Human Phenotype Ontology 
Grandparent Node:
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Phenotypic abnormality (HP:0000118)help
Parent Node:
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Abnormality of the musculature (HP:0003011)help
..Starting node
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Abnormal muscle physiology (HP:0011804)help
Term ID: 11804
Name: Abnormal muscle physiology
Synonym: Abnormality of muscle physiology; Issue with muscle function
Definition: A functional abnormality of a skeletal muscle.
Comments:
Reference: HP:0011804
Genes and Diseases:
 
       Child Nodes:
........expandTetany (HP:0001281) help
........expandMuscle weakness (HP:0001324) help
................... HP:0000467 Neck muscle weakness
................... HP:0001283 Bulbar palsy
................... HP:0002421 Poor head control
................... HP:0002460 Distal muscle weakness
................... HP:0003323 Progressive muscle weakness
................... HP:0003324 Generalized muscle weakness
................... HP:0003325 Limb-girdle muscle weakness
................... HP:0003327 Axial muscle weakness
................... HP:0003473 Fatigable weakness
................... HP:0003690 Limb muscle weakness
................... HP:0003701 Proximal muscle weakness
................... HP:0003704 Scapuloperoneal weakness
................... HP:0004347 Weakness of muscles of respiration
................... HP:0004878 Intercostal muscle weakness
................... HP:0009023 Abdominal wall muscle weakness
................... HP:0009113 Diaphragmatic weakness
................... HP:0010547 Muscle flaccidity
................... HP:0010628 Facial palsy
................... HP:0012507 Weakness of orbicularis oculi muscle
................... HP:0031372 Cold paresis
................... HP:0031374 Ankle weakness
........expandMyotonia (HP:0002486) help
................... HP:0003730 EMG: myotonic runs
................... HP:0003740 Myotonia with warm-up phenomenon
................... HP:0010548 Percussion myotonia
................... HP:0011809 Paradoxical myotonia
................... HP:0012899 Handgrip myotonia
................... HP:0012900 Myotonia of the face
................... HP:0012901 Myotonia of the jaw
................... HP:0012902 Myotonia of the lower limb
................... HP:0012903 Myotonia of the upper limb
................... HP:0012904 Cold-sensitive myotonia
........expandMuscle cramps (HP:0003394) help
................... HP:0003449 Cold-induced muscle cramps
................... HP:0003710 Exercise-induced muscle cramps
........expandEMG abnormality (HP:0003457) help
................... HP:0003445 EMG: neuropathic changes
................... HP:0003458 EMG: myopathic abnormalities
................... HP:0003482 EMG: axonal abnormality
................... HP:0030000 EMG: repetitive nerve stimulation abnormality
................... HP:0030006 Single fiber EMG abnormality
................... HP:0100283 EMG: continuous motor unit activity at rest
................... HP:0100284 EMG: myotonic discharges
................... HP:0100285 EMG: impaired neuromuscular transmission
................... HP:0100287 EMG: slow motor conduction
................... HP:0100288 EMG: myokymic discharges
........expandMuscle stiffness (HP:0003552) help
................... HP:0006921 Axial muscle stiffness
................... HP:0007066 Proximal limb muscle stiffness
................... HP:0007156 Asymmetric limb muscle stiffness
................... HP:0008967 Exercise-induced muscle stiffness
................... HP:0008969 Leg muscle stiffness
........expandMuscle hyperirritability (HP:0003559) help
........expandIncreased muscle fatiguability (HP:0003750) help
................... HP:0009020 Exercise-induced muscle fatigue
........expandAbnormal muscle tone (HP:0003808) help
................... HP:0001252 Muscular hypotonia
................... HP:0001276 Hypertonia
................... HP:0011398 Central hypotonia
........expandFunctional motor deficit (HP:0004302) help
................... HP:0002355 Difficulty walking
................... HP:0002359 Frequent falls
................... HP:0003388 Easy fatigability
................... HP:0003546 Exercise intolerance
................... HP:0003551 Difficulty climbing stairs
................... HP:0003698 Difficulty standing
................... HP:0009046 Difficulty running

 Sister Nodes: 
..expandAbnormal axial muscle morphology (HP:0040286) help
..expandAbnormal hyoglossus muscle morphology (HP:3000051) help
..expandAbnormal lateral cricoarytenoid muscle morphology (HP:3000067) help
..expandAbnormal mitochondria in muscle tissue (HP:0008316) help
..expandAbnormal morphology of musculature of pharynx (HP:0430015) help
..expandAbnormal morphology of the abdominal musculature (HP:0010991) help
..expandAbnormal morphology of the chest musculature (HP:0410167) help
..expandAbnormal morphology of the musculature of the neck (HP:0011006) help
