Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the nervous system (HP:0000707)help
Parent Node:
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Abnormal nervous system physiology (HP:0012638)help
..Starting node
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Abnormal central motor function (HP:0011442)help
Term ID: 11442
Name: Abnormal central motor function
Synonym: Abnormality of central motor function
Definition: An anomaly of the control or production of movement in the central nervous system.
Comments:
Reference: HP:0011442
Genes and Diseases:
 
       Child Nodes:
........expandTorticollis (HP:0000473) help
................... HP:0002544 Retrocollis
........expandRigidity (HP:0002063) help
................... HP:0002396 Cogwheel rigidity
................... HP:0007076 Extrapyramidal muscular rigidity
................... HP:0011444 Decorticate rigidity
................... HP:0025013 Decerebrate rigidity
........expandAbnormality of extrapyramidal motor function (HP:0002071) help
................... HP:0001300 Parkinsonism
................... HP:0002067 Bradykinesia
................... HP:0002267 Exaggerated startle response
................... HP:0007076 Extrapyramidal muscular rigidity
................... HP:0007153 Progressive extrapyramidal movement disorder
................... HP:0007308 Extrapyramidal dyskinesia
................... HP:0011445 Athetoid cerebral palsy
........expandApraxia (HP:0002186) help
................... HP:0000657 Oculomotor apraxia
................... HP:0000658 Eyelid apraxia
................... HP:0007301 Oromotor apraxia
................... HP:0010521 Gait apraxia
................... HP:0011098 Speech apraxia
................... HP:0030217 Limb apraxia
........expandUpper motor neuron dysfunction (HP:0002493) help
................... HP:0001276 Hypertonia
................... HP:0007256 Abnormal pyramidal signs
................... HP:0007299 Dysfunction of lateral corticospinal tracts
................... HP:0010549 Weakness due to upper motor neuron dysfunction
........expandParalysis (HP:0003470) help
................... HP:0001605 Vocal cord paralysis
................... HP:0002203 Respiratory paralysis
................... HP:0003768 Periodic paralysis
................... HP:0006597 Diaphragmatic paralysis
................... HP:0007024 Pseudobulbar paralysis
................... HP:0007209 Facial paralysis
........expandCentral hypotonia (HP:0011398) help
........expandAbnormality of coordination (HP:0011443) help
................... HP:0001251 Ataxia
................... HP:0001350 Slurred speech
................... HP:0002275 Poor motor coordination
................... HP:0002311 Incoordination
................... HP:0040200 Motor impersistence
........expandAbnormality of central motor conduction (HP:0012079) help
........expandCerebral palsy (HP:0100021) help
................... HP:0011445 Athetoid cerebral palsy

 Sister Nodes: 
..expandAbnormal brain positron emission tomography (HP:0012657) help
..expandAbnormal central sensory function (HP:0011730) help
..expandAbnormal hypothalamus physiology (HP:0012285) help
..expandAbnormal metabolic brain imaging by MRS (HP:0012705) help
..expandAbnormal nervous system electrophysiology (HP:0001311) help
..expandAbnormal synaptic transmission (HP:0012535) help
..expandAbnormality of higher mental function (HP:0011446) help
..expandAbnormality of intracranial pressure (HP:0012640) help
..expandAbnormality of movement (HP:0100022) help
..expandAbnormality of pineal physiology (HP:0012688) help
..expandAbnormality of taste sensation (HP:0000223) help
..expandAbnormality of the sense of smell (HP:0004408) help
..expandBehavioral abnormality (HP:0000708) help
..expandBulbar palsy (HP:0001283) help
..expandBulbar signs (HP:0002483) help
..expandCataplexy (HP:0002524) help
..expandDysphagia (HP:0002015) help
..expandEasy fatigability (HP:0003388) help
..expandEncephalopathy (HP:0001298) help
..expandHeadache (HP:0002315) help
..expandHypocalcemic tetany (HP:0003472) help
..expandNeurodevelopmental abnormality (HP:0012759) help
..expandPseudobulbar signs (HP:0002200) help
