Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the nervous system (HP:0000707)help
Parent Node:
expand
Abnormal nervous system physiology (HP:0012638)help
..Starting node
..expand
Abnormality of higher mental function (HP:0011446)help
Term ID: 11446
Name: Abnormality of higher mental function
Synonym:
Definition: Cognitive, psychiatric or memory anomaly.
Comments:
Reference: HP:0011446
Genes and Diseases:
 
       Child Nodes:
........expandNeurological speech impairment (HP:0002167) help
................... HP:0001260 Dysarthria
................... HP:0001344 Absent speech
................... HP:0001618 Dysphonia
................... HP:0002168 Scanning speech
................... HP:0002300 Mutism
................... HP:0002357 Dysphasia
................... HP:0002371 Loss of speech
................... HP:0002381 Aphasia
................... HP:0002425 Anarthria
................... HP:0002465 Poor speech
................... HP:0002526 Deficit in nonword repetition
................... HP:0002546 Incomprehensible speech
................... HP:0006977 Grammar-specific speech disorder
................... HP:0010523 Alexia
................... HP:0010526 Dysgraphia
................... HP:0010529 Echolalia
................... HP:0025268 Stuttering
................... HP:0030784 Anomia
................... HP:0031814 Palilalia
........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
........expandLanguage impairment (HP:0002463) help
................... HP:0030391 Spoken Word Recognition Deficit
........expandReduced consciousness/confusion (HP:0004372) help
................... HP:0001254 Lethargy
................... HP:0001259 Coma
................... HP:0001262 Excessive daytime somnolence
................... HP:0001289 Confusion
................... HP:0002189 Excessive daytime sleepiness
................... HP:0002329 Drowsiness
................... HP:0007159 Fluctuations in consciousness
................... HP:0007185 Loss of consciousness
................... HP:0007200 Episodic hypersomnia
................... HP:0031358 Vegetative state
........expandAgnosia (HP:0010524) help
................... HP:0010525 Finger agnosia
................... HP:0010527 Astereognosia
................... HP:0010528 Prosopagnosia
................... HP:0030222 Visual agnosia
........expandOptic ataxia (HP:0031868) help
........expandMicrographia (HP:0031908) help
........expandCognitive impairment (HP:0100543) help
................... HP:0001268 Mental deterioration
................... HP:0002354 Memory impairment
................... HP:0031843 Bradyphrenia

 Sister Nodes: 
..expandAbnormal brain positron emission tomography (HP:0012657) help
..expandAbnormal central motor function (HP:0011442) 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 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:0011446HP:0011446Abnormality of higher mental function0ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0011446Abnormality of higher mental function0ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0004372Reduced consciousness/confusion1ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0100543Cognitive impairment1ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0001249Intellectual disability1ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0002167Neurological speech impairment1ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0010524Agnosia1ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0002463Language impairment1ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0002186Apraxia1ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0031868Optic ataxia1ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0031908Micrographia1ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0002186Apraxia1ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0031868Optic ataxia1ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0031908Micrographia1ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0002463Language impairment1ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0004372Reduced consciousness/confusion1ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0100543Cognitive impairment1ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0001249Intellectual disability1ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0002167Neurological speech impairment1ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0010524Agnosia1ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0007200Episodic hypersomnia2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0000750Delayed speech and language development2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0006977Grammar-specific speech disorder2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0010521Gait apraxia2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0030391Spoken word recognition deficit2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0007159Fluctuations in consciousness2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0002371Loss of speech2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0030217Limb apraxia2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0033630Brain fog2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0001256Intellectual disability, mild2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0001260Dysarthria2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0031814Palilalia2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0011098Speech apraxia2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0002425Anarthria2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0002187Intellectual disability, profound2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0010526Dysgraphia2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0031358Vegetative state2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0002168Scanning speech2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0002329Drowsiness2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0010864Intellectual