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Zaloguj sięZapytajZsekwencjonuj swój genom↗
Cecha
Short neck
Diminished length of the neck.
Podsumowanie
- Znana także jako
- Decreased length of neck
AtlasKomu pomagamyNasza naukaProduktyWyniki
Zaloguj sięZapytajZsekwencjonuj swój genom↗
Ta strona jako dane
Aby odczytać ją jako JSON, dodaj .json na końcu adresu strony lub zażądaj application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/short-neck.json"
page <- fromJSON(url)
page$trait$nameShort neckHP:0000470
AtlasKomu pomagamyNasza naukaProduktyWyniki
Zaloguj sięZapytajZsekwencjonuj swój genom↗
Odczytaj geny powiązane z Short neck oraz resztę swojego genomu za pomocą jednego badania.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni
Zamawiam Genome Test121 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.
- Bardet-Biedl and Alström SyndromesReads 22 of these genesBBS2ARL6BBIP1BBS1BBS10BBS12About this report →
- Noonan SyndromeReads 18 of these genesBRAFNRASSOS2SPRED2HRASKRASAbout this report →
- Diamond-Blackfan AnemiaReads 14 of these genesGATA1HEATR3RPL11RPL15RPL26RPL35AAbout this report →
- Congenital Disorders of GlycosylationReads 27 of these genesALG9COG1COG7B3GLCTDLL3HES7About this report →
Show 117 more reports
- Cornelia de Lange SyndromeReads 6 of these genesBRD4HDAC8NIPBLRAD21SMC1ASMC3About this report →
- Intellectual DisabilityReads 36 of these genesPGAP1PRMT7BRD4CUL4BTBL1XR1TCF4About this report →
- Hypertrophic CardiomyopathyReads 18 of these genesBRAFNRASSOS2SPRED2HRASKRASAbout this report →
- GPI Anchor Biosynthesis DefectsReads 9 of these genesPIGNPIGAPIGYPGAP2PGAP3PIGLAbout this report →
- Immuno-Osseous DysplasiasReads 3 of these genesSMARCAL1RMRPRNU4ATACAbout this report →
- Congenital MyopathiesReads 7 of these genesRYR1TPM2ACTA1CFL2KLHL41LMOD3About this report →
- Achondrogenesis panelReads 3 of these genesCOL2A1TRIP11SLC26A2About this report →
- Müllerian Aplasia (MRKH Syndrome)Reads 2 of these genesTBX6WNT4About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 7 of these genesLHX3PTCH1GLI2HESX1LHX4POU1F1About this report →
- DNA Repair DiseaseReads 9 of these genesFANCIPALB2NBNERCC1ERCC2ERCC5About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 4 of these genesCOL2A1SLC26A2XYLT1FN1About this report →
- Lysosomal Storage DiseaseReads 9 of these genesGALNSGNPTGIDUAGNPTABGNSGUSBAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 7 of these genesSCN4ATOR1ANR4A2ACTBCOL6A3TAF1About this report →
- Mucolipidoses (ML II, ML III and ML IV)Reads 2 of these genesGNPTGGNPTABAbout this report →
- Inherited Congenital Heart DefectsReads 4 of these genesFLNATBX5GATA4NKX2-5About this report →
- Syndromic CraniosynostosisReads 5 of these genesFGFR3WDR35FGFR1MEGF8RAB23About this report →
- NeurofibromatosisReads 2 of these genesLZTR1NF1About this report →
- Pseudohypoparathyroidism & GNAS-Inactivation DisordersReads 2 of these genesGNASSTX16About this report →
- 22q11.2 Deletion SyndromeReads 1 of these genesTBX1About this report →
- BAP1 Tumour Predisposition SyndromeReads 1 of these genesBAP1About this report →
- Deficiency of Adenosine Deaminase 2 (DADA2)Reads 1 of these genesADA2About this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- GM1 Gangliosidosis and Morquio B SyndromeReads 1 of these genesGLB1About this report →
- Hajdu-Cheney SyndromeReads 1 of these genesNOTCH2About this report →
- Hereditary RetinoblastomaReads 1 of these genesRB1About this report →
- Mucopolysaccharidosis Type I (Hurler and Scheie Syndromes)Reads 1 of these genesIDUAAbout this report →
- Mucopolysaccharidosis Type II (Hunter Syndrome)Reads 1 of these genesIDSAbout this report →
- Mucopolysaccharidosis Type IVA (Morquio A Syndrome)Reads 1 of these genesGALNSAbout this report →
- Mucopolysaccharidosis Type VII (Sly Syndrome)Reads 1 of these genesGUSBAbout this report →
- PALB2 related diseasesReads 1 of these genesPALB2About this report →
- Rett Syndrome and MECP2-Related DisordersReads 1 of these genesMECP2About this report →
- SHOX Deficiency (Leri-Weill and Langer Dysplasia)Reads 1 of these genesSHOXAbout this report →
- Smith-Lemli-Opitz SyndromeReads 1 of these genesDHCR7About this report →
- Joubert Syndrome And Related DisordersReads 6 of these genesKIF7CEP290KIAA0586MKS1NPHP1TCTN2About this report →
- Hypogonadotropic HypogonadismReads 7 of these genesLHX3FGFR1HESX1LHX4POU1F1PROP1About this report →
- Meckel SyndromeReads 3 of these genesTXNDC15MKS1TCTN2About this report →
- Fanconi AnemiaReads 4 of these genesFANCIPALB2FANCBFANCLAbout this report →
- Congenital Muscular DystrophiesReads 5 of these genesCOL12A1COL6A1COL6A2COL6A3DOK7About this report →
- Polycystic Kidney DiseaseReads 3 of these genesALG9IFT140ALG8About this report →
- Hereditary Methaemoglobinaemia and Unstable HaemoglobinsReads 2 of these genesHBA1HBA2About this report →
- ThalassaemiaReads 2 of these genesHBA1HBA2About this report →
- Retinitis PigmentosaReads 7 of these genesFLVCR1IFT140BBS2ARL6CFAP418IFT172About this report →
- Colorectal Cancer & PolyposisReads 2 of these genesAPCPOLEAbout this report →
- Congenital Cranial Dysinnervation DisordersReads 2 of these genesCHN1MAFBAbout this report →
