Trait

Respiratory function loss

Clinical name: Respiratory insufficiency

HPO HP:0002093

Also called: Respiratory impairment
Body system: Abnormality of the respiratory system

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170 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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345 genes linked to Respiratory function loss

Changes in these genes cause rare conditions in which Respiratory function loss is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

Gene	How often it is seen	Conditions
ACTA1actin alpha 1, skeletal muscle	Always	In 4 conditions
BAG3BAG cochaperone 3	Always	In 1 condition
CHRNB1cholinergic receptor nicotinic beta 1 subunit	Always	In 1 condition
CHRNDcholinergic receptor nicotinic delta subunit	Always	In 3 conditions
CLCN6Cl-/H+ antiporter 6	Always	In 1 condition
COQ4coenzyme Q4	Always	In 1 condition
CRYABcrystallin alpha B	Always	In 1 condition
DNM2dynamin 2	Always	In 1 condition
EPG5ectopic P-granules 5 autophagy tethering factor	Always	In 1 condition
ESAMendothelial cell adhesion molecule	Always	In 1 condition
EXOSC8exosome component 8	Always	In 1 condition
FARSBphenylalanyl-tRNA synthetase subunit beta	Always	In 1 condition
FDXRferredoxin reductase	Always	In 1 condition
FGF4fibroblast growth factor 4	Always	In 1 condition
FLAD1flavin adenine dinucleotide synthetase 1	Always	In 1 condition
GARS1glycyl-tRNA synthetase 1	Always	In 1 condition
GLSglutaminase	Always	In 1 condition
HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1	Always	In 1 condition
INPPL1inositol polyphosphate phosphatase like 1	Always	In 2 conditions
JKAMPJNK1/MAPK8 associated membrane protein	Always	In 1 condition
JPH1junctophilin 1	Always	In 1 condition
LIASlipoic acid synthetase	Always	In 1 condition
LIFRLIF receptor subunit alpha	Always	In 1 condition
MICOS13mitochondrial contact site and cristae organizing system subunit 13	Always	In 1 condition
MOCS3molybdenum cofactor synthesis 3	Always	In 1 condition
MRPS14mitochondrial ribosomal protein S14	Always	In 1 condition
MYOD1myogenic differentiation 1	Always	In 2 conditions
NDUFA10NADH:ubiquinone oxidoreductase subunit A10	Always	In 1 condition
NDUFA9NADH:ubiquinone oxidoreductase subunit A9	Always	In 2 conditions
NFU1NFU1 iron-sulfur cluster scaffold	Always	In 1 condition
OAS12'-5'-oligoadenylate synthetase 1	Always	In 1 condition
PIEZO2piezo type mechanosensitive ion channel component 2	Always	In 1 condition
PSAPprosaposin	Always	In 2 conditions
PURApurine rich element binding protein A	Always	In 1 condition
RAPSNreceptor associated protein of the synapse	Always	In 3 conditions
RYR1ryanodine receptor 1	Always	In 2 conditions
SCN4Asodium voltage-gated channel alpha subunit 4	Always	In 2 conditions
SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase	Always	In 1 condition
SFTPCsurfactant protein C	Always	In 1 condition
STAT2signal transducer and activator of transcription 2	Always	In 1 condition