disability, severe2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0031937Tachylalia2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0010528Prosopagnosia2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0010529Echolalia2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0030222Visual agnosia2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0033844Tachyphrenia2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0001262Excessive daytime somnolence2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0002546Incomprehensible speech2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0032588Hand apraxia2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0001259Coma2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0031843Bradyphrenia2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0006889Intellectual disability, borderline2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0002526Deficit in nonword repetition2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0001254Lethargy2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0002300Mutism2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0007301Oromotor apraxia2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0010523Alexia2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0001289Confusion2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0002354Memory impairment2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0002342Intellectual disability, moderate2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0007185Loss of consciousness2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0000658Eyelid apraxia2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0001268Mental deterioration2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0002465Poor speech2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0010527Astereognosia2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0002381Aphasia2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0032044Decreased vigilance2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0006887Intellectual disability, progressive2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0001618Dysphonia2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0000657Oculomotor apraxia2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0025268Stuttering2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0010525Finger agnosia2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0030222Visual agnosia2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0033844Tachyphrenia2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0001262Excessive daytime somnolence2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0002546Incomprehensible speech2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0032588Hand apraxia2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0001259Coma2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0031843Bradyphrenia2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0006889Intellectual disability, borderline2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0002526Deficit in nonword repetition2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0001254Lethargy2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0002300Mutism2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0007301Oromotor apraxia2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0010523Alexia2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0001289Confusion2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0002354Memory impairment2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0002342Intellectual disability, moderate2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0007185Loss of consciousness2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0000658Eyelid apraxia2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0001268Mental deterioration2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0002465Poor speech2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0010527Astereognosia2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0002381Aphasia2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0032044Decreased vigilance2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0006887Intellectual disability, progressive2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0001618Dysphonia2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0000657Oculomotor apraxia2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0025268Stuttering2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0010525Finger agnosia2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0010529Echolalia2ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0010528Prosopagnosia2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0007200Episodic hypersomnia2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0000750Delayed speech and language development2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0006977Grammar-specific speech disorder2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0010521Gait apraxia2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0030391Spoken word recognition deficit2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0007159Fluctuations in consciousness2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0002371Loss of speech2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0030217Limb apraxia2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0033630Brain fog2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0001256Intellectual disability, mild2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0001260Dysarthria2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0031814Palilalia2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0011098Speech apraxia2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0002425Anarthria2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0002187Intellectual disability, profound2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0010526Dysgraphia2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0031358Vegetative