- Epilepsy (Full Panel)Reads 10 of these genesFLNASMC1AATP6V1B2OTUD6BPIGAGABRA3About this report →
- Disorders of Glycine & Serine MetabolismReads 2 of these genesPHGDHPSAT1About this report →
- PolycythemiaReads 2 of these genesHBA1HBA2About this report →
- Activated PI3K-Delta Syndrome (APDS)Reads 1 of these genesPIK3CDAbout this report →
- Alagille SyndromeReads 1 of these genesNOTCH2About this report →
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyReads 1 of these genesNOTCH3About this report →
- Fibrodysplasia Ossificans ProgressivaReads 1 of these genesGNASAbout this report →
- Hereditary FibromatosesReads 1 of these genesANTXR2About this report →
- Hereditary Gingival FibromatosisReads 1 of these genesSOS1About this report →
- Juvenile Polyposis SyndromeReads 1 of these genesSMAD4About this report →
- Malignant Hyperthermia SusceptibilityReads 1 of these genesRYR1About this report →
- Nevoid Basal Cell Carcinoma (Gorlin) SyndromeReads 1 of these genesPTCH1About this report →
- Inherited ThrombocytopeniasReads 4 of these genesACTBFLI1GP1BBGATA1About this report →
- Limb-Girdle Muscular DystrophyReads 4 of these genesCOL6A1COL6A2COL6A3TRIM32About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 2 of these genesNSD1SNRPNAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 5 of these genesFLVCR1CEP290KIAA0586MKS1WWOXAbout this report →
- Ehlers-Danlos SyndromeReads 3 of these genesCOL12A1AEBP1B3GALT6About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 3 of these genesTECPR2AIFM1CRLF1About this report →
- Congenital Myasthenic SyndromeReads 3 of these genesSCN4ADOK7MUSKAbout this report →
- VitreoretinopathyReads 3 of these genesCOL2A1COL11A1XYLT2About this report →
- Familial Periodic ParalysisReads 1 of these genesSCN4AAbout this report →
- Hirschsprung Disease & Related Enteric NeurocristopathiesReads 1 of these genesKIFBPAbout this report →
- Monogenic Precocious PubertyReads 1 of these genesDLK1About this report →
- Tetralogy of FallotReads 1 of these genesNKX2-5About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 3 of these genesERCC1ERCC2ERCC5About this report →
- Dilated CardiomyopathyReads 4 of these genesFHL1ABCC9EMDRAF1About this report →
- Thyroid CancerReads 3 of these genesGNASNKX2-5STX16About this report →
- Osteogenesis ImperfectaReads 3 of these genesNBASXYLT2POLR3AAbout this report →
- Familial Atrial FibrillationReads 1 of these genesGJA5About this report →
- Hereditary Hemorrhagic TelangiectasiaReads 1 of these genesSMAD4About this report →
- Mucopolysaccharidosis Type III (Sanfilippo Syndrome)Reads 1 of these genesGNSAbout this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesNSD1About this report →
- Polycystic Liver Disease (1 and 2)Reads 1 of these genesALG8About this report →
- Other Inborn Errors of ImmunityReads 7 of these genesIL6STSMARCAL1KRASNBASRMRPTBX1About this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 2 of these genesGATA4ATRXAbout this report →
- Hereditary Corneal DystrophiesReads 2 of these genesNLRP1TCF4About this report →
- Neonatal Diabetes MellitusReads 2 of these genesHNF1BGATA4About this report →
- Nephronophthisis and Senior-Løken SyndromeReads 2 of these genesNPHP1SDCCAG8About this report →
- Autosomal Dominant Tubulointerstitial Kidney DiseaseReads 1 of these genesHNF1BAbout this report →
- Mosaic Variegated Aneuploidy SyndromeReads 1 of these genesBUB1BAbout this report →
- Autoimmune DiseaseReads 2 of these genesKRASCHRNGAbout this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Syndromic and Metabolic CardiomyopathiesReads 1 of these genesNKX2-5About this report →
- Hearing Loss and DeafnessReads 4 of these genesCOL11A1COL11A2ACTG1AIFM1About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 2 of these genesCLDN11POLR3AAbout this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 1 of these genesMAN2B1About this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 1 of these genesKRASAbout this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 1 of these genesWDR35About this report →
- Hyper-IgE SyndromeReads 1 of these genesIL6STAbout this report →
- Monogenic Obesity (Leptin-Melanocortin Pathway)Reads 1 of these genesCEP19About this report →
- Hereditary Spastic ParaplegiaReads 3 of these genesTECPR2HPDLWASHC5About this report →
- Diabetes MellitusReads 2 of these genesHNF1BGATA4About this report →
- Hereditary Sideroblastic AnaemiasReads 1 of these genesHSPA9About this report →
- Purine & Pyrimidine Metabolism DisordersReads 1 of these genesDPYDAbout this report →
- Autism Spectrum DisorderReads 1 of these genesTBR1About this report →
- Breast and Ovarian Cancer Genes Beyond BRCA1/2Reads 1 of these genesPALB2About this report →
- Inherited Platelet Function DisordersReads 1 of these genesGP1BBAbout this report →
- Kidney CancerReads 1 of these genesBAP1About this report →
- Marfan Like SyndromesReads 1 of these genesFBN2About this report →
- LipodystrophyReads 1 of these genesPLAAT3About this report →
- Maturity-Onset Diabetes Of The YoungReads 1 of these genesHNF1BAbout this report →
- Urinary and Renal System TumourReads 1 of these genesBAP1About this report →
- Myofibrillar MyopathiesReads 1 of these genesRYR1About this report →