..expandAbnormal morphology of the pelvis musculature (HP:0001469) help
..expandAbnormal morphology of the shoulder musculature (HP:0410169) help
..expandAbnormal skeletal muscle morphology (HP:0011805) help
..expandAbnormality of facial musculature (HP:0000301) help
..expandAbnormality of musculature of soft palate (HP:0430014) help
..expandAbnormality of occipitofrontalis muscle (HP:0040172) help
..expandAbnormality of the back musculature (HP:0410168) help
..expandAbnormality of the diaphragm (HP:0000775) help
..expandAbnormality of the extraocular muscles (HP:0008049) help
..expandAbnormality of the musculature of the limbs (HP:0009127) help
..expandAbnormality of the musculature of the thorax (HP:0009131) help
..expandAbnormality of the tongue muscle (HP:0040173) help
..expandCalcification of muscles (HP:0100249) help
..expandGastroparesis (HP:0002578) help
..expandIncreased intramuscular fat (HP:0008985) help
..expandMuscle abnormality related to mitochondrial dysfunction (HP:0003800) help
..expandMuscle hemorrhage (HP:0040242) help
..expandNeoplasm of striated muscle (HP:0009728) help
..expandobsolete Abnormality of skeletal muscles (HP:0040290) 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:0011804HP:0011804Abnormal muscle physiology0 CL E G H
HP:0011804HP:0003559Muscle hyperirritability1 CL E G H
HP:0011804HP:0003457EMG abnormality1 CL E G H
HP:0011804HP:0003552Muscle stiffness1 CL E G H
HP:0011804HP:0003808Abnormal muscle tone1 CL E G H
HP:0011804HP:0003750Increased muscle fatiguability1 CL E G H
HP:0011804HP:0001324Muscle weakness1 CL E G H
HP:0011804HP:0002578Gastroparesis1 CL E G H
HP:0011804HP:0004302Functional motor deficit1 CL E G H
HP:0011804HP:0002486Myotonia1 CL E G H
HP:0011804HP:0003394Muscle spasm1 CL E G H
HP:0011804HP:0001281Tetany1 CL E G H
HP:0011804HP:0003800Muscle abnormality related to mitochondrial dysfunction1 CL E G H
HP:0011804HP:0001283Bulbar palsy2 CL E G H
HP:0011804HP:0030006Single fiber EMG abnormality2 CL E G H
HP:0011804HP:0010547Muscle flaccidity2 CL E G H
HP:0011804HP:0012507Weakness of orbicularis oculi muscle2 CL E G H
HP:0011804HP:0012900Myotonia of the face2 CL E G H
HP:0011804HP:0002460Distal muscle weakness2 CL E G H
HP:0011804HP:0033235Difficulty descending stairs2 CL E G H
HP:0011804HP:0002421Poor head control2 CL E G H
HP:0011804HP:0003710Exercise-induced muscle cramps2 CL E G H
HP:0011804HP:0003740Myotonia with warm-up phenomenon2 CL E G H
HP:0011804HP:0100283EMG: continuous motor unit activity at rest2 CL E G H
HP:0011804HP:0003473Fatigable weakness2 CL E G H
HP:0011804HP:0003388Easy fatigability2 CL E G H
HP:0011804HP:0100288EMG: myokymic discharges2 CL E G H
HP:0011804HP:0009020Exercise-induced muscle fatigue2 CL E G H
HP:0011804HP:0009023Abdominal wall muscle weakness2 CL E G H
HP:0011804HP:0003445EMG: neuropathic changes2 CL E G H
HP:0011804HP:0007156Asymmetric limb muscle stiffness2 CL E G H
HP:0011804HP:0003327Axial muscle weakness2 CL E G H
HP:0011804HP:0100287EMG: slow motor conduction2 CL E G H
HP:0011804HP:0004878Intercostal muscle weakness2 CL E G H
HP:0011804HP:0003548Subsarcolemmal accumulations of abnormally shaped mitochondria2 CL E G H
HP:0011804HP:0012899Handgrip myotonia2 CL E G H
HP:0011804HP:0003551Difficulty climbing stairs2 CL E G H
HP:0011804HP:0012903Myotonia of the upper limb2 CL E G H
HP:0011804HP:0002355Difficulty walking2 CL E G H
HP:0011804HP:0003701Proximal muscle weakness2 CL E G H
HP:0011804HP:0001252Hypotonia2 CL E G H
HP:0011804HP:0031989Perioral spasm2 CL E G H
HP:0011804HP:0004347Weakness of muscles of respiration2 CL E G H
HP:0011804HP:0003730EMG: myotonic runs2 CL E G H
HP:0011804HP:0009141Depletion of mitochondrial DNA in muscle tissue2 CL E G H
HP:0011804HP:0030000EMG: repetitive nerve stimulation abnormality2 CL E G H
HP:0011804HP:0003324Generalized muscle weakness2 CL E G H
HP:0011804HP:0012904Cold-sensitive myotonia2 CL E G H
HP:0011804HP:0003690Limb muscle weakness2 CL E G H
HP:0011804HP:0009113Diaphragmatic weakness2 CL E G H
HP:0011804HP:0000467Neck muscle weakness2 CL E G H
HP:0011804HP:0008969Leg muscle stiffness2 CL E G H
HP:0011804HP:0003449Cold-induced muscle cramps2 CL E G H
HP:0011804HP:0012902Myotonia of the lower limb2 CL E G H
HP:0011804HP:0003482EMG: axonal abnormality2 CL E G H
HP:0011804HP:0003698Difficulty standing2 CL E G H
HP:0011804HP:0011964Intermittent painful muscle spasms2 CL E G H
HP:0011804HP:0010548Percussion myotonia2 CL E G H
HP:0011804HP:0002359Frequent falls2 CL E G H
HP:0011804HP:0003704Scapuloperoneal weakness2 CL E G H
HP:0011804HP:0008967Exercise-induced muscle stiffness2 CL E G H
HP:0011804HP:0100284EMG: myotonic discharges2 CL E G H
HP:0011804HP:0010628Facial palsy2 CL E G H
HP:0011804HP:0003688Cytochrome C oxidase-negative muscle fibers2 CL E G H
HP:0011804HP:0031374Ankle weakness2 CL E G H
HP:0011804HP:0003737Mitochondrial myopathy2 CL E G H
HP:0011804HP:0031372Cold paresis2 CL E G H
HP:0011804HP:0012901Myotonia of the jaw2 CL E G H