state2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0002168Scanning speech2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0002329Drowsiness2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0010864Intellectual disability, severe2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0031937Tachylalia2ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0033848Receptive aphasia3ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0033687Short term memory impairment3ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0002474Expressive language delay3ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0002333Motor deterioration3ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0001325Hypoglycemic coma3ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0011973Paroxysmal lethargy3ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0010534Transient global amnesia3ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0031258Delirium3ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0033688Long term memory impairment3ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0007024Pseudobulbar paralysis3ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0000726Dementia3ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0010863Receptive language delay3ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0030784Anomic aphasia3ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0012049Laryngeal dystonia3ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0002464Spastic dysarthria3ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0007086Social and occupational deterioration3ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0002357Dysphasia3ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0002427Expressive aphasia3ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0007017Progressive forgetfulness3ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0001344Absent speech3ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0002344Progressive neurologic deterioration3ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0008376Nasal, dysarthic speech3ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0002361Psychomotor deterioration3ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0033849Bilingual aphasia3ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0002330Paroxysmal drowsiness3ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0002427Expressive aphasia3ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0007017Progressive forgetfulness3ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0001344Absent speech3ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0002344Progressive neurologic deterioration3ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0008376Nasal, dysarthic speech3ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0002361Psychomotor deterioration3ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0033849Bilingual aphasia3ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0002330Paroxysmal drowsiness3ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0007086Social and occupational deterioration3ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0002357Dysphasia3ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0033848Receptive aphasia3ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0033687Short term memory impairment3ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0002474Expressive language delay3ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0002333Motor deterioration3ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0001325Hypoglycemic coma3ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0011973Paroxysmal lethargy3ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0010534Transient global amnesia3ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0031258Delirium3ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0033688Long term memory impairment3ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0007024Pseudobulbar paralysis3ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0000726Dementia3ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0010863Receptive language delay3ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0030784Anomic aphasia3ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0012049Laryngeal dystonia3ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0002464Spastic dysarthria3ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0011345Moderate expressive language delay4ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0007064Progressive language deterioration4ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0007307Rapid neurologic deterioration4ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0033690Retrograde memory impairment4ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0002439Frontolimbic dementia4ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0011351Moderate receptive language delay4ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0002145Frontotemporal dementia4ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0011352Severe receptive language delay4ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0007123Subcortical dementia4ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0002549Deficit in phonologic short-term memory4ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0011346Mild expressive language delay4ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0006863Severe expressive language delay4ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0007272Progressive psychomotor deterioration4ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0033689Anterograde memory impairment4ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0000727Frontal lobe dementia4ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0011350Mild receptive language delay4ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0002145Frontotemporal dementia4ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0011352Severe receptive language delay4ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0007123Subcortical