GRIK5 (glutamate ionotropic receptor kainate type subunit 5)

Gene

• Entrez ID: 2901
• Gene name: Glutamate ionotropic receptor kainate type subunit 5
• Gene symbol: GRIK5
• Synonyms (NCBI Gene): EAA2, GRIK2, GluK5, KA2
• Chromosome: 19
• Chromosome location: 19q13.2
• Summary: This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT045128	hsa-miR-186-5p	CLASH	23622248
MIRT515221	hsa-miR-126-5p	PAR-CLIP	23446348
MIRT515220	hsa-miR-4795-3p	PAR-CLIP	23446348
MIRT515221	hsa-miR-126-5p	PAR-CLIP	23446348
MIRT515220	hsa-miR-4795-3p	PAR-CLIP	23446348
MIRT2006796	hsa-miR-3150a-3p	CLIP-seq
MIRT2006797	hsa-miR-3175	CLIP-seq
MIRT2006798	hsa-miR-4274	CLIP-seq
MIRT2006799	hsa-miR-4293	CLIP-seq
MIRT2006800	hsa-miR-4468	CLIP-seq
MIRT2006801	hsa-miR-939	CLIP-seq
MIRT2450777	hsa-miR-4632	CLIP-seq
MIRT2450778	hsa-miR-572	CLIP-seq
MIRT2450779	hsa-miR-718	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004970	Function	Glutamate-gated receptor activity	IDA	8730589, 14511640
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	14511640
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0007215	Process	Glutamate receptor signaling pathway	IEA
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	IEA
GO:0015277	Function	Kainate selective glutamate receptor activity	IBA
GO:0015277	Function	Kainate selective glutamate receptor activity	IDA	1321949
GO:0015277	Function	Kainate selective glutamate receptor activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0031630	Process	Regulation of synaptic vesicle fusion to presynaptic active zone membrane	IEA
GO:0032983	Component	Kainate selective glutamate receptor complex	IBA
GO:0032983	Component	Kainate selective glutamate receptor complex	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0035235	Process	Ionotropic glutamate receptor signaling pathway	IEA
GO:0035249	Process	Synaptic transmission, glutamatergic	IBA
GO:0035249	Process	Synaptic transmission, glutamatergic	IEA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042734	Component	Presynaptic membrane	IBA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IBA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0098686	Component	Hippocampal mossy fiber to CA3 synapse	IEA
GO:0098839	Component	Postsynaptic density membrane	IBA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0099505	Process	Regulation of presynaptic membrane potential	IEA
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IDA	18562611, 20026616
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IEA
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IMP	18562611, 20026616
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	NAS	18562611, 20026616
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IBA
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA

Other IDs

• MIM: 600283
• HGNC: 4583
• e!Ensembl: ENSG00000105737

Protein

• UniProt ID: Q16478
• Protein name: Glutamate receptor ionotropic, kainate 5 (GluK5) (Excitatory amino acid receptor 2) (EAA2) (Glutamate receptor KA-2) (KA2)
• Protein function: Ionotropic glutamate receptor that functions as a cation-permeable ligand-gated ion channel, gated by L-glutamate and the glutamatergic agonist kainic acid. Cannot form functional channels on its own and produces channel activity only in heterom
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01094	ANF_receptor	39 → 384	Receptor family ligand binding region	Family
  PF10613	Lig_chan-Glu_bd	415 → 529	Ligated ion channel L-glutamate- and glycine-binding site	Domain
  PF00060	Lig_chan	543 → 815	Ligand-gated ion channel	Family

• Sequence:

  MPAELLLLLIVAFASPSCQVLSSLRMAAILDDQTVCGRGERLALALAREQINGIIEVPAK
  ARVEVDIFELQRDSQYETTDTMCQILPKGVVSVLGPSSSPASASTVSHICGEKEIPHIKV
  GPEETPRLQYLRFASVSLYPSNEDVSLAVSRILKSFNYPSASLICAKAECLLRLEELVRG
  FLISKETLSVRMLDDSRDPTPLLKEIRDDKVSTIIIDANASISHLILRKASELGMTSAFY
  KYILTTMDFPILHLDGIVEDSSNILGFSMFNTSHPFYPEFVRSLNMSWRENCEASTYLGP
  ALSAALMFDAVHVVVSAVRELNRSQEIGVKPLACTSANIWPHGTSLMNYLRMVEYDGLTG
  RVEFNSKGQRTNYTLRILEKSRQGHREIGVWYSNRTLAMNATTLDINLSQTLANKTLVVT
  TILENPYVMRRPNFQALSGNERFEGFCVDMLRELAELLRFRYRLRLVEDGLYGAPEPNGS
  WTGMVGELINRKADLAVAAFTITAEREKVIDFSKPFMTLGISILYRVHMGRKPGYFSFLD
  PFSPAVWLFMLLAYLAVSCVLFLAARLSPYEWYNPHPCLRARPHILENQYTLGNSLWFPV
  GGFMQQGSEIMPRALSTRCVSGVWWAFTLIIISSYTANLAAFLTVQRMEVPVESADDLAD
  QTNIEYGTIHAGSTMTFFQNSRYQTYQRMWNYMQSKQPSVFVKSTEEGIARVLNSRYAFL
  LESTMNEYHRRLNCNLTQIGGLLDTKGYGIGMPLGSPFRDEITLAILQLQENNRLEILKR
  KWWEGGRCPKEEDHRAKGLGMENIGGIFIVLICGLIIAVFVAVMEFIWSTRRSAESEEVS
  VCQEMLQELRHAVSCRKTSRSRRRRRPGGPSRALLSLRAVREMRLSNGKLYSAGAGGDAG
  SAHGGPQRLLDDPGPPSGARPAAPTPCTHVRVCQECRRIQALRASGAGAPPRGLGVPAEA
  TSPPRPRPGPAGPRELAEHE