..expandSeizure (HP:0001250) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011442HP:0011442Abnormal central motor function0 CL E G H
HP:0011442HP:0003470Paralysis1 CL E G H
HP:0011442HP:0004305Involuntary movements1 CL E G H
HP:0011442HP:0002071Abnormality of extrapyramidal motor function1 CL E G H
HP:0011442HP:0011443Abnormality of coordination1 CL E G H
HP:0011442HP:0002186Apraxia1 CL E G H
HP:0011442HP:0002493Upper motor neuron dysfunction1 CL E G H
HP:0011442HP:0100021Cerebral palsy1 CL E G H
HP:0011442HP:0000473Torticollis1 CL E G H
HP:0011442HP:0012079Abnormality of central motor conduction1 CL E G H
HP:0011442HP:0002524Cataplexy1 CL E G H
HP:0011442HP:0010521Gait apraxia2 CL E G H
HP:0011442HP:0040200Motor impersistence2 CL E G H
HP:0011442HP:0011098Speech apraxia2 CL E G H
HP:0011442HP:0032506Alien limb phenomenon2 CL E G H
HP:0011442HP:0011445Athetoid cerebral palsy2 CL E G H
HP:0011442HP:0001337Tremor2 CL E G H
HP:0011442HP:0002203Respiratory paralysis2 CL E G H
HP:0011442HP:0001300Parkinsonism2 CL E G H
HP:0011442HP:0001251Ataxia2 CL E G H
HP:0011442HP:0001605Vocal cord paralysis2 CL E G H
HP:0011442HP:0007076Extrapyramidal muscular rigidity2 CL E G H
HP:0011442HP:0002311Incoordination2 CL E G H
HP:0011442HP:0008767Self-mutilation of tongue and lips due to involuntary movements2 CL E G H
HP:0011442HP:0007301Oromotor apraxia2 CL E G H
HP:0011442HP:0007256Abnormal pyramidal sign2 CL E G H
HP:0011442HP:0007209Facial paralysis2 CL E G H
HP:0011442HP:0006597Diaphragmatic paralysis2 CL E G H
HP:0011442HP:0002544Retrocollis2 CL E G H
HP:0011442HP:0007308Extrapyramidal dyskinesia2 CL E G H
HP:0011442HP:0002169Clonus2 CL E G H
HP:0011442HP:0000657Oculomotor apraxia2 CL E G H
HP:0011442HP:0007166Paroxysmal dyskinesia2 CL E G H
HP:0011442HP:0001257Spasticity2 CL E G H
HP:0011442HP:0030217Limb apraxia2 CL E G H
HP:0011442HP:0002275Poor motor coordination2 CL E G H
HP:0011442HP:0002072Chorea2 CL E G H
HP:0011442HP:0010549Weakness due to upper motor neuron dysfunction2 CL E G H
HP:0011442HP:0002267Exaggerated startle response2 CL E G H
HP:0011442HP:0031990Chvostek sign2 CL E G H
HP:0011442HP:0007024Pseudobulbar paralysis2 CL E G H
HP:0011442HP:0007153Progressive extrapyramidal movement disorder2 CL E G H
HP:0011442HP:0002380Fasciculations2 CL E G H
HP:0011442HP:0032588Hand apraxia2 CL E G H
HP:0011442HP:0001336Myoclonus2 CL E G H
HP:0011442HP:0001350Slurred speech2 CL E G H
HP:0011442HP:0100033Tics2 CL E G H
HP:0011442HP:0002305Athetosis2 CL E G H
HP:0011442HP:0000658Eyelid apraxia2 CL E G H
HP:0011442HP:0007299Dysfunction of lateral corticospinal tracts2 CL E G H
HP:0011442HP:0002067Bradykinesia2 CL E G H
HP:0011442HP:0100248Hemiballismus2 CL E G H
HP:0011442HP:0003768Periodic paralysis2 CL E G H
HP:0011442HP:0000733Stereotypy2 CL E G H
HP:0011442HP:0002061Lower limb spasticity3 CL E G H
HP:0011442HP:0100023Recurrent hand flapping3 CL E G H
HP:0011442HP:0030182Tetraplegia/tetraparesis3 CL E G H
HP:0011442HP:0003487Babinski sign3 CL E G H
HP:0011442HP:0007015Poor gross motor coordination3 CL E G H
HP:0011442HP:0100703Tongue thrusting3 CL E G H
HP:0011442HP:0002501Spasticity of pharyngeal muscles3 CL E G H
HP:0011442HP:0001308Tongue fasciculations3 CL E G H
HP:0011442HP:0007000Morning myoclonic jerks3 CL E G H
HP:0011442HP:0030180Oppenheim reflex3 CL E G H
HP:0011442HP:0011448Ankle clonus3 CL E G H
HP:0011442HP:0002073Progressive cerebellar ataxia3 CL E G H
HP:0011442HP:0031986Polyminimyoclonus3 CL E G H
HP:0011442HP:0011728Elbow clonus3 CL E G H
HP:0011442HP:0001310Dysmetria3 CL E G H
HP:0011442HP:0007089Facial-lingual fasciculations3 CL E G H
HP:0011442HP:0001604Vocal cord paresis3 CL E G H
HP:0011442HP:0031866Clasp-knife sign3 CL E G H
HP:0011442HP:0030218Punding3 CL E G H
HP:0011442HP:0011099Spastic hemiparesis3 CL E G H
HP:0011442HP:0002322Resting tremor3 CL E G H
HP:0011442HP:0010867Dyssynergia3 CL E G H
HP:0011442HP:0040148Cortical myoclonus3 CL E G H
HP:0011442HP:0007010Poor fine motor coordination3 CL E G H
HP:0011442HP:0012171Stereotypical hand wringing3 CL E G H
HP:0011442HP:0002510Spastic tetraplegia3 CL E G H
HP:0011442HP:0002066Gait ataxia3 CL E G H
HP:0011442HP:0045084Limb myoclonus3 CL E G H
HP:0011442HP:0031993Hoffmann sign3 CL E G H
HP:0011442HP:0100035Phonic tics3 CL E G H