Show 305 more genes

Gene	How often it is seen	Conditions
SYNE2spectrin repeat containing nuclear envelope protein 2	Always	In 1 condition
TMEM231transmembrane protein 231	Always	In 1 condition
USP18ubiquitin specific peptidase 18	Always	In 1 condition
VARS2valyl-tRNA synthetase 2, mitochondrial	Always	In 1 condition
BDNFbrain derived neurotrophic factor	Very often (80–99%)	In 1 condition
CLCF1cardiotrophin like cytokine factor 1	Very often (80–99%)	In 1 condition
CPS1carbamoyl-phosphate synthase 1	Very often (80–99%)	In 1 condition
CRLF1cytokine receptor like factor 1	Very often (80–99%)	In 1 condition
DLL3delta like canonical Notch ligand 3	Very often (80–99%)	In 1 condition
DMDdystrophin	Very often (80–99%)	In 1 condition
DOK7docking protein 7	Very often (80–99%)	In 1 condition
DYNC2H1dynein cytoplasmic 2 heavy chain 1	Very often (80–99%)	In 2 conditions
DYNC2I1dynein 2 intermediate chain 1	Very often (80–99%)	In 2 conditions
DYNC2I2dynein 2 intermediate chain 2	Very often (80–99%)	In 3 conditions
EDN3endothelin 3	Very often (80–99%)	In 1 condition
FGFR1fibroblast growth factor receptor 1	Very often (80–99%)	In 1 condition
FGFR3fibroblast growth factor receptor 3	Very often (80–99%)	In 4 conditions
FOXRED1FAD dependent oxidoreductase domain containing 1	Very often (80–99%)	In 2 conditions
GDNFglial cell derived neurotrophic factor	Very often (80–99%)	In 1 condition
GGPS1geranylgeranyl diphosphate synthase 1	Very often (80–99%)	In 1 condition
GLDNgliomedin	Very often (80–99%)	In 1 condition
HES7hes family bHLH transcription factor 7	Very often (80–99%)	In 1 condition
IFT80intraflagellar transport 80	Very often (80–99%)	In 2 conditions
KIF21Akinesin family member 21A	Very often (80–99%)	In 1 condition
LBX1ladybird homeobox 1	Very often (80–99%)	In 1 condition
LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	Very often (80–99%)	In 1 condition
LTBP4latent transforming growth factor beta binding protein 4	Very often (80–99%)	In 1 condition
MAGEL2MAGE family member L2	Very often (80–99%)	In 1 condition
MECP2methyl-CpG binding protein 2	Very often (80–99%)	In 2 conditions
MESP2mesoderm posterior bHLH transcription factor 2	Very often (80–99%)	In 1 condition
MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1	Very often (80–99%)	In 1 condition
MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2	Very often (80–99%)	In 1 condition
MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3	Very often (80–99%)	In 1 condition
MUSKmuscle associated receptor tyrosine kinase	Very often (80–99%)	In 2 conditions
MYH7myosin heavy chain 7	Very often (80–99%)	In 2 conditions
MYO1Hmyosin IH	Very often (80–99%)	In 1 condition
NDUFA1NADH:ubiquinone oxidoreductase subunit A1	Very often (80–99%)	In 1 condition
NDUFA11NADH:ubiquinone oxidoreductase subunit A11	Very often (80–99%)	In 1 condition
NDUFA6NADH:ubiquinone oxidoreductase subunit A6	Very often (80–99%)	In 2 conditions
NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1	Very often (80–99%)	In 1 condition
NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2	Very often (80–99%)	In 1 condition
NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3	Very often (80–99%)	In 1 condition
NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4	Very often (80–99%)	In 1 condition
NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5	Very often (80–99%)	In 1 condition
NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8	Very often (80–99%)	In 1 condition
NDUFB10NADH:ubiquinone oxidoreductase subunit B10	Very often (80–99%)	In 1 condition
NDUFB11NADH:ubiquinone oxidoreductase subunit B11	Very often (80–99%)	In 1 condition
