You queried the gene SHH in heart:

Symbol Synonyms map_location description
SHH HHG1|HLP3|HPE3|MCOPCB5|SMMCI|ShhNC|TPT|TPTPS 7q36.3 sonic hedgehog
  • Local network

The network contains the top 25 neighbors, and 113 gene pairs are found in total.

Download gene network data

GeneSize: 1CD36GeneSize: 1ADIPOQGeneSize: 1MMP9GeneSize: 1AGTGeneSize: 1APOEGeneSize: 1BCL2GeneSize: 1CTSBGeneSize: 1ABCA1GeneSize: 1PLIN2GeneSize: 1NR1H3GeneSize: 1SPP1GeneSize: 1ICAM1GeneSize: 1SOCS3GeneSize: 1BDNFGeneSize: 1EGR2GeneSize: 1PLTPGeneSize: 1MAPTGeneSize: 1HEXBGeneSize: 1GATA3GeneSize: 1SOD2GeneSize: 1GUSBGeneSize: 1LDLRGeneSize: 1TNFRSF1AGeneSize: 1HMOX1GeneSize: 1CTSDGeneSize: 1RARA

  • Network analysis
  • Gene analysis
  • Local Network
  • Gene Ontology Enrichment
  • Disease/traits enrichment

The weight between SHH and the top connected 25 genes.
Gene A Gene B Weight


Gene Ontology Enrichment Analysis (Biological Process Terms)

Enrichment Results for SHH and its neighbors in heart network

GO IDGO nameFDR
GO:0048568embryonic organ development8.38e-90
GO:0007389pattern specification process5.12e-87
GO:0002009morphogenesis of an epithelium3.64e-81
GO:0060562epithelial tube morphogenesis1.22e-75
GO:0003002regionalization4.50e-75
GO:0003007heart morphogenesis7.60e-71
GO:0048732gland development3.51e-69
GO:0048608reproductive structure development1.75e-65
GO:0061458reproductive system development3.79e-65
GO:0048562embryonic organ morphogenesis2.43e-59
GO:0001655urogenital system development1.82e-54
GO:0060485mesenchyme development7.90e-54
GO:0003206cardiac chamber morphogenesis1.11e-53
GO:0003205cardiac chamber development1.13e-53
GO:0009952anterior/posterior pattern specification6.33e-53
GO:0072001renal system development1.41e-49
GO:0045165cell fate commitment1.81e-48
GO:0048762mesenchymal cell differentiation1.82e-47
GO:0060537muscle tissue development3.73e-47
GO:0060541respiratory system development5.45e-47
GO:0003231cardiac ventricle development6.64e-47
GO:0001822kidney development8.77e-47
GO:0001763morphogenesis of a branching structure1.67e-46
GO:0003151outflow tract morphogenesis2.23e-46
GO:0001525angiogenesis5.43e-46
GO:0061138morphogenesis of a branching epithelium6.26e-45
GO:0014706striated muscle tissue development2.80e-44
GO:0001503ossification5.63e-44
GO:0048738cardiac muscle tissue development1.64e-43
GO:0001701in utero embryonic development3.41e-43
GO:0016055Wnt signaling pathway4.21e-43
GO:0198738cell-cell signaling by wnt6.10e-43
GO:0016331morphogenesis of embryonic epithelium1.24e-42
GO:0048736appendage development3.22e-42
GO:0060173limb development3.22e-42
GO:0055123digestive system development1.25e-41
GO:0050673epithelial cell proliferation1.57e-41
GO:0048754branching morphogenesis of an epithelial tube2.72e-41
GO:0048565digestive tract development2.92e-41
GO:2000027regulation of animal organ morphogenesis5.57e-41
GO:0035108limb morphogenesis1.10e-40
GO:0035107appendage morphogenesis1.10e-40
GO:0003279cardiac septum development1.22e-40
GO:0021915neural tube development1.66e-40
GO:0030323respiratory tube development3.77e-40
GO:0035270endocrine system development4.49e-40
GO:0048880sensory system development5.25e-40
GO:0030278regulation of ossification7.48e-40
GO:0050678regulation of epithelial cell proliferation2.32e-39
GO:0060411cardiac septum morphogenesis5.81e-39


No enrichment is identified for this network.
  • Tissue-specific analysis
  • Gene Ontology
  • Human phenotype ontology
  • GWAS
  • Drug

Tissue-specific expression distribution of SHH.

Embryonic stem cellUrinary bladderBladderEmbryoIntestinal epitheliumMcf7BreastNeuronProstateIntestinePancreasColonLiverLungALL cell lineHeartBrainKidneyBronchusBronchial epitheliumBloodSerumNSCLC cell lineMammary glandBoneNeural stem cellA549AML cell lineCancerous gliaFrontal cortexForebrainCML cell lineHek293Hct11605101520
Tissue or cell linelog2(FPKM+1)

Gene ontology annotations for the queried gene based on Gene Ontology.