HP:0011804HP:0033767Abnormal single motor unit action potential2 CL E G H
HP:0011804HP:0009046Difficulty running2 CL E G H
HP:0011804HP:0003323Progressive muscle weakness2 CL E G H
HP:0011804HP:0011809Paradoxical myotonia2 CL E G H
HP:0011804HP:0003325Limb-girdle muscle weakness2 CL E G H
HP:0011804HP:0100285EMG: impaired neuromuscular transmission2 CL E G H
HP:0011804HP:0003546Exercise intolerance2 CL E G H
HP:0011804HP:0006921Axial muscle stiffness2 CL E G H
HP:0011804HP:0007066Proximal limb muscle stiffness2 CL E G H
HP:0011804HP:0003458EMG: myopathic abnormalities2 CL E G H
HP:0011804HP:0001276Hypertonia2 CL E G H
HP:0011804HP:0003689Multiple mitochondrial DNA deletions3 CL E G H
HP:0011804HP:0002203Respiratory paralysis3 CL E G H
HP:0011804HP:0002509Limb hypertonia3 CL E G H
HP:0011804HP:0001319Neonatal hypotonia3 CL E G H
HP:0011804HP:0007340Lower limb muscle weakness3 CL E G H
HP:0011804HP:0003391Gowers sign3 CL E G H
HP:0011804HP:0012389Appendicular hypotonia3 CL E G H
HP:0011804HP:0003760Percussion-induced rapid rolling muscle contractions3 CL E G H
HP:0011804HP:0000297Facial hypotonia3 CL E G H
HP:0011804HP:0012497Reduced maximal expiratory pressure3 CL E G H
HP:0011804HP:0001349Facial diplegia3 CL E G H
HP:0011804HP:0008936Muscular hypotonia of the trunk3 CL E G H
HP:0011804HP:0002063Rigidity3 CL E G H
HP:0011804HP:0012799Unilateral facial palsy3 CL E G H
HP:0011804HP:0009027Foot dorsiflexor weakness3 CL E G H
HP:0011804HP:0006829Severe muscular hypotonia3 CL E G H
HP:0011804HP:0006597Diaphragmatic paralysis3 CL E G H
HP:0011804HP:0003722Neck flexor weakness3 CL E G H
HP:0011804HP:0009053Distal lower limb muscle weakness3 CL E G H
HP:0011804HP:0003435Cold-induced hand cramps3 CL E G H
HP:0011804HP:0003484Upper limb muscle weakness3 CL E G H
HP:0011804HP:0030007EMG: positive sharp waves3 CL E G H
HP:0011804HP:0009063Progressive distal muscle weakness3 CL E G H
HP:0011804HP:0003719Muscle mounding3 CL E G H
HP:0011804HP:0030206EMG: incremental response of compound muscle action potential to repetitive nerve stimulation3 CL E G H
HP:0011804HP:0430025Bilateral facial palsy3 CL E G H
HP:0011804HP:0031867Neck hypertonia3 CL E G H
HP:0011804HP:0004661Frontalis muscle weakness3 CL E G H
HP:0011804HP:0009069Lethal infantile mitochondrial myopathy3 CL E G H
HP:0011804HP:0030190Oral motor hypotonia3 CL E G H
HP:0011804HP:0003810Late-onset distal muscle weakness3 CL E G H
HP:0011804HP:0009073Progressive proximal muscle weakness3 CL E G H
HP:0011804HP:0003749Pelvic girdle muscle weakness3 CL E G H
HP:0011804HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation3 CL E G H
HP:0011804HP:0008997Proximal muscle weakness in upper limbs3 CL E G H
HP:0011804HP:0001290Generalized hypotonia3 CL E G H
HP:0011804HP:0008959Distal upper limb muscle weakness3 CL E G H
HP:0011804HP:0030197Fatigable weakness of skeletal muscles3 CL E G H
HP:0011804HP:0002747Respiratory insufficiency due to muscle weakness3 CL E G H
HP:0011804HP:0030205Increased jitter at single fiber EMG3 CL E G H
HP:0011804HP:0003752Episodic flaccid weakness3 CL E G H
HP:0011804HP:0002601Paresis of extensor muscles of the big toe3 CL E G H
HP:0011804HP:0008994Proximal muscle weakness in lower limbs3 CL E G H
HP:0011804HP:0003392First dorsal interossei muscle weakness3 CL E G H
HP:0011804HP:0001257Spasticity3 CL E G H
HP:0011804HP:0008991Exercise-induced leg cramps3 CL E G H
HP:0011804HP:0030192Fatigable weakness of bulbar muscles3 CL E G H
HP:0011804HP:0003694Late-onset proximal muscle weakness3 CL E G H
HP:0011804HP:0003547Shoulder girdle muscle weakness3 CL E G H
HP:0011804HP:0031139Frog-leg posture3 CL E G H
HP:0011804HP:0030196Fatigable weakness of respiratory muscles3 CL E G H
HP:0011804HP:0012496Reduced maximal inspiratory pressure3 CL E G H
HP:0011804HP:0008947Infantile muscular hypotonia3 CL E G H
HP:0011804HP:0030664Beevor's sign3 CL E G H
HP:0011804HP:0003444EMG: chronic denervation signs3 CL E G H
HP:0011804HP:0002396Cogwheel rigidity4 CL E G H
HP:0011804HP:0009053Distal lower limb muscle weakness4 CL E G H
HP:0011804HP:0002510Spastic tetraplegia4 CL E G H
HP:0011804HP:0031189Wrist drop4 CL E G H
HP:0011804HP:0012515Hip flexor weakness4 CL E G H
HP:0011804HP:0030195Fatigable weakness of swallowing muscles4 CL E G H
HP:0011804HP:0002179Opisthotonus4 CL E G H
HP:0011804HP:0031108Triceps weakness4 CL E G H
HP:0011804HP:0003397Generalized hypotonia due to defect at the neuromuscular junction4 CL E G H
HP:0011804HP:0030199Fatigable weakness of neck muscles4 CL E G H
HP:0011804HP:0001264Spastic diplegia4 CL E G H
HP:0011804HP:0007076Extrapyramidal muscular rigidity4 CL E G H
HP:0011804HP:0001285Spastic tetraparesis4 CL E G H
HP:0011804HP:0002061Lower limb spasticity4 CL E G H
HP:0011804HP:0008963Tibialis muscle weakness4 CL E G H
HP:0011804HP:0033416Hip adductor weakness4 CL E G H
HP:0011804HP:0030194Fatigable weakness of speech muscles4 CL E G H
HP:0011804HP:0008997Proximal muscle weakness in upper limbs4 CL E G H
HP:0011804HP:0006852Episodic generalized hypotonia4 CL E G H