NDUFB3NADH:ubiquinone oxidoreductase subunit B3	Very often (80–99%)	In 1 condition
NDUFB9NADH:ubiquinone oxidoreductase subunit B9	Very often (80–99%)	In 1 condition
NDUFS1NADH:ubiquinone oxidoreductase core subunit S1	Very often (80–99%)	In 2 conditions
NDUFS2NADH:ubiquinone oxidoreductase core subunit S2	Very often (80–99%)	In 2 conditions
NDUFS3NADH:ubiquinone oxidoreductase core subunit S3	Very often (80–99%)	In 2 conditions
NDUFS4NADH:ubiquinone oxidoreductase subunit S4	Very often (80–99%)	In 2 conditions
NDUFS6NADH:ubiquinone oxidoreductase subunit S6	Very often (80–99%)	In 1 condition
NDUFS7NADH:ubiquinone oxidoreductase core subunit S7	Very often (80–99%)	In 2 conditions
NDUFS8NADH:ubiquinone oxidoreductase core subunit S8	Very often (80–99%)	In 2 conditions
NDUFV1NADH:ubiquinone oxidoreductase core subunit V1	Very often (80–99%)	In 1 condition
NDUFV2NADH:ubiquinone oxidoreductase core subunit V2	Very often (80–99%)	In 1 condition
NPC2NPC intracellular cholesterol transporter 2	Very often (80–99%)	In 1 condition
NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial	Very often (80–99%)	In 1 condition
NUP88nucleoporin 88	Very often (80–99%)	In 1 condition
ODAD3outer dynein arm docking complex subunit 3	Very often (80–99%)	In 1 condition
PEX1peroxisomal biogenesis factor 1	Very often (80–99%)	In 1 condition
PEX10peroxisomal biogenesis factor 10	Very often (80–99%)	In 1 condition
PEX11Bperoxisomal biogenesis factor 11 beta	Very often (80–99%)	In 1 condition
PEX12peroxisomal biogenesis factor 12	Very often (80–99%)	In 1 condition
PEX13peroxisomal biogenesis factor 13	Very often (80–99%)	In 1 condition
PEX14peroxisomal biogenesis factor 14	Very often (80–99%)	In 1 condition
PEX16peroxisomal biogenesis factor 16	Very often (80–99%)	In 1 condition
PEX19peroxisomal biogenesis factor 19	Very often (80–99%)	In 1 condition
PEX2peroxisomal biogenesis factor 2	Very often (80–99%)	In 1 condition
PEX26peroxisomal biogenesis factor 26	Very often (80–99%)	In 1 condition
PEX3peroxisomal biogenesis factor 3	Very often (80–99%)	In 1 condition
PEX5peroxisomal biogenesis factor 5	Very often (80–99%)	In 1 condition
PEX6peroxisomal biogenesis factor 6	Very often (80–99%)	In 1 condition
PHOX2Bpaired like homeobox 2B	Very often (80–99%)	In 1 condition
RIPPLY2ripply transcriptional repressor 2	Very often (80–99%)	In 1 condition
RMRPRNA component of mitochondrial RNA processing endoribonuclease	Very often (80–99%)	In 1 condition
SELENONselenoprotein N	Very often (80–99%)	In 1 condition
SLC18A3solute carrier family 18 member A3	Very often (80–99%)	In 2 conditions
SLC25A20solute carrier family 25 member 20	Very often (80–99%)	In 1 condition
SOX9SRY-box transcription factor 9	Very often (80–99%)	In 1 condition
TBX6T-box transcription factor 6	Very often (80–99%)	In 1 condition
TIMMDC1translocase of inner mitochondrial membrane domain containing 1	Very often (80–99%)	In 1 condition
TMEM126Btransmembrane protein 126B	Very often (80–99%)	In 1 condition
TUBA1Atubulin alpha 1a	Very often (80–99%)	In 1 condition
WDR35WD repeat domain 35	Very often (80–99%)	In 1 condition
ACOX1acyl-CoA oxidase 1	Often (30–79%)	In 1 condition
ACVR1activin A receptor type 1	Often (30–79%)	In 2 conditions
ADPRSADP-ribosylserine hydrolase	Often (30–79%)	In 1 condition
AGKacylglycerol kinase	Often (30–79%)	In 1 condition
AIFM1apoptosis inducing factor mitochondria associated 1	Often (30–79%)	In 1 condition
BIN1bridging integrator 1	Often (30–79%)	In 1 condition
CAPNS1calpain small subunit 1	Often (30–79%)	In 1 condition
CEP120centrosomal protein 120	Often (30–79%)	In 2 conditions