BP: Biological Process, MF: Molecular Function, CC: Cellular Component.
Gene GO_ID GO_term Category Evidence
SHHGO:0000122negative regulation of transcription by RNA polymerase IIBPISS
SHHGO:0001569branching involved in blood vessel morphogenesisBPISS
SHHGO:0001570vasculogenesisBPISS
SHHGO:0001656metanephros developmentBPISS
SHHGO:0001658branching involved in ureteric bud morphogenesisBPISS
SHHGO:0001708cell fate specificationBPIBA,ISS
SHHGO:0001755neural crest cell migrationBPISS
SHHGO:0001947heart loopingBPISS
SHHGO:0002052positive regulation of neuroblast proliferationBPIEA
SHHGO:0002076osteoblast developmentBPIEA
SHHGO:0002320lymphoid progenitor cell differentiationBPIMP
SHHGO:0003140determination of left/right asymmetry in lateral mesodermBPISS
SHHGO:0005113patched bindingMFIBA,IDA
SHHGO:0005509calcium ion bindingMFIBA,IDA
SHHGO:0005515protein bindingMFIPI
SHHGO:0005539glycosaminoglycan bindingMFIEA
SHHGO:0005576extracellular regionCCTAS
SHHGO:0005615extracellular spaceCCIBA,IDA,ISS
SHHGO:0005788endoplasmic reticulum lumenCCTAS
SHHGO:0005829cytosolCCTAS
SHHGO:0005886plasma membraneCCTAS
SHHGO:0006897endocytosisBPIEA
SHHGO:0007224smoothened signaling pathwayBPIBA,IDA,IEP,ISS
SHHGO:0007228positive regulation of hh target transcription factor activityBPISS
SHHGO:0007267cell-cell signalingBPISS
SHHGO:0007389pattern specification processBPISS
SHHGO:0007398ectoderm developmentBPIEA
SHHGO:0007405neuroblast proliferationBPISS
SHHGO:0007411axon guidanceBPISS
SHHGO:0007417central nervous system developmentBPISS
SHHGO:0007418ventral midline developmentBPTAS
SHHGO:0007442hindgut morphogenesisBPIEA
SHHGO:0007507heart developmentBPISS
SHHGO:0007596blood coagulationBPIEA
SHHGO:0008209androgen metabolic processBPISS
SHHGO:0008233peptidase activityMFIEA
SHHGO:0008270zinc ion bindingMFIDA
SHHGO:0008284positive regulation of cell population proliferationBPIDA,ISS
SHHGO:0009880embryonic pattern specificationBPTAS
SHHGO:0009949polarity specification of anterior/posterior axisBPISS
SHHGO:0009953dorsal/ventral pattern formationBPISS
SHHGO:0009986cell surfaceCCISS
SHHGO:0010468regulation of gene expressionBPIBA
SHHGO:0014003oligodendrocyte developmentBPIEA
SHHGO:0014706striated muscle tissue developmentBPIEA
SHHGO:0014858positive regulation of skeletal muscle cell proliferationBPIEA
SHHGO:0014902myotube differentiationBPIEA
SHHGO:0016015morphogen activityMFNAS,TAS
SHHGO:0016539intein-mediated protein splicingBPIEA
SHHGO:0016540protein autoprocessingBPIEA
SHHGO:0021513spinal cord dorsal/ventral patterningBPIEA
SHHGO:0021522spinal cord motor neuron differentiationBPIEA
SHHGO:0021794thalamus developmentBPIEA
SHHGO:0021904dorsal/ventral neural tube patterningBPIEA
SHHGO:0021930cerebellar granule cell precursor proliferationBPISS
SHHGO:0021938smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferationBPIEA
SHHGO:0021978telencephalon regionalizationBPIEA
SHHGO:0030010establishment of cell polarityBPIEA
SHHGO:0030162regulation of proteolysisBPISS
SHHGO:0030177positive regulation of Wnt signaling pathwayBPIEA
SHHGO:0030324lung developmentBPISS
SHHGO:0030326embryonic limb morphogenesisBPISS
SHHGO:0030336negative regulation of cell migrationBPISS
SHHGO:0030539male genitalia developmentBPISS
SHHGO:0030850prostate gland developmentBPISS
SHHGO:0030878thyroid gland developmentBPIEA
SHHGO:0030900forebrain developmentBPISS
SHHGO:0030901midbrain developmentBPISS
SHHGO:0030902hindbrain developmentBPISS
SHHGO:0031016pancreas developmentBPIEA
SHHGO:0031069hair follicle morphogenesisBPIEA
SHHGO:0032435negative regulation of proteasomal ubiquitin-dependent protein catabolic processBPIEA
SHHGO:0033077T cell differentiation in thymusBPISS
SHHGO:0033089positive regulation of T cell differentiation in thymusBPISS
SHHGO:0033092positive regulation of immature T cell proliferation in thymusBPISS
SHHGO:0034244negative regulation of transcription elongation from RNA polymerase II promoterBPIEA
SHHGO:0034504protein localization to nucleusBPIEA
SHHGO:0035115embryonic forelimb morphogenesisBPIEA
SHHGO:0035116embryonic hindlimb morphogenesisBPIEA
SHHGO:0042127regulation of cell population proliferationBPISS
SHHGO:0042130negative regulation of T cell proliferationBPIEA
SHHGO:0042307positive regulation of protein import into nucleusBPIEA
SHHGO:0042475odontogenesis of dentin-containing toothBPIEA
SHHGO:0042481regulation of odontogenesisBPISS
SHHGO:0042733embryonic digit morphogenesisBPISS
SHHGO:0043010camera-type eye developmentBPIEA