• Sequence length: 980

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Glutamatergic synapse

Reactome:

Activation of Ca-permeable Kainate Receptor

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BIPOLAR DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRIK5-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	15205317		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	24311777	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	30738099		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	21996756, 22543975, 36340933	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	17428563, 17712621, 31132842		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	11920157, 15094479, 15305151, 15389769, 17167233, 17712621, 20442744, 20863077		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	LHGDN	11920157, 17167233, 17712621		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	11920157, 20442744		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	11920157, 20442744, 31844109	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	19407332		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	17299517, 18332879, 19086053, 19407332		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	CTD_human_DG	18332879		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	19407332		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	21771265, 28751646, 31631587	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bohring syndrome	Bohring syndrome	Pubtator	39614348	Associate	★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	21984433		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	25201974		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30705370		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30705370	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	21984433		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	28418868		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30705370	Associate	★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	19610093, 29193067		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	34580524	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29527240		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	30498132, 33154391	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30705370	Associate	★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	34375587	Associate	★☆☆☆☆ Found in Text Mining only
Depression, Bipolar	Bipolar Disorder	CTD_human_DG	18332879		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	22534499		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	34341332	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	34375587	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	23037145		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	30827500		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	28935853	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28161868, 29193067, 30908586		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	34375587	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	22698689	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	7675232		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	11442354		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Esophagitis	Esotropia	Pubtator	32132452	Associate	★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	21912186	Inhibit	★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	21912186	Associate	★☆☆☆☆ Found in Text Mining only
Frigidity	Frigidity	CTD_human_DG	19295509		★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	30705370	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	33969375	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	24449200		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemimegalencephaly	Hemimegalencephaly	Pubtator	15571509	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	10522893, 12821179, 16847693, 16959037, 17018562, 22771793, 26148071, 9108071		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	16959037, 17018562, 26148071, 9108071	Associate	★☆☆☆☆ Found in Text Mining only
Hypoactive Sexual Desire Disorder	Hypoactive Sexual Desire Disorder	CTD_human_DG	19295509		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	17847003		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	LHGDN	17847003		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	17847003, 31844109, 34375587	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	25201974		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	39614348	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30705370		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19824040		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	CTD_human_DG	18332879		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	BEFREE	31631587		★☆☆☆☆ Found in Text Mining only
Manic Disorder	Manic Disorder	CTD_human_DG	18332879		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	36553569	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	22534499		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	30770891		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	17847003		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6	Mental retardation	GENOMICS_ENGLAND_DG	17847003		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6	Mental retardation	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	21984433, 27510426		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	PSYGENET_DG	21984433		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19824040, 28418868		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	29540547		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	15094479, 20370803, 29540547		★☆☆☆☆ Found in Text Mining only
Orgasmic Disorder	Orgasmic Disorder	CTD_human_DG	19295509		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30587499, 30705370	Associate	★☆☆☆☆ Found in Text Mining only
Paraparesis Tropical Spastic	Tropical spastic paraparesis	Pubtator	34446027	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	31823283	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	BEFREE	25316086		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	17712621, 31132842		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	15205317		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25238935, 34417538	Associate	★☆☆☆☆ Found in Text Mining only
Psychosexual Disorders	Psychosexual Disorders	CTD_human_DG	19295509		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29527240	Associate	★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	12467946, 15305151, 16325263, 27733539, 8942465, 9099808		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	15305151		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	CTD_human_DG	18923069		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	31844109	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sexual Arousal Disorder	Sexual Arousal Disorder	CTD_human_DG	19295509		★☆☆☆☆ Found in Text Mining only
Sexual Dysfunction	Sexual Dysfunction	BEFREE	22534499		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	22143938		★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19824040		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	11920157		★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	28418868		★☆☆☆☆ Found in Text Mining only