PRKRA (protein activator of interferon induced protein kinase EIF2AK2)

Gene

• Entrez ID: 8575
• Gene name: Protein activator of interferon induced protein kinase EIF2AK2
• Gene symbol: PRKRA
• Synonyms (NCBI Gene): DYT16, HSD14, PACT, RAX
• Chromosome: 2
• Chromosome location: 2q31.2
• Summary: This gene encodes a protein kinase activated by double-stranded RNA which mediates the effects of interferon in response to viral infection. Mutations in this gene have been associated with dystonia. Alternative splicing results in multiple transcript var

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs730880307	AT>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006123	hsa-miR-122-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21937511
MIRT006123	hsa-miR-122-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21937511
MIRT006128	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	21935352
MIRT006128	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	21935352
MIRT006123	hsa-miR-122-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21937511
MIRT006123	hsa-miR-122-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21937511
MIRT006128	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	21935352
MIRT006128	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	21935352
MIRT006123	hsa-miR-122-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21937511
MIRT006123	hsa-miR-122-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21937511
MIRT006128	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	21935352
MIRT006128	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	21935352
MIRT1263682	hsa-miR-3065-5p	CLIP-seq
MIRT1263683	hsa-miR-495	CLIP-seq
MIRT2077602	hsa-miR-340	CLIP-seq
MIRT2077603	hsa-miR-561	CLIP-seq
MIRT2601131	hsa-miR-1179	CLIP-seq
MIRT2601132	hsa-miR-122	CLIP-seq
MIRT2601133	hsa-miR-127-5p	CLIP-seq
MIRT2601134	hsa-miR-1276	CLIP-seq
MIRT1263682	hsa-miR-3065-5p	CLIP-seq
MIRT2601135	hsa-miR-3134	CLIP-seq
MIRT2601136	hsa-miR-3150b-3p	CLIP-seq
MIRT2601137	hsa-miR-3617	CLIP-seq
MIRT2601138	hsa-miR-3659	CLIP-seq
MIRT2601139	hsa-miR-4534	CLIP-seq
MIRT2601140	hsa-miR-4689	CLIP-seq
MIRT2601141	hsa-miR-4709-3p	CLIP-seq
MIRT2601142	hsa-miR-4784	CLIP-seq
MIRT2601143	hsa-miR-4786-3p	CLIP-seq
MIRT1263683	hsa-miR-495	CLIP-seq
MIRT2601144	hsa-miR-516b	CLIP-seq
MIRT2601145	hsa-miR-520d-5p	CLIP-seq
MIRT2601146	hsa-miR-524-5p	CLIP-seq
MIRT2601147	hsa-miR-548n	CLIP-seq
MIRT2601148	hsa-miR-548t	CLIP-seq
MIRT2077603	hsa-miR-561	CLIP-seq
MIRT2601149	hsa-miR-621	CLIP-seq
MIRT2601150	hsa-miR-641	CLIP-seq
MIRT2601131	hsa-miR-1179	CLIP-seq
MIRT2601132	hsa-miR-122	CLIP-seq
MIRT2601133	hsa-miR-127-5p	CLIP-seq
MIRT2601134	hsa-miR-1276	CLIP-seq
MIRT1263682	hsa-miR-3065-5p	CLIP-seq
MIRT2601135	hsa-miR-3134	CLIP-seq
MIRT2601136	hsa-miR-3150b-3p	CLIP-seq
MIRT2601137	hsa-miR-3617	CLIP-seq
MIRT2601138	hsa-miR-3659	CLIP-seq
MIRT2601139	hsa-miR-4534	CLIP-seq
MIRT2601140	hsa-miR-4689	CLIP-seq
MIRT2601141	hsa-miR-4709-3p	CLIP-seq
MIRT2601142	hsa-miR-4784	CLIP-seq
MIRT2601143	hsa-miR-4786-3p	CLIP-seq
MIRT1263683	hsa-miR-495	CLIP-seq
MIRT2601144	hsa-miR-516b	CLIP-seq
MIRT2601145	hsa-miR-520d-5p	CLIP-seq
MIRT2601146	hsa-miR-524-5p	CLIP-seq
MIRT2601149	hsa-miR-621	CLIP-seq
MIRT2601150	hsa-miR-641	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003723	Function	RNA binding	IEA
GO:0003725	Function	Double-stranded RNA binding	IBA
GO:0003725	Function	Double-stranded RNA binding	IDA	23661684
GO:0003725	Function	Double-stranded RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	16424907, 16785445, 17452327, 18096616, 20064372, 21516116, 21858095, 21900206, 21903422, 21994455, 22810585, 23455922, 23661684, 23853584, 23870315, 25416956, 25910212, 28591694, 31515488, 32296183, 32707033, 33961781, 35075101, 36217029, 36217030
GO:0005634	Component	Nucleus	IBA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	22214662
GO:0005737	Component	Cytoplasm	IDA	17452327
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006955	Process	Immune response	TAS	9687506
GO:0008047	Function	Enzyme activator activity	TAS	9687506
GO:0008285	Process	Negative regulation of cell population proliferation	TAS	9687506
GO:0009615	Process	Response to virus	TAS	9687506
GO:0016020	Component	Membrane	HDA	19946888
GO:0016442	Component	RISC complex	IBA
GO:0019899	Function	Enzyme binding	IPI	23661684
GO:0030295	Function	Protein kinase activator activity	IDA	29170442
GO:0030422	Process	SiRNA processing	IBA
GO:0030422	Process	SiRNA processing	IDA	17452327
GO:0030422	Process	SiRNA processing	IEA
GO:0031047	Process	Regulatory ncRNA-mediated gene silencing	IEA
GO:0031054	Process	Pre-miRNA processing	IDA	16424907, 23661684
GO:0031054	Process	Pre-miRNA processing	IEA
GO:0034599	Process	Cellular response to oxidative stress	IEA
GO:0035196	Process	MiRNA processing	IDA	23661684
GO:0035197	Function	SiRNA binding	IBA
GO:0042473	Process	Outer ear morphogenesis	IEA
GO:0042474	Process	Middle ear morphogenesis	IEA
GO:0042802	Function	Identical protein binding	IPI	16169070, 21900206, 25416956, 32296183
GO:0042803	Function	Protein homodimerization activity	IPI	17452327
GO:0043583	Process	Ear development	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048705	Process	Skeletal system morphogenesis	IEA
GO:0050821	Process	Protein stabilization	IMP	16424907
GO:0070578	Component	RISC-loading complex	IBA
GO:0070578	Component	RISC-loading complex	IDA	23661684
GO:0070578	Component	RISC-loading complex	IEA
GO:0070578	Component	RISC-loading complex	IPI	23661684
GO:0070883	Function	Pre-miRNA binding	IDA	23661684
GO:0070883	Function	Pre-miRNA binding	IEA
GO:0070920	Process	Regulation of regulatory ncRNA processing	IBA
GO:0070922	Process	RISC complex assembly	IDA	23661684
GO:0070922	Process	RISC complex assembly	IEA
GO:0140374	Process	Antiviral innate immune response	IDA	26454002
GO:2001244	Process	Positive regulation of intrinsic apoptotic signaling pathway	IEA