- Leigh SyndromeReads 2 of these genesHPDLAIFM1About this report →
- Charcot-Marie-Tooth DiseaseReads 2 of these genesTRPV4AIFM1About this report →
- Other Inherited LeukodystrophiesReads 2 of these genesCLDN11POLR3AAbout this report →
- Congenital HypothyroidismReads 1 of these genesNKX2-5About this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 1 of these genesCEP290About this report →
- Nephrotic SyndromeReads 1 of these genesLAMA5About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesADA2About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesNLRP1About this report →
- Female InfertilityReads 1 of these genesWNT4About this report →
- Primary Mitochondrial DiseaseReads 1 of these genesAIFM1About this report →
Odczytaj geny powiązane z Short neck oraz resztę swojego genomu za pomocą jednego badania.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni
Zamawiam Genome Test414 genów powiązanych z Short neck
Zmiany w tych genach powodują rzadkie choroby, w których występuje Short neck. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ACANaggrecan | Zawsze | W 2 chorobach |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Zawsze | W 3 chorobach |
| AMMECR1AMMECR nuclear protein 1 | Zawsze | W 1 chorobie |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Zawsze | W 5 chorobach |
| BRF1BRF1 general transcription factor IIIB subunit | Zawsze | W 2 chorobach |
| COG1component of oligomeric golgi complex 1 | Zawsze | W 2 chorobach |
| COG7component of oligomeric golgi complex 7 | Zawsze | W 2 chorobach |
| COL2A1collagen type II alpha 1 chain | Zawsze | W 7 chorobach |
| CUL7cullin 7 | Zawsze | W 2 chorobach |
| DDRGK1DDRGK domain containing 1 | Zawsze | W 2 chorobach |
| DMRT2doublesex and mab-3 related transcription factor 2 | Zawsze | W 1 chorobie |
| DONSONDNA replication fork stabilization factor DONSON | Zawsze | W 2 chorobach |
| DYMdymeclin | Zawsze | W 3 chorobach |
| ECEL1endothelin converting enzyme like 1 | Zawsze | W 1 chorobie |
| FANCIFA complementation group I | Zawsze | W 1 chorobie |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Zawsze | W 2 chorobach |
| FGFR3fibroblast growth factor receptor 3 | Zawsze | W 1 chorobie |
| FHL1four and a half LIM domains 1 | Zawsze | W 3 chorobach |
| FLNAfilamin A | Zawsze | W 1 chorobie |
| FLVCR1FLVCR choline and heme transporter 1 | Zawsze | W 1 chorobie |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Zawsze | W 1 chorobie |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Zawsze | W 1 chorobie |
| GNPNAT1glucosamine-phosphate N-acetyltransferase 1 | Zawsze | W 1 chorobie |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Zawsze | W 1 chorobie |
| HYAL2hyaluronidase 2 | Zawsze | W 1 chorobie |
| IFT140intraflagellar transport 140 | Zawsze | W 2 chorobach |
| IGBP1immunoglobulin binding protein 1 | Zawsze | W 2 chorobach |
| IL6STinterleukin 6 cytokine family signal transducer | Zawsze | W 1 chorobie |
| INTUinturned planar cell polarity protein | Zawsze | W 2 chorobach |
| KIF7kinesin family member 7 | Zawsze | W 1 chorobie |
| LAMA5laminin subunit alpha 5 | Zawsze | W 1 chorobie |
| MRPL12mitochondrial ribosomal protein L12 | Zawsze | W 1 chorobie |
| MRPS28mitochondrial ribosomal protein S28 | Zawsze | W 1 chorobie |
| MYH3myosin heavy chain 3 | Zawsze | W 5 chorobach |
| NEK9NIMA related kinase 9 | Zawsze | W 1 chorobie |
| NKX3-2NK3 homeobox 2 | Zawsze | W 1 chorobie |
| NLRP1NLR family pyrin domain containing 1 | Zawsze | W 1 chorobie |
| NRASNRAS proto-oncogene, GTPase | Zawsze | W 1 chorobie |
| NUP188nucleoporin 188 | Zawsze | W 1 chorobie |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Zawsze | W 1 chorobie |
Pokaż jeszcze 374 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| PALB2partner and localizer of BRCA2 | Zawsze | W 1 chorobie |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Zawsze | W 1 chorobie |
| PHGDHphosphoglycerate dehydrogenase | Zawsze | W 1 chorobie |
| PRMT7protein arginine methyltransferase 7 | Zawsze | W 2 chorobach |
| RAB33BRAB33B, member RAS oncogene family | Zawsze | W 1 chorobie |
| RAB5IFRAB5 interacting factor | Zawsze | W 1 chorobie |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Zawsze | W 2 chorobach |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Zawsze | W 2 chorobach |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Zawsze | W 1 chorobie |
| SPRED2sprouty related EVH1 domain containing 2 | Zawsze | W 1 chorobie |
| TBX15T-box transcription factor 15 | Zawsze | W 2 chorobach |
| TBX5T-box transcription factor 5 | Zawsze | W 1 chorobie |
| TECPR2tectonin beta-propeller repeat containing 2 | Zawsze | W 2 chorobach |
| TIMM50translocase of inner mitochondrial membrane 50 | Zawsze | W 1 chorobie |
| TOR1Atorsin family 1 member A | Zawsze | W 1 chorobie |
| TRIP11thyroid hormone receptor interactor 11 | Zawsze | W 2 chorobach |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Zawsze | W 4 chorobach |
| TXNDC15thioredoxin domain containing 15 | Zawsze | W 1 chorobie |
| WDR35WD repeat domain 35 | Zawsze | W 1 chorobie |
| ANTXR2ANTXR cell adhesion molecule 2 | Bardzo często (80–99%) | W 1 chorobie |
| B3GLCTbeta 3-glucosyltransferase | Bardzo często (80–99%) | W 2 chorobach |