SHHGO:0043066negative regulation of apoptotic processBPISS
SHHGO:0043237laminin-1 bindingMFISS
SHHGO:0043369CD4-positive or CD8-positive, alpha-beta T cell lineage commitmentBPIDA
SHHGO:0045059positive thymic T cell selectionBPISS
SHHGO:0045060negative thymic T cell selectionBPISS
SHHGO:0045109intermediate filament organizationBPIEA
SHHGO:0045121membrane raftCCISS
SHHGO:0045445myoblast differentiationBPIEA
SHHGO:0045596negative regulation of cell differentiationBPISS
SHHGO:0045880positive regulation of smoothened signaling pathwayBPIDA,ISS
SHHGO:0045893positive regulation of transcription, DNA-templatedBPIDA
SHHGO:0045944positive regulation of transcription by RNA polymerase IIBPISS
SHHGO:0046638positive regulation of alpha-beta T cell differentiationBPISS
SHHGO:0046639negative regulation of alpha-beta T cell differentiationBPIEA
SHHGO:0048468cell developmentBPISS
SHHGO:0048538thymus developmentBPISS
SHHGO:0048557embryonic digestive tract morphogenesisBPIEA
SHHGO:0048617embryonic foregut morphogenesisBPIEA
SHHGO:0048643positive regulation of skeletal muscle tissue developmentBPIEA
SHHGO:0048645animal organ formationBPIEA
SHHGO:0048663neuron fate commitmentBPISS
SHHGO:0048706embryonic skeletal system developmentBPIEA
SHHGO:0048709oligodendrocyte differentiationBPIBA
SHHGO:0048714positive regulation of oligodendrocyte differentiationBPIEA
SHHGO:0048745smooth muscle tissue developmentBPIEP
SHHGO:0048754branching morphogenesis of an epithelial tubeBPISS
SHHGO:0048839inner ear developmentBPIEA
SHHGO:0048859formation of anatomical boundaryBPIEA
SHHGO:0048864stem cell developmentBPISS
SHHGO:0051155positive regulation of striated muscle cell differentiationBPIEA
SHHGO:0051781positive regulation of cell divisionBPIDA
SHHGO:0060020Bergmann glial cell differentiationBPIEA
SHHGO:0060021roof of mouth developmentBPIEA
SHHGO:0060070canonical Wnt signaling pathwayBPIEA
SHHGO:0060174limb bud formationBPIEA
SHHGO:0060428lung epithelium developmentBPIEA
SHHGO:0060439trachea morphogenesisBPIEA
SHHGO:0060445branching involved in salivary gland morphogenesisBPIEA
SHHGO:0060447bud outgrowth involved in lung branchingBPIEA
SHHGO:0060458right lung developmentBPIEA
SHHGO:0060459left lung developmentBPIEA
SHHGO:0060463lung lobe morphogenesisBPIEA
SHHGO:0060484lung-associated mesenchyme developmentBPIEA
SHHGO:0060516primary prostatic bud elongationBPIEA
SHHGO:0060523prostate epithelial cord elongationBPIEA
SHHGO:0060662salivary gland cavitationBPIEA
SHHGO:0060664epithelial cell proliferation involved in salivary gland morphogenesisBPIEA
SHHGO:0060685regulation of prostatic bud formationBPIEA
SHHGO:0060738epithelial-mesenchymal signaling involved in prostate gland developmentBPIDA
SHHGO:0060769positive regulation of epithelial cell proliferation involved in prostate gland developmentBPIEA
SHHGO:0060782regulation of mesenchymal cell proliferation involved in prostate gland developmentBPIEA
SHHGO:0060783mesenchymal smoothened signaling pathway involved in prostate gland developmentBPIEA
SHHGO:0060840artery developmentBPIEA
SHHGO:0060916mesenchymal cell proliferation involved in lung developmentBPIEA
SHHGO:0061053somite developmentBPISS
SHHGO:0061189positive regulation of sclerotome developmentBPIDA
SHHGO:0062023collagen-containing extracellular matrixCCHDA
SHHGO:0071285cellular response to lithium ionBPIEA
SHHGO:0071542dopaminergic neuron differentiationBPTAS
SHHGO:0072136metanephric mesenchymal cell proliferation involved in metanephros developmentBPISS
SHHGO:0072205metanephric collecting duct developmentBPIEP
SHHGO:0090090negative regulation of canonical Wnt signaling pathwayBPIEA
SHHGO:0090370negative regulation of cholesterol effluxBPISS
SHHGO:0097190apoptotic signaling pathwayBPISS
SHHGO:1900175regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetryBPNAS
SHHGO:1900180regulation of protein localization to nucleusBPIDA
SHHGO:1904339negative regulation of dopaminergic neuron differentiationBPIEA
SHHGO:1905327tracheoesophageal septum formationBPIEA
SHHGO:2000062negative regulation of ureter smooth muscle cell differentiationBPISS
SHHGO:2000063positive regulation of ureter smooth muscle cell differentiationBPISS
SHHGO:2000357negative regulation of kidney smooth muscle cell differentiationBPISS
SHHGO:2000358positive regulation of kidney smooth muscle cell differentiationBPISS
SHHGO:2000729positive regulation of mesenchymal cell proliferation involved in ureter developmentBPISS
SHHGO:2001054negative regulation of mesenchymal cell apoptotic processBPIEA