CFL2cofilin 2	Often (30–79%)	In 1 condition
CLXNcalaxin	Often (30–79%)	In 1 condition
COL11A1collagen type XI alpha 1 chain	Often (30–79%)	In 1 condition
COL11A2collagen type XI alpha 2 chain	Often (30–79%)	In 1 condition
COL13A1collagen type XIII alpha 1 chain	Often (30–79%)	In 2 conditions
COLQcollagen like tail subunit of asymmetric acetylcholinesterase	Often (30–79%)	In 2 conditions
CTLA4cytotoxic T-lymphocyte associated protein 4	Often (30–79%)	In 1 condition
DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1	Often (30–79%)	In 1 condition
EFEMP2EGF-like fibulin extracellular matrix protein 2	Often (30–79%)	In 1 condition
FBLN5fibulin 5	Often (30–79%)	In 1 condition
FCSKfucose kinase	Often (30–79%)	In 1 condition
FKBP10FKBP prolyl isomerase 10	Often (30–79%)	In 1 condition
FLNBfilamin B	Often (30–79%)	In 2 conditions
FLNCfilamin C	Often (30–79%)	In 2 conditions
GAAalpha glucosidase	Often (30–79%)	In 2 conditions
GMPPBGDP-mannose pyrophosphorylase B	Often (30–79%)	In 3 conditions
GPX4glutathione peroxidase 4	Often (30–79%)	In 1 condition
HLA-DPA1major histocompatibility complex, class II, DP alpha 1	Often (30–79%)	In 1 condition
HLA-DPB1major histocompatibility complex, class II, DP beta 1	Often (30–79%)	In 2 conditions
HMGCR3-hydroxy-3-methylglutaryl-CoA reductase	Often (30–79%)	In 1 condition
HSPB8heat shock protein family B (small) member 8	Often (30–79%)	In 1 condition
HSPG2heparan sulfate proteoglycan 2	Often (30–79%)	In 3 conditions
IFT140intraflagellar transport 140	Often (30–79%)	In 1 condition
IFT172intraflagellar transport 172	Often (30–79%)	In 1 condition
JAK2Janus kinase 2	Often (30–79%)	In 1 condition
KCNJ6potassium inwardly rectifying channel subfamily J member 6	Often (30–79%)	In 2 conditions
KIAA0753KIAA0753	Often (30–79%)	In 1 condition
KLHL41kelch like family member 41	Often (30–79%)	In 2 conditions
LAMB2laminin subunit beta 2	Often (30–79%)	In 1 condition
LIPT2lipoyl(octanoyl) transferase 2	Often (30–79%)	In 1 condition
LMNAlamin A/C	Often (30–79%)	In 1 condition
LMOD3leiomodin 3	Often (30–79%)	In 1 condition
LTBP1latent transforming growth factor beta binding protein 1	Often (30–79%)	In 1 condition
MAMLD1mastermind like domain containing 1	Often (30–79%)	In 1 condition
MGME1mitochondrial genome maintenance exonuclease 1	Often (30–79%)	In 1 condition
MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1	Often (30–79%)	In 1 condition
MTM1myotubularin 1	Often (30–79%)	In 1 condition
MYD88MYD88 innate immune signal transduction adaptor	Often (30–79%)	In 1 condition
NALCNsodium leak channel, non-selective	Often (30–79%)	In 2 conditions
NEBnebulin	Often (30–79%)	In 1 condition
NEK1NIMA related kinase 1	Often (30–79%)	In 1 condition
PLAAphospholipase A2 activating protein	Often (30–79%)	In 2 conditions
PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2	Often (30–79%)	In 1 condition
PLPBPpyridoxal phosphate binding protein	Often (30–79%)	In 1 condition
PRDM13PR/SET domain 13	Often (30–79%)	In 1 condition
PRTN3proteinase 3	Often (30–79%)	In 1 condition
PRUNE1prune exopolyphosphatase 1	Often (30–79%)	In 1 condition
PTPN22protein tyrosine phosphatase non-receptor type 22	Often (30–79%)	In 1 condition
RFT1RFT1 glycolipid translocator homolog	Often (30–79%)	In 1 condition
RNH1ribonuclease/angiogenin inhibitor 1	Often (30–79%)	In 1 condition
SARS2seryl-tRNA synthetase 2, mitochondrial	Often (30–79%)	In 1 condition
SF3B4splicing factor 3b subunit 4	Often (30–79%)	In 1 condition
SLC7A7solute carrier family 7 member 7	Often (30–79%)	In 2 conditions
SNUPNsnurportin 1	Often (30–79%)	In 1 condition
