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Atlas / Disease / Peripheral vascular disease

Peripheral vascular disease

disease
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Also known as disease, peripheral vascularperipheral vascular disordervascular disease, peripheral

Summary

Peripheral vascular disease (MONDO:0005294) is a disease (an umbrella term covering 11 Mondo subtypes) with 1 cohort gene (88 GWAS associations across 49 studies) and 344 clinical trials. Top therapeutic interventions include sodium chloride, cilostazol, and atorvastatin.

At a glance

  • Umbrella term: 11 Mondo subtypes
  • Cohort genes: 1
  • GWAS associations: 88
  • Clinical trials: 344

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical nameperipheral vascular disease
Mondo IDMONDO:0005294
EFOEFO:0003875
MeSHD016491
DOIDDOID:341
ICD-11426429380
NCITC35136
UMLSC0085096
MedGen38790
Is cancer (heuristic)no

Also known as: disease, peripheral vascular · peripheral vascular disorder · vascular disease, peripheral

Data availability: 88 GWAS associations (49 studies) · 1 GenCC gene-disease record.

Disease family

An umbrella term covering 11 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › cardiovascular disorder › vascular disorder › peripheral vascular disease

Related subtypes (59): arterial disorder, ischemic colitis, thrombotic disease, capillary disorder, angiodysplasia, hepatic vascular disorder, vascular hemostatic disease, vein disorder, ischemic disease, venous thromboembolism, ocular vascular disorder, cholesterol embolism, thoracic outlet syndrome, idiopathic spontaneous coronary artery dissection, cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, angioosteohypertrophic syndrome, Bannayan-Riley-Ruvalcaba syndrome, arterial tortuosity syndrome, hereditary arterial and articular multiple calcification syndrome, pulmonary venoocclusive disease, multiple cutaneous and mucosal venous malformations, arterial dissection-lentiginosis syndrome, patent ductus arteriosus, multisystemic smooth muscle dysfunction syndrome, STING-associated vasculopathy with onset in infancy, capillary malformation, Ehlers-Danlos syndrome, vascular-like type, calciphylaxis, neonatal Marfan syndrome, Ehlers-Danlos syndrome, vascular type, lethal arteriopathy syndrome due to fibulin-4 deficiency, congenital portosystemic shunt, arterial calcification of infancy, vasculitis, Loeys-Dietz syndrome, skin vascular disease, lymphatic malformation, familial thoracic aortic aneurysm and aortic dissection, congenital anomaly of superior vena cava, congenital anomaly of the inferior vena cava, congenital anomaly of hepatic vein, congenital renal artery stenosis, internal carotid agenesis, coronary sinus stenosis, coronary sinus atresia, vascular occlusion disorder, vascular insufficiency disorder, blood vessel neoplasm, vascular ectasia, vascular disorder of penis, fibrocartilaginous embolism, vascular malformation, lymphatic vessel neoplasm, neurovascular disorder, superior vena cava syndrome, coronary microvascular disorder, segmental arterial mediolysis, bleeding disorder, vascular-type, arterial tortuosity-bone fragility syndrome

Subtypes (11): diabetic peripheral angiopathy, telangiectasis, priapism, intermittent vascular claudication, peripheral arterial disease, mesenteric vascular occlusion, Raynaud disease, thromboangiitis obliterans, erythromelalgia, May-Thurner syndrome, livedo reticularis

