Požymis

EMG abnormality

Abnormal results of investigations using electromyography (EMG).

Taip pat vadinama: Abnormal electromyography finding, Abnormal EMG, Electromyogram abnormal, EMG abnormalities
Kūno sistema: Abnormality of the musculoskeletal system

Ši puslapis kaip duomenys

Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.

library(jsonlite)

url <- "https://dantelabs.com/traits/emg-abnormality.json"
page <- fromJSON(url)
page$trait$name

Atidaryti JSON

Vienu tyrimu sužinokite genus, susijusius su EMG abnormality, ir kitą jūsų genomo dalį.

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Įsigyti savo Genome Test

119 genų susiję su EMG abnormality

Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia EMG abnormality. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.

Genas	Kaip dažnai pasireiškia	Ligos
ADCY6adenylate cyclase 6	Labai dažnai (80–99%)	1 ligoje
B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2	Labai dažnai (80–99%)	1 ligoje
CACNA1Scalcium voltage-gated channel subunit alpha1 S	Labai dažnai (80–99%)	2 ligose
CASRcalcium sensing receptor	Labai dažnai (80–99%)	1 ligoje
CEP126centrosomal protein 126	Labai dažnai (80–99%)	1 ligoje
CLCN1chloride voltage-gated channel 1	Labai dažnai (80–99%)	1 ligoje
CNTNAP1contactin associated protein 1	Labai dažnai (80–99%)	1 ligoje
CPLANE1ciliogenesis and planar polarity effector complex subunit 1	Labai dažnai (80–99%)	1 ligoje
CRPPACDP-L-ribitol pyrophosphorylase A	Labai dažnai (80–99%)	1 ligoje
ELP1elongator acetyltransferase complex subunit 1	Labai dažnai (80–99%)	1 ligoje
FKRPfukutin related protein	Labai dažnai (80–99%)	1 ligoje
FKTNfukutin	Labai dažnai (80–99%)	3 ligose
GABRA3gamma-aminobutyric acid type A receptor subunit alpha3	Labai dažnai (80–99%)	1 ligoje
GDAP1ganglioside induced differentiation associated protein 1	Labai dažnai (80–99%)	1 ligoje
GMPPBGDP-mannose pyrophosphorylase B	Labai dažnai (80–99%)	1 ligoje
GNA11G protein subunit alpha 11	Labai dažnai (80–99%)	1 ligoje
HSPG2heparan sulfate proteoglycan 2	Labai dažnai (80–99%)	1 ligoje
KCNA1potassium voltage-gated channel subfamily A member 1	Labai dažnai (80–99%)	1 ligoje
KCNE3potassium voltage-gated channel subfamily E regulatory subunit 3	Labai dažnai (80–99%)	1 ligoje
KCNJ18potassium inwardly rectifying channel subfamily J member 18	Labai dažnai (80–99%)	1 ligoje
LARGE1LARGE xylosyl- and glucuronyltransferase 1	Labai dažnai (80–99%)	1 ligoje
LGI4leucine rich repeat LGI family member 4	Labai dažnai (80–99%)	1 ligoje
MAFBMAF bZIP transcription factor B	Labai dažnai (80–99%)	1 ligoje
MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	Labai dažnai (80–99%)	1 ligoje
MT-RNR1mitochondrially encoded 12S rRNA	Labai dažnai (80–99%)	1 ligoje
MT-TFmitochondrially encoded tRNA-Phe (UUU/C)	Labai dažnai (80–99%)	1 ligoje
MT-THmitochondrially encoded tRNA-His (CAU/C)	Labai dažnai (80–99%)	1 ligoje
MT-TKmitochondrially encoded tRNA-Lys (AAA/G)	Labai dažnai (80–99%)	2 ligose
MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1	Labai dažnai (80–99%)	3 ligose
MT-TPmitochondrially encoded tRNA-Pro (CCN)	Labai dažnai (80–99%)	1 ligoje
MT-TQmitochondrially encoded tRNA-Gln (CAA/G)	Labai dažnai (80–99%)	1 ligoje
MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1	Labai dažnai (80–99%)	2 ligose
MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2	Labai dažnai (80–99%)	1 ligoje
NOTCH2NLCnotch 2 N-terminal like C	Labai dažnai (80–99%)	1 ligoje
POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	Labai dažnai (80–99%)	1 ligoje
POMT1protein O-mannosyltransferase 1	Labai dažnai (80–99%)	1 ligoje
POMT2protein O-mannosyltransferase 2	Labai dažnai (80–99%)	1 ligoje
PUS1pseudouridine synthase 1	Labai dažnai (80–99%)	1 ligoje
SCN4Asodium voltage-gated channel alpha subunit 4	Labai dažnai (80–99%)	4 ligose
SEPTIN9septin 9	Labai dažnai (80–99%)	1 ligoje