SPEGstriated muscle enriched protein kinase	Often (30–79%)	In 2 conditions
SPTLC1serine palmitoyltransferase long chain base subunit 1	Often (30–79%)	In 1 condition
STAC3SH3 and cysteine rich domain 3	Often (30–79%)	In 1 condition
STRA6signaling receptor and transporter of retinol STRA6	Often (30–79%)	In 1 condition
TBCDtubulin folding cofactor D	Often (30–79%)	In 1 condition
TBCKTBC1 domain containing kinase	Often (30–79%)	In 2 conditions
TNNT1troponin T1, slow skeletal type	Often (30–79%)	In 2 conditions
TPI1triosephosphate isomerase 1	Often (30–79%)	In 1 condition
TPM2tropomyosin 2	Often (30–79%)	In 1 condition
TRPV4transient receptor potential cation channel subfamily V member 4	Often (30–79%)	In 2 conditions
TTC21Btetratricopeptide repeat domain 21B	Often (30–79%)	In 1 condition
TTNtitin	Often (30–79%)	In 1 condition
UBA1ubiquitin like modifier activating enzyme 1	Often (30–79%)	In 2 conditions
WDR19WD repeat domain 19	Often (30–79%)	In 1 condition
ZNF148zinc finger protein 148	Often (30–79%)	In 1 condition
AAASaladin WD repeat nucleoporin	Sometimes (5–29%)	In 1 condition
ABCA12ATP binding cassette subfamily A member 12	Sometimes (5–29%)	In 1 condition
ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3	Sometimes (5–29%)	In 1 condition
ADAMTSL2ADAMTS like 2	Sometimes (5–29%)	In 1 condition
AGGF1angiogenic factor with G-patch and FHA domains 1	Sometimes (5–29%)	In 1 condition
AGRNagrin	Sometimes (5–29%)	In 1 condition
ALADaminolevulinate dehydratase	Sometimes (5–29%)	In 1 condition
ALG8ALG8 alpha-1,3-glucosyltransferase	Sometimes (5–29%)	In 1 condition
ASAH1N-acylsphingosine amidohydrolase 1	Sometimes (5–29%)	In 2 conditions
B3GALT6beta-1,3-galactosyltransferase 6	Sometimes (5–29%)	In 2 conditions
CCBE1collagen and calcium binding EGF domains 1	Sometimes (5–29%)	In 1 condition
CD4CD4 molecule	Sometimes (5–29%)	In 1 condition
CHD6chromodomain helicase DNA binding protein 6	Sometimes (5–29%)	In 1 condition
CHD7chromodomain helicase DNA binding protein 7	Sometimes (5–29%)	In 1 condition
CISD2CDGSH iron sulfur domain 2	Sometimes (5–29%)	In 1 condition
COL1A1collagen type I alpha 1 chain	Sometimes (5–29%)	In 2 conditions
CPOXcoproporphyrinogen oxidase	Sometimes (5–29%)	In 1 condition
DHRSXdehydrogenase/reductase X-linked	Sometimes (5–29%)	In 1 condition
DNMT3BDNA methyltransferase 3 beta	Sometimes (5–29%)	In 1 condition
DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	Sometimes (5–29%)	In 1 condition
DUX4double homeobox 4	Sometimes (5–29%)	In 1 condition
DUX4L1double homeobox 4 like 1 (pseudogene)	Sometimes (5–29%)	In 1 condition
FAT4FAT atypical cadherin 4	Sometimes (5–29%)	In 1 condition
FBN1fibrillin 1	Sometimes (5–29%)	In 2 conditions
FGFR2fibroblast growth factor receptor 2	Sometimes (5–29%)	In 2 conditions
FHL1four and a half LIM domains 1	Sometimes (5–29%)	In 1 condition
FKRPfukutin related protein	Sometimes (5–29%)	In 2 conditions
FLNAfilamin A	Sometimes (5–29%)	In 2 conditions
FOXI1forkhead box I1	Sometimes (5–29%)	In 1 condition
FRG1FSHD region gene 1	Sometimes (5–29%)	In 1 condition
GLAgalactosidase alpha	Sometimes (5–29%)	In 1 condition
GMPPAGDP-mannose pyrophosphorylase A	Sometimes (5–29%)	In 1 condition
HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	Sometimes (5–29%)	In 2 conditions
HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta	Sometimes (5–29%)	In 1 condition
HIBCH3-hydroxyisobutyryl-CoA hydrolase	Sometimes (5–29%)	In 1 condition
HLA-Bmajor histocompatibility complex, class I, B	Sometimes (5–29%)	In 1 condition
HMBShydroxymethylbilane synthase	Sometimes (5–29%)	In 1 condition
INPP5Kinositol polyphosphate-5-phosphatase K	Sometimes (5–29%)	In 1 condition