Associated human phenotype annotations for the queried gene based on Human Phenotype Ontology(2019).

Gene HPO-ID HPO-Name Disease
SHHHP:0002120Cerebral cortical atrophySCHIZENCEPHALY
SHHHP:0001274Agenesis of corpus callosumSCHIZENCEPHALY
SHHHP:0010636SchizencephalySCHIZENCEPHALY
SHHHP:0002019ConstipationHoloprosencephaly 9
SHHHP:0000873Diabetes insipidusHoloprosencephaly 9
SHHHP:0002015DysphagiaHoloprosencephaly 9
SHHHP:0009932Single narisHoloprosencephaly 9
SHHHP:0045005Neural tube defectHoloprosencephaly 9
SHHHP:0001508Failure to thriveHoloprosencephaly 9
SHHHP:0012285Abnormal hypothalamus physiologyHoloprosencephaly 9
SHHHP:0009914CyclopiaHoloprosencephaly 9
SHHHP:0009062Infantile axial hypotoniaHoloprosencephaly 9
SHHHP:0011471Gastrostomy tube feeding in infancyHoloprosencephaly 9
SHHHP:0000256MacrocephalyHoloprosencephaly 9
SHHHP:0000407Sensorineural hearing impairmentHoloprosencephaly 9
SHHHP:0000737IrritabilityHoloprosencephaly 9
SHHHP:0002033Poor suckHoloprosencephaly 9
SHHHP:0001249Intellectual disabilityHoloprosencephaly 9
SHHHP:0002540Inability to walkHoloprosencephaly 9
SHHHP:0002827Hip dislocationHoloprosencephaly 9
SHHHP:0000119Abnormality of the genitourinary systemHoloprosencephaly 9
SHHHP:0000741ApathyHoloprosencephaly 9
SHHHP:0007018Attention deficit hyperactivity disorderHoloprosencephaly 9
SHHHP:0000871PanhypopituitarismHoloprosencephaly 9
SHHHP:0001627Abnormal heart morphologyHoloprosencephaly 9
SHHHP:0000824Decreased response to growth hormone stimuation testHoloprosencephaly 9
SHHHP:0001250SeizureHoloprosencephaly 9
SHHHP:0005968Temperature instabilityHoloprosencephaly 9
SHHHP:0002013VomitingHoloprosencephaly 9
SHHHP:0000601HypotelorismHoloprosencephaly 9
SHHHP:0100704Cerebral visual impairmentHoloprosencephaly 9
SHHHP:0002020Gastroesophageal refluxHoloprosencephaly 9
SHHHP:0011951Aspiration pneumoniaHoloprosencephaly 9
SHHHP:0001371Flexion contractureHoloprosencephaly 9
SHHHP:0006979Sleep-wake cycle disturbanceHoloprosencephaly 9
SHHHP:0006528Chronic lung diseaseHoloprosencephaly 9
SHHHP:0004322Short statureHoloprosencephaly 9
SHHHP:0002270Abnormality of the autonomic nervous systemHoloprosencephaly 9
SHHHP:0040327Abnormal morphology of the olfactory bulbHoloprosencephaly 9
SHHHP:0012806ProboscisHoloprosencephaly 9
SHHHP:0001328Specific learning disabilityHoloprosencephaly 9
SHHHP:0000252MicrocephalyHoloprosencephaly 9
SHHHP:0001257SpasticityHoloprosencephaly 9
SHHHP:0000161Median cleft lipHoloprosencephaly 9
SHHHP:0001274Agenesis of corpus callosumHoloprosencephaly 9
SHHHP:0002363Abnormal brainstem morphologyHoloprosencephaly 9
SHHHP:0002650ScoliosisHoloprosencephaly 9
SHHHP:0000218High palateHoloprosencephaly 9
SHHHP:0001254LethargyHoloprosencephaly 9
SHHHP:0012718Morphological abnormality of the gastrointestinal tractHoloprosencephaly 9
SHHHP:0000193Bifid uvulaHoloprosencephaly 9
SHHHP:0002871Central apneaHoloprosencephaly 9
SHHHP:0000739AnxietyHoloprosencephaly 9
SHHHP:0002465Poor speechHoloprosencephaly 9
SHHHP:0011787Central hypothyroidismHoloprosencephaly 9
SHHHP:0000238HydrocephalusHoloprosencephaly 9
SHHHP:0001344Absent speechHoloprosencephaly 9
SHHHP:0006315Solitary median maxillary central incisorHoloprosencephaly 9
SHHHP:0010654Aplasia of the falx cerebriHoloprosencephaly 9
SHHHP:0031860Abnormal heart rate variabilityHoloprosencephaly 9
SHHHP:0000716DepressionHoloprosencephaly 9
SHHHP:0000457Depressed nasal ridgeHoloprosencephaly 9
SHHHP:0002451Limb dystoniaHoloprosencephaly 9
SHHHP:0007301Oromotor apraxiaHoloprosencephaly 9
SHHHP:0002474Expressive language delayHoloprosencephaly 9
SHHHP:0001328Specific learning disabilityHoloprosencephaly 9
SHHHP:0002418Abnormal midbrain morphologyHoloprosencephaly 9
SHHHP:0012650Perisylvian polymicrogyriaHoloprosencephaly 9
SHHHP:0001273Abnormal corpus callosum morphologyHoloprosencephaly 9
SHHHP:0000826Precocious pubertyHoloprosencephaly 9
SHHHP:0000252MicrocephalyHoloprosencephaly 9
SHHHP:0001249Intellectual disabilityHoloprosencephaly 9
SHHHP:0002015DysphagiaHoloprosencephaly 9
SHHHP:0004478Ethmoidal encephaloceleHoloprosencephaly 9
SHHHP:0000830Anterior hypopituitarismHoloprosencephaly 9
SHHHP:0012110Hypoplasia of the ponsHoloprosencephaly 9
SHHHP:0100710ImpulsivityHoloprosencephaly 9
SHHHP:0000736Short attention spanHoloprosencephaly 9
SHHHP:0001680Coarctation of aortaHoloprosencephaly 9
SHHHP:0031913RhombencephalosynapsisHoloprosencephaly 9
SHHHP:0007375Abnormality of the septum pellucidumHoloprosencephaly 9
