CDK5 (cyclin dependent kinase 5)

Gene

• Entrez ID: 1020
• Gene name: Cyclin dependent kinase 5
• Gene symbol: CDK5
• Synonyms (NCBI Gene): LIS7, PSSALRE
• Chromosome: 7
• Chromosome location: 7q36.1
• Summary: This gene encodes a proline-directed serine/threonine kinase that is a member of the cyclin-dependent kinase family of proteins. Unlike other members of the family, the protein encoded by this gene does not directly control cell cycle regulation. Instead

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs786205164	C>T	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020734	hsa-miR-155-5p	Proteomics	18668040

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000226	Process	Microtubule cytoskeleton organization	TAS	17491008
GO:0000307	Component	Cyclin-dependent protein kinase holoenzyme complex	IPI	16039528
GO:0000307	Component	Cyclin-dependent protein kinase holoenzyme complex	ISS
GO:0001764	Process	Neuron migration	IEA
GO:0001764	Process	Neuron migration	TAS	21473899
GO:0001963	Process	Synaptic transmission, dopaminergic	IEA
GO:0002039	Function	P53 binding	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004672	Function	Protein kinase activity	TAS	1639063, 7834371
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	20357208, 21145489, 24607229
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	ISS
GO:0004674	Function	Protein serine/threonine kinase activity	NAS	28386764
GO:0004674	Function	Protein serine/threonine kinase activity	TAS	1639063, 17491008
GO:0004693	Function	Cyclin-dependent protein serine/threonine kinase activity	IBA
GO:0004693	Function	Cyclin-dependent protein serine/threonine kinase activity	TAS
GO:0005176	Function	ErbB-2 class receptor binding	IEA
GO:0005176	Function	ErbB-2 class receptor binding	ISS
GO:0005515	Function	Protein binding	IPI	8090221, 12223541, 14521924, 15689152, 15890360, 20133653, 20559324, 21220307, 22078880, 23455922, 23543736, 23602568, 25416956, 25852190, 26871637, 27107012, 28514442, 30833792, 32296183, 32707033, 32814053, 33961781, 34591612, 35016035, 35271311
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005874	Component	Microtubule	ISS
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007160	Process	Cell-matrix adhesion	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	21473899
GO:0007399	Process	Nervous system development	IEA
GO:0007409	Process	Axonogenesis	IBA
GO:0007409	Process	Axonogenesis	IEA
GO:0007409	Process	Axonogenesis	IEA
GO:0007416	Process	Synapse assembly	IEA
GO:0007416	Process	Synapse assembly	TAS	21473899
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0008017	Function	Microtubule binding	TAS	17491008
GO:0008045	Process	Motor neuron axon guidance	IEA
GO:0008306	Process	Associative learning	IEA
GO:0008542	Process	Visual learning	IEA
GO:0014044	Process	Schwann cell development	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0014069	Component	Postsynaptic density	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016079	Process	Synaptic vesicle exocytosis	TAS	21473899
GO:0016241	Process	Regulation of macroautophagy	TAS	21499257
GO:0016301	Function	Kinase activity	IEA
GO:0016301	Function	Kinase activity	ISS
GO:0016477	Process	Cell migration	IEA
GO:0016533	Component	Protein kinase 5 complex	IEA
GO:0016533	Component	Protein kinase 5 complex	IPI	15689152, 16039528
GO:0016533	Component	Protein kinase 5 complex	ISS
GO:0016740	Function	Transferase activity	IEA
GO:0019233	Process	Sensory perception of pain	IEA
GO:0021537	Process	Telencephalon development	IEA
GO:0021549	Process	Cerebellum development	IEA
GO:0021695	Process	Cerebellar cortex development	IEA
GO:0021697	Process	Cerebellar cortex formation	IEA
GO:0021766	Process	Hippocampus development	IEA
GO:0021819	Process	Layer formation in cerebral cortex	IEA
GO:0021954	Process	Central nervous system neuron development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0022038	Process	Corpus callosum development	IEA
GO:0030027	Component	Lamellipodium	IEA
GO:0030036	Process	Actin cytoskeleton organization	TAS	21473899
GO:0030054	Component	Cell junction	IDA