Other IDs

• MIM: 603424
• HGNC: 9438
• e!Ensembl: ENSG00000180228

Protein

• UniProt ID: O75569
• Protein name: Interferon-inducible double-stranded RNA-dependent protein kinase activator A (PKR-associated protein X) (PKR-associating protein X) (Protein activator of the interferon-induced protein kinase) (Protein kinase, interferon-inducible double-stranded RNA-dep
• Protein function: Activates EIF2AK2/PKR in the absence of double-stranded RNA (dsRNA), leading to phosphorylation of EIF2S1/EFI2-alpha and inhibition of translation and induction of apoptosis. Required for siRNA production by DICER1 and for subsequent siRNA-media
• PDB: 2DIX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00035	dsrm	35 → 99	Double-stranded RNA binding motif	Domain
  PF00035	dsrm	127 → 192	Double-stranded RNA binding motif	Domain
  PF16482	Staufen_C	218 → 310	Staufen C-terminal domain	Domain

• Sequence:

  MSQSRHRAEAPPLEREDSGTFSLGKMITAKPGKTPIQVLHEYGMKTKNIPVYECERSDVQ
  IHVPTFTFRVTVGDITCTGEGTSKKLAKHRAAEAAINILKANASICFAVPDPLMPDPSKQ
  PKNQLNPIGSLQELAIHHGWRLPEYTLSQEGGPAHKREYTTICRLESFMETGKGASKKQA
  KRNAAEKFLAKFSNISPENHISLTNVVGHSLGCTWHSLRNSPGEKINLLKRSLLSIPNTD
  YIQLLSEIAKEQGFNITYLDIDELSANGQYQCLAELSTSPITVCHGSGISCGNAQSDAAH
  NALQYLKIIAERK

• Sequence length: 313

Pathways

Reactome:

MicroRNA (miRNA) biogenesis
Small interfering RNA (siRNA) biogenesis

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
Dystonia 16	Likely pathogenic; Pathogenic	rs775832077, rs752452731, rs121434410, rs730880307	RCV001355601 RCV002250264 RCV000006718 RCV000006719	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PRKRA-related disorder	Likely pathogenic; Pathogenic	rs121434410	RCV003914817	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MICROTIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonic disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIC DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign; Benign; -	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONIAN DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; -	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	17332367		★☆☆☆☆ Found in Text Mining only
Adult-Onset Dystonias	Dystonia	CTD_human_DG	18243799		★☆☆☆☆ Found in Text Mining only
Adult-Onset Idiopathic Focal Dystonias	Dystonia	CTD_human_DG	18243799		★☆☆☆☆ Found in Text Mining only
Adult-Onset Idiopathic Torsion Dystonias	Dystonia	CTD_human_DG	18243799		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	35597955	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	28063245, 29379275		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29032202		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Familial Dystonia	Dystonia	CTD_human_DG	18243799		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Juvenile Parkinson Disease	Parkinson Disease	CTD_human_DG	18243799		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Parkinsonism	Parkinsonian disease	CTD_human_DG	18243799		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Familial Dystonia	Dystonia	CTD_human_DG	18243799		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Parkinsonism	Parkinsonian disease	CTD_human_DG	18243799		★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal Ganglia Diseases	BEFREE	20590807		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31067223		★☆☆☆☆ Found in Text Mining only
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	BEFREE	17332367		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35035655	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30305341		★☆☆☆☆ Found in Text Mining only
Childhood Onset Dystonias	Dystonia	CTD_human_DG	18243799		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27107574, 27859935	Associate	★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	BEFREE	28109504		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	22961479		★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	28063245, 30607785		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	25574825	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	25574825		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	GWASCAT_DG	25574825		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	20425035		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	22842711, 25150291, 26231208, 33049316, 33236446, 35625640	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA 12	Dystonia	BEFREE	20694531		★☆☆☆☆ Found in Text Mining only
Dystonia 16	Dystonia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DYSTONIA 16 (disorder)	Dystonia	ORPHANET_DG	18243799		★☆☆☆☆ Found in Text Mining only
DYSTONIA 16 (disorder)	Dystonia	UNIPROT_DG	18243799, 18420150		★☆☆☆☆ Found in Text Mining only
DYSTONIA 16 (disorder)	Dystonia	CLINVAR_DG	18243799, 25142429, 26231208, 26990861		★☆☆☆☆ Found in Text Mining only
DYSTONIA 16 (disorder)	Dystonia	GENOMICS_ENGLAND_DG	18420150, 25142429, 25914261, 26990861		★☆☆☆☆ Found in Text Mining only
DYSTONIA 16 (disorder)	Dystonia	BEFREE	20590807, 31246344		★☆☆☆☆ Found in Text Mining only
Dystonia 3, Torsion, X-Linked	Dystonia	BEFREE	19578124, 20694531		★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	18243799, 19157930, 20066431, 20590807, 20694531, 22842711, 25142429, 25643588, 26231208, 27939583, 29279192		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia Disorders	Dystonia	CTD_human_DG	18243799		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia, Primary	Dystonia	CTD_human_DG	18243799		★☆☆☆☆ Found in Text Mining only
Dystonia, Secondary	Dystonia	CTD_human_DG	18243799		★☆☆☆☆ Found in Text Mining only
Dystonias, Sporadic	Dystonia	CTD_human_DG	18243799		★☆☆☆☆ Found in Text Mining only
Early onset torsion dystonia	Dystonia	BEFREE	19157930		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	25574825		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	29032202		★☆☆☆☆ Found in Text Mining only
Familial Dystonia	Dystonia	CTD_human_DG	18243799		★☆☆☆☆ Found in Text Mining only
Familial Juvenile Parkinsonism	Parkinsonian disease	CTD_human_DG	18243799		★☆☆☆☆ Found in Text Mining only
Focal Dystonia	Focal dystonia	CTD_human_DG	18243799		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	BEFREE	20694531		★☆☆☆☆ Found in Text Mining only
Idiopathic familial dystonia	Dystonia	CTD_human_DG	18243799		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Laryngeal dystonia	Laryngeal dystonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lingual-Facial-Buccal Dyskinesia	Orofacial dyskinesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	20538795	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31067223		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30305341		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29032202		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	29880047		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	31246344		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	23472185		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	23472185		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	36755464	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	34520479	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23671264		★☆☆☆☆ Found in Text Mining only
Neurodegeneration with brain iron accumulation (NBIA)	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	BEFREE	20694531		★☆☆☆☆ Found in Text Mining only
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5	Neurodegeneration With Brain Iron Accumulation	BEFREE	20694531		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	29170442	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29170442		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30305341		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	25150291		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	CTD_human_DG	18243799		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	18243799, 20590807, 20694531, 22842711, 23893446, 25142429, 25643588, 29279192		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	CTD_human_DG	18243799		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson disease	Pubtator	22842711	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonism, Juvenile	Parkinsonian disease	CTD_human_DG	18243799		★☆☆☆☆ Found in Text Mining only
Parkinsonism-Dystonia, Infantile	Parkinsonism-dystonia	BEFREE	25643588		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	27771367		★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	BEFREE	27771367		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Pseudodystonia	Pycnodysostosis	CTD_human_DG	18243799		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	25574825		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASCAT_DG	25574825		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	Pubtator	25574825	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ramsay Hunt Paralysis Syndrome	Ramsay Hunt Paralysis Syndrome	CTD_human_DG	18243799		★☆☆☆☆ Found in Text Mining only
Retrocollis	Retrocollis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 11, autosomal recessive	Spastic Paraplegia	BEFREE	20694531		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	17332367		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	36077333	Associate	★☆☆☆☆ Found in Text Mining only
Writer`s Cramp	Writer`s Cramp	CTD_human_DG	18243799		★☆☆☆☆ Found in Text Mining only