Genetics & variants

GWAS landscape

88 GWAS associations across 49 studies. Top hits map to 13 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
chr9:220932999e-65A0.13
rs104558727e-59LPAA0.22
rs49775743e-50CDKN2B-AS1A0.11
rs557304993e-47LPAC0.22
rs15373721e-45CDKN2B-AS1G0.11
rs47665785e-24ATXN2T0.07
rs15373719e-24CDKN2B-AS1C0.12
chr7:190527335e-21G0.1
chr4:1484275038e-21A0.1
rs18946921e-20SLC19A2 - F5G0.2
chr10:1111011728e-20A0.12
rs729576063e-18PRMT5P1 - EDNRAA0.09
rs107746254e-18ATXN2A0.06
rs5978086e-18ATXN2A0.06
rs107572712e-17CDKN2B-AS1A0.12
rs129143856e-17CHRNA3C0.06
rs103058386e-17PRMT5P1 - EDNRAT0.08
rs174862783e-16CHRNA5A0.06
rs21075951e-15HDAC9 - TWIST1G0.08
rs2444153e-15NFAT5G0.06
rs129295034e-15CYB5B - NFAT5T0.06
rs79031461e-14TCF7L2C0.06
chr11:1027286124e-14G0.07
rs1481162806e-14IRX1 - LINC02063T2.5
rs49708369e-14CELSR2 - PSRC1G0.06
chr6:1605760862e-13T0.16
chr16:538117885e-13A0.05
chr9:221247457e-13G0.09
chr10:1000267912e-12G0.09
chr6:313591063e-12G0.12

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90475996Verma A202442,552383,626Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90475998Verma A202439,519388,133Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90475219Verma A202414,799300,869Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473599UK Biobank Whole-Genome Sequencing Consortium202513,626444,814Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90667768UK Biobank Whole-Genome Sequencing Consortium202513,626444,814Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90475220Verma A202411,019304,649Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90478022Verma A20249,993105,769Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480210Verma A20249,993105,769Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90478026Verma A20249,303106,823Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480209Verma A20249,303106,823Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding1
Tier 2: splice/UTR2
Tier 3: regulatory1
Tier 4: intronic/intergenic46

MAF distribution

BucketVariants
common (>=0.05)33
low_freq (0.01-0.05)2
rare (<0.01)4
unknown11

Functional consequences

ConsequenceCount
intron_variant20
unknown18
intergenic_variant7
3_prime_UTR_variant2
non_coding_transcript_exon_variant1
regulatory_region_variant1
missense_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
chr9:220932990.4879e-65Tier 4: intronic/intergenic
rs104558726160589086A>G0.069intron_variantLPA7e-59Tier 4: intronic/intergenic
rs4977574922098575A>G,T0.429intron_variantCDKN2B-AS13e-50Tier 4: intronic/intergenic
rs557304996160584578C>T0.056intron_variantLPA3e-47Tier 4: intronic/intergenic
rs1537372922103184G>A,T0.378intron_variantCDKN2B-AS11e-45Tier 4: intronic/intergenic
rs476657812111466567T>A0.495intron_variantATXN25e-24Tier 4: intronic/intergenic
rs1537371922099569C>A,G,T0.443intron_variantCDKN2B-AS19e-24Tier 4: intronic/intergenic
chr7:190527330.165e-21Tier 4: intronic/intergenic
chr4:1484275030.1318e-21Tier 4: intronic/intergenic
rs18946921169498416G>A0.038non_coding_transcript_exon_variantSLC19A2 - F51e-20Tier 4: intronic/intergenic
chr10:1111011728e-20Tier 4: intronic/intergenic
rs729576064147478859A>G0.166intergenic_variantPRMT5P1 - EDNRA3e-18Tier 4: intronic/intergenic
rs1077462512111472415A>C,G,T0.403intron_variantATXN24e-18Tier 4: intronic/intergenic
rs59780812111535554A>C,G,T0.398intron_variantATXN26e-18Tier 4: intronic/intergenic
rs10757271922076796A>C,G,T0.495intron_variantCDKN2B-AS12e-17Tier 4: intronic/intergenic
rs129143851578606381C>A,G,T0.382intron_variantCHRNA36e-17Tier 4: intronic/intergenic
rs103058384147479104T>C0.166intergenic_variantPRMT5P1 - EDNRA6e-17Tier 4: intronic/intergenic
rs174862781578575140A>C0.319intron_variantCHRNA53e-16Tier 4: intronic/intergenic
rs2107595719009765G>A,C,T0.18regulatory_region_variantHDAC9 - TWIST11e-15Tier 3: regulatory
rs2444151669632780G>A0.362intron_variantNFAT53e-15Tier 4: intronic/intergenic
rs129295031669531558T>C0.404intergenic_variantCYB5B - NFAT54e-15Tier 4: intronic/intergenic
rs790314610112998590C>G,T0.292intron_variantTCF7L21e-14Tier 4: intronic/intergenic
chr11:1027286120.1814e-14Tier 4: intronic/intergenic
rs14811628053613609T>C0.001intergenic_variantIRX1 - LINC020636e-14Tier 4: intronic/intergenic
rs49708361109279175G>A,C0.226intergenic_variantCELSR2 - PSRC19e-14Tier 4: intronic/intergenic
chr6:1605760862e-13Tier 4: intronic/intergenic
chr16:538117880.3945e-13Tier 4: intronic/intergenic
chr9:221247457e-13Tier 4: intronic/intergenic
chr10:1000267910.4292e-12Tier 4: intronic/intergenic
chr6:313591063e-12Tier 4: intronic/intergenic

