GRID2 (glutamate ionotropic receptor delta type subunit 2)

Gene

• Entrez ID: 2895
• Gene name: Glutamate ionotropic receptor delta type subunit 2
• Gene symbol: GRID2
• Synonyms (NCBI Gene): GluD2, SCAR18
• Chromosome: 4
• Chromosome location: 4q22.1-q22.2
• Summary: The protein encoded by this gene is a member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. The encoded protein is a multi-pass membrane protein that is expressed sel

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs368143665	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs750331613	C>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1560556892	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1579319300	C>T	Likely-pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT557466	hsa-miR-448	PAR-CLIP	21572407
MIRT518601	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT518600	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT518599	hsa-miR-3924	PAR-CLIP	21572407
MIRT518601	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT518600	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT518599	hsa-miR-3924	PAR-CLIP	23446348
MIRT557466	hsa-miR-448	PAR-CLIP	21572407
MIRT518601	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT518600	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT518599	hsa-miR-3924	PAR-CLIP	21572407
MIRT518601	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT518600	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT518599	hsa-miR-3924	PAR-CLIP	23446348

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004971	Function	AMPA glutamate receptor activity	IBA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005515	Function	Protein binding	IPI	27418511
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	9465309
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IEA
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	ISS
GO:0007215	Process	Glutamate receptor signaling pathway	TAS	9465309
GO:0008066	Function	Glutamate receptor activity	TAS	9465309
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008104	Process	Intracellular protein localization	ISS
GO:0008328	Component	Ionotropic glutamate receptor complex	IEA
GO:0008328	Component	Ionotropic glutamate receptor complex	ISS
GO:0010975	Process	Regulation of neuron projection development	IEA
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0021707	Process	Cerebellar granule cell differentiation	IEA
GO:0021707	Process	Cerebellar granule cell differentiation	ISS
GO:0030165	Function	PDZ domain binding	IEA
GO:0030165	Function	PDZ domain binding	ISS
GO:0032281	Component	AMPA glutamate receptor complex	IBA
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:0035249	Process	Synaptic transmission, glutamatergic	ISS
GO:0036477	Component	Somatodendritic compartment	IEA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0043197	Component	Dendritic spine	IBA
GO:0043197	Component	Dendritic spine	IEA
GO:0043197	Component	Dendritic spine	ISS
GO:0043523	Process	Regulation of neuron apoptotic process	IEA
GO:0043523	Process	Regulation of neuron apoptotic process	ISS
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	ISS
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048167	Process	Regulation of synaptic plasticity	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IBA
GO:0051963	Process	Regulation of synapse assembly	IEA
GO:0051965	Process	Positive regulation of synapse assembly	IMP	27418511
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0060079	Process	Excitatory postsynaptic potential	ISS
GO:0060134	Process	Prepulse inhibition	IEA
GO:0060134	Process	Prepulse inhibition	ISS
GO:0097110	Function	Scaffold protein binding	IEA
GO:0097110	Function	Scaffold protein binding	ISS
GO:0098688	Component	Parallel fiber to Purkinje cell synapse	IEA
GO:0098820	Component	Trans-synaptic protein complex	IDA	27418511
GO:0098839	Component	Postsynaptic density membrane	IBA
GO:0098839	Component	Postsynaptic density membrane	IDA	24357660
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099072	Process	Regulation of postsynaptic membrane neurotransmitter receptor levels	IEA
GO:0099151	Process	Regulation of postsynaptic density assembly	IEA
GO:0099538	Process	Synaptic signaling via neuropeptide	IDA	24357660
GO:0099538	Process	Synaptic signaling via neuropeptide	IEA
GO:1900454	Process	Positive regulation of long-term synaptic depression	IMP	27418511
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	IDA	24357660
GO:1904861	Process	Excitatory synapse assembly	IMP	27418511
GO:1905606	Process	Regulation of presynapse assembly	IEA

Other IDs

• MIM: 602368
• HGNC: 4576
• e!Ensembl: ENSG00000152208

Protein

• UniProt ID: O43424
• Protein name: Glutamate receptor ionotropic, delta-2 (GluD2) (GluR delta-2 subunit)
• Protein function: Member of the ionotropic glutamate receptor family, which plays a crucial role in synaptic organization and signal transduction in the central nervous system. Although it shares structural features with ionotropic glutamate receptors, does not b
• PDB: 5KC8, 5KCA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01094	ANF_receptor	39 → 407	Receptor family ligand binding region	Family
  PF10613	Lig_chan-Glu_bd	441 → 553	Ligated ion channel L-glutamate- and glycine-binding site	Domain
  PF00060	Lig_chan	566 → 842	Ligand-gated ion channel	Family

• Sequence:

  MEVFPFLLVLSVWWSRTWDSANADSIIHIGAIFDESAKKDDEVFRTAVGDLNQNEEILQT
  EKITFSVTFVDGNNPFQAVQEACELMNQGILALVSSIGCTSAGSLQSLADAMHIPHLFIQ
  RSTAGTPRSGCGLTRSNRNDDYTLSVRPPVYLHDVILRVVTEYAWQKFIIFYDSEYDIRG
  IQEFLDKVSQQGMDVALQKVENNINKMITTLFDTMRIEELNRYRDTLRRAILVMNPATAK
  SFITEVVETNLVAFDCHWIIINEEINDVDVQELVRRSIGRLTIIRQTFPVPQNISQRCFR
  GNHRISSTLCDPKDPFAQNMEISNLYIYDTVLLLANAFHKKLEDRKWHSMASLSCIRKNS
  KPWQGGRSMLETIKKGGVSGLTGELEFGENGGNPNVHFEILGTNYGEELGRGVRKLGCWN
  PVTGLNGSLTDKKLENNMRGVVLRVVTVLEEPFVMVSENVLGKPKKYQGFSIDVLDALSN
  YLGFNYEIYVAPDHKYGSPQEDGTWNGLVGELVFKRADIGISALTITPDRENVVDFTTRY
  MDYSVGVLLRRAEKTVDMFACLAPFDLSLWACIAGTVLLVGLLVYLLNWLNPPRLQMGSM
  TSTTLYNSMWFVYGSFVQQGGEVPYTTLATRMMMGAWWLFALIVISSYTANLAAFLTITR
  IESSIQSLQDLSKQTEIPYGTVLDSAVYEHVRMKGLNPFERDSMYSQMWRMINRSNGSEN
  NVLESQAGIQKVKYGNYAFVWDAAVLEYVAINDPDCSFYTIGNTVADRGYGIALQHGSPY
  RDVFSQRILELQQNGDMDILKHKWWPKNGQCDLYSSVDTKQKGGALDIKSFAGVFCILAA
  GIVLSCFIAMLETWWNKRKGSRVPSKEDDKEIDLEHLHRRVNSLCTDDDSPHKQFSTSSI
  DLTPLDIDTLPTRQALEQISDFRNTHITTTTFIPEQIQTLSRTLSAKAASGFTFGNVPEH
  RTGPFRHRAPNGGFFRSPIKTMSSIPYQPTPTLGLNLGNDPDRGTSI

• Sequence length: 1007

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Long-term depression

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
Autosomal recessive spinocerebellar ataxia 18	Likely pathogenic; Pathogenic	rs2546697844, rs750331613, rs368143665, rs1579319300, rs1732687174	RCV003228820 RCV000490816 RCV000578455 RCV000985204 RCV001195712	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATAXIA, SPINOCEREBELLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO GRID2 DEFICIENCY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRID2-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIAS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	39684939	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	28628100, 29207948	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	27019035		★☆☆☆☆ Found in Text Mining only
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency	Congenital Cerebellar Ataxia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain atrophy	Brain atrophy	BEFREE	29207948		★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	29207948	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23884293	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	24078737		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	BEFREE	29207948		★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	29207948	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	29207948		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	19683518		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Congenital cerebellar ataxia	Congenital Cerebellar Ataxia	BEFREE	25841024		★☆☆☆☆ Found in Text Mining only
Deficiency of mevalonate kinase	Deficiency Of Mevalonate Kinase	BEFREE	25146332		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	39684939	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29207948	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31400387		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31400387		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	33577492	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28246062		★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30314897		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	38150033	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30314897		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	BEFREE	25225364, 29097607		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	33969375, 38150033	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	BEFREE	29207948, 31625608		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Horizontal Nystagmus	Horizontal nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	35159210	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	22238647	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	38150033	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	GWASDB_DG	20852631		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23884293, 29146184, 30314897		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25225364, 27422263		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	30045961		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	29207948	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus, End-Position	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteonecrosis	Osteonecrosis	Pubtator	26590194	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	34335109	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	19826450, 21420458, 23463419		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	19826450, 36593912	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	37344884	Associate	★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	BEFREE	25841024		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28403887	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	25122145		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	9674910		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28696429		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma Systemic	Systemic sclerosis	Pubtator	39684939	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	24122788		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 4	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 5	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18	Spinocerebellar Ataxia	GENOMICS_ENGLAND_DG	20395510, 25841024		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18	Spinocerebellar Ataxia	ORPHANET_DG	23611888		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18	Spinocerebellar Ataxia	UNIPROT_DG	23611888, 24078737, 25841024, 27418511		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18	Spinocerebellar Ataxia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	37964339	Associate	★☆☆☆☆ Found in Text Mining only