SHHHP:0001290Generalized hypotoniaHoloprosencephaly 9
SHHHP:0000772Abnormality of the ribsHoloprosencephaly 9
SHHHP:0001355MegalencephalyHoloprosencephaly 9
SHHHP:0003468Abnormal vertebral morphologyHoloprosencephaly 9
SHHHP:0011471Gastrostomy tube feeding in infancyHoloprosencephaly 9
SHHHP:0000863Central diabetes insipidusHoloprosencephaly 9
SHHHP:0001545Anteriorly placed anusHoloprosencephaly 9
SHHHP:0000824Decreased response to growth hormone stimuation testHoloprosencephaly 9
SHHHP:0009062Infantile axial hypotoniaHoloprosencephaly 9
SHHHP:0000741ApathyHoloprosencephaly 9
SHHHP:0031860Abnormal heart rate variabilityHoloprosencephaly 9
SHHHP:0002019ConstipationHoloprosencephaly 9
SHHHP:0001274Agenesis of corpus callosumHoloprosencephaly 9
SHHHP:0010654Aplasia of the falx cerebriHoloprosencephaly 9
SHHHP:0000407Sensorineural hearing impairmentHoloprosencephaly 9
SHHHP:0002270Abnormality of the autonomic nervous systemHoloprosencephaly 9
SHHHP:0002540Inability to walkHoloprosencephaly 9
SHHHP:0000119Abnormality of the genitourinary systemHoloprosencephaly 9
SHHHP:0002451Limb dystoniaHoloprosencephaly 9
SHHHP:0001344Absent speechHoloprosencephaly 9
SHHHP:0006979Sleep-wake cycle disturbanceHoloprosencephaly 9
SHHHP:0009932Single narisHoloprosencephaly 9
SHHHP:0000737IrritabilityHoloprosencephaly 9
SHHHP:0012718Morphological abnormality of the gastrointestinal tractHoloprosencephaly 9
SHHHP:0002650ScoliosisHoloprosencephaly 9
SHHHP:0000218High palateHoloprosencephaly 9
SHHHP:0006528Chronic lung diseaseHoloprosencephaly 9
SHHHP:0005968Temperature instabilityHoloprosencephaly 9
SHHHP:0000739AnxietyHoloprosencephaly 9
SHHHP:0000873Diabetes insipidusHoloprosencephaly 9
SHHHP:0007018Attention deficit hyperactivity disorderHoloprosencephaly 9
SHHHP:0002871Central apneaHoloprosencephaly 9
SHHHP:0001371Flexion contractureHoloprosencephaly 9
SHHHP:0002015DysphagiaHoloprosencephaly 9
SHHHP:0000716DepressionHoloprosencephaly 9
SHHHP:0000457Depressed nasal ridgeHoloprosencephaly 9
SHHHP:0001508Failure to thriveHoloprosencephaly 9
SHHHP:0011951Aspiration pneumoniaHoloprosencephaly 9
SHHHP:0045005Neural tube defectHoloprosencephaly 9
SHHHP:0000256MacrocephalyHoloprosencephaly 9
SHHHP:0001627Abnormal heart morphologyHoloprosencephaly 9
SHHHP:0002363Abnormal brainstem morphologyHoloprosencephaly 9
SHHHP:0001257SpasticityHoloprosencephaly 9
SHHHP:0000601HypotelorismHoloprosencephaly 9
SHHHP:0002013VomitingHoloprosencephaly 9
SHHHP:0100704Cerebral visual impairmentHoloprosencephaly 9
SHHHP:0006315Solitary median maxillary central incisorHoloprosencephaly 9
SHHHP:0002827Hip dislocationHoloprosencephaly 9
SHHHP:0000238HydrocephalusHoloprosencephaly 9
SHHHP:0011787Central hypothyroidismHoloprosencephaly 9
SHHHP:0001249Intellectual disabilityHoloprosencephaly 9
SHHHP:0002465Poor speechHoloprosencephaly 9
SHHHP:0001328Specific learning disabilityHoloprosencephaly 9
SHHHP:0004322Short statureHoloprosencephaly 9
SHHHP:0007301Oromotor apraxiaHoloprosencephaly 9
SHHHP:0000161Median cleft lipHoloprosencephaly 9
SHHHP:0000193Bifid uvulaHoloprosencephaly 9
SHHHP:0012806ProboscisHoloprosencephaly 9
SHHHP:0000252MicrocephalyHoloprosencephaly 9
SHHHP:0040327Abnormal morphology of the olfactory bulbHoloprosencephaly 9
SHHHP:0000871PanhypopituitarismHoloprosencephaly 9
SHHHP:0009914CyclopiaHoloprosencephaly 9
SHHHP:0012285Abnormal hypothalamus physiologyHoloprosencephaly 9
SHHHP:0001250SeizureHoloprosencephaly 9
SHHHP:0002033Poor suckHoloprosencephaly 9
SHHHP:0011471Gastrostomy tube feeding in infancyHoloprosencephaly 9
SHHHP:0001254LethargyHoloprosencephaly 9
SHHHP:0002020Gastroesophageal refluxHoloprosencephaly 9
SHHHP:0045005Neural tube defectHoloprosencephaly 9
SHHHP:0001249Intellectual disabilityHoloprosencephaly 9
SHHHP:0000824Decreased response to growth hormone stimuation testHoloprosencephaly 9
SHHHP:0000871PanhypopituitarismHoloprosencephaly 9
SHHHP:0031860Abnormal heart rate variabilityHoloprosencephaly 9
SHHHP:0002020Gastroesophageal refluxHoloprosencephaly 9
SHHHP:0000252MicrocephalyHoloprosencephaly 9
SHHHP:0004322Short statureHoloprosencephaly 9
SHHHP:0000218High palateHoloprosencephaly 9
SHHHP:0002033Poor suckHoloprosencephaly 9
SHHHP:0001508Failure to thriveHoloprosencephaly 9
SHHHP:0002650ScoliosisHoloprosencephaly 9
SHHHP:0011951Aspiration pneumoniaHoloprosencephaly 9
SHHHP:0002015DysphagiaHoloprosencephaly 9
SHHHP:0000119Abnormality of the genitourinary systemHoloprosencephaly 9
SHHHP:0009932Single narisHoloprosencephaly 9