| BMPERBMP binding endothelial regulator | Bardzo często (80–99%) | W 2 chorobach |
| BRD4bromodomain containing 4 | Bardzo często (80–99%) | W 1 chorobie |
| CANT1calcium activated nucleotidase 1 | Bardzo często (80–99%) | W 2 chorobach |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Bardzo często (80–99%) | W 2 chorobach |
| CD96CD96 molecule | Bardzo często (80–99%) | W 1 chorobie |
| CDH11cadherin 11 | Bardzo często (80–99%) | W 1 chorobie |
| COL11A1collagen type XI alpha 1 chain | Bardzo często (80–99%) | W 2 chorobach |
| COL11A2collagen type XI alpha 2 chain | Bardzo często (80–99%) | W 2 chorobach |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Bardzo często (80–99%) | W 1 chorobie |
| CUL4Bcullin 4B | Bardzo często (80–99%) | W 1 chorobie |
| DLL3delta like canonical Notch ligand 3 | Bardzo często (80–99%) | W 2 chorobach |
| FAM20CFAM20C golgi associated secretory pathway kinase | Bardzo często (80–99%) | W 2 chorobach |
| GDF3growth differentiation factor 3 | Bardzo często (80–99%) | W 1 chorobie |
| GDF6growth differentiation factor 6 | Bardzo często (80–99%) | W 2 chorobach |
| HDAC8histone deacetylase 8 | Bardzo często (80–99%) | W 2 chorobach |
| HES7hes family bHLH transcription factor 7 | Bardzo często (80–99%) | W 2 chorobach |
| HNF1BHNF1 homeobox B | Bardzo często (80–99%) | W 1 chorobie |
| HRASHRas proto-oncogene, GTPase | Bardzo często (80–99%) | W 2 chorobach |
| IDUAalpha-L-iduronidase | Bardzo często (80–99%) | W 3 chorobach |
| INPPL1inositol polyphosphate phosphatase like 1 | Bardzo często (80–99%) | W 2 chorobach |
| KRASKRas proto-oncogene, GTPase | Bardzo często (80–99%) | W 4 chorobach |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Bardzo często (80–99%) | W 1 chorobie |
| LHX3LIM homeobox 3 | Bardzo często (80–99%) | W 3 chorobach |
| MAU2MAU2 sister chromatid cohesion factor | Bardzo często (80–99%) | W 1 chorobie |
| MEOX1mesenchyme homeobox 1 | Bardzo często (80–99%) | W 2 chorobach |
| MESP2mesoderm posterior bHLH transcription factor 2 | Bardzo często (80–99%) | W 3 chorobach |
| NALCNsodium leak channel, non-selective | Bardzo często (80–99%) | W 3 chorobach |
| NBASNBAS subunit of NRZ tethering complex | Bardzo często (80–99%) | W 1 chorobie |
| NBNnibrin | Bardzo często (80–99%) | W 1 chorobie |
| NIPBLNIPBL cohesin loading factor | Bardzo często (80–99%) | W 2 chorobach |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Bardzo często (80–99%) | W 1 chorobie |
| OBSL1obscurin like cytoskeletal adaptor 1 | Bardzo często (80–99%) | W 2 chorobach |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Bardzo często (80–99%) | W 2 chorobach |
| PSAT1phosphoserine aminotransferase 1 | Bardzo często (80–99%) | W 2 chorobach |
| PTCH1patched 1 | Bardzo często (80–99%) | W 1 chorobie |
| RAD21RAD21 cohesin complex component | Bardzo często (80–99%) | W 1 chorobie |
| RIPPLY2ripply transcriptional repressor 2 | Bardzo często (80–99%) | W 1 chorobie |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Bardzo często (80–99%) | W 2 chorobach |
| RNU4ATACRNA, U4atac small nuclear | Bardzo często (80–99%) | W 2 chorobach |
| RSPRY1ring finger and SPRY domain containing 1 | Bardzo często (80–99%) | W 2 chorobach |
| SCYL2SCY1 like pseudokinase 2 | Bardzo często (80–99%) | W 1 chorobie |
| SHOXSHOX homeobox | Bardzo często (80–99%) | W 1 chorobie |
| SLC26A2solute carrier family 26 member 2 | Bardzo często (80–99%) | W 3 chorobach |
| SLC35D1solute carrier family 35 member D1 | Bardzo często (80–99%) | W 2 chorobach |
| SMC1Astructural maintenance of chromosomes 1A | Bardzo często (80–99%) | W 2 chorobach |
| SMC3structural maintenance of chromosomes 3 | Bardzo często (80–99%) | W 2 chorobach |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| SOX9SRY-box transcription factor 9 | Bardzo często (80–99%) | W 1 chorobie |
| TBC1D7TBC1 domain family member 7 | Bardzo często (80–99%) | W 1 chorobie |
| TBL1XR1TBL1X/Y related 1 | Bardzo często (80–99%) | W 2 chorobach |
| TBR1T-box brain transcription factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| TBX6T-box transcription factor 6 | Bardzo często (80–99%) | W 3 chorobach |
| TCF4transcription factor 4 | Bardzo często (80–99%) | W 2 chorobach |
| TMCO1transmembrane and coiled-coil domains 1 | Bardzo często (80–99%) | W 2 chorobach |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Bardzo często (80–99%) | W 2 chorobach |
| WNT4Wnt family member 4 | Bardzo często (80–99%) | W 2 chorobach |
| XYLT1xylosyltransferase 1 | Bardzo często (80–99%) | W 2 chorobach |
| XYLT2xylosyltransferase 2 | Bardzo często (80–99%) | W 1 chorobie |
| ABCC9ATP binding cassette subfamily C member 9 | Często (30–79%) | W 2 chorobach |
| ACTBactin beta | Często (30–79%) | W 2 chorobach |
| ACTG1actin gamma 1 | Często (30–79%) | W 2 chorobach |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Często (30–79%) | W 1 chorobie |
| ANKRD11ankyrin repeat domain 11 | Często (30–79%) | W 2 chorobach |
| ARVCFARVCF delta catenin family member | Często (30–79%) | W 1 chorobie |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Często (30–79%) | W 2 chorobach |
| BBS2Bardet-Biedl syndrome 2 | Często (30–79%) | W 2 chorobach |