Rodyti dar 79 genų

Genas	Kaip dažnai pasireiškia	Ligos
TRIM32tripartite motif containing 32	Labai dažnai (80–99%)	1 ligoje
YARS2tyrosyl-tRNA synthetase 2	Labai dažnai (80–99%)	1 ligoje
ANO10anoctamin 10	Dažnai (30–79%)	1 ligoje
ATXN3ataxin 3	Dažnai (30–79%)	1 ligoje
CPT1Ccarnitine palmitoyltransferase 1C	Dažnai (30–79%)	1 ligoje
LAMA2laminin subunit alpha 2	Dažnai (30–79%)	1 ligoje
LMNAlamin A/C	Dažnai (30–79%)	2 ligose
MATR3matrin 3	Dažnai (30–79%)	1 ligoje
MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8	Dažnai (30–79%)	1 ligoje
MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2	Dažnai (30–79%)	1 ligoje
MT-TNmitochondrially encoded tRNA-Asn (AAU/C)	Dažnai (30–79%)	1 ligoje
RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B	Dažnai (30–79%)	1 ligoje
SMAD4SMAD family member 4	Dažnai (30–79%)	1 ligoje
ABCC9ATP binding cassette subfamily C member 9	Kartais (5–29%)	1 ligoje
ACTC1actin alpha cardiac muscle 1	Kartais (5–29%)	1 ligoje
ACTN2actinin alpha 2	Kartais (5–29%)	1 ligoje
ANKRD1ankyrin repeat domain 1	Kartais (5–29%)	1 ligoje
BAG3BAG cochaperone 3	Kartais (5–29%)	1 ligoje
BAG5BAG cochaperone 5	Kartais (5–29%)	1 ligoje
CAP2cyclase associated actin cytoskeleton regulatory protein 2	Kartais (5–29%)	1 ligoje
COQ8Acoenzyme Q8A	Kartais (5–29%)	1 ligoje
CRYABcrystallin alpha B	Kartais (5–29%)	1 ligoje
CSRP3cysteine and glycine rich protein 3	Kartais (5–29%)	1 ligoje
DESdesmin	Kartais (5–29%)	1 ligoje
DMDdystrophin	Kartais (5–29%)	1 ligoje
DOLKdolichol kinase	Kartais (5–29%)	1 ligoje
DSG2desmoglein 2	Kartais (5–29%)	1 ligoje
DSPdesmoplakin	Kartais (5–29%)	1 ligoje
FHL2four and a half LIM domains 2	Kartais (5–29%)	1 ligoje
FLNCfilamin C	Kartais (5–29%)	1 ligoje
GATAD1GATA zinc finger domain containing 1	Kartais (5–29%)	1 ligoje
GBE11,4-alpha-glucan branching enzyme 1	Kartais (5–29%)	1 ligoje
GET3guided entry of tail-anchored proteins factor 3, ATPase	Kartais (5–29%)	1 ligoje
HAND2heart and neural crest derivatives expressed 2	Kartais (5–29%)	1 ligoje
JPH2junctophilin 2	Kartais (5–29%)	1 ligoje
LAMA4laminin subunit alpha 4	Kartais (5–29%)	1 ligoje
LDB3LIM domain binding 3	Kartais (5–29%)	1 ligoje
LMOD2leiomodin 2	Kartais (5–29%)	1 ligoje
MYBPC3myosin binding protein C3	Kartais (5–29%)	1 ligoje
MYH6myosin heavy chain 6	Kartais (5–29%)	1 ligoje
MYH7myosin heavy chain 7	Kartais (5–29%)	1 ligoje
MYPNmyopalladin	Kartais (5–29%)	1 ligoje