SHHHP:0000256MacrocephalyHoloprosencephaly 9
SHHHP:0002540Inability to walkHoloprosencephaly 9
SHHHP:0000601HypotelorismHoloprosencephaly 9
SHHHP:0000737IrritabilityHoloprosencephaly 9
SHHHP:0001627Abnormal heart morphologyHoloprosencephaly 9
SHHHP:0001254LethargyHoloprosencephaly 9
SHHHP:0002363Abnormal brainstem morphologyHoloprosencephaly 9
SHHHP:0040327Abnormal morphology of the olfactory bulbHoloprosencephaly 9
SHHHP:0000873Diabetes insipidusHoloprosencephaly 9
SHHHP:0002871Central apneaHoloprosencephaly 9
SHHHP:0002827Hip dislocationHoloprosencephaly 9
SHHHP:0006979Sleep-wake cycle disturbanceHoloprosencephaly 9
SHHHP:0007018Attention deficit hyperactivity disorderHoloprosencephaly 9
SHHHP:0000457Depressed nasal ridgeHoloprosencephaly 9
SHHHP:0011471Gastrostomy tube feeding in infancyHoloprosencephaly 9
SHHHP:0011787Central hypothyroidismHoloprosencephaly 9
SHHHP:0001274Agenesis of corpus callosumHoloprosencephaly 9
SHHHP:0012718Morphological abnormality of the gastrointestinal tractHoloprosencephaly 9
SHHHP:0006528Chronic lung diseaseHoloprosencephaly 9
SHHHP:0012806ProboscisHoloprosencephaly 9
SHHHP:0001328Specific learning disabilityHoloprosencephaly 9
SHHHP:0001257SpasticityHoloprosencephaly 9
SHHHP:0002465Poor speechHoloprosencephaly 9
SHHHP:0002013VomitingHoloprosencephaly 9
SHHHP:0009914CyclopiaHoloprosencephaly 9
SHHHP:0000741ApathyHoloprosencephaly 9
SHHHP:0001371Flexion contractureHoloprosencephaly 9
SHHHP:0000161Median cleft lipHoloprosencephaly 9
SHHHP:0001344Absent speechHoloprosencephaly 9
SHHHP:0002019ConstipationHoloprosencephaly 9
SHHHP:0100704Cerebral visual impairmentHoloprosencephaly 9
SHHHP:0002270Abnormality of the autonomic nervous systemHoloprosencephaly 9
SHHHP:0000716DepressionHoloprosencephaly 9
SHHHP:0005968Temperature instabilityHoloprosencephaly 9
SHHHP:0000739AnxietyHoloprosencephaly 9
SHHHP:0006315Solitary median maxillary central incisorHoloprosencephaly 9
SHHHP:0009062Infantile axial hypotoniaHoloprosencephaly 9
SHHHP:0000407Sensorineural hearing impairmentHoloprosencephaly 9
SHHHP:0012285Abnormal hypothalamus physiologyHoloprosencephaly 9
SHHHP:0010654Aplasia of the falx cerebriHoloprosencephaly 9
SHHHP:0002451Limb dystoniaHoloprosencephaly 9
SHHHP:0007301Oromotor apraxiaHoloprosencephaly 9
SHHHP:0000238HydrocephalusHoloprosencephaly 9
SHHHP:0001250SeizureHoloprosencephaly 9
SHHHP:0000193Bifid uvulaHoloprosencephaly 9
SHHHP:0001177Preaxial hand polydactylyTibia, hypoplasia or aplasia of, with polydactyly
SHHHP:0100490Camptodactyly of fingerTibia, hypoplasia or aplasia of, with polydactyly
SHHHP:0006487Bowing of the long bonesTibia, hypoplasia or aplasia of, with polydactyly
SHHHP:0006101Finger syndactylyTibia, hypoplasia or aplasia of, with polydactyly
SHHHP:0001162Postaxial hand polydactylyTibia, hypoplasia or aplasia of, with polydactyly
SHHHP:0010503Fibular duplicationTibia, hypoplasia or aplasia of, with polydactyly
SHHHP:0012107Increased fibular diameterTibia, hypoplasia or aplasia of, with polydactyly
SHHHP:0000437Depressed nasal tipTibia, hypoplasia or aplasia of, with polydactyly
SHHHP:0001199Triphalangeal thumbTibia, hypoplasia or aplasia of, with polydactyly
SHHHP:0004209Clinodactyly of the 5th fingerTibia, hypoplasia or aplasia of, with polydactyly
SHHHP:0004322Short statureTibia, hypoplasia or aplasia of, with polydactyly
SHHHP:0005736Short tibiaTibia, hypoplasia or aplasia of, with polydactyly
SHHHP:0001376Limitation of joint mobilityTibia, hypoplasia or aplasia of, with polydactyly
SHHHP:0009601Aplasia/Hypoplasia of the thumbTibia, hypoplasia or aplasia of, with polydactyly
SHHHP:0004322Short statureSolitary median maxillary central incisor syndrome
SHHHP:0000568MicrophthalmiaSolitary median maxillary central incisor syndrome
SHHHP:0003828Variable expressivitySolitary median maxillary central incisor syndrome
SHHHP:0009914CyclopiaSolitary median maxillary central incisor syndrome
SHHHP:0000453Choanal atresiaSolitary median maxillary central incisor syndrome
SHHHP:0002916Abnormality of chromosome segregationSolitary median maxillary central incisor syndrome
SHHHP:0000458AnosmiaSolitary median maxillary central incisor syndrome
SHHHP:0100789Torus palatinusSolitary median maxillary central incisor syndrome
SHHHP:0000204Cleft upper lipSolitary median maxillary central incisor syndrome
SHHHP:0000601HypotelorismSolitary median maxillary central incisor syndrome
SHHHP:0025011Pyriform aperture stenosisSolitary median maxillary central incisor syndrome