HP:0011804HP:0030198Fatigable weakness of distal limb muscles4 CL E G H
HP:0011804HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness4 CL E G H
HP:0011804HP:0002064Spastic gait4 CL E G H
HP:0011804HP:0011444Decorticate rigidity4 CL E G H
HP:0011804HP:0011099Spastic hemiparesis4 CL E G H
HP:0011804HP:0003731Quadriceps muscle weakness4 CL E G H
HP:0011804HP:0031866Clasp-knife sign4 CL E G H
HP:0011804HP:0006986Upper limb spasticity4 CL E G H
HP:0011804HP:0030193Fatigable weakness of chewing muscles4 CL E G H
HP:0011804HP:0200049Upper limb hypertonia4 CL E G H
HP:0011804HP:0009062Infantile axial hypotonia4 CL E G H
HP:0011804HP:0007188Congenital facial diplegia4 CL E G H
HP:0011804HP:0002464Spastic dysarthria4 CL E G H
HP:0011804HP:0006895Lower limb hypertonia4 CL E G H
HP:0011804HP:0008935Generalized neonatal hypotonia4 CL E G H
HP:0011804HP:0025013Decerebrate rigidity4 CL E G H
HP:0011804HP:0011727Peroneal muscle weakness4 CL E G H
HP:0011804HP:0002501Spasticity of pharyngeal muscles4 CL E G H
HP:0011804HP:0002491Spasticity of facial muscles4 CL E G H
HP:0011804HP:0002191Progressive spasticity4 CL E G H
HP:0011804HP:0030200Fatiguable weakness of proximal limb muscles4 CL E G H
HP:0011804HP:0031958Spastic paraparetic gait5 CL E G H
HP:0011804HP:0007158Progressive extrapyramidal muscular rigidity5 CL E G H
HP:0011804HP:0002313Spastic paraparesis5 CL E G H
HP:0011804HP:0008963Tibialis muscle weakness5 CL E G H
HP:0011804HP:0031957Spastic hemiparetic gait5 CL E G H
HP:0011804HP:0011727Peroneal muscle weakness5 CL E G H
HP:0011804HP:0001258Spastic paraplegia5 CL E G H
HP:0011804HP:0002478Progressive spastic quadriplegia5 CL E G H
HP:0011804HP:0031108Triceps weakness5 CL E G H
HP:0011804HP:0007020Progressive spastic paraplegia6 CL E G H
HP:0011804HP:0006983Slowly progressive spastic quadriparesis6 CL E G H
HP:0011804HP:0012407Scissor gait6 CL E G H
HP:0011804HP:0007199Progressive spastic paraparesis6 CL E G H


Genes (1857) :A2ML1 AAAS AARS AARS2 AASS ABAT ABCA1 ABCA12 ABCA7 ABCB6 ABCB7 ABCC8 ABCC9 ABCD1 ABCD4 ABHD12 ABHD5 ACACA ACAD8 ACAD9 ACADL ACADM ACADS ACADSB ACADVL ACAT2 ACD ACER3 ACO2 ACOX1 ACP2 ACP5 ACSL4 ACTA1 ACTB ACTC1 ACTN2 ACY1 ADA2 ADAM22 ADAMTS2 ADAR ADAT3 ADCY5 ADCY6 ADD3 ADGRG1 ADK ADNP ADPRHL2 ADSL ADSSL1 AFG3L2 AGA AGK AGL AGPAT2 AGRN AGTPBP1 AHCY AHDC1 AHI1 AHSG AIFM1 AIMP1 AIP AIPL1 AK9 ALAS2 ALDH18A1 ALDH3A2 ALDH5A1 ALDH6A1 ALDH7A1 ALG1 ALG11 ALG12 ALG13 ALG14 ALG2 ALG3 ALG6 ALG8 ALG9 ALPL ALS2 AMACR AMER1 AMMECR1 AMPD1 AMPD2 AMPD3 AMT ANG ANK3 ANKH ANKLE2 ANKRD1 ANO10 ANO5 ANOS1 ANTXR2 ANXA11 AP1S1 AP1S2 AP2S1 AP3B2 AP3D1 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APC APC2 APOA1 APP APTX AR ARF1 ARFGEF2 ARG1 ARHGAP31 ARHGEF2 ARHGEF9 ARID1A ARID1B ARID2 ARL13B ARL3 ARL6IP1 ARMC5 ARMC9 ARNT2 ARSA ARSI ARV1 ARVCF ARX ASAH1 ASCC1 ASCL1 ASNS ASPA ASXL1 ASXL2 ATAD1 ATAD3A ATCAY ATIC ATL1 ATM ATP13A2 ATP1A1 ATP1A3 ATP2A1 ATP2B3 ATP5F1A ATP5F1D ATP6 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATP7B ATP8 ATP8A2 ATPAF2 ATRX ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8 ATXN8OS AUH AUTS2 B3GALNT2 B3GALT6 B3GAT3 B4GALNT1 B4GALT1 B4GALT7 B4GAT1 B9D1 BAG3 BAZ1B BCKDHA BCKDHB BCL11B BCOR BCS1L BDNF BEAN1 BICD2 BIN1 BMP1 BMP2 BMP4 BMPER BMS1 BOLA3 BPTF BRAF BRAT1 BRPF1 BRWD3 BSCL2 BSND BTD BTNL2 BUB1 BUB1B BUB3 BVES C11ORF95 C12ORF4 C12ORF57 C12ORF65 C19ORF12 C1QBP C9ORF72 CA8 CACNA1A CACNA1C CACNA1D CACNA1E CACNA1G CACNA1S CAD CAMK2A CAMKMT CAMTA1 CANT1 CAPN1 CAPN3 CARS2 CASK CASQ1 CASR CAV1 CAV3 CAVIN1 CBL CC2D2A CCDC115 CCDC141 CCDC174 CCDC22 CCDC47 CCDC78 CCDC88A CCDC88C CCN2 CCN6 CCND1 CCNF CCR6 CCT5 CD59 CD96 CDC42 CDC73 CDH23 CDK13 CDKL5 CDKN1C CDON CEP104 CEP120 CEP126 CEP290 CEP41 CEP57 CFAP410 CFL2 CHAMP1 CHAT CHCHD10 CHD1 CHD4 CHD7 CHKB CHMP1A CHMP2B CHRNA1 CHRNA7 CHRNB1 CHRND CHRNE CHST14 CHST3 CIT CIZ1 CKAP2L CLCF1 CLCN1 CLCN4 CLCN7 CLCNKA CLCNKB CLDN16 CLIC2 CLIP2 CLP1 CLPB CLTC CNBP CNKSR2 CNNM2 CNPY3 CNTN1 CNTNAP1 CNTNAP2 COA6 COA7 COA8 COASY COG1 COG2 COG4 COG5 COG6 COG7 COG8 COL11A2 COL12A1 COL13A1 COL1A1 COL1A2 COL2A1 COL4A1 COL4A2 COL4A3BP COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL9A3 COLQ COMT COPB2 COQ2 COQ4 COQ7 COQ8A COQ9 COX1 COX10 COX14 COX15 COX2 COX20 COX3 COX6A1 COX6B1 COX7B COX8A CP CPLANE1 CPLX1 CPOX CPS1 CPT1A CPT1C CPT2 CRB1 CREBBP CRLF1 CRPPA CRX CRYAB CSF1R CSNK2A1 CSPP1 CSRP3 CTBP1 CTC1 CTCF CTNNA2 CTNNB1 CTNND2 CTNS CTSD CTU2 CUL4B CWF19L1 CYB5R3 CYFIP2 CYP11B1 CYP11B2 CYP24A1 CYP27A1 CYP27B1 CYP2R1 CYP2U1 CYP7B1 CYTB D2HGDH DAB1 DAG1 DAO DARS DARS2 DBT DCAF8 DCC DCHS1 DCPS DCTN1 DCX DDB2 DDC DDHD1 DDHD2 DDOST DDR2 DDX11 DDX3X DEAF1 DENND5A DES DGCR2 DGCR6 DGCR8 DGUOK DHCR24 DHCR7 DHDDS DHFR DHH DHTKD1 DIAPH1 DIS3L2 DISP1 DKC1 DKK1 DLAT DLD DLG3 DLL1 DLL4 DMD DMGDH DMPK DNA2 DNAJB2 DNAJB6 DNAJC12 DNAJC13 DNAJC19 DNAJC21 DNAJC6 DNAL4 DNM1 DNM1L DNM2 DNMT1 DNMT3A DOCK6 DOK7 DOLK DPAGT1 DPF2 DPM1 DPM2 DPM3 DPYD DSE DSG2 DST DSTYK DUOX2 DUOXA2 DUSP6 DUX4 DYNC1H1 DYRK1A DYSF EARS2 EBF3 EBP ECHS1 EDN1 