dementia4ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0002549Deficit in phonologic short-term memory4ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0011346Mild expressive language delay4ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0006863Severe expressive language delay4ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0007272Progressive psychomotor deterioration4ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0033689Anterograde memory impairment4ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0000727Frontal lobe dementia4ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0011350Mild receptive language delay4ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0011345Moderate expressive language delay4ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0007064Progressive language deterioration4ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0007307Rapid neurologic deterioration4ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0033690Retrograde memory impairment4ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0002439Frontolimbic dementia4ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0011351Moderate receptive language delay4ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0033691Procedural memory loss5ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0030219Semantic dementia5ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0033692Declarative memory loss5ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0033692Declarative memory loss5ISPD CL E G H729920352479ORPHA054537276614631
HP:0011446HP:0033691Procedural memory loss5ISPD CL E G H729920352479ORPHA054937276614631
HP:0011446HP:0030219Semantic dementia5ISPD CL E G H729920352479ORPHA054937276614631


Genes (2061) :A2ML1 AAAS AARS AARS2 AASS ABAT ABCA12 ABCA4 ABCA5 ABCA7 ABCB7 ABCC8 ABCC9 ABCD1 ABCD4 ABHD12 ABHD5 ACADL ACADM ACADS ACADSB ACADVL ACAT1 ACD ACER3 ACO2 ACOX1 ACOX2 ACP5 ACSL4 ACTA1 ACTA2 ACTB ACTG1 ACVR1 ADA2 ADAM22 ADAMTS10 ADAMTS13 ADAMTS2 ADAMTS3 ADAMTSL4 ADAR ADAT3 ADCY5 ADD3 ADGRG1 ADK ADNP ADPRHL2 ADRA2B ADSL AFF2 AFF4 AFG3L2 AGA AGBL5 AGGF1 AGL AGPAT2 AGRN AGTR2 AHCY AHDC1 AHI1 AHR AHSG AIFM1 AIMP2 AIPL1 AK9 AKT1 AKT2 AKT3 ALDH18A1 ALDH3A2 ALDH4A1 ALDH5A1 ALDH7A1 ALDOA ALDOB ALG11 ALG12 ALG13 ALG2 ALG9 ALMS1 ALOX12B ALOXE3 ALS2 ALX1 ALX3 ALX4 AMACR AMER1 AMMECR1 AMN AMT ANK1 ANK3 ANKLE2 ANKRD11 ANKRD55 ANO10 ANOS1 ANTXR1 AP1S1 AP1S2 AP3B1 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APC APC2 APOE APP APTX AQP2 AR ARCN1 ARF1 ARFGEF2 ARG1 ARHGAP31 ARHGDIA ARHGEF18 ARHGEF2 ARHGEF6 ARHGEF9 ARID1A ARID1B ARID2 ARL13B ARL2BP ARL3 ARL6 ARL6IP6 ARMC9 ARNT2 ARSA ARSI ARV1 ARVCF ARX ASAH1 ASCL1 ASH1L ASL ASPA ASPM ASS1 ASXL1 ASXL2 ASXL3 ATAD1 ATAD3A ATCAY ATG5 ATIC ATL1 ATM ATN1 ATP13A2 ATP1A2 ATP1A3 ATP2A2 ATP2B3 ATP5F1D ATP5F1E ATP6 ATP6AP1 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATP7B ATP8A2 ATR ATRIP ATRX ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8 ATXN8OS AUH AUTS2 AVP AVPR2 B3GALNT2 B3GALT6 B3GLCT B4GALNT1 B4GAT1 B9D1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAP31 BCKDHA BCKDHB BCKDK BCL11A BCL11B BCOR BCR BCS1L BDNF BEAN1 BEST1 BIN1 BLM BMP4 BMPR1B BOLA3 BPTF BRAF BRAT1 BRCA1 BRCA2 BRF1 BRIP1 BRPF1 BRWD3 BSCL2 BSND BTD BTK BUB1 BUB1B BUB3 C12ORF4 C12ORF57 C12ORF65 C19ORF12 C2CD3 C4A C8ORF37 C9ORF72 CA2 CA4 CA5A CA8 CACNA1A CACNA1B CACNA1C CACNA1D CACNA1E CACNA1G CACNB4 CACNG2 CAD CAMK2A CAMK2B CAMKMT CAMTA1 CANT1 CAPN1 CASK CASR CAV1 CAVIN1 CBL CBS CC2D1A CC2D2A CCBE1 CCDC141 CCDC174 CCDC22 CCDC47 CCDC78 CCDC88A CCDC88C CCM2 CCND2 CCR1 CD247 CD96 CDC42 CDC45 CDC6 CDCA7 CDH11 CDH15 CDH23 CDHR1 CDK10 CDK13 CDK5RAP2 CDK6 CDKL5 CDON CDT1 CENPE CENPJ CEP104 CEP120 CEP135 CEP152 CEP19 CEP290 CEP41 CEP57 CEP63 CEP83 CERKL CERS1 CHAMP1 CHAT CHCHD10 CHD1 CHD2 CHD3 CHD4 CHD7 CHKB CHMP1A CHMP2B CHRM3 CHRNA1 CHRNA2 CHRNA4 CHRNA7 CHRNB1 CHRND CHRNE CHRNG CHST14 CIB2 CIC CISD2 CIT CIZ1 CKAP2L CLCF1 CLCN4 CLCNKA CLCNKB CLIC2 CLIP2 CLMP CLN3 CLN5 CLN6 CLN8 CLP1 CLPB CLRN1 CLTC CNGA1 CNGB1 CNKSR2 CNNM2 CNPY3 CNTN2 CNTNAP2 COA7 COA8 COASY COG1 COG4 COG5 COG6 COG8 COL11A2 COL13A1 COL18A1 COL1A1 COL1A2 COL2A1 COL3A1 COL4A1 COL4A3BP COL5A1 COL5A2 COL6A3 COLEC10 COLEC11 COLQ COMT COPB2 COQ2 COQ8A COX1 COX10 COX14 COX15 COX2 COX20 COX3 COX6B1 COX7B COX8A CP CPLANE1 CPLX1 CPOX CPS1 CPT1A CPT2 CRADD CRAT CRB1 CRBN CREBBP CRKL CRLF1 CRPPA CRX CRYAB CSF1R CSNK2A1 CSPP1 CST3 CSTB CTBP1 CTC1 CTCF CTDP1 CTNNA2 CTNNB1 CTNND2 CTNS CTSA CTSD CTSF CTSH CTSK CUBN CUL4B CUX2 CWC27 CWF19L1 CXORF56 CYB5R3 CYFIP2 CYP24A1 CYP27A1 CYP2U1 CYP4F22 CYP7B1 CYTB D2HGDH DAB1 DACT1 DAG1 DARS DARS2 DBT DCAF17 DCC DCHS1 DCPS DCTN1 DCX DDB2 DDHD2 DDOST DDX11 DDX3X DDX59 DEAF1 DENND5A DEPDC5 DGCR2 DGCR6 DGCR8 DGUOK DHCR24 DHCR7 DHDDS DHTKD1 DHX30 DHX38 DIAPH1 DIP2B DIS3L2 DISC2 DISP1 DKC1 DLAT DLD DLG3 DLL1 DLL3 DLL4 DMD DMPK DMXL2 DNA2 DNAJB2 DNAJB6 DNAJC12 DNAJC13 DNAJC19 DNAJC21 DNAJC3 DNAJC5 DNAJC6 DNAL4 DNM1 DNM1L DNMT1 DNMT3A DNMT3B DOCK6 DOK7 DOLK DONSON DPAGT1 DPF2 DPH1 DPM3 DPP6 DPYD DPYS DSG4 DSTYK DUOX2 DUOXA2 DUSP6 DVL1 DVL3 DYM DYNC1H1 DYNC2LI1 DYRK1A EARS2 EBF3 EBP ECE1 ECHS1 ECM1 EDA EDC3 EDN3 EDNRB EED EEF1A2 EEF2 EFL1 EFNB1 EFTUD2 EGF EHMT1 EIF2AK3 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S3 EIF4G1 ELMO2 ELN ELOVL4 ELOVL5 ELP2 EMC1 EML1 ENTPD1 EOGT EP300 EPB41L1 EPCAM EPG5 EPM2A EPRS ERAP1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ERLIN1 ERLIN2 ERMARD ESCO2 ESS2 ETFA ETFB ETFDH ETHE1 EVC EVC2 EXOSC2 EXOSC3 EXT1 EXT2 EXTL3 EYA1 EYS EZH2 FA2H FAM126A FAM161A FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FAS FASTKD2 FAT2 FAT4 FBN1 FBP1 FBXO11 FBXO31 FBXO7 FEZF1 FGD1 FGF12 FGF14 FGF17 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FIBP FIG4 FKRP FKTN FLCN FLI1 FLII FLNA FLNB FLRT1 FLRT3 FLVCR1 FMN2 FMR1 FOLR1 FOS FOXE1 FOXE3 FOXG1 FOXH1 FOXI1 FOXP1 FOXP2 FOXRED1 FRA16E FRAS1 FREM2 FRG1 FRMD4A FRMPD4 FRRS1L FSCN2 FTCD FTL FTSJ1 FUCA1 FUS FUT8 FXN FZD2 GABBR2 GABRA1 GABRB2 GABRB3 GABRD GAD1 GALC GALE GALT GAMT GAN GAS1 