GO:0030175	Component	Filopodium	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030182	Process	Neuron differentiation	ISS
GO:0030182	Process	Neuron differentiation	TAS	21473899
GO:0030334	Process	Regulation of cell migration	IEA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	ISS
GO:0030426	Component	Growth cone	IEA
GO:0030426	Component	Growth cone	ISS
GO:0030517	Process	Negative regulation of axon extension	IEA
GO:0030547	Function	Signaling receptor inhibitor activity	IMP	24607229
GO:0030549	Function	Acetylcholine receptor activator activity	IEA
GO:0030549	Function	Acetylcholine receptor activator activity	ISS
GO:0030900	Process	Forebrain development	IEA
GO:0031175	Process	Neuron projection development	ISS
GO:0031175	Process	Neuron projection development	TAS	17491008
GO:0031397	Process	Negative regulation of protein ubiquitination	IEA
GO:0031594	Component	Neuromuscular junction	ISS
GO:0031914	Process	Negative regulation of synaptic plasticity	IEA
GO:0032801	Process	Receptor catabolic process	IEA
GO:0035249	Process	Synaptic transmission, glutamatergic	IEA
GO:0035255	Function	Ionotropic glutamate receptor binding	IPI	24607229
GO:0035418	Process	Protein localization to synapse	IEA
GO:0042220	Process	Response to cocaine	IEA
GO:0042981	Process	Regulation of apoptotic process	TAS	21473899
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	ISS
GO:0043025	Component	Neuronal cell body	ISS
GO:0043113	Process	Receptor clustering	IEA
GO:0043125	Function	ErbB-3 class receptor binding	IEA
GO:0043125	Function	ErbB-3 class receptor binding	ISS
GO:0043204	Component	Perikaryon	IEA
GO:0043525	Process	Positive regulation of neuron apoptotic process	ISS
GO:0045202	Component	Synapse	IEA
GO:0045786	Process	Negative regulation of cell cycle	IEA
GO:0045861	Process	Negative regulation of proteolysis	IMP	24548080
GO:0045892	Process	Negative regulation of DNA-templated transcription	IMP	20357208
GO:0045956	Process	Positive regulation of calcium ion-dependent exocytosis	IEA
GO:0046826	Process	Negative regulation of protein export from nucleus	IEA
GO:0048148	Process	Behavioral response to cocaine	IEA
GO:0048156	Function	Tau protein binding	NAS	28386764
GO:0048167	Process	Regulation of synaptic plasticity	ISS
GO:0048167	Process	Regulation of synaptic plasticity	TAS	21473899, 24607229
GO:0048488	Process	Synaptic vesicle endocytosis	TAS	21473899
GO:0048489	Process	Synaptic vesicle transport	IBA
GO:0048511	Process	Rhythmic process	IEA
GO:0048675	Process	Axon extension	TAS	21473899
GO:0048709	Process	Oligodendrocyte differentiation	IDA	18042622
GO:0048813	Process	Dendrite morphogenesis	IEA
GO:0050321	Function	Tau-protein kinase activity	ISS
GO:0050321	Function	Tau-protein kinase activity	NAS	28386764
GO:0051301	Process	Cell division	IEA
GO:0051402	Process	Neuron apoptotic process	IBA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051402	Process	Neuron apoptotic process	TAS	21473899
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0051726	Process	Regulation of cell cycle	TAS	21473899
GO:0051879	Function	Hsp90 protein binding	IEA
GO:0051966	Process	Regulation of synaptic transmission, glutamatergic	IEA
GO:0051966	Process	Regulation of synaptic transmission, glutamatergic	ISS
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0061001	Process	Regulation of dendritic spine morphogenesis	IEA
GO:0061001	Process	Regulation of dendritic spine morphogenesis	ISS
GO:0070509	Process	Calcium ion import	IEA
GO:0090314	Process	Positive regulation of protein targeting to membrane	IEA
GO:0098793	Component	Presynapse	IEA
GO:0099533	Process	Positive regulation of presynaptic cytosolic calcium concentration	ISS
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1901987	Process	Regulation of cell cycle phase transition	IBA
GO:1903076	Process	Regulation of protein localization to plasma membrane	IEA
GO:1903076	Process	Regulation of protein localization to plasma membrane	ISS
GO:1903234	Process	Negative regulation of calcium ion-dependent exocytosis of neurotransmitter	ISS
GO:1903421	Process	Regulation of synaptic vesicle recycling	NAS	22745285
GO:1904646	Process	Cellular response to amyloid-beta	ISS

