PITRM1 (pitrilysin metallopeptidase 1)

Gene

• Entrez ID: 10531
• Gene name: Pitrilysin metallopeptidase 1
• Gene symbol: PITRM1
• Synonyms (NCBI Gene): MP1, PreP, SCAR30
• Chromosome: 10
• Chromosome location: 10p15.2
• Summary: The protein encoded by this gene is an ATP-dependent metalloprotease that degrades post-cleavage mitochondrial transit peptides. The encoded protein binds zinc and can also degrade amyloid beta A4 protein, suggesting a possible role in Alzheimer`s disease

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049603	hsa-miR-92a-3p	CLASH	23622248
MIRT041475	hsa-miR-193b-3p	CLASH	23622248
MIRT038903	hsa-miR-93-3p	CLASH	23622248
MIRT037980	hsa-miR-502-3p	CLASH	23622248
MIRT035886	hsa-miR-1303	CLASH	23622248
MIRT439966	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439966	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1236965	hsa-let-7a	CLIP-seq
MIRT1236966	hsa-let-7b	CLIP-seq
MIRT1236967	hsa-let-7c	CLIP-seq
MIRT1236968	hsa-let-7d	CLIP-seq
MIRT1236969	hsa-let-7e	CLIP-seq
MIRT1236970	hsa-let-7f	CLIP-seq
MIRT1236971	hsa-let-7g	CLIP-seq
MIRT1236972	hsa-let-7i	CLIP-seq
MIRT1236973	hsa-miR-1236	CLIP-seq
MIRT1236974	hsa-miR-1343	CLIP-seq
MIRT1236975	hsa-miR-202	CLIP-seq
MIRT1236976	hsa-miR-3609	CLIP-seq
MIRT1236977	hsa-miR-3647-3p	CLIP-seq
MIRT1236978	hsa-miR-4458	CLIP-seq
MIRT1236979	hsa-miR-4500	CLIP-seq
MIRT1236980	hsa-miR-4639-3p	CLIP-seq
MIRT1236981	hsa-miR-4662a-3p	CLIP-seq
MIRT1236982	hsa-miR-4712-5p	CLIP-seq
MIRT1236983	hsa-miR-4722-3p	CLIP-seq
MIRT1236984	hsa-miR-4760-5p	CLIP-seq
MIRT1236985	hsa-miR-4763-5p	CLIP-seq
MIRT1236986	hsa-miR-4777-5p	CLIP-seq
MIRT1236987	hsa-miR-4802-3p	CLIP-seq
MIRT1236988	hsa-miR-518d-5p	CLIP-seq
MIRT1236989	hsa-miR-519b-5p	CLIP-seq
MIRT1236990	hsa-miR-519c-5p	CLIP-seq
MIRT1236991	hsa-miR-520c-5p	CLIP-seq
MIRT1236992	hsa-miR-520d-5p	CLIP-seq
MIRT1236993	hsa-miR-520g	CLIP-seq
MIRT1236994	hsa-miR-520h	CLIP-seq
MIRT1236995	hsa-miR-524-5p	CLIP-seq
MIRT1236996	hsa-miR-526a	CLIP-seq
MIRT1236997	hsa-miR-548ad	CLIP-seq
MIRT1236998	hsa-miR-548ah	CLIP-seq
MIRT1236999	hsa-miR-596	CLIP-seq
MIRT1237000	hsa-miR-668	CLIP-seq
MIRT1237001	hsa-miR-770-5p	CLIP-seq
MIRT1237002	hsa-miR-98	CLIP-seq
MIRT1236965	hsa-let-7a	CLIP-seq
MIRT1236966	hsa-let-7b	CLIP-seq
MIRT1236967	hsa-let-7c	CLIP-seq
MIRT1236968	hsa-let-7d	CLIP-seq
MIRT1236969	hsa-let-7e	CLIP-seq
MIRT1236970	hsa-let-7f	CLIP-seq
MIRT1236971	hsa-let-7g	CLIP-seq
MIRT1236972	hsa-let-7i	CLIP-seq
MIRT1236975	hsa-miR-202	CLIP-seq
MIRT1236978	hsa-miR-4458	CLIP-seq
MIRT1236979	hsa-miR-4500	CLIP-seq
MIRT1236986	hsa-miR-4777-5p	CLIP-seq
MIRT1236988	hsa-miR-518d-5p	CLIP-seq
MIRT1236989	hsa-miR-519b-5p	CLIP-seq
MIRT1236990	hsa-miR-519c-5p	CLIP-seq
MIRT1236991	hsa-miR-520c-5p	CLIP-seq
MIRT1236996	hsa-miR-526a	CLIP-seq
MIRT1236997	hsa-miR-548ad	CLIP-seq
MIRT1237002	hsa-miR-98	CLIP-seq
MIRT1236965	hsa-let-7a	CLIP-seq
MIRT1236966	hsa-let-7b	CLIP-seq
MIRT1236967	hsa-let-7c	CLIP-seq