NEXNnexilin F-actin binding protein	Kartais (5–29%)	1 ligoje
NRAPnebulin related anchoring protein	Kartais (5–29%)	1 ligoje
PLNphospholamban	Kartais (5–29%)	1 ligoje
PPCSphosphopantothenoylcysteine synthetase	Kartais (5–29%)	1 ligoje
PRDM16PR/SET domain 16	Kartais (5–29%)	1 ligoje
PSEN1presenilin 1	Kartais (5–29%)	1 ligoje
PSEN2presenilin 2	Kartais (5–29%)	1 ligoje
RAF1Raf-1 proto-oncogene, serine/threonine kinase	Kartais (5–29%)	1 ligoje
RBM20RNA binding motif protein 20	Kartais (5–29%)	1 ligoje
RPL3Lribosomal protein L3 like	Kartais (5–29%)	1 ligoje
SCN5Asodium voltage-gated channel alpha subunit 5	Kartais (5–29%)	1 ligoje
SDHAsuccinate dehydrogenase complex flavoprotein subunit A	Kartais (5–29%)	1 ligoje
SGCDsarcoglycan delta	Kartais (5–29%)	1 ligoje
TAF1ATATA-box binding protein associated factor, RNA polymerase I subunit A	Kartais (5–29%)	1 ligoje
TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase	Kartais (5–29%)	1 ligoje
TCAPtitin-cap	Kartais (5–29%)	1 ligoje
TMPOthymopoietin	Kartais (5–29%)	1 ligoje
TNNC1troponin C1, slow skeletal and cardiac type	Kartais (5–29%)	1 ligoje
TNNI3troponin I3, cardiac type	Kartais (5–29%)	1 ligoje
TNNT2troponin T2, cardiac type	Kartais (5–29%)	1 ligoje
TPM1tropomyosin 1	Kartais (5–29%)	1 ligoje
TTNtitin	Kartais (5–29%)	1 ligoje
TXNRD2thioredoxin reductase 2	Kartais (5–29%)	1 ligoje
VCLvinculin	Kartais (5–29%)	1 ligoje
VEZF1vascular endothelial zinc finger 1	Kartais (5–29%)	1 ligoje
CAV3caveolin 3	Neužfiksuota	1 ligoje
KPNA3karyopherin subunit alpha 3	Neužfiksuota	1 ligoje
LAMB1laminin subunit beta 1	Neužfiksuota	1 ligoje
OATornithine aminotransferase	Neužfiksuota	1 ligoje
PGAM2phosphoglycerate mutase 2	Neužfiksuota	1 ligoje
RTN2reticulon 2	Neužfiksuota	1 ligoje
SLC33A1solute carrier family 33 member 1	Neužfiksuota	1 ligoje
SMN1survival of motor neuron 1, telomeric	Neužfiksuota	1 ligoje
TMTC3transmembrane O-mannosyltransferase targeting cadherins 3	Neužfiksuota	1 ligoje
UBAP1ubiquitin associated protein 1	Neužfiksuota	1 ligoje
WASHC5WASH complex subunit 5	Neužfiksuota	1 ligoje
ZFRzinc finger RNA binding protein	Neužfiksuota	1 ligoje

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Siauresni požymiai

Platesni požymiai

Issue with muscle function

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
Duomenų leidimas 2026.10.17-8666dff2.

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