HP:0011442HP:0001266Choreoathetosis3 CL E G H
HP:0011442HP:0002470Nonprogressive cerebellar ataxia3 CL E G H
HP:0011442HP:0010530Palatal myoclonus3 CL E G H
HP:0011442HP:0004374Hemiplegia/hemiparesis3 CL E G H
HP:0011442HP:0008153Periodic hypokalemic paresis3 CL E G H
HP:0011442HP:0002064Spastic gait3 CL E G H
HP:0011442HP:0002370Poor coordination3 CL E G H
HP:0011442HP:0001483Eye poking3 CL E G H
HP:0011442HP:0012462Chin myoclonus3 CL E G H
HP:0011442HP:0012172Stereotypical body rocking3 CL E G H
HP:0011442HP:0030188Tremor by anatomical site3 CL E G H
HP:0011442HP:0002491Spasticity of facial muscles3 CL E G H
HP:0011442HP:0002131Episodic ataxia3 CL E G H
HP:0011442HP:0025097Eyelid myoclonus3 CL E G H
HP:0011442HP:0030181Gordon reflex3 CL E G H
HP:0011442HP:0007164Slowed slurred speech3 CL E G H
HP:0011442HP:0100034Motor tics3 CL E G H
HP:0011442HP:0002359Frequent falls3 CL E G H
HP:0011442HP:0002070Limb ataxia3 CL E G H
HP:0011442HP:0002191Progressive spasticity3 CL E G H
HP:0011442HP:0007215Periodic hyperkalemic paralysis3 CL E G H
HP:0011442HP:0002078Truncal ataxia3 CL E G H
HP:0011442HP:0010531Spinal myoclonus3 CL E G H
HP:0011442HP:0002464Spastic dysarthria3 CL E G H
HP:0011442HP:0002075Dysdiadochokinesis3 CL E G H
HP:0011442HP:0008757Unilateral vocal cord paralysis3 CL E G H
HP:0011442HP:0010551Paraplegia/paraparesis3 CL E G H
HP:0011442HP:0040201Simultanapraxia3 CL E G H
HP:0011442HP:0008762Repetitive compulsive behavior3 CL E G H
HP:0011442HP:0001285Spastic tetraparesis3 CL E G H
HP:0011442HP:0030665Rubral tremor3 CL E G H
HP:0011442HP:0025357Erratic myoclonus3 CL E G H
HP:0011442HP:0010875Chaddock reflex3 CL E G H
HP:0011442HP:0006986Upper limb spasticity3 CL E G H
HP:0011442HP:0003739Myoclonic spasms3 CL E G H
HP:0011442HP:0002179Opisthotonus3 CL E G H
HP:0011442HP:0002345Action tremor3 CL E G H
HP:0011442HP:0007289Limb fasciculations3 CL E G H
HP:0011442HP:0002497Spastic ataxia3 CL E G H
HP:0011442HP:0012323Sleep myoclonus3 CL E G H
HP:0011442HP:0001264Spastic diplegia3 CL E G H
HP:0011442HP:0002548Parkinsonism with favorable response to dopaminergic medication3 CL E G H
HP:0011442HP:0009878Cerebellar ataxia associated with quadrupedal gait3 CL E G H
HP:0011442HP:0011449Knee clonus3 CL E G H
HP:0011442HP:0012820Bilateral vocal cord paralysis3 CL E G H
HP:0011442HP:0007158Progressive extrapyramidal muscular rigidity3 CL E G H
HP:0011442HP:0002312Clumsiness3 CL E G H
HP:0011442HP:0031957Spastic hemiparetic gait4 CL E G H
HP:0011442HP:0002406Limb dysmetria4 CL E G H
HP:0011442HP:0032507Labiomental fasciculations4 CL E G H
HP:0011442HP:0012822Bilateral vocal cord paresis4 CL E G H
HP:0011442HP:0025387Pill-rolling tremor4 CL E G H
HP:0011442HP:0010869Asynergia4 CL E G H
HP:0011442HP:0033054Myoclonic tremor4 CL E G H
HP:0011442HP:0002346Head tremor4 CL E G H
HP:0011442HP:0012651Abasia4 CL E G H
HP:0011442HP:0007098Paroxysmal choreoathetosis4 CL E G H
HP:0011442HP:0001269Hemiparesis4 CL E G H
HP:0011442HP:0007057Poor hand-eye coordination4 CL E G H
HP:0011442HP:0010550Paraplegia4 CL E G H
HP:0011442HP:0002378Hand tremor4 CL E G H
HP:0011442HP:0031947Tongue tremor4 CL E G H
HP:0011442HP:0002478Progressive spastic quadriplegia4 CL E G H
HP:0011442HP:0030186Kinetic tremor4 CL E G H
HP:0011442HP:0007221Progressive truncal ataxia4 CL E G H
HP:0011442HP:0030187Titubation4 CL E G H
HP:0011442HP:0002385Paraparesis4 CL E G H
HP:0011442HP:0012477Vocal tremor4 CL E G H
HP:0011442HP:0002445Tetraplegia4 CL E G H
HP:0011442HP:0032006Lip tremor4 CL E G H
HP:0011442HP:0010828Hemifacial spasm4 CL E G H
HP:0011442HP:0030185Isometric tremor4 CL E G H
HP:0011442HP:0031958Spastic paraparetic gait4 CL E G H
HP:0011442HP:0012821Unilateral vocal cord paresis4 CL E G H
HP:0011442HP:0002313Spastic paraparesis4 CL E G H
HP:0011442HP:0002273Tetraparesis4 CL E G H
HP:0011442HP:0010868Ocular dyssynergia4 CL E G H
HP:0011442HP:0001258Spastic paraplegia4 CL E G H
HP:0011442HP:0200085Limb tremor4 CL E G H
HP:0011442HP:0007240Progressive gait ataxia4 CL E G H
HP:0011442HP:0007326Progressive choreoathetosis4 CL E G H
HP:0011442HP:0002301Hemiplegia4 CL E G H
HP:0011442HP:0002174Postural tremor4 CL E G H
HP:0011442HP:0002599Head titubation5 CL E G H