GATA1 GATA2 GATA4 GATA6 GATAD2B GATM GBA GBA2 GBE1 GCDH GCH1 GCK GCSH GDF3 GDF5 GDF6 GDI1 GDNF GEMIN4 GFPT1 GGT1 GHR GIGYF2 GJA1 GJA5 GJA8 GJB1 GJB2 GJB3 GJB4 GJB6 GJC2 GK GLA GLB1 GLDC GLI1 GLI2 GLI3 GLRA1 GLRB GLRX5 GLUD1 GLYCTK GM2A GMNN GMPPA GMPPB GNA11 GNAL GNAO1 GNAQ GNAS GNB1 GNB5 GNE GNPAT GNPTAB GNPTG GNS GORAB GOSR2 GP1BB GPAA1 GPC3 GPC4 GPC6 GPHN GPI GPIHBP1 GPR161 GPR88 GPSM2 GPT2 GRHL3 GRIA3 GRIA4 GRID2 GRIK2 GRIN1 GRIN2A GRIN2B GRIN2D GRIP1 GRM1 GRN GSS GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTPBP2 GUCA1B GUCY2D GUF1 GUSB GYS2 H19 HAAO HACD1 HACE1 HADH HADHA HADHB HAL HAMP HBA1 HBA2 HCCS HCFC1 HCN1 HCRT HDAC4 HDAC6 HDAC8 HECW2 HELLS HEPACAM HERC1 HERC2 HES7 HESX1 HEXA HEXB HGSNAT HHAT HIKESHI HINT1 HIRA HIST1H1E HIVEP2 HJV HLA-B HLA-DQB1 HLA-DRB1 HLCS HMBS HMGA2 HMGB3 HMGCL HNF1A HNF1B HNF4A HNMT HNRNPA1 HNRNPA2B1 HNRNPH2 HNRNPK HNRNPU HOXB1 HPCA HPD HPRT1 HRAS HS6ST1 HSD17B10 HSD17B4 HSPD1 HSPG2 HTRA1 HTT HUWE1 HYLS1 HYMAI IARS IBA57 IDH3B IDS IDUA IER3IP1 IFIH1 IFRD1 IFT140 IFT172 IFT27 IFT74 IFT88 IGBP1 IGF1 IGF1R IGF2 IKBKG IL10 IL12A IL12A-AS1 IL12B IL12RB1 IL17RD IL1RAPL1 IL23R IL2RA IL2RB IMPA1 IMPDH1 IMPG2 INPP5E INPP5K INS INSR INTU IPW IQCB1 IQSEC2 IRF2BPL IRF5 IRF6 ISCA2 ITGA7 ITGB6 ITM2B ITPR1 IVD IYD JAG1 JAK2 JMJD1C JPH3 KANK1 KANSL1 KAT6A KAT6B KATNB1 KCNA1 KCNA2 KCNA4 KCNAB2 KCNB1 KCNC1 KCNC3 KCND3 KCNE5 KCNH1 KCNJ1 KCNJ10 KCNJ11 KCNJ13 KCNJ6 KCNJ8 KCNK9 KCNMA1 KCNQ1OT1 KCNQ2 KCNQ3 KCNQ5 KCNT1 KCTD17 KCTD7 KDM1A KDM5B KDM5C KDM6A KDSR KIAA0556 KIAA0586 KIAA0753 KIAA1109 KIAA1549 KIDINS220 KIF11 KIF14 KIF1A KIF1B KIF1BP KIF1C KIF4A KIF5C KIF7 KISS1R KIT KIZ KLC2 KLF13 KLHL15 KLHL7 KLLN KLRC4 KMT2A KMT2B KMT2C KMT2D KMT5B KNL1 KPTN KRAS KRIT1 KRT16 KRT17 KRT18 KRT6A KRT6B KRT81 KRT83 KRT86 KY KYNU L1CAM L2HGDH LAGE3 LAMA1 LAMA2 LAMB1 LAMB2 LAMP2 LARGE1 LARP7 LAS1L LBR LCA5 LEMD3 LETM1 LFNG LHX1 LHX3 LHX4 LIG4 LIMK1 LINGO1 LINS1 LIPN LIPT1 LIPT2 LMAN2L LMBR1 LMBRD1 LMF1 LMNA LMNB1 LMNB2 LNPK LONP1 LRAT LRP2 LRP4 LRP5 LRPPRC LRRK2 LTBP2 LTBP4 LYRM7 LYST LZTFL1 LZTR1 MAB21L2 MAD2L2 MAF MAG MAGEL2 MAK MAN1B1 MAN2B1 MANBA MAOA MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPK1 MAPK10 MAPRE2 MAPT MARS MARS2 MASP1 MAT1A MATR3 MAX MBD5 MBOAT7 MBTPS2 MC2R MCCC1 MCCC2 MCM3AP MCOLN1 MCPH1 MCTP2 MDH2 MECP2 MECR MED12 MED13L MED23 MEF2C MEFV MEGF8 MEIS2 MEN1 MEOX1 MERTK MESP2 METTL23 MFF MFN2 MFSD2A MFSD8 MGAT2 MGME1 MGP MICOS13 MID2 MIR17HG MKKS MKRN3 MKRN3-AS1 MKS1 MLC1 MLH1 MLH3 MLX MLXIPL MMAA MMAB MMACHC MMADHC MME MMEL1 MMUT MOCS1 MOG MPDU1 MPDZ MPL MPLKIP MRE11 MRPS16 MRPS2 MRPS34 MSH2 MSH6 MSMO1 MSTO1 MTFMT MTHFD1 MTO1 MTOR MTPAP MTR MTRR MUSK MVK MYCN MYD88 MYH3 MYH7 MYL2 MYMK MYO1H MYO5A MYO7A MYO9A MYOD1 MYOT MYRF MYT1L NAA10 NAA15 NACC1 NAGA NAGLU NAGS NALCN NANS NARS2 NAXE NBAS NBN NCAPD2 NCAPD3 ND1 ND4 ND5 ND6 NDE1 NDN NDP NDST1 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA9 NDUFAF2 NDUFAF5 NDUFAF6 NDUFB11 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NECAP1 NECTIN1 NEDD4L NEK1 NEK2 NELFA NEU1 NEXMIF NF1 NF2 NFE2L2 NFIA NFIX NFKB2 NFU1 NGF NHLRC1 NHP2 NHS NIN NIPAL4 NIPBL NKX2-1 NKX2-5 NKX6-2 NLGN4X NLRC4 NLRP3 NMNAT1 NNT NODAL NONO NOP10 NOP56 NOTCH1 NOTCH3 NPAP1 NPC1 NPC2 NPHP1 NR2E3 NR2F1 NR4A2 NRAS NRL NRTN NRXN1 NSD1 NSD2 NSDHL NSMF NSUN2 NT5C2 NTN1 NTNG1 NTRK1 NTRK2 NUBPL NUP107 NUP62 NUS1 NXN OCLN OCRL OFD1 OGT OPA1 OPA3 OPHN1 OPTN ORAI1 ORC1 ORC4 ORC6 OSGEP OTC OTUD6B OTX2 P2RY11 PABPN1 PACS1 PACS2 PAFAH1B1 PAH PAK1 PAK3 PALB2 PANK2 PARN PAX1 PAX2 PAX3 PAX6 PAX8 PBX1 PC PCARE PCCA PCCB PCDH12 PCDH15 PCDH19 PCNA PCNT PCYT1A PDCD10 PDE10A PDE11A PDE4D PDE6A PDE6B PDE6D PDE6G PDE8B PDGFB PDGFRB PDHA1 PDHX PDP1 PDSS1 PDX1 PDYN PEPD PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PFN1 PGAP1 PGAP2 PGAP3 PGK1 PGM3 PHC1 PHF21A PHF6 PHF8 PHGDH PHIP PHOX2B PHYH PIBF1 PIEZO2 PIGA PIGC PIGG PIGH PIGL PIGN PIGO PIGP PIGV PIGW PIGY PIK3CA PIK3R1 PIK3R2 PIK3R5 PINK1 PITX3 PLA2G6 PLAA PLAGL1 PLD3 PLEC PLEKHG2 PLEKHG4 PLK4 PLP1 PLPBP PMPCA PMPCB PMS1 PMS2 PNKD PNKP PNP PNPLA2 PNPLA6 PNPLA8 PNPT1 PODXL POGZ POLA1 POLG POLG2 POLR1C POLR1D POLR3A POLR3B POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN POU1F1 POU2AF1 PPARG PPM1B PPM1D PPOX PPP1CB PPP1R15B PPP2R1A PPP2R2B PPP2R5D PPP3CA PPT1 PQBP1 PRCD PRDM16 PRDM8 PRDX1 PREPL PRF1 PRICKLE1 PRKAR1A PRKAR1B PRKCG PRKD1 PRKRA PRMT7 PRNP PRODH PROK2 PROKR2 PROM1 PROP1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRRT2 PRSS12 PSAP PSEN1 PSEN2 PSMB8 PSMD12 PSPH PTCH1 PTCH2 PTCHD1 PTDSS1 PTEN PTPN11 PTPN2 PTPN22 PTRH2 PTS PUF60 PUM1 PURA PUS1 PUS3 PWAR1 PWRN1 PYCR1 PYCR2 QDPR QRICH1 RAB11B RAB18 RAB23 RAB27A RAB39B RAB3GAP1 RAB3GAP2 RAC1 RAD21 RAD50 RAD51 RAD51C RAF1 RAI1 RANBP2 RAPSN RARB RARS RARS2 RASA2 RB1 RBBP8 RBM28 RBM8A RBMX RBP3 RBPJ RD3 RDH12 RECQL4 REEP1 REEP2 REEP6 REPS1 RERE RET RFC2 RFT1 RFWD3 RGR RHO RHOBTB2 RIN2 RIPK4 RIPPLY2 RIT1 RLBP1 RLIM RMND1 RMRP RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF113A RNF125 RNF135 RNF213 RNF216 RNR1 RNU12 RNU4ATAC ROBO1 ROBO3 ROGDI ROM1 ROR2 RORA RP1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPIA RPL10 RPS19 RPS23 RPS6KA3 RRAS RREB1 RRM2B RSPRY1 RTEL1 RTN4IP1 RTTN RUBCN RUSC2 RXYLT1 RYR1 SACS SAG SALL1 SAMD12 SAMD9L SAMHD1 SAR1B SARS SASS6 SATB2 SBDS SBF1 SC5D SCAPER SCARB2 SCN1A SCN2A SCN3A SCN4A SCN8A SCO1 SCO2 SCYL1 SDCCAG8 SDHA SDHAF1 SDHAF2 SDHB SDHC SDHD SDR9C7 SEC23A SEC23B SEC24C SEC61A1 SELENON SEMA3A SEMA3C SEMA3D SEMA3E SEMA4A SEMA5A SEPSECS SEPTIN9 SERAC1 SERPINI1 SET SETBP1 SETD2 SETD5 SETX SF3B4 SFXN4 SGCB SGPL1 SGSH SH2B1 SHANK3 SHH SHOC2 SHROOM4 SIGMAR1 SIK1 SIL1 SIM1 SIN3A SIX3 SKI SLC12A1 SLC12A5 SLC12A6 SLC13A5 SLC16A1 SLC16A2 SLC17A5 SLC18A2 SLC18A3 SLC19A2 SLC19A3 SLC1A1 SLC1A2 SLC1A3 SLC1A4 SLC20A2 SLC22A5 SLC25A1 SLC25A12 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC25A22 SLC25A24 SLC25A4 SLC26A4 SLC29A3 SLC2A1 SLC2A10 SLC2A3 SLC30A10 SLC30A9 SLC33A1 SLC35A1 SLC35A3 SLC35C1 SLC36A2 SLC39A14 SLC39A4 SLC39A8 SLC3A1 SLC45A1 SLC46A1 SLC4A1 SLC4A4 SLC52A2 SLC52A3 SLC5A5 SLC5A7 SLC6A1 SLC6A17 SLC6A19 SLC6A20 