| BPTFbromodomain PHD finger transcription factor | Często (30–79%) | W 1 chorobie |
| C2CD3C2 domain containing 3 centriole elongation regulator | Często (30–79%) | W 1 chorobie |
| CBLCbl proto-oncogene | Często (30–79%) | W 1 chorobie |
| CHRNGcholinergic receptor nicotinic gamma subunit | Często (30–79%) | W 1 chorobie |
| CLDN11claudin 11 | Często (30–79%) | W 1 chorobie |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Często (30–79%) | W 1 chorobie |
| COG8component of oligomeric golgi complex 8 | Często (30–79%) | W 1 chorobie |
| COL12A1collagen type XII alpha 1 chain | Często (30–79%) | W 1 chorobie |
| COL6A1collagen type VI alpha 1 chain | Często (30–79%) | W 1 chorobie |
| COL6A2collagen type VI alpha 2 chain | Często (30–79%) | W 2 chorobach |
| COL6A3collagen type VI alpha 3 chain | Często (30–79%) | W 1 chorobie |
| COMTcatechol-O-methyltransferase | Często (30–79%) | W 1 chorobie |
| CTNND2catenin delta 2 | Często (30–79%) | W 1 chorobie |
| DCCDCC netrin 1 receptor | Często (30–79%) | W 1 chorobie |
| DDR2discoidin domain receptor tyrosine kinase 2 | Często (30–79%) | W 1 chorobie |
| DDX3XDEAD-box helicase 3 X-linked | Często (30–79%) | W 1 chorobie |
| DHCR77-dehydrocholesterol reductase | Często (30–79%) | W 1 chorobie |
| DLK1delta like non-canonical Notch ligand 1 | Często (30–79%) | W 1 chorobie |
| EMDemerin | Często (30–79%) | W 1 chorobie |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Często (30–79%) | W 1 chorobie |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Często (30–79%) | W 1 chorobie |
| ERCC5ERCC excision repair 5, endonuclease | Często (30–79%) | W 1 chorobie |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Często (30–79%) | W 1 chorobie |
| FAAP100FA core complex associated protein 100 | Często (30–79%) | W 1 chorobie |
| FANCBFA complementation group B | Często (30–79%) | W 1 chorobie |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Często (30–79%) | W 1 chorobie |
| FGFR1fibroblast growth factor receptor 1 | Często (30–79%) | W 1 chorobie |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Często (30–79%) | W 1 chorobie |
| GATA4GATA binding protein 4 | Często (30–79%) | W 1 chorobie |
| GLE1GLE1 RNA export mediator | Często (30–79%) | W 2 chorobach |
| GNASGNAS complex locus | Często (30–79%) | W 6 chorobach |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Często (30–79%) | W 1 chorobie |
| GNSglucosamine (N-acetyl)-6-sulfatase | Często (30–79%) | W 1 chorobie |
| GP1BBglycoprotein Ib platelet subunit beta | Często (30–79%) | W 1 chorobie |
| GPC3glypican 3 | Często (30–79%) | W 1 chorobie |
| GPC4glypican 4 | Często (30–79%) | W 1 chorobie |
| GPKOWG-patch domain and KOW motifs | Często (30–79%) | W 1 chorobie |
| GUSBglucuronidase beta | Często (30–79%) | W 2 chorobach |
| HBA1hemoglobin subunit alpha 1 | Często (30–79%) | W 1 chorobie |
| HBA2hemoglobin subunit alpha 2 | Często (30–79%) | W 1 chorobie |
| HIRAhistone cell cycle regulator | Często (30–79%) | W 1 chorobie |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Często (30–79%) | W 1 chorobie |
| HSPG2heparan sulfate proteoglycan 2 | Często (30–79%) | W 3 chorobach |
| INTS1integrator complex subunit 1 | Często (30–79%) | W 1 chorobie |
| JMJD1Cjumonji domain containing 1C | Często (30–79%) | W 1 chorobie |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Często (30–79%) | W 1 chorobie |
| LZTR1leucine zipper like post translational regulator 1 | Często (30–79%) | W 2 chorobach |
| MAP2K1mitogen-activated protein kinase kinase 1 | Często (30–79%) | W 4 chorobach |
| MAP2K2mitogen-activated protein kinase kinase 2 | Często (30–79%) | W 2 chorobach |
| MAPK1mitogen-activated protein kinase 1 | Często (30–79%) | W 1 chorobie |
| MEG3maternally expressed 3 | Często (30–79%) | W 1 chorobie |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Często (30–79%) | W 1 chorobie |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Często (30–79%) | W 1 chorobie |
| NKX2-5NK2 homeobox 5 | Często (30–79%) | W 1 chorobie |
| NOTCH2notch receptor 2 | Często (30–79%) | W 2 chorobach |
| NOTCH3notch receptor 3 | Często (30–79%) | W 2 chorobach |
| NSD1nuclear receptor binding SET domain protein 1 | Często (30–79%) | W 1 chorobie |
| NUP88nucleoporin 88 | Często (30–79%) | W 1 chorobie |
| OTUD6BOTU deubiquitinase 6B | Często (30–79%) | W 2 chorobach |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Często (30–79%) | W 1 chorobie |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Często (30–79%) | W 1 chorobie |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Często (30–79%) | W 1 chorobie |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Często (30–79%) | W 2 chorobach |
| PKDCCprotein kinase domain containing, cytoplasmic | Często (30–79%) | W 1 chorobie |
| POGZpogo transposable element derived with ZNF domain | Często (30–79%) | W 2 chorobach |
| POLR3ARNA polymerase III subunit A | Często (30–79%) | W 1 chorobie |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Często (30–79%) | W 1 chorobie |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Często (30–79%) | W 1 chorobie |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Często (30–79%) | W 2 chorobach |