MIRT1236968	hsa-let-7d	CLIP-seq
MIRT1236969	hsa-let-7e	CLIP-seq
MIRT1236970	hsa-let-7f	CLIP-seq
MIRT1236971	hsa-let-7g	CLIP-seq
MIRT1236972	hsa-let-7i	CLIP-seq
MIRT1236973	hsa-miR-1236	CLIP-seq
MIRT2069703	hsa-miR-1273	CLIP-seq
MIRT2069704	hsa-miR-1279	CLIP-seq
MIRT1236974	hsa-miR-1343	CLIP-seq
MIRT1236975	hsa-miR-202	CLIP-seq
MIRT2069705	hsa-miR-3148	CLIP-seq
MIRT2069706	hsa-miR-3158-3p	CLIP-seq
MIRT1236976	hsa-miR-3609	CLIP-seq
MIRT2069707	hsa-miR-3689d	CLIP-seq
MIRT2069708	hsa-miR-3978	CLIP-seq
MIRT2069709	hsa-miR-432	CLIP-seq
MIRT1236978	hsa-miR-4458	CLIP-seq
MIRT1236979	hsa-miR-4500	CLIP-seq
MIRT1236980	hsa-miR-4639-3p	CLIP-seq
MIRT1236981	hsa-miR-4662a-3p	CLIP-seq
MIRT1236982	hsa-miR-4712-5p	CLIP-seq
MIRT1236983	hsa-miR-4722-3p	CLIP-seq
MIRT1236985	hsa-miR-4763-5p	CLIP-seq
MIRT1236986	hsa-miR-4777-5p	CLIP-seq
MIRT1236988	hsa-miR-518d-5p	CLIP-seq
MIRT1236989	hsa-miR-519b-5p	CLIP-seq
MIRT1236990	hsa-miR-519c-5p	CLIP-seq
MIRT1236991	hsa-miR-520c-5p	CLIP-seq
MIRT1236992	hsa-miR-520d-5p	CLIP-seq
MIRT1236993	hsa-miR-520g	CLIP-seq
MIRT1236994	hsa-miR-520h	CLIP-seq
MIRT1236995	hsa-miR-524-5p	CLIP-seq
MIRT1236996	hsa-miR-526a	CLIP-seq
MIRT1236997	hsa-miR-548ad	CLIP-seq
MIRT1236998	hsa-miR-548ah	CLIP-seq
MIRT1236999	hsa-miR-596	CLIP-seq
MIRT1237000	hsa-miR-668	CLIP-seq
MIRT1237001	hsa-miR-770-5p	CLIP-seq
MIRT1237002	hsa-miR-98	CLIP-seq
MIRT1236965	hsa-let-7a	CLIP-seq
MIRT1236966	hsa-let-7b	CLIP-seq
MIRT1236967	hsa-let-7c	CLIP-seq
MIRT1236968	hsa-let-7d	CLIP-seq
MIRT1236969	hsa-let-7e	CLIP-seq
MIRT1236970	hsa-let-7f	CLIP-seq
MIRT1236971	hsa-let-7g	CLIP-seq
MIRT1236972	hsa-let-7i	CLIP-seq
MIRT1236975	hsa-miR-202	CLIP-seq
MIRT1236978	hsa-miR-4458	CLIP-seq
MIRT1236979	hsa-miR-4500	CLIP-seq
MIRT1236986	hsa-miR-4777-5p	CLIP-seq
MIRT1236988	hsa-miR-518d-5p	CLIP-seq
MIRT1236989	hsa-miR-519b-5p	CLIP-seq
MIRT1236990	hsa-miR-519c-5p	CLIP-seq
MIRT1236991	hsa-miR-520c-5p	CLIP-seq
MIRT1236996	hsa-miR-526a	CLIP-seq
MIRT1236997	hsa-miR-548ad	CLIP-seq
MIRT1236999	hsa-miR-596	CLIP-seq
MIRT1237002	hsa-miR-98	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IDA	10360838, 19196155
GO:0004222	Function	Metalloendopeptidase activity	IMP	16849325, 24931469
GO:0005515	Function	Protein binding	IPI	24931469
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IBA
GO:0005759	Component	Mitochondrial matrix	IDA	16849325, 19196155
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006508	Process	Proteolysis	IDA	10360838, 19196155
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	IMP	16849325, 24931469
GO:0006626	Process	Protein targeting to mitochondrion	TAS
GO:0008047	Function	Enzyme activator activity	TAS	9733512
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	EXP	19962426, 26697887
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IDA	24931469
GO:0016485	Process	Protein processing	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 618211
• HGNC: 17663
• e!Ensembl: ENSG00000107959