IRF4interferon regulatory factor 4	Sometimes (5–29%)	In 1 condition
KCNJ10potassium inwardly rectifying channel subfamily J member 10	Sometimes (5–29%)	In 1 condition
LARGE1LARGE xylosyl- and glucuronyltransferase 1	Sometimes (5–29%)	In 1 condition
LBRlamin B receptor	Sometimes (5–29%)	In 1 condition
LRP5LDL receptor related protein 5	Sometimes (5–29%)	In 1 condition
LTBP3latent transforming growth factor beta binding protein 3	Sometimes (5–29%)	In 1 condition
MCCC1methylcrotonyl-CoA carboxylase subunit 1	Sometimes (5–29%)	In 1 condition
MCCC2methylcrotonyl-CoA carboxylase subunit 2	Sometimes (5–29%)	In 1 condition
MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein	Sometimes (5–29%)	In 1 condition
MCM4minichromosome maintenance complex component 4	Sometimes (5–29%)	In 1 condition
MYOTmyotilin	Sometimes (5–29%)	In 1 condition
OCRLOCRL inositol polyphosphate-5-phosphatase	Sometimes (5–29%)	In 1 condition
PAX7paired box 7	Sometimes (5–29%)	In 1 condition
PEX7peroxisomal biogenesis factor 7	Sometimes (5–29%)	In 2 conditions
PHYHphytanoyl-CoA 2-hydroxylase	Sometimes (5–29%)	In 1 condition
PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	Sometimes (5–29%)	In 1 condition
PMP22peripheral myelin protein 22	Sometimes (5–29%)	In 1 condition
POLGDNA polymerase gamma, catalytic subunit	Sometimes (5–29%)	In 2 conditions
POLG2DNA polymerase gamma 2, accessory subunit	Sometimes (5–29%)	In 1 condition
POLR1BRNA polymerase I subunit B	Sometimes (5–29%)	In 1 condition
POLR1CRNA polymerase I and III subunit C	Sometimes (5–29%)	In 1 condition
POLR1DRNA polymerase I and III subunit D	Sometimes (5–29%)	In 1 condition
POMT1protein O-mannosyltransferase 1	Sometimes (5–29%)	In 1 condition
POMT2protein O-mannosyltransferase 2	Sometimes (5–29%)	In 2 conditions
PRIM1DNA primase subunit 1	Sometimes (5–29%)	In 1 condition
PRKCSHPRKCSH beta subunit of glucosidase II	Sometimes (5–29%)	In 1 condition
RNASEH1ribonuclease H1	Sometimes (5–29%)	In 1 condition
RNU4ATACRNA, U4atac small nuclear	Sometimes (5–29%)	In 1 condition
RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B	Sometimes (5–29%)	In 1 condition
SBF2SET binding factor 2	Sometimes (5–29%)	In 1 condition
SEC63SEC63 protein translocation regulator	Sometimes (5–29%)	In 1 condition
SEMA3Esemaphorin 3E	Sometimes (5–29%)	In 1 condition
SEPTIN9septin 9	Sometimes (5–29%)	In 1 condition
SH3TC2SH3 domain and tetratricopeptide repeats 2	Sometimes (5–29%)	In 1 condition
SLC19A3solute carrier family 19 member 3	Sometimes (5–29%)	In 1 condition
SLC25A4solute carrier family 25 member 4	Sometimes (5–29%)	In 1 condition
SLC26A2solute carrier family 26 member 2	Sometimes (5–29%)	In 3 conditions
SLC26A4solute carrier family 26 member 4	Sometimes (5–29%)	In 1 condition
SLC34A2solute carrier family 34 member 2	Sometimes (5–29%)	In 1 condition
SMAD4SMAD family member 4	Sometimes (5–29%)	In 1 condition
SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1	Sometimes (5–29%)	In 1 condition
STIM1stromal interaction molecule 1	Sometimes (5–29%)	In 1 condition
TCOF1treacle ribosome biogenesis factor 1	Sometimes (5–29%)	In 1 condition
TRAPPC11trafficking protein particle complex subunit 11	Sometimes (5–29%)	In 1 condition
TWNKtwinkle mtDNA helicase	Sometimes (5–29%)	In 2 conditions
VMA21vacuolar ATPase assembly factor VMA21	Sometimes (5–29%)	In 1 condition
WFS1wolframin ER transmembrane glycoprotein	Sometimes (5–29%)	In 2 conditions
GLI3GLI family zinc finger 3	Rarely (1–4%)	In 1 condition
LAMA2laminin subunit alpha 2	Rarely (1–4%)	In 1 condition
MAP2K1mitogen-activated protein kinase kinase 1	Rarely (1–4%)	In 1 condition