| PUF60poly(U) binding splicing factor 60 | Często (30–79%) | W 3 chorobach |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Często (30–79%) | W 2 chorobach |
| RB1RB transcriptional corepressor 1 | Często (30–79%) | W 1 chorobie |
| RDH11retinol dehydrogenase 11 | Często (30–79%) | W 1 chorobie |
| RFT1RFT1 glycolipid translocator homolog | Często (30–79%) | W 1 chorobie |
| RIPK4receptor interacting serine/threonine kinase 4 | Często (30–79%) | W 1 chorobie |
| RIT1Ras like without CAAX 1 | Często (30–79%) | W 1 chorobie |
| ROBO3roundabout guidance receptor 3 | Często (30–79%) | W 1 chorobie |
| ROR2ROR family WNT receptor 2 | Często (30–79%) | W 2 chorobach |
| RREB1ras responsive element binding protein 1 | Często (30–79%) | W 1 chorobie |
| RTL1retrotransposon Gag like 1 | Często (30–79%) | W 1 chorobie |
| RYR1ryanodine receptor 1 | Często (30–79%) | W 1 chorobie |
| SEC24CSEC24 homolog C, COPII component | Często (30–79%) | W 1 chorobie |
| SEMA5Asemaphorin 5A | Często (30–79%) | W 1 chorobie |
| SETBP1SET binding protein 1 | Często (30–79%) | W 2 chorobach |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Często (30–79%) | W 1 chorobie |
| SMSspermine synthase | Często (30–79%) | W 1 chorobie |
| SRCAPSnf2 related CREBBP activator protein | Często (30–79%) | W 2 chorobach |
| STX16syntaxin 16 | Często (30–79%) | W 1 chorobie |
| TAF1TATA-box binding protein associated factor 1 | Często (30–79%) | W 1 chorobie |
| TBX1T-box transcription factor 1 | Często (30–79%) | W 1 chorobie |
| TNNI2troponin I2, fast skeletal type | Często (30–79%) | W 1 chorobie |
| TNNT3troponin T3, fast skeletal type | Często (30–79%) | W 1 chorobie |
| TPM2tropomyosin 2 | Często (30–79%) | W 2 chorobach |
| TRAF7TNF receptor associated factor 7 | Często (30–79%) | W 1 chorobie |
| TRAPPC2trafficking protein particle complex subunit 2 | Często (30–79%) | W 2 chorobach |
| TRAPPC9trafficking protein particle complex subunit 9 | Często (30–79%) | W 1 chorobie |
| TRMT10AtRNA methyltransferase 10A | Często (30–79%) | W 2 chorobach |
| TUBBtubulin beta class I | Często (30–79%) | W 1 chorobie |
| UBE2Aubiquitin conjugating enzyme E2 A | Często (30–79%) | W 1 chorobie |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Często (30–79%) | W 1 chorobie |
| WNT7AWnt family member 7A | Często (30–79%) | W 2 chorobach |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Często (30–79%) | W 1 chorobie |
| ACTA1actin alpha 1, skeletal muscle | Czasami (5–29%) | W 1 chorobie |
| ADA2adenosine deaminase 2 | Czasami (5–29%) | W 1 chorobie |
| ADAT3adenosine deaminase tRNA specific 3 | Czasami (5–29%) | W 1 chorobie |
| AFF3ALF transcription elongation factor 3 | Czasami (5–29%) | W 1 chorobie |
| AHDC1AT-hook DNA binding motif containing 1 | Czasami (5–29%) | W 1 chorobie |
| APCAPC regulator of Wnt signaling pathway | Czasami (5–29%) | W 1 chorobie |
| ARL6ARF like GTPase 6 | Czasami (5–29%) | W 1 chorobie |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Czasami (5–29%) | W 1 chorobie |
| BAP1BRCA1 associated deubiquitinase 1 | Czasami (5–29%) | W 1 chorobie |
| BBIP1BBSome interacting protein 1 | Czasami (5–29%) | W 1 chorobie |
| BBS1Bardet-Biedl syndrome 1 | Czasami (5–29%) | W 1 chorobie |
| BBS10Bardet-Biedl syndrome 10 | Czasami (5–29%) | W 1 chorobie |
| BBS12Bardet-Biedl syndrome 12 | Czasami (5–29%) | W 1 chorobie |
| BBS4Bardet-Biedl syndrome 4 | Czasami (5–29%) | W 1 chorobie |
| BBS5Bardet-Biedl syndrome 5 | Czasami (5–29%) | W 1 chorobie |
| BBS7Bardet-Biedl syndrome 7 | Czasami (5–29%) | W 1 chorobie |
| BBS9Bardet-Biedl syndrome 9 | Czasami (5–29%) | W 1 chorobie |
| BRPF1bromodomain and PHD finger containing 1 | Czasami (5–29%) | W 1 chorobie |
| CACHD1cache domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| CCDC22CCC complex scaffolding subunit CCDC22 | Czasami (5–29%) | W 1 chorobie |
| CEP19centrosomal protein 19 | Czasami (5–29%) | W 1 chorobie |
| CEP290centrosomal protein 290 | Czasami (5–29%) | W 1 chorobie |
| CFAP418cilia and flagella associated protein 418 | Czasami (5–29%) | W 1 chorobie |
| CFL2cofilin 2 | Czasami (5–29%) | W 1 chorobie |
| CHN1chimerin 1 | Czasami (5–29%) | W 1 chorobie |
| COG5component of oligomeric golgi complex 5 | Czasami (5–29%) | W 1 chorobie |
| DHCR2424-dehydrocholesterol reductase | Czasami (5–29%) | W 1 chorobie |
| DPYDdihydropyrimidine dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| DPYSL5dihydropyrimidinase like 5 | Czasami (5–29%) | W 1 chorobie |
| DVL1dishevelled segment polarity protein 1 | Czasami (5–29%) | W 3 chorobach |
| DVL3dishevelled segment polarity protein 3 | Czasami (5–29%) | W 2 chorobach |
| ERMARDER membrane associated RNA degradation | Czasami (5–29%) | W 1 chorobie |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Czasami (5–29%) | W 2 chorobach |
| FANCLFA complementation group L | Czasami (5–29%) | W 1 chorobie |
| FILIP1filamin A interacting protein 1 | Czasami (5–29%) | W 1 chorobie |
| FLNBfilamin B | Czasami (5–29%) | W 4 chorobach |
| FREM2FRAS1 related extracellular matrix 2 | Czasami (5–29%) | W 1 chorobie |
| FZD2frizzled class receptor 2 | Czasami (5–29%) | W 1 chorobie |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Czasami (5–29%) | W 1 chorobie |
