 매우 자주 (80–99%) | 질환 2개에서 나타남 |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| SEC63SEC63 protein translocation regulator | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| SLC26A4solute carrier family 26 member 4 | 매우 자주 (80–99%) | 질환 2개에서 나타남 |
| TRIP11thyroid hormone receptor interactor 11 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| TSHRthyroid stimulating hormone receptor | 매우 자주 (80–99%) | 질환 2개에서 나타남 |
유전자 95개 더 보기
| 유전자 | 나타나는 빈도 | 질환 |
|---|---|---|
| TYMPthymidine phosphorylase | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| WDR35WD repeat domain 35 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| WT1WT1 transcription factor | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| ABCD1ATP binding cassette subfamily D member 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| ALKALK receptor tyrosine kinase | 자주 (30–79%) | 질환 1개에서 나타남 |
| ANO1anoctamin 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | 자주 (30–79%) | 질환 1개에서 나타남 |
| ATP7AATPase copper transporting alpha | 자주 (30–79%) | 질환 1개에서 나타남 |
| C2orf69chromosome 2 open reading frame 69 | 자주 (30–79%) | 질환 1개에서 나타남 |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | 자주 (30–79%) | 질환 1개에서 나타남 |
| COX11cytochrome c oxidase copper chaperone COX11 | 자주 (30–79%) | 질환 1개에서 나타남 |
| DYMdymeclin | 자주 (30–79%) | 질환 1개에서 나타남 |
| ECE1endothelin converting enzyme 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| EDN3endothelin 3 | 자주 (30–79%) | 질환 1개에서 나타남 |
| EDNRBendothelin receptor type B | 자주 (30–79%) | 질환 1개에서 나타남 |
| EPCAMepithelial cell adhesion molecule | 자주 (30–79%) | 질환 1개에서 나타남 |
| ERBB2erb-b2 receptor tyrosine kinase 2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| ERBB3erb-b2 receptor tyrosine kinase 3 | 자주 (30–79%) | 질환 1개에서 나타남 |
| FOCADfocadhesin | 자주 (30–79%) | 질환 1개에서 나타남 |
| GDNFglial cell derived neurotrophic factor | 자주 (30–79%) | 질환 1개에서 나타남 |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| INSRinsulin receptor | 자주 (30–79%) | 질환 2개에서 나타남 |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | 자주 (30–79%) | 질환 1개에서 나타남 |
| LMO1LIM domain only 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| MNX1motor neuron and pancreas homeobox 1 | 자주 (30–79%) | 질환 2개에서 나타남 |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| MYCNMYCN proto-oncogene, bHLH transcription factor | 자주 (30–79%) | 질환 1개에서 나타남 |
| MYO5Bmyosin VB | 자주 (30–79%) | 질환 1개에서 나타남 |
| NRTNneurturin | 자주 (30–79%) | 질환 1개에서 나타남 |
| PHOX2Bpaired like homeobox 2B | 자주 (30–79%) | 질환 1개에서 나타남 |
| PI4KAphosphatidylinositol 4-kinase alpha | 자주 (30–79%) | 질환 1개에서 나타남 |
| PLECplectin | 자주 (30–79%) | 질환 1개에서 나타남 |
| RETret proto-oncogene | 자주 (30–79%) | 질환 2개에서 나타남 |
| RHOBTB2Rho related BTB domain containing 2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SAR1Bsecretion associated Ras related GTPase 1B | 자주 (30–79%) | 질환 1개에서 나타남 |
| SCN2Asodium voltage-gated channel alpha subunit 2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SEMA3Csemaphorin 3C | 자주 (30–79%) | 질환 1개에서 나타남 |
| SEMA3Dsemaphorin 3D | 자주 (30–79%) | 질환 1개에서 나타남 |
| SLC1A3solute carrier family 1 member 3 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SLC2A1solute carrier family 2 member 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SLC2A2solute carrier family 2 member 2 | 자주 (30–79%) | 질환 2개에서 나타남 |
| SLC5A1solute carrier family 5 member 1 | 자주 (30–79%) | 질환 2개에서 나타남 |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SMOsmoothened, frizzled class receptor | 자주 (30–79%) | 질환 1개에서 나타남 |
| SMPD1sphingomyelin phosphodiesterase 1 | 자주 (30–79%) | 질환 2개에서 나타남 |
| SREBF1sterol regulatory element binding transcription factor 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| TCTN2tectonic family member 2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| TFAMtranscription factor A, mitochondrial | 자주 (30–79%) | 질환 1개에서 나타남 |