NRASNRAS proto-oncogene, GTPase	Rarely (1–4%)	In 1 condition
PBX1PBX homeobox 1	Rarely (1–4%)	In 1 condition
ACEangiotensin I converting enzyme	Not recorded	In 1 condition
ACTN2actinin alpha 2	Not recorded	In 1 condition
AGTangiotensinogen	Not recorded	In 1 condition
AGTR1angiotensin II receptor type 1	Not recorded	In 1 condition
ASNSasparagine synthetase (glutamine-hydrolyzing)	Not recorded	In 1 condition
BMPERBMP binding endothelial regulator	Not recorded	In 1 condition
BOLA3bolA family member 3	Not recorded	In 1 condition
CHRNEcholinergic receptor nicotinic epsilon subunit	Not recorded	In 1 condition
CNTNAP1contactin associated protein 1	Not recorded	In 1 condition
COG7component of oligomeric golgi complex 7	Not recorded	In 1 condition
COL1A2collagen type I alpha 2 chain	Not recorded	In 1 condition
COL6A1collagen type VI alpha 1 chain	Not recorded	In 1 condition
COQ9coenzyme Q9	Not recorded	In 1 condition
CPT2carnitine palmitoyltransferase 2	Not recorded	In 1 condition
CSF2RBcolony stimulating factor 2 receptor subunit beta	Not recorded	In 1 condition
CTSDcathepsin D	Not recorded	In 1 condition
CYP27A1cytochrome P450 family 27 subfamily A member 1	Not recorded	In 1 condition
DCTN1dynactin subunit 1	Not recorded	In 1 condition
EGR2early growth response 2	Not recorded	In 1 condition
EXOSC3exosome component 3	Not recorded	In 1 condition
EXOSC9exosome component 9	Not recorded	In 1 condition
FKTNfukutin	Not recorded	In 1 condition
G6PC3glucose-6-phosphatase catalytic subunit 3	Not recorded	In 1 condition
HRASHRas proto-oncogene, GTPase	Not recorded	In 1 condition
IBA57iron-sulfur cluster assembly factor IBA57	Not recorded	In 1 condition
INVSinversin	Not recorded	In 1 condition
LARS2leucyl-tRNA synthetase 2, mitochondrial	Not recorded	In 1 condition
MARS1methionyl-tRNA synthetase 1	Not recorded	In 1 condition
MEGF10multiple EGF like domains 10	Not recorded	In 1 condition
MYBPC1myosin binding protein C1	Not recorded	In 1 condition
MYMKmyomaker, myoblast fusion factor	Not recorded	In 1 condition
MYO9Amyosin IXA	Not recorded	In 1 condition
NFASCneurofascin	Not recorded	In 1 condition
PIP5K1Cphosphatidylinositol-4-phosphate 5-kinase type 1 gamma	Not recorded	In 1 condition
PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1	Not recorded	In 1 condition
POGLUT1protein O-glucosyltransferase 1	Not recorded	In 1 condition
RENrenin	Not recorded	In 1 condition
RNASEH2Aribonuclease H2 subunit A	Not recorded	In 1 condition
SLC25A1solute carrier family 25 member 1	Not recorded	In 1 condition
SLC25A24solute carrier family 25 member 24	Not recorded	In 1 condition
SLC25A3solute carrier family 25 member 3	Not recorded	In 1 condition
SLC52A2solute carrier family 52 member 2	Not recorded	In 1 condition
SLC52A3solute carrier family 52 member 3	Not recorded	In 1 condition
SMN1survival of motor neuron 1, telomeric	Not recorded	In 1 condition
SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha	Not recorded	In 1 condition
TMEM70transmembrane protein 70	Not recorded	In 1 condition
TPM3tropomyosin 3	Not recorded	In 2 conditions
TRIM2tripartite motif containing 2	Not recorded	In 1 condition
TSFMTs translation elongation factor, mitochondrial	Not recorded	In 1 condition
UFM1ubiquitin fold modifier 1	Not recorded	In 1 condition
VRK1VRK serine/threonine kinase 1	Not recorded	In 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Narrower traits

Broader traits

Functional respiratory abnormality

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
Data release 2026.10.19-9814e911.

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