SLC6A3 SLC6A5 SLC6A8 SLC7A14 SLC7A7 SLC9A1 SLC9A6 SLITRK1 SLITRK6 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCE1 SMC1A SMC3 SMO SMOC1 SMPD1 SMS SNAI2 SNAP25 SNAP29 SNCA SNCAIP SNCB SNORD115-1 SNORD116-1 SNORD118 SNRNP200 SNRPB SNRPN SNX14 SOBP SOD1 SON SORL1 SOS1 SOS2 SOST SOX10 SOX11 SOX2 SOX3 SOX5 SPARC SPART SPAST SPATA5 SPATA7 SPECC1L SPEG SPG11 SPG21 SPG7 SPIB SPINK5 SPR SPRY4 SPTAN1 SPTBN2 SPTBN4 SQSTM1 SRCAP SRD5A3 SRP54 SRPX2 SRY SSR4 ST3GAL3 ST3GAL5 STAC3 STAG1 STAT3 STAT4 STIL STIM1 STRA6 STRADA STS STT3A STT3B STUB1 STX16 STXBP1 SUCLA2 SUCLG1 SUFU SULT2B1 SUMF1 SURF1 SUZ12 SYNE1 SYNGAP1 SYNJ1 SYP SYT14 SYT2 SZT2 TAB2 TAC3 TACO1 TACR3 TAF1 TAF13 TAF2 TAF6 TANGO2 TARDBP TAT TBC1D20 TBC1D23 TBC1D24 TBC1D7 TBCD TBCE TBCK TBK1 TBL1XR1 TBL2 TBP TBR1 TBX1 TBX4 TBXAS1 TCF12 TCF4 TCN2 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TDP1 TDP2 TECPR2 TECR TELO2 TENT5A TERT TFAP2A TFAP2B TG TGFB1 TGFBR1 TGFBR2 TGIF1 TGM1 TGM6 TH THAP1 THOC2 THOC6 THPO THRA THRB TIMM50 TIMM8A TIMMDC1 TINF2 TK2 TKT TLK2 TLR4 TMCO1 TMEM106B TMEM107 TMEM127 TMEM138 TMEM216 TMEM231 TMEM237 TMEM240 TMEM67 TMEM70 TMEM94 TMPRSS6 TMTC3 TNFSF15 TNFSF4 TNIK TNPO3 TOE1 TOMM40 TOP3A TOPORS TOR1A TP53 TP53RK TP63 TPK1 TPM2 TPM3 TPO TPP1 TPRKB TPRN TRAF7 TRAIP TRAK1 TRAPPC11 TRAPPC6B TRAPPC9 TRDN TREM2 TREX1 TRH TRIM32 TRIM37 TRIO TRIP12 TRIP13 TRIP4 TRIT1 TRMT1 TRMT10A TRMT5 TRNC TRNE TRNF TRNH TRNK TRNL1 TRNL2 TRNN TRNP TRNQ TRNS1 TRNS2 TRNT TRNV TRNW TRPS1 TRPV6 TSC1 TSC2 TSEN15 TSFM TSHB TSHR TSPAN7 TTBK2 TTC19 TTC37 TTC8 TTI2 TTN TTPA TTR TUB TUBA1A TUBA4A TUBA8 TUBB TUBB2B TUBB3 TUBB4A TUBGCP4 TUBGCP6 TULP1 TUSC3 TWIST1 TWIST2 TWNK TYMP TYROBP UBA1 UBA5 UBAC2 UBB UBE2A UBE2T UBE3A UBE3B UBQLN2 UBR1 UBTF UCP2 UFC1 UFD1 UFM1 UGT1A1 UNC80 UPB1 UPF3B UQCC2 UQCRC2 UQCRQ UROC1 USH1C USH1G USH2A USP18 USP27X USP8 USP9X VAC14 VAMP1 VAPB VARS VCP VHL VLDLR VPS11 VPS13A VPS13B VPS13C VPS13D VPS35 VPS37A VPS53 VRK1 VWA3B WAC WARS2 WASHC4 WASHC5 WDFY3 WDPCP WDR11 WDR26 WDR34 WDR4 WDR45 WDR45B WDR48 WDR62 WDR73 WDR81 WFS1 WHCR WNT5A WT1 WWOX XK XPA XPC XPNPEP3 XPR1 XRCC1 XRCC2 XRCC4 XYLT1 XYLT2 YAP1 YARS2 YME1L1 YWHAG YY1 YY1AP1 ZBTB16 ZBTB18 ZBTB20 ZBTB24 ZC3H14 ZC4H2 ZDHHC15 ZDHHC9 ZEB2 ZFP57 ZFR ZFYVE26 ZIC1 ZIC2 ZMYND11 ZNF148 ZNF365 ZNF408 ZNF41 ZNF423 ZNF513 ZNF592 ZNF711 ZNF81 ZNHIT3 ZSWIM6

Diseases (2406) :352479 231550 442835 615889 238700 268700 313 791 2026 1020 2802 99885 99886 240800 256450 966 275630 203750 3322 617762 2971 777 300387 2020 2573 79107 243310 2995 614583 337 135100 2136 1885 615286 617008 606854 615752 615873 86814 607876 46 103050 309548 616368 614487 93 208400 90308 528 98914 613752 615829 220493 475 608629 2850 101078 310490 65 201 744 615109 615937 35664 219150 616586 816 270200 239510 22 271980 3006 266100 611881 229600 79324 324422 79326 607906 79328 608776 64 242100 306542 613456 136760 52022 613451 2780 300990 605899 251066 148050 85408 613728 230740 171851 609313 306511 613647 821 617169 324703 208920 125800 617164 90 207800 100300 974 615244 617523 1465 614607 135900 617808 612291 110 600151 1556 617622 3157 250100 401815 452 3175 308350 300419 309510 333 2590 228000 99803 617796 207900 23 314911 608716 215700 617190 615485 3197 496790 617183 617584 100 314632 104290 602481 1171 614820 614053 300972 300423 219200 278250 618012 79499 3473 616455 198 565 309400 905 1766 615268 808 210600 847 301040 164400 250950 615834 304800 588 899 615181 93359 709 101006 617120 904 615995 209900 615987 615989 615981 615982 615983 615984 615986 248600 614923 617101 617237 618092 568 2712 309800 261330 123 256000 124000 262000 661 893 617755 54595 115150 1340 613707 163950 613706 618056 84 617883 616202 617333 602522 1052 618221 1777 320375 615035 100070 275872 105550 2785 259730 97 617106 601005 616795 618087 614256 617798 617799 1425 251450 300422 428 394 236200 2318 612285 235510 7 614807 236600 221061 1308 616737 2554 2268 616910 211380 612580 231169 617694 617360 3095 95496 280200 613676 617761 613823 615703 615991 610188 614464 614728 615862 616230 616579 529965 617682 2382 615369 617159 138 214800 602541 614961 2970 600513 199318 2990 601776 617600 3463 617090 272440 3255 1545 613090 2301 204200 256731 1947 610003 411493 616271 617854 616418 610042 220110 436271 397725 613612 614576 615328 611182 287 85198 90653 2500 286 175780 616351 293843 248340 265050 98915 607426 612016 550 2556 2754 277170 352582 617976 237300 156 614499 180849 272430 221820 617062 615636 308 617915 615502 604168 615075 411629 351 256540 763 300354 250410 616127 301013 250800 143880 909 213700 320411 615030 270800 600721 857 613818 611105 3464 241080 617542 601390 300067 910 320380 615033 300536 613398 457260 300958 2919 174300 819 617171 615828 604364 192430 617070 35107 818 270400 617836 617804 136630 2849 305000 300850 2311 98896 615807 610198 811 616192 391411 615528 616346 615879 242860 91131 86309 608093 618027 616901 616311 274270 222748 573 270750 95716 274900 3107 180700 239 614563 289 617330 300960 388 3447 617561 1520 79113 96147 1667 300148 3019 194050 617270 616875 615683 614257 144 1493 254780 617951 220295 601675 278730 616390 610651 278760 214150 133540 278800 216400 2343 3267 209951 611225 3103 268300 51188 602473 225500 502 617425 2792 277590 171629 612319 610532 227650 3412 227645 227646 600901 616154 3437 615546 2462 618089 615979 915 2396 2645 147950 101600 87 93259 93260 101200 207410 123500 101400 609579 35098 35099 93274 429 610474 146000 602849 616482 606812 606612 253800 610883 851 2308 90652 305620 304120 503 150250 88628 609033 616193 908 613068 1226 88632 613454 705 274600 613670 2052 219000 158900 616819 300983 616981 229100 157846 606159 230000 618005 617904 617903 615744 617829 617113 1606 603513 230350 79239 230400 612736 643 256850 190685 3226 2255 615074 612718 231000 614409 206583 263570 25 602485 2345 968 300849 231950 633 2710 164200 317 612474 101075 477 494 189 608804 613206 307030 324 230500 672 606762 220120 309246 616835 615510 363623 615351 617493 624 3205 185300 79443 79444 103580 612462 612463 488613 