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 2 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

GeneClassificationInheritanceDiseaseRecords
NMNAT2ModerateAutosomal recessiveperipheral vascular disease2

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

SubsetGenes
multi_evidence1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
NMNAT2HGNC:16789ENSG00000157064Q9BZQ4Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2gencc

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
NMNAT2Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2Nicotinamide/nicotinate-nucleotide adenylyltransferase that acts as an axon maintenance factor.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

FamilyGenesFoldFDR
Enzyme (other)112.0×0.083

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
NMNAT2Enzyme (other)yes2.7.7.1Cyt_trans-like, Rossmann-like_a/b/a_fold, NMNAT_euk

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)0
broad (>20)1
unknown0

Top tissues across cohort

TissueCohort genes
cortical plate1
frontal pole1
middle temporal gyrus1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
NMNAT2208broadmarkermiddle temporal gyrus, cortical plate, frontal pole

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

SymbolInteractor count
NMNAT21,875

Structural data

PDB: 0 · AlphaFold-only: 1 · No structure: 0

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
NMNAT2Q9BZQ480.34

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 1. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
Nicotinate metabolism1393.8×0.003NMNAT2

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
nicotinamide riboside metabolic process15617.3×7e-04NMNAT2
nicotinamide metabolic process13370.4×7e-04NMNAT2
nucleotide biosynthetic process13370.4×7e-04NMNAT2
NADP+ biosynthetic process12407.4×7e-04NMNAT2
NAD+ biosynthetic process11872.4×7e-04NMNAT2
‘de novo’ NAD+ biosynthetic process from L-tryptophan11872.4×7e-04NMNAT2
NAD+ biosynthetic process via the salvage pathway11872.4×7e-04NMNAT2
negative regulation of cytoplasmic translation11685.2×7e-04NMNAT2
axon development1455.5×0.002NMNAT2

Therapeutics

Drugs indicated for this disease

1 approved, 7 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

DrugDevelopment status
TicagrelorApproved (phase 4)
CilostazolPhase 3 (in late-stage trials)
EcraprostPhase 3 (in late-stage trials)
FibrinPhase 3 (in late-stage trials)
LovastatinPhase 3 (in late-stage trials)
NiacinPhase 3 (in late-stage trials)
Riferminogene PecaplasmidPhase 3 (in late-stage trials)
WarfarinPhase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Alprostadil, Clopidogrel, Daprodustat, Hetastarch, Paclitaxel, Treprostinil.