| TTC7Atetratricopeptide repeat domain 7A | 자주 (30–79%) | 질환 1개에서 나타남 |
| AGR2anterior gradient 2, protein disulphide isomerase family member | 가끔 (5–29%) | 질환 1개에서 나타남 |
| ALADaminolevulinate dehydratase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| ALDOBaldolase, fructose-bisphosphate B | 가끔 (5–29%) | 질환 1개에서 나타남 |
| ARSAarylsulfatase A | 가끔 (5–29%) | 질환 3개에서 나타남 |
| CHD8chromodomain helicase DNA binding protein 8 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| DDRGK1DDRGK domain containing 1 | 가끔 (5–29%) | 질환 2개에서 나타남 |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | 가끔 (5–29%) | 질환 1개에서 나타남 |
| HMBShydroxymethylbilane synthase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| IFT56intraflagellar transport 56 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| IL12Ainterleukin 12A | 가끔 (5–29%) | 질환 1개에서 나타남 |
| IL12RB1interleukin 12 receptor subunit beta 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| IPO8importin 8 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| IRAK1interleukin 1 receptor associated kinase 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| IRF5interferon regulatory factor 5 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MMEL1membrane metalloendopeptidase like 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MPV17mitochondrial inner membrane protein MPV17 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| POU2AF1POU class 2 homeobox associating factor 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PSAPprosaposin | 가끔 (5–29%) | 질환 3개에서 나타남 |
| PYGLglycogen phosphorylase L | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SAT1spermidine/spermine N1-acetyltransferase 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SIsucrase-isomaltase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SPIBSpi-B transcription factor | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SPP1secreted phosphoprotein 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| STAT4signal transducer and activator of transcription 4 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| TNFSF15TNF superfamily member 15 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| TNPO3transportin 3 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| TREHtrehalase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| ANK1ankyrin 1 | 드물게 (1–4%) | 질환 1개에서 나타남 |
| EPB42erythrocyte membrane protein band 4.2 | 드물게 (1–4%) | 질환 1개에서 나타남 |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | 드물게 (1–4%) | 질환 1개에서 나타남 |
| SPTA1spectrin alpha, erythrocytic 1 | 드물게 (1–4%) | 질환 1개에서 나타남 |
| SPTBspectrin beta, erythrocytic | 드물게 (1–4%) | 질환 1개에서 나타남 |
| DLL3delta like canonical Notch ligand 3 | 기록되지 않음 | 질환 1개에서 나타남 |
| EPHB4EPH receptor B4 | 기록되지 않음 | 질환 1개에서 나타남 |
| FLNAfilamin A | 기록되지 않음 | 질환 1개에서 나타남 |
| FREM2FRAS1 related extracellular matrix 2 | 기록되지 않음 | 질환 1개에서 나타남 |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | 기록되지 않음 | 질환 1개에서 나타남 |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | 기록되지 않음 | 질환 1개에서 나타남 |
| KRT18keratin 18 | 기록되지 않음 | 질환 1개에서 나타남 |
| MESP2mesoderm posterior bHLH transcription factor 2 | 기록되지 않음 | 질환 1개에서 나타남 |
| NPHS1NPHS1 adhesion molecule, nephrin | 기록되지 않음 | 질환 1개에서 나타남 |
| SLC26A2solute carrier family 26 member 2 | 기록되지 않음 | 질환 1개에서 나타남 |
| SLC26A3solute carrier family 26 member 3 | 기록되지 않음 | 질환 1개에서 나타남 |
| SPINT2serine peptidase inhibitor, Kunitz type 2 | 기록되지 않음 | 질환 1개에서 나타남 |
| ZEB2zinc finger E-box binding homeobox 2 | 기록되지 않음 | 질환 1개에서 나타남 |
Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.
하위 형질
상위 형질
출처
- Human Phenotype Ontology, 버전 2026-09-01: 특징, 명칭, 정의 및 이와 연결된 유전자입니다. 자세한 내용은 hpo.jax.org에서 확인하실 수 있습니다.
- 데이터 버전 2026.10.19-9814e911.
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