616973 617173 617182 222765 252600 252940 231070 617810 373 93329 613470 616939 477673 616281 300699 617864 363432 616204 611092 614254 245570 616139 613970 324262 614831 607485 266130 616395 617988 204000 584 253220 617660 464282 616756 609975 5 2157 98791 309541 615871 1001 3459 199 300882 617268 616911 613925 613926 617011 615516 226307 252930 1422 617537 616977 3287 300915 324575 93111 261265 263455 616739 52430 300986 616580 617391 300322 3071 218040 163200 2612 85295 300438 233400 800 255800 300706 617093 615330 93473 607014 615846 266920 615630 615996 617119 52055 300472 608747 73273 270450 464 308300 617323 213300 559 617404 508 217377 309530 618088 613204 208513 1065 206700 117360 274800 612900 610443 616268 3047 85201 616212 616366 605259 607346 241200 612780 612292 306 439218 1949 613720 617601 615005 263516 611726 147920 300867 617822 521390 617296 2526 617914 614255 66629 609460 300923 200990 2884 300982 319182 605130 617284 617768 617788 604321 615637 2309 496689 79155 236800 2466 1497 304100 303350 307000 2065 301006 607855 258 615191 34587 300257 613154 309585 169400 221750 235 99812 618103 614340 2378 212112 79087 600373 2143 615838 352723 214500 615994 601088 459056 616680 615547 248500 118 248510 3057 300615 2505 616734 600274 172700 611390 250850 156200 617188 2273 308205 210200 210210 578 252650 251200 778 1762 300260 776 305450 300895 309520 614249 65759 261190 600987 615942 352447 615084 67047 300928 614326 2473 605231 615990 617121 277400 79283 277410 79312 289916 252150 79323 615219 234050 617950 614947 614702 607341 616638 250940 29 164280 33226 2053 193700 437572 1358 254940 33445 79476 214450 616521 617787 617393 79281 609242 252920 237310 610442 251260 551 616116 3253 617201 812 256550 85277 300912 139474 601321 613735 561 602535 614753 224230 613987 627 122470 527497 617560 300495 1451 300967 257220 607625 220497 609583 615722 168600 228415 117550 300831 611091 320396 613162 642 256800 613886 271930 617831 1507 534 300555 309000 2750 300804 311200 300997 210000 258501 137831 300486 3204 224690 617729 311250 615009 618067 607432 2209 261600 300558 216866 216873 120330 896 148820 194072 266150 35 300088 2637 210720 616922 950 280651 614613 213600 312170 245349 608782 742 912 3220 266510 614877 614866 202370 214110 614863 614879 215100 615802 615716 300653 615816 127 300263 601815 617991 2461 248700 617816 3474 280000 2059 614080 614749 239300 616025 60040 615108 602501 3163 610623 256600 612953 521426 617527 2518 616171 99015 312080 312920 617290 1170 213200 617954 98810 616267 613179 2377 1173 245800 275400 616364 301220 254886 254892 298 94125 607459 616494 264090 613151 616094 86812 609308 613156 2092 305600 613038 617450 2701 616362 616355 617711 256730 93946 93947 309500 101800 412066 98763 210571 612067 617157 137440 239500 99014 301835 1187 300661 249500 607822 617516 614023 377 77301 109400 2658 151050 2969 109 605309 616263 13 617931 616158 2598 600462 614438 226 261630 201000 2379 300271 311510 1387 600118 617751 613078 617244 611553 182290 88619 2470 615524 616140 1587 251255 612079 274000 218600 268400 618004 217335 1234 615355 300978 175 607095 616479 616260 1824 2636 210710 2744 226750 268310 618060 204100 611560 300998 105650 303600 192 300844 612075 616723 404499 615705 617773 270550 601068 2585 246700 616402 612313 615284 607330 99735 614306 614558 615993 252011 617056 2901 614739 618106 616078 269150 616831 615761 252900 261197 261222 48652 607721 248800 94065 613406 157170 182212 601678 616645 218000 1496 616095 604369 352649 618049 222730 616657 238970 615418 1782 53583 71277 601042 606777 612126 608885 3342 208050 617595 603585 615553 242600 617013 229050 604278 97229 274400 617143 616421 2116 52503 300352 221200 2588 139210 3051 601358 614609 99966 614608 616938 300590 610759 1553 206920 257200 309583 66631 168601 1393 117650 209850 616354 617140 1513 269500 163746 609136 611584 615866 77298 313892 616803 101000 100985 182601 145410 616668 2822 604360 101001 248900 634 70594 612716 600224 615386 616437 2044 136140 612379 370927 300934 611090 255995 617635 612703 611087 461 281090 370921 615596 370924 615597 615768 245400 585 272200 612621 300802 284271 228410 300966 615599 617126 616878 28378 276600 220500 248000 617193 496756 617207 241410 2323 616439 616944 602342 607136 1617 1727 1802 275350 154500 2753 614815 404493 616949 320385 614020 1297 274700 1328 609192 610168 300957 613680 617044 618050 1394 213980 617964 617562 608091 98773 607454 610688 209981 617255 617028 2807 1896 604292 369847 615356 613192 2770 247691 192315 275120 617061 617752 617873 616033 538 805 191100 613254 617026 610505 609152 615157 222470 615985 615541 156610 610031 300570 612438 251270 611093 209885 271245 221770 1145 300860 238446 2707 2315 243800 618076 617899 79234 613161 300676 615160 300984 401795 300919 300968 892 224050 466934 616683 193 216550 614898 607596 616948 617710 615817 617616 329284 300894 604317 83472 251300 222300 614322 278700 613159 616541 615777 85194 120433 1473 617302 617665 617557 602531 612447 36367 612337 3042 259050 614069 617125 3454 300799 100996 270700 609637 617260 300803 603671 1827 617865 648 613163 301310 276575 1517 965 239850 300100 614857 612674 99900 201450 201470 610006 201475 614559 264470 617308 607944 86818 607371 820 182410 615688 617933 3449 277600 274150 1901 51 225154 615010 324588 606703 614300 618170 101109 313772 610246 366 98913 203650 238329 618006 176920 447753 447760 601162 300884 247604 293168 205100 607225 300605 228390 614307 300373 261100 615493 2512 261250 284289 478 85329 85335 304340 608233 280763 614066 613744 612936 614067 79665 261584 324708 324713 481 313200 618185 608097 300607 251056 618161 309256 309263 309271 617020 567 2508 300004 314918 97297 605039 94122 601238 250977 608688 100984 182600 208900 101 306674 513436 606693 617225 71517 601338 128235 124200 302500 618120 644 2834 357074 617403 277900 309580 98755 98761 603516 98756 183090 276238 276241 276244 109150 94147 164500 608768 67046 30925 261540 609195 300475 300166 217012 