Protein

• UniProt ID: Q5JRX3
• Protein name: Presequence protease, mitochondrial (hPreP) (EC 3.4.24.-) (Pitrilysin metalloproteinase 1) (Metalloprotease 1) (hMP1)
• Protein function: Metalloendopeptidase of the mitochondrial matrix that functions in peptide cleavage and degradation rather than in protein processing (PubMed:10360838, PubMed:16849325, PubMed:19196155, PubMed:24931469). Has an ATP-independent activity (PubMed:1
• PDB: 4L3T, 4NGE, 4RPU, 6XOS, 6XOT, 6XOU, 6XOV, 6XOW
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00675	Peptidase_M16	93 → 189	Insulinase (Peptidase family M16)	Family
  PF05193	Peptidase_M16_C	244 → 431	Peptidase M16 inactive domain	Domain
  PF08367	M16C_assoc	504 → 752	Peptidase M16C associated	Family
  PF05193	Peptidase_M16_C	768 → 959	Peptidase M16 inactive domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in muscle and heart compared to brain, pancreas, liver, lung and placenta. {ECO:0000269|PubMed:10360838}.
• Sequence:

  MWRCGGRQGLCVLRRLSGGHAHHRAWRWNSNRACERALQYKLGDKIHGFTVNQVTSVPEL
  FLTAVKLTHDDTGARYLHLAREDTNNLFSVQFRTTPMDSTGVPHILEHTVLCGSQKYPCR
  DPFFKMLNRSLSTFMNAFTASDYTLYPFSTQNPKDFQNLLSVYLDATFFPCLRELDFWQE
  GWRLEHENPSDPQTPLVFKGVVFNEMKGAFTDNERIFSQHLQNRLLPDHTYSVVSGGDPL
  CIPELTWEQLKQFHATHYHPSNARFFTYGNFPLEQHLKQIHEEALSKFQKIEPSTVVPAQ
  TPWDKPREFQITCGPDSFATDPSKQTTISVSFLLPDITDTFEAFTLSLLSSLLTSGPNSP
  FYKALIESGLGTDFSPDVGYNGYTREAYFSVGLQGIAEKDIETVRSLIDRTIDEVVEKGF
  EDDRIEALLHKIEIQMKHQSTSFGLMLTSYIASCWNHDGDPVELLKLGNQLAKFRQCLQE
  NPKFLQEKVKQYFKNNQHKLTLSMRPDDKYHEKQAQVEATKLKQKVEALSPGDRQQIYEK
  GLELRSQQSKPQDASCLPALKVSDIEPTIPVTELDVVLTAGDIPVQYCAQPTNGMVYFRA
  FSSLNTLPEELRPYVPLFCSVLTKLGCGLLDYREQAQQIELKTGGMSASPHVLPDDSHMD
  TYEQGVLFSSLCLDRNLPDMMQLWSEIFNNPCFEEEEHFKVLVKMTAQELANGIPDSGHL
  YASIRAGRTLTPAGDLQETFSGMDQVRLMKRIAEMTDIKPILRKLPRIKKHLLNGDNMRC
  SVNATPQQMPQTEKAVEDFLRSIGRSKKERRPVRPHTVEKPVPSSSGGDAHVPHGSQVIR
  KLVMEPTFKPWQMKTHFLMPFPVNYVGECIRTVPYTDPDHASLKILARLMTAKFLHTEIR
  EKGGAYGGGAKLSHNGIFTLYSYRDPNTIETLQSFGKAVDWAKSGKFTQQDIDEAKLSVF
  STVDAPVAPSDKGMDHFLYGLSDEMKQAHREQLFAVSHDKLLAVSDRYLGTGKSTHGLAI
  LGPENPKIAKDPSWIIQ