SHHHP:0000006Autosomal dominant inheritanceSolitary median maxillary central incisor syndrome
SHHHP:0001360HoloprosencephalySolitary median maxillary central incisor syndrome
SHHHP:0006315Solitary median maxillary central incisorSolitary median maxillary central incisor syndrome
SHHHP:0002708Prominent median palatal rapheSolitary median maxillary central incisor syndrome
SHHHP:0000528AnophthalmiaSolitary median maxillary central incisor syndrome
SHHHP:0000252MicrocephalySolitary median maxillary central incisor syndrome
SHHHP:0000589ColobomaSolitary median maxillary central incisor syndrome
SHHHP:0000824Decreased response to growth hormone stimuation testSolitary median maxillary central incisor syndrome
SHHHP:0001328Specific learning disabilitySolitary median maxillary central incisor syndrome
SHHHP:0000252MicrocephalySolitary median maxillary central incisor syndrome
SHHHP:0001739Abnormal nasopharynx morphologySolitary median maxillary central incisor syndrome
SHHHP:0001256Intellectual disability, mildSolitary median maxillary central incisor syndrome
SHHHP:0010644Midnasal stenosisSolitary median maxillary central incisor syndrome
SHHHP:0007633Bilateral microphthalmosMicrophthalmia, isolated, with coloboma 5
SHHHP:0000504Abnormality of visionMicrophthalmia, isolated, with coloboma 5
SHHHP:0000612Iris colobomaMicrophthalmia, isolated, with coloboma 5
SHHHP:0003828Variable expressivityMicrophthalmia, isolated, with coloboma 5
SHHHP:0000202Oral cleftMicrophthalmia, isolated, with coloboma 5
SHHHP:0001360HoloprosencephalyMicrophthalmia, isolated, with coloboma 5
SHHHP:0000006Autosomal dominant inheritanceMicrophthalmia, isolated, with coloboma 5
SHHHP:0000528AnophthalmiaMicrophthalmia, isolated, with coloboma 5
SHHHP:0000567Chorioretinal colobomaMicrophthalmia, isolated, with coloboma 5
SHHHP:0000568MicrophthalmiaMicrophthalmia, isolated, with coloboma 5
SHHHP:0003829Incomplete penetranceMicrophthalmia, isolated, with coloboma 5
SHHHP:0001199Triphalangeal thumbSyndactyly, type IV
SHHHP:0100490Camptodactyly of fingerSyndactyly, type IV
SHHHP:0001161Hand polydactylySyndactyly, type IV
SHHHP:0001376Limitation of joint mobilitySyndactyly, type IV
SHHHP:0005736Short tibiaSyndactyly, type IV
SHHHP:00015016 metacarpalsSyndactyly, type IV
SHHHP:0001770Toe syndactylySyndactyly, type IV
SHHHP:0001829Foot polydactylySyndactyly, type IV
SHHHP:00107081-5 finger syndactylySyndactyly, type IV
SHHHP:0000126HydronephrosisHoloprosencephaly 3
SHHHP:0005280Depressed nasal bridgeHoloprosencephaly 3
SHHHP:0012806ProboscisHoloprosencephaly 3
SHHHP:0000272Malar flatteningHoloprosencephaly 3
SHHHP:0002119VentriculomegalyHoloprosencephaly 3
SHHHP:0000520ProptosisHoloprosencephaly 3
SHHHP:0009914CyclopiaHoloprosencephaly 3
SHHHP:0000601HypotelorismHoloprosencephaly 3
SHHHP:0009932Single narisHoloprosencephaly 3
SHHHP:0006315Solitary median maxillary central incisorHoloprosencephaly 3
SHHHP:0001263Global developmental delayHoloprosencephaly 3
SHHHP:0000863Central diabetes insipidusHoloprosencephaly 3
SHHHP:0410030Cleft lipHoloprosencephaly 3
SHHHP:0000252MicrocephalyHoloprosencephaly 3
SHHHP:0002000Short columellaHoloprosencephaly 3
SHHHP:0001249Intellectual disabilityHoloprosencephaly 3
SHHHP:0003829Incomplete penetranceHoloprosencephaly 3
SHHHP:0000006Autosomal dominant inheritanceHoloprosencephaly 3
SHHHP:0001360HoloprosencephalyHoloprosencephaly 3
SHHHP:0011800Midface retrusionHoloprosencephaly 3
SHHHP:0000193Bifid uvulaHoloprosencephaly 3
SHHHP:0000873Diabetes insipidusHoloprosencephaly 9
SHHHP:0002451Limb dystoniaHoloprosencephaly 9
SHHHP:0000193Bifid uvulaHoloprosencephaly 9
SHHHP:0000119Abnormality of the genitourinary systemHoloprosencephaly 9
SHHHP:0040327Abnormal morphology of the olfactory bulbHoloprosencephaly 9
SHHHP:0000256MacrocephalyHoloprosencephaly 9
SHHHP:0009062Infantile axial hypotoniaHoloprosencephaly 9
SHHHP:0001328Specific learning disabilityHoloprosencephaly 9
SHHHP:0002827Hip dislocationHoloprosencephaly 9
SHHHP:0012806ProboscisHoloprosencephaly 9
SHHHP:0009932Single narisHoloprosencephaly 9
SHHHP:0001250SeizureHoloprosencephaly 9
SHHHP:0002363Abnormal brainstem morphologyHoloprosencephaly 9
SHHHP:0001257SpasticityHoloprosencephaly 9
SHHHP:0002871Central apneaHoloprosencephaly 9
SHHHP:0004322Short statureHoloprosencephaly 9
SHHHP:0002020Gastroesophageal refluxHoloprosencephaly 9
SHHHP:0001274Agenesis of corpus callosumHoloprosencephaly 9
SHHHP:0000739AnxietyHoloprosencephaly 9
SHHHP:0011787Central hypothyroidismHoloprosencephaly 9