HP:0011442HP:0011099Spastic hemiparesis5 CL E G H
HP:0011442HP:0006983Slowly progressive spastic quadriparesis5 CL E G H
HP:0011442HP:0002080Intention tremor5 CL E G H
HP:0011442HP:0040293Right hemiplegia5 CL E G H
HP:0011442HP:0007199Progressive spastic paraparesis5 CL E G H
HP:0011442HP:0200072Episodic quadriplegia5 CL E G H
HP:0011442HP:0007020Progressive spastic paraplegia5 CL E G H
HP:0011442HP:0040292Left hemiplegia5 CL E G H
HP:0011442HP:0012407Scissor gait5 CL E G H
HP:0011442HP:0020036Upper limb dysmetria5 CL E G H
HP:0011442HP:0002313Spastic paraparesis5 CL E G H
HP:0011442HP:0001285Spastic tetraparesis5 CL E G H
HP:0011442HP:0001258Spastic paraplegia5 CL E G H
HP:0011442HP:0012194Episodic hemiplegia5 CL E G H
HP:0011442HP:0007351Upper limb postural tremor5 CL E G H
HP:0011442HP:0030147Truncal titubation5 CL E G H
HP:0011442HP:0020035Lower limb dysmetria5 CL E G H
HP:0011442HP:0007199Progressive spastic paraparesis6 CL E G H
HP:0011442HP:0007020Progressive spastic paraplegia6 CL E G H


Genes (1446) :AAAS AARS AARS2 AASS ABCA1 ABCA5 ABCA7 ABCB6 ABCB7 ABCC6 ABCC8 ABCD1 ABHD12 ABHD5 ACAT2 ACD ACER3 ACO2 ACOX1 ACOX2 ACP2 ACP5 ACTA1 ADA2 ADAM22 ADAMTS13 ADAR ADAT3 ADCY5 ADD3 ADGRG1 ADGRV1 ADNP ADPRHL2 ADRA2B ADSL AFG3L2 AGA AGRN AGTPBP1 AHI1 AIFM1 AIMP1 AIP AIPL1 AKT1 ALAD ALDH18A1 ALDH3A2 ALDH5A1 ALG11 ALG13 ALG14 ALG2 ALG6 ALOX12B ALOXE3 ALS2 AMACR AMPD2 AMT ANG ANGPTL6 ANK3 ANKLE2 ANKRD55 ANO10 ANO3 ANOS1 ANXA11 AP1S2 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APC APOA1 APOB APOE APP APTX AR ARCN1 ARF1 ARFGEF2 ARG1 ARHGAP31 ARHGEF2 ARHGEF9 ARID2 ARL13B ARL3 ARL6IP1 ARMC9 ARNT2 ARSA ARSG ARSI ARV1 ARX ASAH1 ASL ASNS ASPA ASS1 ATAD1 ATAD3A ATCAY ATG5 ATL1 ATM ATN1 ATP13A2 ATP1A2 ATP1A3 ATP2B3 ATP6 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATP7B ATP8 ATP8A2 ATPAF2 ATRX ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8 ATXN8OS AUH AUTS2 B3GALNT2 B3GALT6 B4GALNT1 B4GAT1 B9D1 BAG3 BAP1 BAZ1B BBS1 BCAP31 BCKDHA BCKDHB BCL11B BCOR BCR BCS1L BDNF BEAN1 BICD2 BMP15 BMPR1B BOLA3 BRAF BRAT1 BSCL2 BTD C12ORF4 C12ORF65 C19ORF12 C4A C9ORF72 CA2 CA8 CACNA1A CACNA1B CACNA1D CACNA1E CACNA1G CACNA1S CACNB4 CAMK2A CAMTA1 CAPN1 CAPN3 CARS2 CASK CASR CAV1 CAV3 CBS CC2D2A CCDC141 CCDC88A CCDC88C CCNF CCR1 CCT5 CD247 CD28 CD59 CDC42 CDH23 CDK4 CDKL5 CDKN2A CDKN2B CDKN2D CEP104 CEP120 CEP126 CEP164 CEP290 CEP41 CEP78 CERS1 CFAP410 CHAMP1 CHAT CHCHD10 CHCHD2 CHD1 CHD2 CHD3 CHD7 CHMP1A CHMP2B CIB2 CISD2 CIT CIZ1 CKAP2L CLCN2 CLCN4 CLCN7 CLIC2 CLIP2 CLN3 CLN5 CLN6 CLN8 CLP1 CLPB CLRN1 CLTC CNKSR2 CNPY3 CNTN2 CNTNAP1 CNTNAP2 COA7 COA8 COASY COG2 COG4 COG5 COL12A1 COL13A1 COL18A1 COL3A1 COL4A1 COL4A2 COL4A3BP COL6A1 COL6A2 COL6A3 COLEC11 COLQ COPB2 COQ2 COQ8A COX1 COX10 COX14 COX15 COX2 COX20 COX3 COX6B1 COX8A CP CPLANE1 CPLX1 CPOX CPS1 CPT1A CPT1C CRAT CRB1 CREBBP CRKL CRLF1 CRPPA CRX CSF1R CSPP1 CSTB CTBP1 CTC1 CTDP1 CTLA4 CTNNA2 CTNNB1 CTNND2 CTSD CTSF CTSH CUL4B CUX2 CWF19L1 CYB5R3 CYFIP2 CYP26C1 CYP27A1 CYP2U1 CYP7B1 CYTB DAB1 DAO DARS DARS2 DBT DCAF17 DCC DCTN1 DCX DDB2 DDC DDHD1 DDHD2 DDOST DDX3X DEAF1 DENND5A DGUOK DHCR24 DHDDS DHFR DHX30 DKC1 DKK1 DLAT DLD DLL4 DMXL2 DNAJC12 DNAJC13 DNAJC19 DNAJC3 DNAJC5 DNAJC6 DNAL4 DNASE1L3 DNM1 DNM1L DNMT1 DOCK3 DOCK6 DOCK8 DPAGT1 DPM1 DPM3 DPYD DPYS DRD2 DSTYK DUSP6 DYNC1H1 DYRK1A EARS2 EBF3 ECHS1 EDNRB EED EEF1A2 EEF2 EFHC1 EHMT1 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S3 EIF4G1 ELN ELOVL4 ELOVL5 ELP1 ELP2 EMD EML1 ENG ENPP1 ENTPD1 EOGT EP300 EPCAM EPHA4 EPM2A EPRS ERAP1 ERBB4 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERGIC1 ERLIN1 ERLIN2 ERMARD ETHE1 EXOSC3 EXOSC8 EXOSC9 EXT1 EXT2 EZH2 FA2H FAH FAM126A FAN1 FAR1 FARS2 FAS FASTKD2 FAT2 FBXL4 FBXO38 FBXO7 FEZF1 FGF12 FGF14 FGF17 FGF8 FGFR1 FGFRL1 FH FHL1 FIG4 FKRP FKTN FLCN FLI1 FLII FLNA FLRT1 FLRT3 FLVCR1 FMR1 FOXG1 FOXI1 FOXP1 FOXP2 FOXRED1 FRMD4A FRMPD4 FRRS1L FSHR FTL FUCA1 FUS FXN GAA GABBR2 GABRA1 GABRA3 GABRB1 GABRB2 GABRB3 GABRD GABRG2 GAD1 GALC GALT GAMT GAN GATAD2B GBA GBA2 GBE1 GCDH GCH1 GCK GCSH GDAP1 GDF3 GDF6 GFAP GFM1 GFPT1 GGT1 GIGYF2 GJA1 GJB1 GJB2 GJB6 GJC2 GLA GLB1 GLDC GLE1 GLRA1 GLRB GLRX5 GLYCTK GM2A GMPPA GMPPB GNA11 GNAL GNAO1 GNAQ GNAS GNB5 GOSR2 GPAA1 GPHN GPI GPR101 GPR88 GPT2 GRIA3 GRIA4 