| GATA1GATA binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| GJA5gap junction protein alpha 5 | Czasami (5–29%) | W 1 chorobie |
| GJA8gap junction protein alpha 8 | Czasami (5–29%) | W 1 chorobie |
| GLI2GLI family zinc finger 2 | Czasami (5–29%) | W 1 chorobie |
| H4C5H4 clustered histone 5 | Czasami (5–29%) | W 1 chorobie |
| HDAC4histone deacetylase 4 | Czasami (5–29%) | W 1 chorobie |
| HEATR3HEAT repeat containing 3 | Czasami (5–29%) | W 1 chorobie |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Czasami (5–29%) | W 1 chorobie |
| HESX1HESX homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Czasami (5–29%) | W 1 chorobie |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Czasami (5–29%) | W 1 chorobie |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Czasami (5–29%) | W 1 chorobie |
| IFT172intraflagellar transport 172 | Czasami (5–29%) | W 1 chorobie |
| IFT27intraflagellar transport 27 | Czasami (5–29%) | W 1 chorobie |
| IFT74intraflagellar transport 74 | Czasami (5–29%) | W 1 chorobie |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Czasami (5–29%) | W 1 chorobie |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Czasami (5–29%) | W 1 chorobie |
| KIAA0586KIAA0586 | Czasami (5–29%) | W 1 chorobie |
| KIF26Akinesin family member 26A | Czasami (5–29%) | W 1 chorobie |
| KLHL41kelch like family member 41 | Czasami (5–29%) | W 1 chorobie |
| LHX4LIM homeobox 4 | Czasami (5–29%) | W 1 chorobie |
| LMOD3leiomodin 3 | Czasami (5–29%) | W 1 chorobie |
| LMX1BLIM homeobox transcription factor 1 beta | Czasami (5–29%) | W 1 chorobie |
| LZTFL1leucine zipper transcription factor like 1 | Czasami (5–29%) | W 1 chorobie |
| MAB21L1mab-21 like 1 | Czasami (5–29%) | W 1 chorobie |
| MADDMAP kinase activating death domain | Czasami (5–29%) | W 1 chorobie |
| MAFBMAF bZIP transcription factor B | Czasami (5–29%) | W 1 chorobie |
| MAN1B1mannosidase alpha class 1B member 1 | Czasami (5–29%) | W 2 chorobach |
| MAN2B1mannosidase alpha class 2B member 1 | Czasami (5–29%) | W 1 chorobie |
| MAPRE2microtubule associated protein RP/EB family member 2 | Czasami (5–29%) | W 1 chorobie |
| MED13Lmediator complex subunit 13L | Czasami (5–29%) | W 2 chorobach |
| MEGF8multiple EGF like domains 8 | Czasami (5–29%) | W 1 chorobie |
| MICU1mitochondrial calcium uptake 1 | Czasami (5–29%) | W 1 chorobie |
| MKKSMKKS centrosomal shuttling protein | Czasami (5–29%) | W 1 chorobie |
| MKS1MKS transition zone complex subunit 1 | Czasami (5–29%) | W 2 chorobach |
| MSL3MSL complex subunit 3 | Czasami (5–29%) | W 1 chorobie |
| MYL11myosin light chain 11 | Czasami (5–29%) | W 1 chorobie |
| NEBnebulin | Czasami (5–29%) | W 1 chorobie |
| NPHP1nephrocystin 1 | Czasami (5–29%) | W 1 chorobie |
| NXNnucleoredoxin | Czasami (5–29%) | W 1 chorobie |
| PGAP2post-GPI attachment to proteins 2 | Czasami (5–29%) | W 1 chorobie |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Czasami (5–29%) | W 1 chorobie |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Czasami (5–29%) | W 1 chorobie |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Czasami (5–29%) | W 1 chorobie |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Czasami (5–29%) | W 1 chorobie |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Czasami (5–29%) | W 1 chorobie |
| PLAAT3phospholipase A and acyltransferase 3 | Czasami (5–29%) | W 1 chorobie |
| PLXNA1plexin A1 | Czasami (5–29%) | W 1 chorobie |
| POP1POP1 ribonuclease P/MRP subunit | Czasami (5–29%) | W 1 chorobie |
| POU1F1POU class 1 homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Czasami (5–29%) | W 1 chorobie |
| PROP1PROP paired-like homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| RFX7regulatory factor X7 | Czasami (5–29%) | W 1 chorobie |
| RPL11ribosomal protein L11 | Czasami (5–29%) | W 1 chorobie |
| RPL15ribosomal protein L15 | Czasami (5–29%) | W 1 chorobie |
| RPL18ribosomal protein L18 | Czasami (5–29%) | W 1 chorobie |
| RPL26ribosomal protein L26 | Czasami (5–29%) | W 1 chorobie |
| RPL27ribosomal protein L27 | Czasami (5–29%) | W 1 chorobie |
| RPL31ribosomal protein L31 | Czasami (5–29%) | W 1 chorobie |
| RPL35ribosomal protein L35 | Czasami (5–29%) | W 1 chorobie |
| RPL35Aribosomal protein L35a | Czasami (5–29%) | W 1 chorobie |
| RPL5ribosomal protein L5 | Czasami (5–29%) | W 1 chorobie |
| RPL8ribosomal protein L8 | Czasami (5–29%) | W 1 chorobie |
| RPL9ribosomal protein L9 | Czasami (5–29%) | W 1 chorobie |
| RPS10ribosomal protein S10 | Czasami (5–29%) | W 1 chorobie |
| RPS15Aribosomal protein S15a | Czasami (5–29%) | W 1 chorobie |
| RPS17ribosomal protein S17 | Czasami (5–29%) | W 1 chorobie |
| RPS19ribosomal protein S19 | Czasami (5–29%) | W 2 chorobach |
| RPS20ribosomal protein S20 | Czasami (5–29%) | W 1 chorobie |
| RPS24ribosomal protein S24 | Czasami (5–29%) | W 1 chorobie |
| RPS26ribosomal protein S26 | Czasami (5–29%) | W 1 chorobie |
| RPS27ribosomal protein S27 | Czasami (5–29%) | W 1 chorobie |
| RPS28ribosomal protein S28 | Czasami (5–29%) | W 1 chorobie |
| RPS29ribosomal protein S29 | Czasami (5–29%) | W 1 chorobie |
| RPS7ribosomal protein S7 | Czasami (5–29%) | W 1 chorobie |
| SALL4spalt like transcription factor 4 | Czasami (5–29%) | W 1 chorobie |