SHHHP:0002013VomitingHoloprosencephaly 9
SHHHP:0006979Sleep-wake cycle disturbanceHoloprosencephaly 9
SHHHP:0000871PanhypopituitarismHoloprosencephaly 9
SHHHP:0031860Abnormal heart rate variabilityHoloprosencephaly 9
SHHHP:0007018Attention deficit hyperactivity disorderHoloprosencephaly 9
SHHHP:0001371Flexion contractureHoloprosencephaly 9
SHHHP:0001344Absent speechHoloprosencephaly 9
SHHHP:0002270Abnormality of the autonomic nervous systemHoloprosencephaly 9
SHHHP:0001249Intellectual disabilityHoloprosencephaly 9
SHHHP:0002033Poor suckHoloprosencephaly 9
SHHHP:0000741ApathyHoloprosencephaly 9
SHHHP:0000218High palateHoloprosencephaly 9
SHHHP:0010654Aplasia of the falx cerebriHoloprosencephaly 9
SHHHP:0100704Cerebral visual impairmentHoloprosencephaly 9
SHHHP:0006315Solitary median maxillary central incisorHoloprosencephaly 9
SHHHP:0011951Aspiration pneumoniaHoloprosencephaly 9
SHHHP:0045005Neural tube defectHoloprosencephaly 9
SHHHP:0002540Inability to walkHoloprosencephaly 9
SHHHP:0000252MicrocephalyHoloprosencephaly 9
SHHHP:0001508Failure to thriveHoloprosencephaly 9
SHHHP:0000457Depressed nasal ridgeHoloprosencephaly 9
SHHHP:0002015DysphagiaHoloprosencephaly 9
SHHHP:0002465Poor speechHoloprosencephaly 9
SHHHP:0005968Temperature instabilityHoloprosencephaly 9
SHHHP:0012285Abnormal hypothalamus physiologyHoloprosencephaly 9
SHHHP:0000716DepressionHoloprosencephaly 9
SHHHP:0000601HypotelorismHoloprosencephaly 9
SHHHP:0006528Chronic lung diseaseHoloprosencephaly 9
SHHHP:0000238HydrocephalusHoloprosencephaly 9
SHHHP:0001254LethargyHoloprosencephaly 9
SHHHP:0002019ConstipationHoloprosencephaly 9
SHHHP:0011471Gastrostomy tube feeding in infancyHoloprosencephaly 9
SHHHP:0012718Morphological abnormality of the gastrointestinal tractHoloprosencephaly 9
SHHHP:0000161Median cleft lipHoloprosencephaly 9
SHHHP:0002650ScoliosisHoloprosencephaly 9
SHHHP:0007301Oromotor apraxiaHoloprosencephaly 9
SHHHP:0000737IrritabilityHoloprosencephaly 9
SHHHP:0000824Decreased response to growth hormone stimuation testHoloprosencephaly 9
SHHHP:0000407Sensorineural hearing impairmentHoloprosencephaly 9
SHHHP:0001627Abnormal heart morphologyHoloprosencephaly 9
SHHHP:0009914CyclopiaHoloprosencephaly 9
SHHHP:0006315Solitary median maxillary central incisorHoloprosencephaly 9
SHHHP:0000871PanhypopituitarismHoloprosencephaly 9
SHHHP:0000612Iris colobomaHoloprosencephaly 9
SHHHP:0001028HemangiomaHoloprosencephaly 9
SHHHP:0000322Short philtrumHoloprosencephaly 9
SHHHP:0001250SeizureHoloprosencephaly 9
SHHHP:0002099AsthmaHoloprosencephaly 9
SHHHP:0001249Intellectual disabilityHoloprosencephaly 9
SHHHP:0010644Midnasal stenosisHoloprosencephaly 9
SHHHP:0000175Cleft palateHoloprosencephaly 9
SHHHP:0001636Tetralogy of FallotHoloprosencephaly 9
SHHHP:0000446Narrow nasal bridgeHoloprosencephaly 9
SHHHP:0009914CyclopiaHoloprosencephaly 9
SHHHP:0000252MicrocephalyHoloprosencephaly 9
SHHHP:0001274Agenesis of corpus callosumHoloprosencephaly 9
SHHHP:0001360HoloprosencephalyHoloprosencephaly 9
SHHHP:0003458EMG: myopathic abnormalitiesHoloprosencephaly 9
SHHHP:0000062Ambiguous genitaliaHoloprosencephaly 9
SHHHP:0000453Choanal atresiaHoloprosencephaly 9
SHHHP:0000104Renal agenesisHoloprosencephaly 9
SHHHP:0002650ScoliosisHoloprosencephaly 9
SHHHP:0008736Hypoplasia of penisHoloprosencephaly 9
SHHHP:0004322Short statureHoloprosencephaly 9
SHHHP:0009800Maternal diabetesHoloprosencephaly 9
SHHHP:0000601HypotelorismHoloprosencephaly 9
SHHHP:0000463Anteverted naresHoloprosencephaly 9
SHHHP:0001622Premature birthHoloprosencephaly 9
SHHHP:0001511Intrauterine growth retardationHoloprosencephaly 9
SHHHP:0000486StrabismusHoloprosencephaly 9
SHHHP:0003196Short noseHoloprosencephaly 9
SHHHP:0010804Tented upper lip vermilionHoloprosencephaly 9
SHHHP:0000821HypothyroidismHoloprosencephaly 9
SHHHP:0002247Duodenal atresiaHoloprosencephaly 9

Associated disease/traits for the queried gene based on GWAS Catalog(2020-11-20).


Gene Diseases/traits SNP p-value PMID
SHHEstimated glomerular filtration rate in non-diabeticsrs2887622e-1131451708
SHHCreatinine levelsrs8986962e-0829403010

Associated drugs for the queried gene based on DGIdb (2021-May).

'-': indicating missing value not available in DGIdb.

Gene DrugName Score Type Source
SHHROBOTNIKININ37.87-DTC
SHHVISMODEGIB12.62-DTC
SHHCAFFEINE1.02-NCI
SHHRETINOIC ACID--NCI

Copyright @ Hunan Provincial Key Lab on Bioinformatics

School of Computer Science and Engineering, Central South University, Changsha, Hunan Province, P.R. China