EDN3 EDNRB EED EEF1A2 EFEMP2 EFL1 EFNB1 EGF EGR2 EHMT1 EIF2AK3 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S3 EIF4G1 ELAC2 ELN ELOVL4 ELOVL5 ELP1 ELP2 EMC1 EMD EML1 ENO3 ENTPD1 EOGT EP300 EPCAM EPG5 EPHA4 EPRS ERBB4 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC6L2 ERCC8 ERF ERLIN1 ERLIN2 ERMARD ESS2 ETFA ETFB ETFDH ETHE1 EXOSC3 EXOSC8 EXOSC9 EXT1 EXT2 EXTL3 EYA1 EZH2 FA2H FAM111B FAM126A FAN1 FAR1 FARS2 FARSB FASTKD2 FAT4 FBLN5 FBN1 FBP1 FBXL4 FBXO38 FBXO7 FDX2 FEZF1 FGD4 FGF12 FGF14 FGF17 FGF23 FGF8 FGFR1 FGFR3 FGFRL1 FH FHL1 FHL2 FIG4 FKBP14 FKRP FKTN FLAD1 FLCN FLI1 FLII FLNA FLNC FLRT1 FLRT3 FLVCR1 FMN2 FMR1 FOS FOXC2 FOXE1 FOXG1 FOXH1 FOXP1 FOXRED1 FRA16E FRG1 FRMD4A FRMPD4 FRRS1L FTL FTO FUCA1 FUS FXN FXYD2 GAA GABBR2 GABRA1 GABRA3 GABRB1 GABRB2 GABRB3 GABRD GABRG2 GAD1 GALC GALE GAMT GAN GARS GAS1 GATA1 GATA6 GATAD1 GATAD2B GATM GBA GBA2 GBE1 GCDH GCH1 GCK GCM2 GCSH GDAP1 GDF6 GDI1 GDNF GEMIN4 GFAP GFER GFM1 GFPT1 GIGYF2 GJA1 GJB1 GJC2 GLA GLB1 GLDC GLE1 GLI2 GLRA1 GLRB GLRX5 GLUL GLYCTK GM2A GMPPA GMPPB GNA11 GNAI3 GNAO1 GNAS GNB1 GNB5 GNE GNPAT GNPTAB GORAB GOSR2 GP1BB GPAA1 GPC3 GPC4 GPHN GPI GPT2 GPX4 GRIA3 GRIA4 GRID2 GRIN1 GRIN2B GRIN2D GRM1 GSN GSS GTF2I GTF2IRD1 GTPBP2 GTPBP3 GUCY2D GUF1 GUSB GYG1 GYS1 HACD1 HACE1 HADH HADHA HADHB HAMP HARS HBA1 HBA2 HBB HCCS HCFC1 HCN1 HDAC4 HDAC8 HECW2 HEPACAM HERC1 HERC2 HESX1 HEXA HEXB HIBCH HIKESHI HINT1 HIRA HIST1H1E HIVEP2 HJV HK1 HLA-B HLA-DRB1 HLCS HMBS HMGA2 HMGCL HNF1A HNF4A HNRNPA1 HNRNPA2B1 HNRNPDL HNRNPH2 HNRNPK HNRNPU HOXB1 HPCA HPD HPRT1 HRAS HS6ST1 HSD17B10 HSD17B4 HSPB1 HSPB3 HSPB8 HSPD1 HSPG2 HTRA1 HTRA2 HTT HUWE1 HYLS1 HYMAI IARS IBA57 IDH2 IDUA IER3IP1 IFIH1 IFRD1 IFT140 IFT81 IGF2 IGHMBP2 IKBKG IL12B IL17RD IMPDH1 INF2 INPP5E INPP5K INPPL1 INS IPW IQCB1 IQSEC2 IRF2BPL IRF5 ISCA1 ISCA2 ISCU ITGA3 ITGA7 ITGB6 ITM2B ITPA ITPR1 IYD JAM3 JMJD1C JPH1 JPH3 KANK1 KANSL1 KARS KAT6A KAT6B KATNB1 KBTBD13 KCNA1 KCNA2 KCNA4 KCNAB2 KCNB1 KCNC3 KCND3 KCNE3 KCNE5 KCNH1 KCNJ1 KCNJ10 KCNJ11 KCNJ13 KCNJ18 KCNJ5 KCNJ6 KCNK9 KCNMA1 KCNQ2 KCNQ3 KCNT1 KDM1A KDM5C KDM6A KIAA0556 KIAA0586 KIAA0753 KIAA1109 KIDINS220 KIF11 KIF1A KIF1B KIF1BP KIF1C KIF22 KIF2A KIF5A KIF5C KIF7 KISS1R KIT KLC2 KLF13 KLHL40 KLHL41 KLHL9 KMT2A KMT2B KMT2D KPTN KRAS KRT14 KRT5 KY KYNU L1CAM L2HGDH LAGE3 LAMA1 LAMA2 LAMA4 LAMB1 LAMB2 LAMP2 LARGE1 LARS LAS1L LBR LCA5 LDB3 LDHA LEMD3 LETM1 LGI4 LHX3 LHX4 LIAS LIFR LIMK1 LIMS2 LINGO1 LINS1 LIPE LIPT1 LIPT2 LITAF LMBR1 LMBRD1 LMNA LMNB1 LMOD3 LNPK LONP1 LPIN1 LRAT LRP4 LRP5 LRPPRC LRRK2 LRSAM1 LTBP4 LTC4S LYRM4 LYRM7 LYST LZTR1 MAFB MAG MAGEL2 MAN2B1 MANBA MAP2K1 MAP2K2 MAP3K20 MAPRE2 MAPT MARS MARS2 MATR3 MBD5 MBOAT7 MBTPS2 MCCC1 MCCC2 MCM3AP MCOLN1 MDH2 MECP2 MECR MED12 MED13L MED17 MED25 MEF2C MEGF10 MEN1 MFF MFN2 MFSD2A MGAT2 MGME1 MICOS13 MICU1 MIPEP MITF MKRN3 MKRN3-AS1 MKS1 MLC1 MLH1 MLH3 MLX MLXIPL MLYCD MMAA MMAB MMACHC MMADHC MME MMUT MOCS1 MOCS2 MOGS MORC2 MPC1 MPDU1 MPI MPLKIP MPV17 MPZ MRE11 MRPS16 MRPS22 MRPS34 MSH2 MSH6 MSTO1 MTAP MTFMT MTHFR MTM1 MTMR14 MTMR2 MTO1 MTOR MTPAP MTR MTRR MTTP MUSK MVK MYBPC3 MYF6 MYH14 MYH2 MYH3 MYH6 MYH7 MYL2 MYMK MYO18B MYO1H MYO5A MYO9A MYOT MYPN NAA10 NACC1 NADK2 NAGA NALCN NANS NARS2 NAT8L NAXE NBAS NBN ND1 ND4 ND5 ND6 NDE1 NDN NDP NDRG1 NDST1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA9 NDUFAF2 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB11 NDUFB3 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NEBL NECAP1 NEDD4L NEFH NEFL NEK1 NELFA NEU1 NEXMIF NEXN NF1 NF2 NFIA NFIX NFU1 NGLY1 NHLRC2 NIPA1 NIPBL NKX2-1 NKX2-5 NKX6-2 NMNAT1 NOD2 NODAL NOL3 NONO NOP56 NOTCH1 NOTCH3 NPAP1 NPC1 NPC2 NPHP1 NPHP3 NR4A2 NRAS NRXN1 NSD1 NSD2 NSDHL NSMCE3 NSMF NSUN2 NT5C2 NTN1 NTNG1 NTRK2 NUBPL NUP107 NUP62 NUS1 OAT OCLN OCRL OFD1 OGDH OPA1 OPA3 OPHN1 OPTN ORAI1 OSGEP OSTM1 OTUD6B OTX2 P4HB PABPN1 PACS1 PAFAH1B1 PAH PAM16 PANK2 PARK7 PARN PAX1 PAX3 PAX6 PAX8 PC PCBD1 PCCA PCCB PCDH12 PCDH19 PCLO PCNA PCYT1A PDE10A PDE11A PDE6D PDE8B PDGFB PDGFRB PDHA1 PDHB PDHX PDP1 PDSS2 PDX1 PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PFKM PFN1 PGAM2 PGAP1 PGAP2 PGAP3 PGK1 PGM1 PGM3 PHACTR1 PHF6 PHGDH PHKA1 PHKB PHKG2 PHOX2B PHYH PIBF1 PIEZO2 PIGA PIGG PIGH PIGL PIGN PIGO PIGP PIGS PIGT PIGV PIGY PIK3CA PIK3R2 PIK3R5 PINK1 PITX3 PLA2G6 PLAA PLAGL1 PLCB1 PLCB4 PLEC PLEKHG2 PLEKHG5 PLK4 PLN PLOD1 PLP1 PLPBP PLXND1 PMM2 PMP2 PMP22 PMPCA PMPCB PMS1 PMS2 PNKD PNKP PNP PNPLA2 PNPLA6 PNPLA8 PNPO PNPT1 POC1A PODXL POGLUT1 POGZ POLG POLG2 POLR1C POLR3A POLR3B POMGNT1 POMGNT2 POMK POMT1 POMT2 PON1 PON2 PON3 POU1F1 PPA2 PPARG PPARGC1A PPCS PPM1B PPM1D PPOX PPP1CB PPP1R15B PPP2R1A PPP2R5D PPP3CA PPT1 PQBP1 PRDM16 PRDM5 PRDM8 PRDX1 PREPL PRF1 PRKACA PRKAR1A PRKAR1B PRKCG PRKD1 PRKN PRMT7 PRNP PRODH PROK2 PROKR2 PROP1 PRPH PRPS1 PRRT2 PRUNE1 PRX PSAP PSAT1 PSEN1 PSEN2 PSMB8 PSMD12 PSPH PTCH1 PTDSS1 PTEN PTH PTPN11 PTPN22 PTRH2 PTS PUF60 PUM1 PURA PUS1 PUS3 PWAR1 PWRN1 PYCR1 PYCR2 PYGM PYROXD1 QARS QDPR RAB11B RAB18 RAB27A RAB39B RAB3GAP1 RAB3GAP2 RAB7A RAC1 RAD21 RAD50 RAD51 