GABRD (gamma-aminobutyric acid type A receptor subunit delta)

Gene

• Entrez ID: 2563
• Gene name: Gamma-aminobutyric acid type A receptor subunit delta
• Gene symbol: GABRD
• Synonyms (NCBI Gene): EIG10, EJM7, GABAARdelta, GEFSP5
• Chromosome: 1
• Chromosome location: 1p36.33
• Summary: Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiaz

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41307846	G>A	Benign, likely-benign, risk-factor	Coding sequence variant, missense variant
rs121434580	A>C	Risk-factor	Missense variant, coding sequence variant
rs147463074	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs368961588	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004890	Function	GABA-A receptor activity	IBA
GO:0004890	Function	GABA-A receptor activity	IEA
GO:0004890	Function	GABA-A receptor activity	TAS	2176788
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005230	Function	Extracellular ligand-gated monoatomic ion channel activity	IEA
GO:0005254	Function	Chloride channel activity	IBA
GO:0005254	Function	Chloride channel activity	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 32296183
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	2176788
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0007165	Process	Signal transduction	TAS	2176788
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IDA	35355020
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	ISS
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	NAS	28528665
GO:0007267	Process	Cell-cell signaling	IEA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0016020	Component	Membrane	IEA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0051932	Process	Synaptic transmission, GABAergic	IBA
GO:0051932	Process	Synaptic transmission, GABAergic	NAS	28528665, 35355020
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902476	Process	Chloride transmembrane transport	IDA	35355020
GO:1902476	Process	Chloride transmembrane transport	NAS	28528665
GO:1902711	Component	GABA-A receptor complex	IBA
GO:1902711	Component	GABA-A receptor complex	IEA
GO:1902711	Component	GABA-A receptor complex	IPI	35355020
GO:1902711	Component	GABA-A receptor complex	ISS
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA

Other IDs

• MIM: 137163
• HGNC: 4084
• e!Ensembl: ENSG00000187730

Protein

• UniProt ID: O14764
• Protein name: Gamma-aminobutyric acid receptor subunit delta (GABA(A) receptor subunit delta) (GABAAR subunit delta)
• Protein function: Delta subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:35355020). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR),
• PDB: 7QN5, 7QN6, 7QN7, 7QN8, 7QN9, 7QNC, 7QND
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02931	Neur_chan_LBD	43 → 247	Neurotransmitter-gated ion-channel ligand binding domain	Family
  PF02932	Neur_chan_memb	254 → 408	Neurotransmitter-gated ion-channel transmembrane region	Family

• Sequence:

  MDAPARLLAPLLLLCAQQLRGTRAMNDIGDYVGSNLEISWLPNLDGLIAGYARNFRPGIG
  GPPVNVALALEVASIDHISEANMEYTMTVFLHQSWRDSRLSYNHTNETLGLDSRFVDKLW
  LPDTFIVNAKSAWFHDVTVENKLIRLQPDGVILYSIRITSTVACDMDLAKYPMDEQECML
  DLESYGYSSEDIVYYWSESQEHIHGLDKLQLAQFTITSYRFTTELMNFKSAGQFPRLSLH
  FHLRRNRGVYIIQSYMPSVLLVAMSWVSFWISQAAVPARVSLGITTVLTMTTLMVSARSS
  LPRASAIKALDVYFWICYVFVFAALVEYAFAHFNADYRKKQKAKVKVSRPRAEMDVRNAI
  VLFSLSAAGVTQELAISRRQRRVPGNLMGSYRSVGVETGETKKEGAARSGGQGGIRARLR
  PIDADTIDIYARAVFPAAFAAVNVIYWAAYAM

• Sequence length: 452

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Retrograde endocannabinoid signaling
GABAergic synapse
Morphine addiction
Nicotine addiction

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
Epilepsy, idiopathic generalized, susceptibility to, 10	Pathogenic; Likely pathogenic	rs1659014112, rs2525640747	RCV002470247 RCV005870078	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GABRD-Related Disorders	Likely pathogenic	rs2525640747	RCV006269801	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Idiopathic generalized epilepsy	Likely pathogenic	rs2525644185	RCV002979282	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
1P36 DELETION SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHROMOSOME 1P36 DELETION SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EEG abnormality	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, IDIOPATHIC GENERALIZED	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic encephalopathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial pancreatic carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GABRD-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized epilepsy with febrile seizures plus type 5	risk factor; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC EPILEPSY WITH FEBRILE SEIZURE PLUS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE MYOCLONIC EPILEPSY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
1p36 deletion syndrome	1p36 deletion syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	33187258	Associate	★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aneurysm of aortic arch	Aneurysm Of Aortic Arch	HPO_DG			★☆☆☆☆ Found in Text Mining only
Annular pancreas	Annular pancreas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	24249596, 25124326		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	25124326	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	31279243	Associate	★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34194536	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chromosome 1p36 Deletion Syndrome	1p36 Deletion Syndrome	ORPHANET_DG	22766398		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft Palate	Cleft palate	Pubtator	34382870	Associate	★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	37181811	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32396280	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34194536	Stimulate	★☆☆☆☆ Found in Text Mining only
Complex partial seizure with impairment of consciousness	Dyscognitive seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of neck	Congenital Anomaly Of Neck	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital fusion of ribs	Rib fusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	25124326		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	34633442	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	15115768, 16538090, 25124326, 25194483		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	31056551, 34633442, 38458029	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy Absence	Absence epilepsy	Pubtator	34633442	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Complex Partial	Complex partial epilepsy	Pubtator	16452673	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Generalized	Generalized epilepsy	Pubtator	16452673, 34633442	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	16452673	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	15115768		★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	38458029	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	BEFREE	20308251		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	16256272, 20308251		★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	17046729		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized Epilepsy with Febrile Seizures Plus	Generalized Epilepsy With Febrile Seizures Plus	BEFREE	15115768, 16525050, 20308251		★☆☆☆☆ Found in Text Mining only
Generalized Epilepsy with Febrile Seizures Plus	Generalized Epilepsy With Febrile Seizures Plus	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Generalized epilepsy with febrile seizures-plus	Epilepsy With Febrile Seizures Plus	Orphanet			★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31545245, 33969375	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	20308251		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	34633442	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	20308251, 29785705		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	ORPHANET_DG	23756480		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile myoclonic epilepsy	Myoclonic Epilepsy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	20561060		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	20561060		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood disorder	Pubtator	20561060	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mouth Abnormalities	Mouth Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy Juvenile	Myoclonic epilepsy	Pubtator	16452673	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31545245		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	25124326	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obtundation status	Obtundation status	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Photosensitive tonic-clonic seizures	Photosensitive tonic-clonic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	25156961		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	CTD_human_DG	18923069		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	33969375	Stimulate	★☆☆☆☆ Found in Text Mining only
Seizures Febrile	Seizures	Pubtator	16452673	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only