117210 169186 255200 125 210900 616849 614299 529962 500 300659 363400 269700 615924 79241 253260 300755 257300 218340 613559 289560 614298 615043 615948 117 617406 100069 275864 401901 615751 613227 71518 98758 108500 141500 183086 614860 369929 458803 211067 613855 616457 618095 163693 314647 614756 488594 616907 163937 300749 613563 608443 216360 1454 616816 300963 617507 423275 616053 1299 96253 604804 616080 300672 608393 616781 614673 614114 615911 1942 618205 614696 600795 608930 601462 610353 612001 608931 420492 300114 300886 600143 34527 617929 615643 611209 618150 3450 267750 1899 607595 603034 98933 227510 139485 255241 309801 48818 614615 194190 79273 121300 255120 228308 600649 608836 617917 607417 614643 399058 397715 254800 612199 48431 618174 281 610127 615362 85293 453521 100986 363710 615945 615281 238722 157600 168605 2148 329314 204750 616632 245348 2394 246900 310200 273 160900 616113 614881 34516 617384 260400 445062 614388 314404 604121 614116 994 617604 263494 293948 614104 302960 247100 305100 616460 616393 101112 609306 610536 611718 610253 603896 85282 1955 133190 614457 423296 615957 600348 401810 613684 610965 401785 615681 75857 615544 617763 614678 616682 166780 85163 617769 616006 608328 229700 260300 305400 617166 98764 609307 166250 794 168624 1860 85165 15 187600 29072 617107 613153 236670 272 90650 300321 311300 300049 320406 93256 261483 300624 300623 95713 261144 602081 618241 136570 466688 309549 349 95 229300 251071 230900 352641 233910 79299 302800 320401 230650 380 36 175700 616859 272750 615350 615352 219080 3166 252605 2078 614018 444490 604213 617820 617691 614706 616943 617065 2089 2128 71212 746 79230 83465 163966 300863 604004 176270 268800 324442 602390 79242 253270 79276 94063 246450 238769 614744 99657 224500 276710 510 612233 616779 600142 617435 85328 309900 614231 98771 616394 73272 186 300143 610156 263458 617926 616370 606658 243500 118450 71493 98934 606438 457193 606170 603736 972 37612 160120 618284 616187 98768 98772 611816 135500 199343 276580 435628 614098 79137 617643 616398 616728 618109 85279 300534 152950 2836 397946 611302 609541 215600 2182 79314 236792 615960 608840 615071 280 606593 616887 79284 277380 99027 2788 259770 220111 615877 614202 617137 601104 401835 314603 257920 600 606070 228402 85284 202200 618124 1596 300055 312750 300673 617282 616789 228384 613443 97279 99947 609260 616486 610951 79329 212066 85202 245150 251100 251110 79282 497764 617018 251000 251347 604391 610498 616834 502423 617675 617780 254343 613672 2169 236270 618198 98911 618113 276432 79279 79280 609241 616266 615419 616239 617186 616483 647 617983 614019 605013 649 310600 618249 618253 618247 618238 618239 618226 618228 252010 618232 618224 618222 618225 263520 162200 637 617744 605711 64752 608654 302350 614851 118700 610978 95712 225250 276198 614153 136 249400 613224 614325 308050 617830 618242 616730 251290 300209 613435 613803 505237 617452 164300 79254 618158 607236 234200 615560 95720 218700 617641 606054 251280 615919 494526 616921 610475 228169 609161 615483 614651 101108 610245 601539 214100 247815 614871 614920 614867 616716 773 614808 401820 614207 301900 85287 617146 114300 616917 618010 617599 616809 269880 603387 64753 615217 199351 610217 617770 257 616763 98765 118800 613402 98908 215470 251950 726 70595 157640 258450 447896 607694 614381 253280 618135 615249 613155 613150 79473 617506 616817 604326 324290 616640 603553 612437 610489 605361 617364 157941 282166 600072 603218 123400 98811 249900 2615 256040 79350 158350 151100 261640 508488 617051 617982 2510 614222 401830 212720 614225 1713 438114 300238 101011 610250 401849 617916 616975 612015 614922 329336 612951 300953 137634 212840 512260 616651 1946 608611 617412 613077 616732 614833 324581 98 159550 617709 251019 254900 607208 617935 521411 466794 616719 50814 613811 604218 606002 245 154400 615578 119 617575 329249 606232 147250 300434 1935 171829 369873 59 300523 49827 607483 617105 612656 158 212140 603471 613710 159 212138 2095 168569 309854 613280 370943 266265 201100 616721 617532 611590 616269 222700 616291 85278 300243 137580 1106 616330 609528 127750 614561 613671 500150 300123 616507 275900 616577 602099 35689 99013 607259 613477 352403 617145 612713 300643 1772 615006 370938 601186 412057 618093 612164 1933 612073 617757 610743 617389 615530 614229 614839 617432 612069 615663 617695 605021 616900 98759 188400 261279 2896 610954 615031 617952 113620 169100 276193 613908 101150 605407 98806 602629 614450 188570 617698 304700 613990 254875 609560 617069 617563 614465 2752 614970 614424 1194 618316 614969 618098 128100 617730 614458 284324 204500 609270 613307 618164 369840 617862 352530 615441 225750 253250 486815 618302 616539 2596 1349 663 254857 618188 275100 300210 98767 604432 96 105210 611603 613180 615771 614039 128101 200110 920 609286 617132 617133 105830 244450 300857 617672 276556 616801 615824 615159 210128 276880 617397 617054 251282 108600 608627 617802 435387 613954 2388 200150 616840 607317 319199 615851 616708 617520 615633 617977 401800 610185 284282 300842 616413 617633 79094 314580 300577 235730 401840 63440 616083 260565 293964 447757 613661 606353 617276 104310 606889 100006 104300 605714 159950 125370 569 314978 551500 98760 607932 618285 618268 615938 204300 601780 615803 301008 263501 613489 464440 616411 540000 105150 219800 2073 618008 616538 616459 178509 617281 181500 411602 162350 614924 616409 231680 171695 612691 245200 77261 608013 320391 617913 1175 401866 329466 615073 615473 94089 99771 617162 161400 272800 616881 248111 399 143100 609968 119500 176500 117300 616056 615282 617668 169500 618090 260540 617339 617086 609180 617664 293978 614736 125310 615007 616592 95433 300868 605909 614932 203700 861 98762 606688 616420 617807 607624 611523 617938 3208 616341 610021 612949 614482 238455 605543 105400 617519 609056 616654 94124 616954 618251 268130 98805 329478 167320 411590 230600 615422 280397 616208
 

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