| SATB2SATB homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| SCAPERS-phase cyclin A associated protein in the ER | Czasami (5–29%) | W 1 chorobie |
| SCLT1sodium channel and clathrin linker 1 | Czasami (5–29%) | W 1 chorobie |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Czasami (5–29%) | W 1 chorobie |
| SETD5SET domain containing 5 | Czasami (5–29%) | W 1 chorobie |
| SLC2A1solute carrier family 2 member 1 | Czasami (5–29%) | W 1 chorobie |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Czasami (5–29%) | W 1 chorobie |
| SRRM2serine/arginine repetitive matrix 2 | Czasami (5–29%) | W 1 chorobie |
| STXBP1syntaxin binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| TBCKTBC1 domain containing kinase | Czasami (5–29%) | W 2 chorobach |
| TBX2T-box transcription factor 2 | Czasami (5–29%) | W 1 chorobie |
| TCTN2tectonic family member 2 | Czasami (5–29%) | W 1 chorobie |
| TGDSTDP-glucose 4,6-dehydratase | Czasami (5–29%) | W 1 chorobie |
| TRIM32tripartite motif containing 32 | Czasami (5–29%) | W 1 chorobie |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Czasami (5–29%) | W 1 chorobie |
| TSR2TSR2 ribosome maturation factor | Czasami (5–29%) | W 1 chorobie |
| TTC8tetratricopeptide repeat domain 8 | Czasami (5–29%) | W 1 chorobie |
| VPS35LVPS35 endosomal protein sorting factor like | Czasami (5–29%) | W 1 chorobie |
| WASHC5WASH complex subunit 5 | Czasami (5–29%) | W 1 chorobie |
| WDPCPWD repeat containing planar cell polarity effector | Czasami (5–29%) | W 1 chorobie |
| WNT5AWnt family member 5A | Czasami (5–29%) | W 2 chorobach |
| WWOXWW domain containing oxidoreductase | Czasami (5–29%) | W 1 chorobie |
| FN1fibronectin 1 | Rzadko (1–4%) | W 1 chorobie |
| PTBP1polypyrimidine tract binding protein 1 | Rzadko (1–4%) | W 1 chorobie |
| RNU4-2RNA, U4 small nuclear 2 | Rzadko (1–4%) | W 1 chorobie |
| SMPD4sphingomyelin phosphodiesterase 4 | Rzadko (1–4%) | W 1 chorobie |
| AEBP1AE binding protein 1 | Nie odnotowano | W 1 chorobie |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Nie odnotowano | W 1 chorobie |
| ALDOAaldolase, fructose-bisphosphate A | Nie odnotowano | W 1 chorobie |
| ATRXATRX chromatin remodeler | Nie odnotowano | W 1 chorobie |
| B3GALT6beta-1,3-galactosyltransferase 6 | Nie odnotowano | W 1 chorobie |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Nie odnotowano | W 1 chorobie |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Nie odnotowano | W 1 chorobie |
| CDK5cyclin dependent kinase 5 | Nie odnotowano | W 1 chorobie |
| CEP55centrosomal protein 55 | Nie odnotowano | W 1 chorobie |
| CHST3carbohydrate sulfotransferase 3 | Nie odnotowano | W 2 chorobach |
| CRLF1cytokine receptor like factor 1 | Nie odnotowano | W 1 chorobie |
| DOK7docking protein 7 | Nie odnotowano | W 1 chorobie |
| EBPEBP cholestenol delta-isomerase | Nie odnotowano | W 1 chorobie |
| EFNB1ephrin B1 | Nie odnotowano | W 1 chorobie |
| EXOC6Bexocyst complex component 6B | Nie odnotowano | W 1 chorobie |
| EXOSC9exosome component 9 | Nie odnotowano | W 1 chorobie |
| FBN2fibrillin 2 | Nie odnotowano | W 1 chorobie |
| GLB1galactosidase beta 1 | Nie odnotowano | W 1 chorobie |
| GPC6glypican 6 | Nie odnotowano | W 1 chorobie |
| GPX4glutathione peroxidase 4 | Nie odnotowano | W 1 chorobie |
| HSPA9heat shock protein family A (Hsp70) member 9 | Nie odnotowano | W 1 chorobie |
| IDSiduronate 2-sulfatase | Nie odnotowano | W 1 chorobie |
| KIFBPkinesin family binding protein | Nie odnotowano | W 1 chorobie |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Nie odnotowano | W 1 chorobie |
| LIFRLIF receptor subunit alpha | Nie odnotowano | W 1 chorobie |
| MECP2methyl-CpG binding protein 2 | Nie odnotowano | W 1 chorobie |
| MED12mediator complex subunit 12 | Nie odnotowano | W 1 chorobie |
| MUSKmuscle associated receptor tyrosine kinase | Nie odnotowano | W 1 chorobie |
| MYO18Bmyosin XVIIIB | Nie odnotowano | W 1 chorobie |
| NANSN-acetylneuraminate synthase | Nie odnotowano | W 1 chorobie |
| NF1neurofibromin 1 | Nie odnotowano | W 1 chorobie |
| PAM16presequence translocase associated motor 16 | Nie odnotowano | W 1 chorobie |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Nie odnotowano | W 2 chorobach |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Nie odnotowano | W 1 chorobie |
| POLEDNA polymerase epsilon, catalytic subunit | Nie odnotowano | W 1 chorobie |
| RAB23RAB23, member RAS oncogene family | Nie odnotowano | W 1 chorobie |
| SMAD4SMAD family member 4 | Nie odnotowano | W 1 chorobie |
| SPRED1sprouty related EVH1 domain containing 1 | Nie odnotowano | W 1 chorobie |
| TALDO1transaldolase 1 | Nie odnotowano | W 1 chorobie |
| TAPT1transmembrane anterior posterior transformation 1 | Nie odnotowano | W 1 chorobie |
| TFAP2Atranscription factor AP-2 alpha | Nie odnotowano | W 1 chorobie |
| UNC80unc-80 subunit of NALCN channel complex | Nie odnotowano | W 1 chorobie |
| WACWW domain containing adaptor with coiled-coil | Nie odnotowano | W 1 chorobie |
| ZC4H2zinc finger C4H2-type containing | Nie odnotowano | W 2 chorobach |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.18-e609d43e.
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