RAF1 RAI1 RANBP2 RAP1A RAP1B RAPSN RARB RARS RARS2 RASA2 RB1 RBCK1 RBM10 RBM20 RBPJ RD3 RDH12 REEP1 REEP2 RELA RELN REPS1 RERE RET RETREG1 REV3L RFC2 RFT1 RHOBTB2 RIN2 RIT1 RLIM RMND1 RMRP RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF125 RNF216 RNR1 RNU12 RNU4ATAC ROGDI RPE65 RPGRIP1 RPGRIP1L RPIA RPL10 RPS23 RPS6KA3 RRAS RREB1 RRM2B RSPH4A RSPH9 RSPRY1 RTEL1 RTN2 RTTN RUSC2 RXYLT1 RYR1 SACS SALL4 SAMHD1 SAR1B SARS2 SATB2 SBDS SBF1 SBF2 SC5D SCN11A SCN1A SCN1B SCN2A SCN3A SCN4A SCN5A SCN8A SCN9A SCNN1A SCNN1B SCNN1G SCO1 SCO2 SCYL1 SDHA SDHAF1 SDHB SDHD SEC24C SEC24D SELENON SEMA3A SEMA3E SEMA5A SEPSECS SEPTIN9 SERAC1 SERPINA6 SERPINH1 SET SETBP1 SETD2 SETD5 SETX SFRP4 SFXN4 SGCA SGCB SGCD SGCE SGCG SGPL1 SH2B1 SH3TC2 SHANK3 SHH SHOC2 SIGMAR1 SIK1 SIL1 SIM1 SIN3A SIX1 SIX3 SIX5 SIX6 SKI SLC12A1 SLC12A3 SLC12A6 SLC13A5 SLC16A1 SLC16A2 SLC17A5 SLC18A2 SLC18A3 SLC19A3 SLC1A2 SLC1A3 SLC1A4 SLC20A2 SLC22A5 SLC25A1 SLC25A12 SLC25A15 SLC25A19 SLC25A20 SLC25A22 SLC25A24 SLC25A26 SLC25A3 SLC25A32 SLC25A4 SLC25A46 SLC26A2 SLC26A4 SLC2A1 SLC2A10 SLC2A3 SLC30A10 SLC30A9 SLC33A1 SLC34A1 SLC34A3 SLC35A2 SLC35A3 SLC35C1 SLC39A14 SLC39A8 SLC3A1 SLC45A1 SLC46A1 SLC4A1 SLC52A2 SLC52A3 SLC5A5 SLC5A7 SLC6A19 SLC6A3 SLC6A5 SLC6A8 SLC6A9 SLC7A7 SLC9A6 SMAD4 SMARCA4 SMARCB1 SMARCE1 SMC1A SMC3 SMCHD1 SMG9 SMN1 SMPD1 SMS SNAI2 SNAP25 SNAP29 SNCA SNCAIP SNIP1 SNORD115-1 SNORD116-1 SNORD118 SNRPN SNX10 SNX14 SOD1 SON SORL1 SOS1 SOS2 SOST SOX10 SOX11 SOX2 SOX5 SOX9 SPARC SPART SPAST SPATA5 SPATA7 SPECC1L SPEG SPG11 SPG21 SPG7 SPR SPRED1 SPRY4 SPTAN1 SPTBN2 SPTBN4 SPTLC1 SPTLC2 SQSTM1 SRD5A3 SRP54 SSR4 ST3GAL3 ST3GAL5 STAC3 STAMBP STAT3 STIM1 STN1 STRA6 STRADA STT3A STT3B STUB1 STX11 STX16 STXBP1 SUCLA2 SUCLG1 SUFU SUMF1 SUOX SURF1 SUZ12 SYNE1 SYNE2 SYNGAP1 SYNJ1 SYT2 SZT2 TACO1 TACR3 TAF1 TAF15 TAF1A TAF2 TAF6 TANGO2 TARDBP TARS2 TAZ TBC1D20 TBC1D23 TBC1D24 TBCD TBCE TBCK TBK1 TBL1XR1 TBL2 TBP TBR1 TBX1 TBX4 TCAP TCF4 TCIRG1 TCN2 TCTN1 TCTN2 TCTN3 TDGF1 TDP1 TDP2 TECPR2 TELO2 TERT TFG TG TGFB1 TGFB3 TGFBR2 TGIF1 TGM6 TH THOC2 THRA THRB TIA1 TIMM50 TIMM8A TINF2 TK2 TKT TMCO1 TMEM106B TMEM126B TMEM138 TMEM165 TMEM199 TMEM216 TMEM231 TMEM237 TMEM240 TMEM43 TMEM67 TMEM70 TMPO TMTC3 TNFRSF11A TNFRSF11B TNFRSF1A TNNC1 TNNI3 TNNT1 TNNT2 TNPO3 TNXB TOE1 TOMM40 TOP3A TOR1A TOR1AIP1 TP53 TP53RK TPI1 TPK1 TPM1 TPM2 TPM3 TPO TPP1 TPRKB TRAF7 TRAK1 TRAPPC11 TRAPPC12 TRAPPC9 TRDN TREM2 TREX1 TRH TRHR TRIM2 TRIM32 TRIM37 TRIP13 TRIP4 TRIT1 TRMT1 TRMT10C TRMT5 TRMU TRNC TRNE TRNF TRNH TRNI TRNK TRNL1 TRNL2 TRNN TRNP TRNQ TRNS1 TRNS2 TRNT TRNT1 TRNV TRNW TRPM6 TRPS1 TRPV4 TSEN15 TSEN2 TSEN54 TSFM TSHB TSHR TTBK2 TTC19 TTN TTPA TTR TUBA1A TUBA8 TUBB TUBB2A TUBB2B TUBB3 TUBB4A TUBG1 TUBGCP4 TUBGCP6 TUFM TULP1 TWNK TXN2 TXNRD2 TYMP TYROBP UBA1 UBA5 UBE3A UBE3B UBQLN2 UBR1 UBTF UCHL1 UFC1 UFD1 UFM1 UGT1A1 UNC13A UNC80 UPB1 UPF3B UQCC2 UQCC3 UQCRQ USP18 USP8 USP9X VAC14 VAMP1 VAPB VARS2 VCL VCP VDR VIPAS39 VLDLR VMA21 VPS11 VPS13A VPS13B VPS13C VPS13D VPS33B VPS35 VPS37A VPS53 VRK1 VWA3B WAC WARS2 WASHC4 WASHC5 WDR11 WDR26 WDR4 WDR45 WDR45B WDR48 WDR62 WDR73 WDR81 WHCR WNK1 WWOX XK XPA XPC XYLT1 XYLT2 YARS YARS2 YME1L1 YWHAE YWHAG ZBTB18 ZBTB20 ZC4H2 ZDHHC15 ZDHHC9 ZEB2 ZFP57 ZFR ZFYVE26 ZFYVE27 ZIC1 ZIC2 ZNF148 ZNF335 ZNF423 ZNF469 ZNF592 ZNHIT3 ZSWIM6

Diseases (2349) :648 231550 425 609153 79134 606176 154 275630 611126 99900 201475 171439 609924 820 51 2680 618170 614487 212350 232400 528 310490 75563 447753 447760 353327 247604 607225 300605 45 615511 803 284289 399096 478 600740 208920 99429 313200 189427 309256 309263 309271 567 3175 2590 616867 3197 314632 618036 1171 601338 601003 618120 644 198 565 480 98756 276238 276241 276244 109150 94147 588 899 101006 124000 79241 615035 289560 615043 105550 108500 423 681 79102 300749 2593 616231 428 601198 220393 123320 606072 613327 614807 423275 208230 143 99880 65684 610687 615048 616314 608931 614 160800 255700 248250 606 602668 613882 610 616471 287 73229 611773 616733 139485 550 2556 444099 228302 255110 370980 616052 399058 403 909 600081 600721 611105 329314 35107 2394 98895 300376 243343 605850 273 160900 352470 615156 411602 66634 610198 254300 612937 269 1764 98863 133540 216400 231680 616081 321 615704 2833 184900 615575 251900 89937 2396 606612 607155 253800 272 614065 88628 93256 33001 95713 95 206583 232500 79299 146200 610542 2710 301500 363623 615350 615361 79443 79444 94089 613470 613507 746 79230 231214 268800 324442 137200 3287 176000 606595 800 255800 182250 98771 559 255125 613204 98934 457193 609273 972 37612 241200 251274 2526 615731 496689 1497 618138 258 612933 601559 616827 98853 98855 157973 616516 268200 616304 615838 2774 617760 600 778 99947 616688 101082 617675 236250 596 193700 437572 33445 618198 98911 609200 79279 647 551 649 812 256550 601321 605711 95712 614153 258870 67036 613435 216866 189439 614920 614885 616716 232800 371 614808 614921 2671 300559 261750 447 615217 99015 212065 162500 251950 70595 254886 254892 157640 603041 607459 610131 