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

SymbolMoleculesMax phase
NMNAT200

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
NMNAT22.7.7.1, 2.7.7.18nicotinamide-nucleotide adenylyltransferase, nicotinate-nucleotide adenylyltransferase

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

TierDefinitionGenesSymbols
AApproved (phase 4 drug)0
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug0
DDruggable family + AlphaFold only, no drug1NMNAT2
EDifficult family or no structure, no drug0

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

SymbolChEMBL assaysDrugged partners (top 3)
NMNAT20—

Clinical trials & evidence

Clinical trials

Clinical trials: 344.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified210
PHASE332
PHASE431
PHASE221
PHASE121
PHASE1/PHASE215
PHASE2/PHASE311
EARLY_PHASE13

Top trials by phase / activity

NCTPhaseStatusTitle
NCT05804097PHASE4ACTIVE_NOT_RECRUITINGDoes Increasing Oxygen Nurture Your Symptomatic Ischemic Ulcer Sufficiently?
NCT06613191PHASE4NOT_YET_RECRUITINGColonoscopy and Antiplatelet Therapy Trial
NCT00180505PHASE4COMPLETEDASSESS Study: Evaluation of ABSOLUTE™ Stent System for Occluded Arteries
NCT00228384PHASE4COMPLETEDGORE VIABAHN ENDOPROSTHESIS Peripheral Vascular Disease Study
NCT00355537PHASE4COMPLETEDTestosterone Replacement in Diabetes With Vascular Disease (Version 2)
NCT00431249PHASE4COMPLETEDEffects of Cilostazol on VEGF and Oxidative Stress Biomarkers in Hemodialysis Patients With Peripheral Vascular Disease
NCT00437905PHASE4TERMINATEDBalloon Angioplasty vs. Cutting Balloon Angioplasty of Femoropopliteal Arteries- a Randomized Controlled Trial
NCT00442325PHASE4COMPLETEDBenefits Of Using Various Starting Doses Of Atorvastatin On Achievement Of Cholesterol Targets
NCT00442845PHASE4COMPLETEDEstablish The Benefits Of Using Various Starting Doses Of Atorvastatin On Achievement Of Cholesterol Targets (ACTFAST)
NCT00481741PHASE4COMPLETEDStudy of the SafeSeal(TM) Hemostasis Patch Following Percutaneous Coronary Artery and Peripheral Vascular Interventions
NCT00504088PHASE4TERMINATEDPlaque Removal Versus Open Bypass Surgery For Critical Limb Ischemia
NCT00504712PHASE4COMPLETEDTestosterone for Peripheral Vascular Disease
NCT00637741PHASE4COMPLETEDDURABILITY-200: EverFlex 200mm Long Nitinol Stents in TASC C&D Femoropopliteal Lesions
NCT00715416PHASE4COMPLETEDPTA vs. Primary Stenting of SFA Using Self-Expandable Nitinol Stents
NCT00764777PHASE4COMPLETEDEfficacy Study of Iliac Stents to Treat TASC A-B-C-D Iliac Artery Lesions
NCT00822172PHASE4COMPLETEDEvaluation of Cilostazol in Combination With L-Carnitine
NCT00837954PHASE4COMPLETEDTrial to Evaluate the Hemostatic Effect of Lyostypt® Versus Surgicel® in Arterial Bypass Anastomosis
NCT00911417PHASE4COMPLETEDA Study to Collect Intravascular Ultrasound Images Before and After Treatment With the Jetstream System
NCT00986752PHASE4UNKNOWNEfficacy Study of Stenting, Paclitaxel Eluting Balloon or Atherectomy to Treat Peripheral Artery Disease
NCT01083394PHASE4UNKNOWNPaclitaxel Eluting Balloon and Conventional Balloon for In-Stent Restenosis of the Superficial Femoral Artery
NCT01108861PHASE4COMPLETEDGORE VIABAHN® Versus Plain Old Balloon Angioplasty (POBA) for Superficial Femoral Artery (SFA) In-Stent Restenosis
NCT01150617PHASE4TERMINATEDNormalization of Fasting Glucose and the Incidence of Restenosis After Peripheral Angioplasty