• Sequence length: 1037

Pathways

Reactome:

Mitochondrial protein import

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
Infantile onset spinocerebellar ataxia	Pathogenic	rs2132393459	RCV001449674	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar ataxia, autosomal recessive 30	Pathogenic	rs1249144069, rs187308159	RCV001530971 RCV001530972	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Irido-corneo-trabecular dysgenesis	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITRM1-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	32491259	Associate	★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	CTD_human_DG	8691432		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	29106801		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29106801		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	26410585		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	26410585		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29980767, 30409909		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29916538		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	17324276		★☆☆☆☆ Found in Text Mining only
Bloch Sulzberger syndrome	Incontinentia pigmenti syndrome	BEFREE	21222625		★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain Infarction	BEFREE	28602833		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16028413, 28070831		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23555181	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	BEFREE	31138732		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	22740343	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	31392651		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	15890709, 16793522, 17454876, 22732824, 29207979, 30159724		★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	29764912	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	28602833		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	18279381, 19577641, 27987133, 28602833		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	12504095		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	20534982		★☆☆☆☆ Found in Text Mining only
Coffin-Siris syndrome	Coffin-Siris Syndrome	BEFREE	18263571		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	16187206, 27986355, 30380361		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28880032		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24465166	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34285715	Stimulate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	26222144, 31400851		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	29740871		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	15911340		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	20709134		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30409909		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30409909		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	16257508		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	31067674		★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic ataxia	Pubtator	29764912	Associate	★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	28760196		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	27760195	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28352366		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	16092940		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	16092940		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32857715	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	21364753		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	32857715	Inhibit	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	16187206, 27986355		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	20709134		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	26697887		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	29383861		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	35464773	Associate	★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	28793778		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	31174481		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	29904422		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	28097068		★☆☆☆☆ Found in Text Mining only
Low Grade Lymphoma (neoplasm)	Low Grade Lymphoma	BEFREE	22507790		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	22507790		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	27225020, 34891119	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16028413, 28070831		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	21364753		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19687473, 30981844		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28880032		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	PSYGENET_DG	15911340		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	BEFREE	15950352		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	15911340		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	26697887		★☆☆☆☆ Found in Text Mining only
Mental Retardation Autosomal Dominant 1	Intellectual developmental disorder	Pubtator	29383861	Associate	★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	BEFREE	15911340		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	GWASDB_DG	21211798		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30294852		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	29383861	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30665156		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	16092940, 21487212, 24269815, 24412329, 30294852		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	LHGDN	16092940		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	16086671, 16092940	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	24412329, 27693621, 29779956, 29998529, 30660495, 31759088		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	29383861		★☆☆☆☆ Found in Text Mining only
Neutrophilia (disorder)	Neutrophilia	BEFREE	29202450		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	26697887		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	27077116, 31067674		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22740343	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	39972314	Inhibit	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	21222624, 22233220, 22429328, 23010175, 24412329, 24953230, 27503084, 29367610, 30665156, 31732257, 31759088		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	28760196		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	BEFREE	26697887		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	26697887		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	30403163		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	29980767		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	28221200		★☆☆☆☆ Found in Text Mining only
Retrograde amnesia	Retrograde Amnesia	CTD_human_DG	18318186		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	27986355		★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	BEFREE	28760196		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	29764912	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	27760195		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	21364753		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	19035315	Associate	★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Insufficiency	Tricuspid Valve Insufficiency	BEFREE	29940616		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	29455070		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	28801243		★☆☆☆☆ Found in Text Mining only