Other IDs

• MIM: 123831
• HGNC: 1774
• e!Ensembl: ENSG00000164885

Protein

• UniProt ID: Q00535
• Protein name: Cyclin-dependent kinase 5 (EC 2.7.11.1) (Cell division protein kinase 5) (Cyclin-dependent-like kinase 5) (Serine/threonine-protein kinase PSSALRE) (Tau protein kinase II catalytic subunit) (TPKII catalytic subunit)
• Protein function: Proline-directed serine/threonine-protein kinase essential for neuronal cell cycle arrest and differentiation and may be involved in apoptotic cell death in neuronal diseases by triggering abortive cell cycle re-entry. Interacts with D1 and D3-t
• PDB: 1H4L, 1UNG, 1UNH, 1UNL, 3O0G, 4AU8, 7VDP, 7VDQ, 7VDR, 7VDS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	4 → 286	Protein kinase domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: [Isoform 1]: Ubiquitously expressed (PubMed:17009320, PubMed:19693690). Accumulates in cortical neurons (at protein level) (PubMed:17009320). {ECO:0000269|PubMed:17009320, ECO:0000269|PubMed:19693690}.; TISSUE SPECIFICITY: [Isoform 2]:
• Sequence:

  MQKYEKLEKIGEGTYGTVFKAKNRETHEIVALKRVRLDDDDEGVPSSALREICLLKELKH
  KNIVRLHDVLHSDKKLTLVFEFCDQDLKKYFDSCNGDLDPEIVKSFLFQLLKGLGFCHSR
  NVLHRDLKPQNLLINRNGELKLADFGLARAFGIPVRCYSAEVVTLWYRPPDVLFGAKLYS
  TSIDMWSAGCIFAELANAGRPLFPGNDVDDQLKRIFRLLGTPTEEQWPSMTKLPDYKPYP
  MYPATTSLVNVVPKLNATGRDLLQNLLKCNPVQRISAEEALQHPYFSDFCPP

• Sequence length: 292

Pathways

KEGG:

Axon guidance
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Cocaine addiction

Reactome:

DARPP-32 events
CRMPs in Sema3A signaling
Regulation of TP53 Activity through Phosphorylation
Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Colon adenocarcinoma	Likely pathogenic	rs2486426172	RCV005927744	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lissencephaly 7 with cerebellar hypoplasia	Pathogenic; Likely pathogenic	rs786205164, rs2486426172	RCV000170351 RCV004584568	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CDK5-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY WITH CEREBELLAR HYPOPLASIA	—	ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31363080		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	27463676		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agyria	Agyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	12230554, 12826674, 12860412, 19534817, 19615060, 20513426, 23377270, 25851605, 27343180, 29027727, 29948941, 29997370, 30016411, 36561735, 39773760	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	15917097		★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	28420695		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	28785201, 30124150, 31379559, 31403945		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	12657672, 15135890, 17354000, 18397603, 22262900, 26166569, 26756888, 9596352		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	21825040		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	31060804		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	31060804		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	23941877		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	22753194		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	11228158		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	22753194		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	28754891	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	28754891, 31352739		★☆☆☆☆ Found in Text Mining only
Auditory Perceptual Disorders	Auditory perceptual disorder	Pubtator	28754891	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	26285919		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	36039581	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Microcephaly	BEFREE	21327915, 26322982		★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	28420695		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	38200156	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	38200156	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	17493033		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	17493033	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	27917404		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19075597, 24121667, 25827073, 29348461		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24121667, 25096995, 26237679, 32352232, 37682166	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22696682, 24121667, 26205145, 26339373, 26555036	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	22696682	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	31496920		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33023330, 34925377, 36995937	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18391978, 19343042, 22696682, 26018459, 28842255, 30410599, 31793458		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	21825040, 33960694	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31311512, 37024096, 39273671	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	26555036	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	26146988		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	28420695		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	17493033	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	28254431		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	17493033, 24098701, 30158515, 31595208		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	19764350, 26698249, 31266812		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	19764350, 26698249, 31266812		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	27463676		★☆☆☆☆ Found in Text Mining only
Cholesteatoma Middle Ear	Middle ear cholesteatoma	Pubtator	34875451	Associate	★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	30187339		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	29312535		★☆☆☆☆ Found in Text Mining only
Classical Lissencephaly	Lissencephaly	BEFREE	28854363		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	21544067, 27506619, 31689375		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	16327995, 28827110		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	37039746	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27735944, 29435174, 31614664		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27735944, 37039746	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31311512		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	29729246		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31060804		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31689375		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	17979810, 31689375		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19718565, 30728419	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	18598350, 19718565, 21378178, 21611789, 21841312, 21908934, 26119585, 29056962, 30217452, 30728419		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	27145370		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	28640256		★☆☆☆☆ Found in Text Mining only
Disruptive Impulse Control and Conduct Disorders	Disruptive, impulse control, and conduct disorders	Pubtator	28754891	Associate	★☆☆☆☆ Found in Text Mining only
Embolism, Tumor	Embolism	BEFREE	29312535		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28595035, 28639593, 31699822		★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	27053712		★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia	Focal cortical dysplasia	BEFREE	18075258		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	28912154		★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	12200628		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	11296485, 33924599, 39849652	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25827073, 31488827		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25827073, 31488827		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	22829587, 26205145	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29742423		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	28064242		★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	30733969	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	29076761		★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	25560765		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	15911879, 17611284, 22741533, 24879856, 29288339, 31060804		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	LHGDN	17611284		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	31689375		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	24098701	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	21544067, 27506619, 29141245, 29288339, 29867369, 31689375		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	26469698, 26657932		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	26944284, 28045138, 28502042		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	31311512	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	21145489		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	21145489	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	35514210	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	31098000		★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA	Lissencephaly with cerebellar hypoplasia	GENOMICS_ENGLAND_DG	25560765		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA	Lissencephaly with cerebellar hypoplasia	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA	Lissencephaly with cerebellar hypoplasia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Liver carcinoma	Liver carcinoma	BEFREE	21385901, 25660209, 27027353, 29312535, 30033593, 31272499		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	29312535		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	22696682, 26555036, 26860827	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26339373, 26860827	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27406233	Stimulate	★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	24548080		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	26057048		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	12796778, 28854363		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19075597, 24121667, 25827073, 29348461		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	31311512		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18391978, 19343042, 22696682, 26018459, 28842255, 30410599, 31793458		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	26146988		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	20484029, 21825040, 31467029		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15123618, 16885348, 21799006, 23941877, 25851605, 29511352, 30367578, 31395805, 31439587		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25609066, 28373767, 30431123, 30519346		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	17145757, 23941877		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20181942, 21791703, 21799006, 24121667, 25609066, 25660209, 25928429, 26146988, 26690371, 27917404, 28222068, 28288624, 29076761, 29348461, 30217452, 30367578, 31718704, 31793458		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	19764350, 26698249, 31266812		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	16327995, 28827110		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	17145757, 25900242		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	27463676		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	34795058	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	27917404		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31060804		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	26469698		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	24793790		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	25738451		★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	25878277		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	15009685		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	21289309, 28351297		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	21289309, 28351297	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	17493033	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	26339373	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30621723		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16327995, 17145757, 20516069, 23941877, 24121667, 25609066, 25900242, 26018459, 26146988, 26555036, 26690371, 27463676, 27735944, 28222068, 28323497, 28640256, 28842255, 30410599, 30864700, 31266812, 31272499, 31496920, 31614664, 31793458		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	31488827		★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	BEFREE	27053712		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	21338355, 21740229, 24879856, 28977037, 29031852, 29867369, 30618612, 31073393		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11578751, 15485494, 18947885, 25246152, 30911317		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	15485494, 17156427, 33384420	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	12230554, 14704484, 19534817, 27343180, 30016411, 30209341	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	11801324, 12064478, 15135890, 15194121, 17979810, 18480410, 19075597, 21415596, 21740229, 21844361, 22228754, 22262900, 26057048, 26657932, 27343180, 28085018, 28358580, 28639593, 28912154, 29076761, 29227343, 29288339, 29301548, 29435174, 29910724, 30124150, 30605670, 30856110, 31073393, 31256130, 31804596		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	16525053		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	19343042, 26018459, 31496920		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	20651683		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	37555665	Associate	★☆☆☆☆ Found in Text Mining only
Optic Neuropathy	Optic Neuropathy	BEFREE	30537069		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	20181942, 28323497		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	26146988		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32588513	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	20484029, 21825040		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	21825040, 31467029		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21825040, 28052097, 28242758, 31467029, 33960694	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	17327227, 19638632, 21130530, 22262900, 25104559, 28045138, 28078567, 28528366, 28717189, 29111393, 29571747, 29910724, 31028828, 31308800, 31707035, 31787240		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	19050041, 35182267, 40594234	Associate	★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	28912154		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	27438154	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	27053712		★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	LHGDN	11865137		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15123618, 16885348, 21799006, 23941877, 25851605, 29511352, 30367578, 31395805, 31439587		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15123618		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24841903, 24851929, 25851605, 30367578	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	16029324		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	31311512		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	27145370		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	10544291, 12657672		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	21772061		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	21772061		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	26860827	Stimulate	★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	25878277, 27557711		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35143052	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	26690371		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	28153522, 29024678		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25609066, 28373767, 30431123, 30519346		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	30431123	Inhibit	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28373767, 30431123	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	17493033, 24098701	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	29535807		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	23737518, 28912154		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	CTD_human_DG	26945731		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	30977211	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	30733969, 31001336		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	17145757, 23941877		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	17145757, 23941877		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	17145757		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	40304806	Associate	★☆☆☆☆ Found in Text Mining only
Timothy syndrome	Timothy Syndrome	BEFREE	28648896		★☆☆☆☆ Found in Text Mining only
Transient Cerebral Ischemia	Cerebral Ischemia	BEFREE	31506563		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	31506563		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	37569854	Associate	★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	26057048		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	27406233	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	31266812	Associate	★☆☆☆☆ Found in Text Mining only
X-Linked Lissencephaly	Lissencephaly, X-Linked	BEFREE	10826984		★☆☆☆☆ Found in Text Mining only