GRID2 GRIK2 GRIN1 GRIN2A GRIN2B GRIN2D GRM1 GRN GSS GTF2I GTF2IRD1 GTPBP2 GUCY1A1 GUCY2D GUF1 HACE1 HADHA HADHB HARS HCFC1 HCN1 HCRT HDAC4 HECW2 HEPACAM HERC1 HERC2 HESX1 HEXA HEXB HIBCH HIC1 HIKESHI HINT1 HK1 HLA-B HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 HLCS HMBS HMGA2 HMGCL HNF1A HNF4A HNRNPA1 HNRNPA2B1 HNRNPH2 HPCA HPGD HPRT1 HS6ST1 HSD17B10 HSD17B4 HSPB1 HSPB8 HSPD1 HTRA1 HTRA2 HTT HYLS1 HYMAI IARS IBA57 ICK IDH1 IDH2 IDUA IFIH1 IFRD1 IFT140 IFT172 IGHMBP2 IKBKG IL10 IL12A IL12A-AS1 IL17RD IL23R IL2RA IL2RB IMPDH1 INPP5E INPP5K INS INVS IPW IQCB1 IQSEC2 IRF2BPL ISCA1 ISCA2 ITM2B ITPA ITPR1 JAM3 JPH3 JRK KANK1 KATNB1 KBTBD13 KCNA1 KCNA2 KCNA4 KCNAB2 KCNB1 KCNC1 KCNC3 KCND3 KCNE3 KCNJ10 KCNJ11 KCNJ13 KCNJ18 KCNJ2 KCNJ6 KCNMA1 KCNQ2 KCNQ3 KCNT1 KCTD17 KCTD7 KDM1A KDM5C KIAA0556 KIAA0586 KIAA0753 KIAA1109 KIDINS220 KIF11 KIF1A KIF1B KIF1C KIF2A KIF5A KIF5C KIF7 KISS1R KIT KLC2 KLHL41 KLLN KLRC4 KMT2A KMT2B KPTN KRAS KY KYNU L1CAM L2HGDH LAGE3 LAMA1 LAMB1 LAMB2 LARGE1 LCA5 LEMD3 LETM1 LIAS LIMK1 LIMS2 LINGO1 LIPT1 LIPT2 LMBRD1 LMNA LMNB1 LMNB2 LNPK LONP1 LRAT LRP4 LRPPRC LRRK2 LRSAM1 LYRM7 LYST MAG MAGEL2 MAN2B1 MAOA MAPK1 MAPK10 MAPT MARS MARS2 MAST1 MATR3 MAX MBD5 MC1R MCCC1 MCCC2 MCOLN1 MDH2 MECP2 MECR MED13L MED17 MED25 MEF2C MEFV MEGF10 MEN1 MEOX1 MFF MFN2 MFSD2A MFSD8 MGAT2 MGMT MICOS13 MICU1 MITF MKRN3 MKRN3-AS1 MKS1 MLC1 MLH1 MLH3 MLXIPL MMAA MMACHC MMADHC MME MMUT MOCS1 MOCS2 MOG MORC2 MPDU1 MPV17 MPZ MRE11 MRPS22 MRPS34 MSH2 MSH6 MSTO1 MTFMT MTHFR MTM1 MTO1 MTOR MTPAP MTR MTTP MVK MYCN MYD88 MYH14 MYO5A MYO7A MYO9A MYOT MYPN NAA10 NACC1 NADK2 NAGA NALCN NANS NARS2 NAT8L NAXE ND1 ND2 ND4 ND4L ND5 ND6 NDE1 NDN NDP NDUFA1 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA9 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NECAP1 NEFH NEFL NEK1 NEK9 NELFA NEU1 NEXMIF NF1 NF2 NGLY1 NHLRC1 NIPA1 NKX2-1 NKX6-2 NLGN4X NME1 NMNAT1 NOL3 NONO NOP56 NOTCH1 NOTCH3 NPAP1 NPC1 NPC2 NPHP1 NPHP3 NPHP4 NR4A2 NR5A1 NSD1 NSD2 NSMF NSUN2 NT5C2 NTN1 NTNG1 NTRK2 NUBPL NUP107 NUP62 NUS1 OCLN OCRL OFD1 OGDH OPA1 OPA3 OPHN1 OPTN OSGEP OSTM1 OTC OTUD6B OTX2 P2RY11 PACS1 PAFAH1B1 PAH PAK1 PANK2 PARK7 PARN PAX3 PAX6 PC PCBD1 PCDH12 PCDH15 PCDH19 PCLO PCNA PCYT1A PDCD10 PDE10A PDE6D PDE8B PDGFB PDGFRB PDHA1 PDHX PDK3 PDP1 PDX1 PDYN PDZD7 PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PFN1 PGAP1 PGAP3 PGK1 PGM3 PHACTR1 PHGDH PHYH PIBF1 PIEZO2 PIGA PIGG PIGN PIGS PIGT PIGV PIK3CA PIK3R5 PINK1 PITX3 PLA2G6 PLAA PLAGL1 PLCB1 PLD3 PLEC PLEKHG4 PLP1 PLPBP PMM2 PMP2 PMP22 PMPCA PMPCB PMS1 PMS2 PNKD PNKP PNP PNPLA2 PNPLA6 PNPLA8 PNPO PNPT1 PODXL POLA1 POLG POLG2 POLR1C POLR3A POLR3B POMGNT1 POMT1 POMT2 PON1 PON2 PON3 POT1 PPARGC1A PPOX PPP1R15B PPP2R2B PPP3CA PPT1 PQBP1 PRDM16 PRDM8 PRDX1 PRF1 PRICKLE1 PRKAR1B PRKCG PRKN PRKRA PRNP PROC PRODH PROK2 PROKR2 PRPH PRPS1 PRRT2 PRSS12 PRTN3 PRUNE1 PRX PSAP PSAT1 PSEN1 PSEN2 PSMB8 PSMC3IP PTEN PTPN2 PTPN22 PTRH2 PTS PUF60 PUM1 PURA PWAR1 PWRN1 PYCR2 PYROXD1 QDPR QRICH1 RAB11B RAB18 RAB27A RAB39B RAB3GAP1 RAB3GAP2 RAC1 RAD50 RAD51 RAI1 RANBP2 RARS RARS2 RASA1 RBM28 RBPJ RD3 RDH12 REEP1 REEP2 REPS1 RERE RET RETREG1 RFC2 RFT1 RHOBTB2 RIPK4 RLIM RMND1 RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF125 RNF135 RNF168 RNF170 RNF216 RNR1 RNU12 RNU4ATAC ROGDI RORA RPE65 RPGRIP1 RPGRIP1L RPIA RPL10 RPS6KA3 RRM2B RTEL1 RTN2 RTN4IP1 RTTN RUBCN RUSC2 RYR1 SACS SAMD12 SAMD9 SAMD9L SAMHD1 SARS SC5D SCARB2 SCN1A SCN1B SCN2A SCN3A SCN4A SCN8A SCN9A SCO1 SCO2 SCP2 SCYL1 SDCCAG8 SDHA SDHAF1 SDHAF2 SDHB SDHC SDHD SEC23B SEMA3A SEPSECS SERAC1 SERPINI1 SET SETBP1 SETD2 SETX SFXN4 SGCA SGCE SGCG SGPL1 SH3TC2 SHANK3 SIGMAR1 SIK1 SIL1 SIX6 SKI SLC12A3 SLC12A5 SLC12A6 SLC13A5 SLC16A2 SLC17A5 SLC18A2 SLC18A3 SLC19A2 SLC19A3 SLC1A2 SLC1A3 SLC1A4 SLC20A2 SLC22A5 SLC25A1 SLC25A12 SLC25A15 SLC25A19 SLC25A22 SLC25A4 SLC25A46 SLC26A4 SLC2A1 SLC2A3 SLC30A10 SLC30A9 SLC33A1 SLC35A1 SLC39A14 SLC39A4 SLC46A1 SLC4A1 SLC52A2 SLC52A3 SLC5A7 SLC6A1 SLC6A17 SLC6A19 SLC6A3 SLC6A5 SLC6A8 SLC6A9 SLC9A1 SLC9A6 SLCO2A1 SLITRK1 SMAD4 SMARCB1 SMC1A SMN1 SMPD1 SNAI2 SNAP25 SNAP29 SNCA SNCAIP SNCB SNORD115-1 SNORD116-1 SNORD118 SNRPN SNX10 SNX14 SOD1 SON SORL1 SOX10 SOX2 SOX3 SOX5 SP110 SPART SPAST SPATA5 SPATA7 SPG11 SPG21 SPG7 SPIDR SPR SPRY4 SPTAN1 SPTBN2 SQSTM1 SRPX2 ST3GAL3 ST3GAL5 STAMBP STAT3 STAT4 STIM1 STN1 STUB1 STX16 STXBP1 SUCLA2 SUCLG1 SUFU SUMF1 SUOX SURF1 SUZ12 SYNE1 SYNE2 SYNGAP1 SYNJ1 SYT1 SYT14 SYT2 SZT2 TACO1 TACR3 TAF1 TAF15 TAF2 TANGO2 TARDBP TAT TBC1D20 TBC1D23 TBC1D24 TBCD TBCE TBK1 TBL2 TBP TBX1 TCF4 TCIRG1 TCN2 TCTN1 TCTN2 TCTN3 TDP1 TDP2 TECPR2 TELO2 TENM4 TERC TERF2IP TERT TFG TGFB1 TGFBR2 TGFBR3 TGM6 TH THAP1 THOC2 TIMM50 TIMM8A TIMMDC1 TINF2 TK2 TKT TLR4 TMEM106B TMEM107 TMEM127 TMEM138 TMEM216 TMEM231 TMEM237 TMEM240 TMEM43 TMEM67 TMEM70 TMTC3 TNFRSF1B TNFSF11 TNFSF4 TNNT1 TOE1 TOMM40 TOP3A TOR1A TP53 TP53RK TPI1 TPK1 TPM2 TPM3 TPP1 TPP2 TPRKB TRAF3IP1 TRAK1 TRAPPC11 TRAPPC12 TRAPPC6B TREM2 TREX1 TRIM2 TRIT1 TRMT5 TRNC TRNE TRNF TRNH TRNI TRNK TRNL1 TRNN TRNP TRNQ TRNS1 TRNS2 TRNT1 TRNV TRNW TRPC3 TRPV4 TSC1 TSC2 TSEN15 TSEN2 TSEN34 TSEN54 TSFM TSHR TSPYL1 TTBK2 TTC19 TTI2 TTN TTPA TTR TUBA1A TUBB TUBB2B TUBB3 TUBB4A TUBG1 TUFM TULP1 TWNK TXN2 TYROBP UBA1 UBA5 UBAC2 UBE3A UBQLN2 UBTF UCHL1 UFC1 UFM1 UGT1A1 UNC13A UNC80 UQCRQ UROC1 USH1C USH1G USH2A USP8 VAMP1 VAPB VARS2 VCP VHL VLDLR VPS11 VPS13A VPS13C VPS13D VPS35 VPS37A VPS53 VRK1 VWA3B WARS2 WASHC4 WASHC5 WDR11 WDR19 WDR26 WDR4 WDR45 WDR45B WDR48 WDR62 WDR73 WDR81 WFS1 WHCR WHRN WT1 WWOX XPA XPC XPNPEP3 XPR1 XRCC1 XRCC4 YME1L1 YWHAE YWHAG YY1 ZC4H2 ZFP57 ZFR ZFYVE26 ZFYVE27 ZNF335 ZNF365 ZNF423 ZNF592 ZNHIT3 ZSWIM6

Diseases (1681) :615889 99885 99886 618 97240 963 300884 242100 803 85408 420485 615034 612936 614067 606693 602481 71517 128235 300423 1766 164400 603516 276238 276241 276244 164500 615834 904 614299 100070 275864 275872 401901 105550 97 71518 614860 369929 615474 612300 420492 204300 616271 616286 75840 610 158810 254090 265050 48818 221820 612199 615362 2073 909 241080 238722 910 617171 36412 604121 36899 617330 254780 51188 602473 260300 2396 612577 370348 613454 613670 603513 206583 25 98808 128230 272750 329466 615073 617810 617820 607485 161400 268800 605285 52430 99657 224500 2796 300322 608634 158590 600142 163634 93473 93474 612900 98768 616398 397946 79314 236792 616299 352723 778 615673 277400 614250 276432 79279 301020 618238 618224 617022 136 257220 607625 258501 165300 505237 603285 615716 612953 99015 98810 118800 203700 94125 176200 210571 612067 137440 612304 607822 616140 612079 616260 682 613724 614739 604218 159900 263800 615905 613710 71277 606777 238455 99966 614561 616354 101001 248900 70594 600224 370938 612621 352596 615338 98759 607136 276193 613908 98806 602629 98773 607454 128100 247691 225750 192315 181405 615157 300570 98805 128101 221770 238446 300857 237900 615159 616541 100996 869 231550 442835 616339 2026 1020 609153 2802 301310 240800 300100 612674 98907 275630 614055 3322 617762 614559 617308 171439 820 182410 615688 617933 274150 51 225154 615010 615286 324588 606703 617008 231178 615873 618170 86814 607876 103050 101109 313772 614487 610246 208400 98914 618276 220493 475 608629 101078 300816 260600 201 447753 219150 601162 616586 816 270200 22 271980 603147 247604 293168 300605 79095 614307 615809 605899 611895 615493 284289 613728 478 308700 304340 280763 614066 306511 613647 615558 104310 324708 104300 1168 208920 99429 313200 618185 300607 617808 612291 618161 615926 309256 309263 309271 250100 231183 617020 452 2508 3175 308350 300215 3451 159950 207900 23 615574 314911 215700 618011 3197 617183 100984 100 208900 101 125370 306674 314632 513436 617225 569 1171 614820 601338 302500 104 535000 551500 363654 300911 2834 357074 565 277900 480 604273 301040 98755 98756 183090 109150 98760 608768 250950 101006 615287 617120 612954 209900 369939 300475 248600 618092 261330 256000 124000 893 217012 117210 615290 243 616849 115150 614498 363400 615924 79241 253260 613559 615035 289560 614298 615043 117 613227 98758 617106 141500 618285 616795 618087 681 79102 618095 314647 614756 616672 163937 300749 606721 2318 216360 1454 617507 139578 256840 3162 616737 91347 231169 3095 300672 616781 617761 65684 3156 610188 614464 616230 616579 615911 615048 616710 529965 617682 1942 2382 618205 614961 614696 600795 3463 617090 3255 667 166600 300886 204200 256731 600143 411493 615803 617854 615400 618186 610042 220110 436271 397725 615643 263501 613489 267750 175780 614483 616351 617800 98933 227510 607426 139485 612016 550 2754 614615 352582 194190 79273 121300 237300 617917 180849 397715 615636 254800 48431 604168 618174 610127 85293 300354 618141 453521 616127 618008 213700 363710 615945 615281 611105 178509 607641 168605 300067 608643 300536 457260 300958 819 617281 329314 35107 602398 617836 613861 613839 617804 305000 268882 245348 2394 246900 616113 617384 411602 66634 162350 391411 615528 614388 314404 608093 608799 222748 614104 614924 616277 277580 3447 609306 1941 610253 603896 300148 194050 133190 423296 1764 223900 617270 98863 600348 401810 144 617951 220295 278730 610651 278760 278780 133540 278800 216400 401785 615681 209951 614678 618065 321 277590 171629 276700 85163 616154 614946 615471 615575 171695 29072 253800 610883 320406 609033 93256 300623 261144 705 602081 618241 616819 300983 616981 157846 606159 349 608030 95 232300 33069 617153 617829 617113 1606 79239 612736 643 256850 615074 77260 77261 230900 231000 233910 203450 609060 231950 2710 164200 101075 302800 320401 608804 301500 230650 230600 149400 614619 401866 220120 309246 615350 615473 617493 614018 613470 616939 477673 616281 300699 617864 616204 611092 614254 245570 616139 613970 617691 614831 614706 266130 617988 617065 464282 616756 309541 615871 1001 604004 613925 272800 250620 531 616881 137200 79242 79276 176000 94063 246450 324575 263455 300986 510 606595 617248 248111 399 143100 617435 617093 93476 266920 615630 604320 464 308300 213300 559 618088 617613 616370 176500 117300 208513 1065 206700 613730 98934 606438 616212 972 160120 98809 616366 616187 605259 98772 607346 199343 79137 609446 306 614959 616728 85279 617822 2526 101010 614255 611302 617235 604187 2884 609541 319182 617284 615637 79155 2182 1497 304100 307000 301006 615960 280 614462 618103 79284 277380 98853 99027 169500 616540 618090 220111 614436 615838 167 214500 248500 600274 260540 172700 601104 611390 618273 228402 156200 6 578 300260 300055 312750 300673 617282 616789 613668 616449 228384 614399 97279 617086 99947 609260 610951 212066 67047 401768 617121 251100 617018 616688 609180 256810 251347 604391 617664 502423 617675 614947 618248 236250 614702 254343 200100 14 29 343 164280 33226 397744 614369 33445 79476 618198 182920 300855 617393 616034 609241 615419 610442 616239 614063 617186 551 605013 649 618249 618253 618240 618239 618226 618228 252010 618225 618229 617882 812 256550 85277 300912 637 101000 615273 600363 118700 610978 527497 617560 300495 256700 614937 300967 614153 125310 220497 609583 168600 611091 617830 613886 618242 271930 617082 617831 1229 251290 534 309000 2750 31 210000 125250 165500 67036 300486 617729 259720 311250 615009 79254 216873 607236 234200 606324 616353 266150 264070 608027 615919 494526 494541 616921 616922 228169 609161 213600 615483 615007 245349 610245 772 247815 614871 614867 614863 773 266500 215100 614808 615802 300653 615816 79351 617767 300868 616917 280633 614080 618143 615398 239300 64753 615217 605909 610623 199351 256600 610217 521426 617527 613722 98765 312080 617290 212065 640 162500 1170 213200 617954 616267 613402 613179 98908 610717 1180 2377 215470 1173 245800 612020 251950 79096 610090 726 70595 254886 254892 157640 258450 613662 607459 88637 616494 607694 614381 253280 616817 98762 604326 617711 256730 309500 324290 616640 603553 612437 412066 98763 600116 157941 282166 600072 603218 123400 239500 99014 301835 1187 300661 31709 98811 617481 139406 611721 610539 2615 65285 397 616263 261640 13 508488 617931 616158 616420 261630 617807 2510 607624 300271 311510 617751 613078 1713 182290 438114 617916 613115 244310 612015 618004 1401 300978 614922 329336 616479 610333 610329 612951 137634 420741 611943 212840 2636 1946 226750 618060 611560 608611 300998 100993 616732 614833 615705 617773 324581 270550 601068 2585 159550 612952 617709 46059 254900 607208 617350 613345 521411 466794 616719 3208 252011 601650 605373 168000 613811 618106 798 616831 602433 606002 615578 617575 614373 1935 616341 248800 616645 59 300523 604369 352649 618049 249270 617105 209967 612656 612949 238970 609304 616505 53583 601042 612126 608885 309854 613280 617595 171863 603585 617013 201100 229050 179800 97229 614707 211530 158580 616421 2116 613135 614618 52503 300352 617301 85278 139210 257200 616330 66631 127750 168601 605543 209850 105400 500150 163746 609136 313892 100985 616577 602099 616668 2822 604360 612716 98766 352403 615386 616437 617145 300643 609056 614261 617341 412057 615768 612164 1933 612073 245400 617757 272200 272300 616684 88644 615530 618218 53351 314250 300966 615599 616878 612069 28378 617695 79500 617207 616439 1727 610954 259700 275350 616654 94124 607250 404493 616949 616954 127550 604484 1328 101150 605407 300957 617698 304700 613990 268130 617044 617964 617562 617563 614465 608091 2752 614970 614424 610688 614052 617255 259710 98902 605355 614969 617730 868 615512 614458 284324 204500 609270 617731 618201 369840 369847 615356 617669 617862 2770 615490 617873 616539 225 545000 1349 616084 616410 617026 612389 612390 277470 225753 610505 168593 98767 615541 96 277460 105210 611603 615771 614039 612438 1186 609286 271245 616138 616811 617132 617672 615491 618076 617899 79234 616801 276880 401795 251282 182980 608627 615917 329478 613954 892 466934 616683 2388 200150 616840 607317 319199 614898 607596 616948 617710 615817 100989 329284 300894 83472 251300 610185 222300 616211 614322 278700 616413 617633 617665 617557 3454 314580 270700 615095 260565 617865 268700 425 758 264470 200950 607944 161800 606854 238329 65 447757 447760 613661 324422 353327 616227 205100 607225 606353 616681 85335 613744 261584 617164 90 617523 3157 401815 309510 300004 271900 496790 94122 601238 617584 182600 104290 314978 644 320360 618012 905 615268 98761 94147 67046 588 609195 617237 309800 618056 100998 270685 618221 320375 320370 259730 108500 183086 458803 307 211067 613855 488594 616907 253600 428 488650 394 423275 616053 615651 300114 1947 610003 617929 435934 617395 613612 98915 255241 156 444099 616282 272430 370980 308 617915 615075 250800 320411 615030 100986 270800 3464 101008 609340 320380 615033 610198 445062 616192 618292 263494 101003 270750 614228 614563 617561 101112 1955 614457 615957 610965 1143 611225 75857 616081 612319 610532 617046 617769 617166 98764 609307 300718 611228 34515 606612 607155 300048 88628 466688 230000 229300 245200 608013 320391 352641 614409 231670 607706 2345 1175 477 613206 616859 79443 79444 94089 617182 615501 363432 324262 204000 746 614504 617268 613926 617011 176270 324442 300438 233400 99940 100994 612233 605280 468661 615330 616451 615846 98771 617404 98769 606658 117360 37612 618284 612780 170390 435628 614098 439218 613720 263516 611726 300534 610357 615411 615282 496689 2466 2065 608840 617668 600373 459056 616680 314603 600 210200 210210 252650 617339 601152 616486 277410 497764 79312 289916 252150 252160 180800 611719 613672 250940 610377 171881 431361 618247 618233 618237 256030 616924 100988 276198 2591 117550 320396 613162 616896 137831 613435 617452 607432 618158 216866 251280 312170 608782 101108 614877 95433 401820 618298 2671 601815 617146 617770 254361 312920 618279 139480 614932 447896 264090 93947 605361 249500 614895 249900 137608 617258 614222 600118 401830 614225 88619 611523 101011 610250 401849 615625 608984 512260 204100 192 613077 612075 604805 404499 98 613721 617938 684 170500 614306 269150 357043 62 353 601596 606232 605726 206900 1496 607483 616657 158 618197 612539 234500 616291 300243 137580 253400 271150 253550 253300 275900 182601 35689 99013 607259 613477 160565 618093 610743 617389 284271 614229 615663 617193 496756 2896 320385 615031 431329 615658 618251 618098 2807 2596 458798 606071 608800 604432 609 615412 610678 478029 301830 617133 105830 210128 108600 329475 435387 224050 615851 603563 617616 401800 604317 411590 284282 617302 401840 610244 100924 615686 231160 608097 207800 974 615685 847 271640 300166 607595 616411 540000 900 398189 243700 274270 615683 614782 263570 79299 624 615750 616647 617296 303350 615191 616827 614305 300615 401835 596 607341 618230 162210 896 148820 300905 617370 301220 128200 602066 90307 610181 617053 609634 218000 616269 79124 616736 444463 424 99819 610031 617977 613159 615109 401805 401780 464440 521390 615108 158350 617982
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.