253280 79473 616224 412066 282166 99014 249900 2615 256040 397 2598 232600 615625 616479 2636 192 613077 100993 597 615548 682 684 99734 99735 99736 170500 168300 608390 526 252011 162100 2901 611489 265900 614373 601678 263800 212140 618197 613710 159 212138 612289 616794 615418 616505 71277 612539 613388 157215 241530 179800 614618 222700 2588 99966 253400 253550 257200 616330 105400 500150 616507 100985 70594 370938 255995 160565 185070 616878 617193 241410 244460 188400 259700 275350 604484 131300 617698 618250 614727 614052 239000 142680 617072 1501 369840 615356 275120 615490 1878 616866 616539 254864 225 545000 1349 663 602014 610505 615157 96 105210 271245 478029 615491 608627 329478 613954 310440 2388 607596 617710 100989 300842 605822 869 442835 613287 614096 238700 31150 1020 2802 99885 99886 300100 98907 611283 99901 201450 201470 610006 3322 2971 264470 200950 86818 2020 97240 97244 171430 171433 171436 255310 616852 161800 243310 137754 182410 1901 225154 324588 606854 617030 313772 610246 208400 98913 98914 615120 88618 220493 475 608629 2850 101078 238329 2965 65 447757 219150 816 22 271980 3006 266100 608540 79324 324422 616227 616228 79321 601110 79320 79328 241500 2780 300373 605899 611895 1522 123000 206549 611307 613319 2176 85335 280763 821 481 100300 974 617523 300607 1465 135900 612291 401780 615685 250100 401815 617020 452 308350 300215 159950 99803 314911 271900 605039 618011 601238 608688 100984 306674 513436 314978 302500 320360 551500 219200 278250 300489 309400 905 1766 604273 847 164400 183090 615834 75496 271640 245600 609195 79332 607091 130070 612954 904 248600 256000 661 363454 615290 169186 169189 255200 261295 607932 1114 614299 115150 1340 618056 614498 300659 100998 600794 602522 253260 797 1052 616812 251636 618221 320370 614298 617713 275872 617106 369929 618087 163693 251450 267 253600 618129 417 239200 488650 614321 2318 216360 1454 7 29073 612300 211750 1308 91347 300672 85173 280200 610188 254210 457050 615911 616209 138 214800 602541 608930 601462 199318 612001 616313 616321 616322 616323 605809 616324 420492 3255 610313 1545 53 166600 611490 613090 607364 411493 34527 616501 220110 436271 397725 611209 613489 613612 79333 611182 75840 616470 616720 1899 130060 183900 158810 254090 255600 600969 98915 603034 98933 227510 607426 612016 614654 540000 255241 48818 277170 147 156 255120 616282 228308 180849 272430 352479 608810 281 453521 250800 213700 264700 615945 613818 616538 610100 238722 607641 2148 609340 819 601419 181400 192430 251880 617070 818 270400 613839 168563 615025 2849 98896 310200 34516 603511 617384 391411 616346 606482 160150 610768 86309 608093 614750 79322 608799 274270 615539 95716 614228 614563 158600 178400 253601 254130 606768 617330 300960 277580 1520 304110 607678 605253 145900 96147 1667 226980 603896 85282 300148 194050 423296 223900 617270 612932 144 1493 242840 1466 610758 214150 3267 401785 615681 209951 602473 614678 618065 502 52429 2792 113650 107 277590 171629 612319 613658 608895 2462 284979 229700 98764 193100 1860 93274 15 187600 606812 300696 300718 300717 300695 300280 611228 300179 614557 34515 236670 611615 611588 255100 609524 320406 609033 908 261483 261144 158900 612938 349 154020 232300 33069 617829 1606 245200 230350 612736 643 256850 190685 2072 85212 320391 25 231670 99944 607831 607706 608340 214400 617913 218400 1175 302800 320401 608804 149400 614619 272750 615351 615352 617493 602 605820 222765 2078 614018 373 312870 615501 477673 300699 363432 617162 324262 617691 105120 617988 584 263297 616199 611556 464282 616756 609016 609015 98791 1001 199 226307 272800 88639 617537 605285 79242 253270 94063 52430 615424 300986 238769 614744 99657 2118 300322 2612 300438 608634 613376 608673 158590 612233 617248 85328 468661 613657 93473 616155 604320 464 614455 213300 2746 258480 614748 176500 1065 612900 3047 606170 98768 605259 98772 611816 135500 612780 612292 306 439218 1949 2322 147920 300867 101010 201300 118210 66629 397946 611302 93360 603546 2884 615348 399081 319182 3339 79399 617114 79155 236800 79314 2065 607855 609049 34587 300257 608840 309585 609452 280 617468 3206 615980 601098 2378 79284 277380 264 90153 181350 605588 613205 616165 1458 600373 3152 614305 2790 178377 3416 259770 220111 614436 614037 352723 248500 615279 638 615280 606070 228402 617188 2273 210200 6 210210 578 252650 617339 776 605589 228384 614399 97279 617087 609260 601152 212066 352447 615084 401768 615673 617228 248360 251100 251110 277400 277410 79312 289916 251000 606056 79323 609180 602579 256810 607791 607677 607736 118200 618184 180800 251347 604391 611719 502423 112250 310400 601382 254343 2169 236270 14 616325 29 610377 397744 614369 605637 59135 324604 160500 255160 608358 181430 1358 254940 79476 214450 266 182920 171881 617336 276432 300855 617393 609242 609241 610442 616239 614800 614019 601455 618243 618249 252010 618222 399103 256030 615833 616924 607684 607734 617882 637 602535 122470 610978 527497 90340 614937 276198 2789 257220 607625 220497 267010 618242 300209 203740 31 165500 137831 300486 612782 615883 2050 164300 217385 79254 216873 95720 218700 266150 264070 608027 615919 494526 616921 312170 608782 772 3220 44 214100 266510 614867 214110 95433 773 266500 261670 401820 300653 618298 127 301900 613027 2461 617146 248700 280000 280633 617599 239300 60040 602501 610623 35069 256600 610217 521426 617527 257 254361 613723 615376 611067 2518 225400 312080 617290 570 618279 98916 101081 118300 118220 1170 617954 98810 613179 98908 610717 1173 275400 79096 610090 726 258450 613662 298 203700 613157 615249 616094 86812 613155 609308 613156 613158 613038 616362 256730 163690 603553 615830 615 157941 239500 301835 1187 311070 300661 614895 139406 611722 610992 79350 614023 77301 2658 151050 109 616263 261640 13 600462 617258 261630 617807 2510 79477 600118 600882 617751 1713 88619 616326 2470 438114 611523 1587 615895 101011 614751 257320 162300 244310 613075 175 329336 512260 616651 435938 276630 303600 612649 612650 98905 178145 424107 117000 255320 98 270550 607323 71 251019 615284 604563 46059 607330 614198 521411 604377 466794 616719 3208 602771 357043 602433 606002 62 608099 119 604286 219 601287 353 261197 601596 605726 1935 248800 171829 613406 157170 206900 182212 218000 245340 604369 269920 352649 617239 607483 158 99742 91130 610773 616839 609283 628 3342 208050 309854 617595 616963 266265 144755 229050 97229 614707 211530 211500 617143 158580 2116 234500 613135 52503 617301 158901 2250 271150 253300 309583 66631 609528 615085 269500 163746 609136 611584 313892 114290 275900 145410 615959 602099 101001 617519 162400 613640 617158 616437 609056 612783 601186 611087 412057 612073 245400 272300 616684 612998 612999 616040 53351 302060 617695 220500 496756 616439 602342 1727 261279 601954 2896 610954 616949 431329 1328 276193 613908 97927 604454 268130 254875 609560 617069 213980 617964 608091 614302 610688 1194 98902 605355 608423 230839 606408 618098 128100 256 2807 868 615512 609285 609284 284324 618164 369847 352530 615441 225750 254110 253250 486815 617066 2596 77258 1216 606071 600175 181405 90674 275100 90673 98767 178464 609 600334 603689 608807 611705 600638 609286 1145 301830 238446 105830 2707 2315 243800 618076 617054 251282 108600 182980 329475 435387 167320 277440 224050 200150 193 607317 208085 614898 220210 401800 83472 251300 608323 613561 314580 100996 617865 616339 615889 613163 205400 242500 240800 614857 612674 613933 614055 617762 614559 617933 615010 615286 606703 616287 614300 615873 46 103050 101109 618276 615829 300816 260600 616603 601162 616586 270200 614105 613661 607143 300884 603147 608104 608776 205100 614307 615809 615493 609313 85329 304340 617276 617050 614066 613744 612936 614067 306511 613647 261584 618185 608097 614607 251056 617808 615926 2508 300004 615574 617190 496790 617183 94122 182600 100 606693 71517 616045 300911 2834 357074 617403 3473 616455 617402 301040 309580 98755 98761 164500 98760 608768 615181 615349 615287 617120 617237 618092 309800 603358 217012 618291 614856 608022 613707 613706 617333 139536 363400 615924 270685 257300 218340 320375 613559 401901 601005 618285 170400 616457 618095 314647 614756 488594 616907 616672 163937 300422 606721 613563 616828 616816 300963 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617341 370921 615596 370924 615597 615768 603552 612164 585 272200 612621 617389 615530 615476 300966 615599 617126 612069 615918 79500 615338 617207 616900 98759 607136 1617 616654 94124 404493 320385 615031 616954 615582 101150 605407 300957 304700 617044 616829 2752 614424 98773 617255 612301 614969 617730 614458 617731 618201 617669 2770 99832 617873 618302 616974 613070 551000 616084 190350 617026 612389 225753 611603 613180 156610 615763 614039 612438 610678 616811 221770 617132 244450 617672 617899 79234 616801 613161 615824 616111 615159 617397 401795 300919 300968 615917 613404 466934 616683 216550 616840 615851 616708 615817 603563 329284 300894 616211 614322 278700 615777 85194 617302 612337 259050 300577 235730 270700 610244 616602 617260 615095 260565 268700 607944 617008 293168 606353 616681 309510 617225 363654 618012 67046 250950 529962 615474 458803 616795 256840 617929 435934 617395 618174 320411 363710 320380 268882 101003 614457 3472 300048 157846 230000 603513 608013 352641 330054 613206 230600 616859 309246 266130 233400 160120 618284 607346 435628 614098 615411 615282 236792 617668 314603 252150 252160 605013 320396 613162 617830 210000 79351 601815 447896 93947 324290 616640 123400 98811 607822 2379 311510 401830 613721 617938 613811 269150 615663 352596 607454 254857 277470 300570 615412 617133 319199 616948 617616 604317 401840 615686 90 207800 300166 616053 615030 615683 617046 231000 263570 616451 93474 609541 2466 303350 67047 613672 100988 896 148820 139480 245800 610181 53583 601042 2822 615658 617977 401805 139578 521390 401835
 

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