NCT01305070PHASE4COMPLETEDStandard Balloon Angioplasty Versus Angioplasty With a Paclitaxel-eluting Balloon for Femoral Artery In-stent Restenosis
NCT01413139PHASE4COMPLETED4-EVER : a Trial Investigating the Safety of 4F Endovascular Treatment of Infra-Inguinal Arterial Stenotic Disease
NCT01952457PHASE4UNKNOWNThe Cook Zilver PTX Drug-eluting Stent Versus Bypass Surgery for the Treatment The Cook Zilver PTX Drug-eluting Stent Versus Bypass Surgery of Femoropopliteal TASC C&D Lesions
NCT02211664PHASE4COMPLETEDPhysician-Initiated Trial Investigating the Efficacy of Endovascular Treatment of Femoropopliteal Arterial Stenotic Disease With the Biotronik Passeo-18 Lux Drug Releasing Balloon and the Biotronik Pulsar-18 Stent (Comparing With 4EVER Trial Results)
NCT02211716PHASE4COMPLETEDPhysician-Initiated Trial Investigating the BeGraft Peripheral Stent Graft System
NCT02212470PHASE4COMPLETEDDrug Eluting Balloon Angioplasty Versus Nitinol Stent Implantation in the Superficial Femoral Artery
NCT02212626PHASE4COMPLETEDProspective, Non-randomized Multi-center, Controlled Physician-initiated Trial: Rotarex Belgium In-stent Occlusion
NCT03207451PHASE4COMPLETEDVorapaxar on Thrombin Generation and Coagulability
NCT03404180PHASE4COMPLETEDPeripheral Nerve Blocks for Above-the-knee Amputations
NCT06032065PHASE3RECRUITINGSMART Exercise for PAD
NCT06656988PHASE3RECRUITINGA Contrast Medium Sparing Strategy Using Automated CO2 Injection During PVI for Prevention of Major Adverse Kidney Events (MAKE)
NCT06686121PHASE3RECRUITINGImproving Mobility After Revascularization in Peripheral Artery Disease
NCT00000614PHASE3COMPLETEDPrevention of Recurrent Venous Thromboembolism (PREVENT)
NCT00032357PHASE3COMPLETEDDoes the Reduction of Total Body Iron Storage (TBIS) Alter Mortality in a Population of Patients With Advanced PVD?
NCT00041925PHASE2/PHASE3COMPLETEDPrevention of Autogenous Vein Graft Failure in Peripheral Artery Bypass Procedures
NCT00059644PHASE3TERMINATEDEfficacy/Safety of Ecraprost in Lipid Emulsion for Treatment of Critical Leg Ischemia Due to Peripheral Arterial Disease
NCT00059657PHASE3COMPLETEDEfficacy/Safety of Ecraprost in Lipid Emulsion for Treatment of Critical Leg Ischemia Due to Peripheral Arterial Disease
NCT00060996PHASE3TERMINATEDStudy of Remodulin in Patients With Critical Limb Ischemia With No Planned Revascularization Procedures

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
SODIUM CHLORIDE410
CILOSTAZOL43
ATORVASTATIN42
LOVASTATIN42
NIACIN42
TESTOSTERONE42
WARFARIN42
ETOPOSIDE PHOSPHATE41
GADOBENATE DIMEGLUMINE41
GADOFOSVESET TRISODIUM41
GADOPENTETATE DIMEGLUMINE41
GENTAMICIN41
LEVOCARNITINE41
OXYGEN41
TARTARIC ACID41
VORAPAXAR41
RIFALAZIL32
ALFIMEPRASE31
CARNITINE31
EDIFOLIGIDE SODIUM31
RIFERMINOGENE PECAPLASMID31
TELCAGEPANT31
HEMOGLOBIN GLUTAMER21
PF-0048979121
CHEMBL474647202
CHEMBL458734302
CHEMBL479824802
CHEMBL422643901
CHEMBL19589201
CHEMBL303959701

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 66

This page pulls from 66 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondbsnpdepmapdiamond_similaritydoidefoensemblentrezesm2_similarityfantom5_genefantom5_promotergenccgenerifgogtopdbgwasgwas_studyhgncicd11intactinterpromedgenmeshmimmondomondochildmondoparentncitorphanetpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureumlsuniprot