Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9512
Gene name	Peptidase, mitochondrial processing subunit beta
Gene symbol	PMPCB
Synonyms (NCBI Gene)	Beta-MPPMAS1MPP11MPPBMPPP52P-52
Chromosome	7
Chromosome location	7q22.1
Summary	This gene is a member of the peptidase M16 family and encodes a protein with a zinc-binding motif. This protein is located in the mitochondrial matrix and catalyzes the cleavage of the leader peptides of precursor proteins newly imported into the mitochon

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs145596167	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs146343535	G>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs200188353	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1436866272	T>C,G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant

168

Show/Hide all (168)

miRTarBase ID	miRNA	Experiments	Reference
MIRT439943	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439943	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1244622	hsa-miR-1206	CLIP-seq
MIRT1244623	hsa-miR-1251	CLIP-seq
MIRT1244624	hsa-miR-1273g	CLIP-seq
MIRT1244625	hsa-miR-1298	CLIP-seq
MIRT1244626	hsa-miR-153	CLIP-seq
MIRT1244627	hsa-miR-199a-3p	CLIP-seq
MIRT1244628	hsa-miR-199b-3p	CLIP-seq
MIRT1244629	hsa-miR-205	CLIP-seq
MIRT1244630	hsa-miR-217	CLIP-seq
MIRT1244631	hsa-miR-219-2-3p	CLIP-seq
MIRT1244632	hsa-miR-2964a-3p	CLIP-seq
MIRT1244633	hsa-miR-299-3p	CLIP-seq
MIRT1244634	hsa-miR-300	CLIP-seq
MIRT1244635	hsa-miR-3065-5p	CLIP-seq
MIRT1244636	hsa-miR-3129-3p	CLIP-seq
MIRT1244637	hsa-miR-3129-5p	CLIP-seq
MIRT1244638	hsa-miR-323b-3p	CLIP-seq
MIRT1244639	hsa-miR-323b-5p	CLIP-seq
MIRT1244640	hsa-miR-340	CLIP-seq
MIRT1244641	hsa-miR-34a	CLIP-seq
MIRT1244642	hsa-miR-34c-5p	CLIP-seq
MIRT1244643	hsa-miR-3660	CLIP-seq
MIRT1244644	hsa-miR-381	CLIP-seq
MIRT1244645	hsa-miR-3927	CLIP-seq
MIRT1244646	hsa-miR-421	CLIP-seq
MIRT1244647	hsa-miR-4256	CLIP-seq
MIRT1244648	hsa-miR-4272	CLIP-seq
MIRT1244649	hsa-miR-4282	CLIP-seq
MIRT1244650	hsa-miR-4464	CLIP-seq
MIRT1244651	hsa-miR-4473	CLIP-seq
MIRT1244652	hsa-miR-4491	CLIP-seq
MIRT1244653	hsa-miR-449a	CLIP-seq
MIRT1244654	hsa-miR-449b	CLIP-seq
MIRT1244655	hsa-miR-4526	CLIP-seq
MIRT1244656	hsa-miR-4657	CLIP-seq
MIRT1244657	hsa-miR-4666-5p	CLIP-seq
MIRT1244658	hsa-miR-4680-5p	CLIP-seq
MIRT1244659	hsa-miR-4684-5p	CLIP-seq
MIRT1244660	hsa-miR-4748	CLIP-seq
MIRT1244661	hsa-miR-4762-3p	CLIP-seq
MIRT1244662	hsa-miR-4766-5p	CLIP-seq
MIRT1244663	hsa-miR-4768-5p	CLIP-seq
MIRT1244664	hsa-miR-4775	CLIP-seq
MIRT1244665	hsa-miR-512-3p	CLIP-seq
MIRT1244666	hsa-miR-520f	CLIP-seq
MIRT1244667	hsa-miR-548u	CLIP-seq
MIRT1244668	hsa-miR-579	CLIP-seq
MIRT1244669	hsa-miR-590-3p	CLIP-seq
MIRT1244670	hsa-miR-617	CLIP-seq
MIRT1244671	hsa-miR-624	CLIP-seq
MIRT1244672	hsa-miR-642b	CLIP-seq
MIRT1244622	hsa-miR-1206	CLIP-seq
MIRT2072342	hsa-miR-1262	CLIP-seq
MIRT2072343	hsa-miR-31	CLIP-seq
MIRT2072344	hsa-miR-3611	CLIP-seq
MIRT2072345	hsa-miR-3671	CLIP-seq
MIRT2072346	hsa-miR-3925-5p	CLIP-seq
MIRT2072347	hsa-miR-4453	CLIP-seq
MIRT2072348	hsa-miR-4493	CLIP-seq
MIRT2072349	hsa-miR-4499	CLIP-seq
MIRT2072350	hsa-miR-4513	CLIP-seq
MIRT2072351	hsa-miR-4538	CLIP-seq
MIRT1244657	hsa-miR-4666-5p	CLIP-seq
MIRT2072352	hsa-miR-4701-3p	CLIP-seq
MIRT2072353	hsa-miR-4760-3p	CLIP-seq
MIRT2072354	hsa-miR-513a-3p	CLIP-seq
MIRT1244668	hsa-miR-579	CLIP-seq
MIRT2072355	hsa-miR-607	CLIP-seq
MIRT2299516	hsa-miR-10a	CLIP-seq
MIRT2299517	hsa-miR-10b	CLIP-seq
MIRT2299518	hsa-miR-1296	CLIP-seq
MIRT2299519	hsa-miR-200b	CLIP-seq
MIRT2299520	hsa-miR-200c	CLIP-seq
MIRT2299521	hsa-miR-2115	CLIP-seq
MIRT2299522	hsa-miR-216a	CLIP-seq
MIRT2299523	hsa-miR-2909	CLIP-seq
MIRT2072343	hsa-miR-31	CLIP-seq
MIRT2299524	hsa-miR-3121-5p	CLIP-seq
MIRT2299525	hsa-miR-3152-5p	CLIP-seq
MIRT2299526	hsa-miR-3158-3p	CLIP-seq
MIRT2072344	hsa-miR-3611	CLIP-seq
MIRT2299527	hsa-miR-362-5p	CLIP-seq
MIRT2072345	hsa-miR-3671	CLIP-seq
MIRT2299528	hsa-miR-384	CLIP-seq
MIRT2299529	hsa-miR-3919	CLIP-seq
MIRT2072346	hsa-miR-3925-5p	CLIP-seq
MIRT2299530	hsa-miR-429	CLIP-seq
MIRT2299531	hsa-miR-4330	CLIP-seq
MIRT2299532	hsa-miR-4446-3p	CLIP-seq
MIRT2072348	hsa-miR-4493	CLIP-seq
MIRT2299533	hsa-miR-4524	CLIP-seq
MIRT2299534	hsa-miR-4725-5p	CLIP-seq
MIRT2299535	hsa-miR-4728-3p	CLIP-seq
MIRT2299536	hsa-miR-4756-3p	CLIP-seq
MIRT2299537	hsa-miR-4803	CLIP-seq
MIRT2299538	hsa-miR-488	CLIP-seq
MIRT2299539	hsa-miR-500b	CLIP-seq
MIRT2299540	hsa-miR-501-5p	CLIP-seq
MIRT2299541	hsa-miR-504	CLIP-seq
MIRT2299542	hsa-miR-516a-3p	CLIP-seq
MIRT2299543	hsa-miR-548l	CLIP-seq
MIRT1244667	hsa-miR-548u	CLIP-seq
MIRT2596226	hsa-miR-101	CLIP-seq
MIRT2596227	hsa-miR-1183	CLIP-seq
MIRT1244622	hsa-miR-1206	CLIP-seq
MIRT2596228	hsa-miR-1245	CLIP-seq
MIRT2596229	hsa-miR-1294	CLIP-seq
MIRT2596230	hsa-miR-129-5p	CLIP-seq
MIRT1244625	hsa-miR-1298	CLIP-seq
MIRT2596231	hsa-miR-144	CLIP-seq
MIRT2299519	hsa-miR-200b	CLIP-seq
MIRT2299520	hsa-miR-200c	CLIP-seq
MIRT2596232	hsa-miR-30a	CLIP-seq
MIRT2596233	hsa-miR-30b	CLIP-seq
MIRT2596234	hsa-miR-30c	CLIP-seq
MIRT2596235	hsa-miR-30d	CLIP-seq
MIRT2596236	hsa-miR-30e	CLIP-seq
MIRT2299524	hsa-miR-3121-5p	CLIP-seq
MIRT2596237	hsa-miR-3607-3p	CLIP-seq
MIRT2299527	hsa-miR-362-5p	CLIP-seq
MIRT2596238	hsa-miR-3647-3p	CLIP-seq
MIRT2072345	hsa-miR-3671	CLIP-seq
MIRT2596239	hsa-miR-3686	CLIP-seq
MIRT2596240	hsa-miR-374c	CLIP-seq
MIRT2596241	hsa-miR-3915	CLIP-seq
MIRT2596242	hsa-miR-3928	CLIP-seq
MIRT2596243	hsa-miR-4257	CLIP-seq
MIRT1244649	hsa-miR-4282	CLIP-seq
MIRT2299530	hsa-miR-429	CLIP-seq
MIRT2596244	hsa-miR-4316	CLIP-seq
MIRT2596245	hsa-miR-450b-5p	CLIP-seq
MIRT1244657	hsa-miR-4666-5p	CLIP-seq
MIRT2596246	hsa-miR-4677-3p	CLIP-seq
MIRT2596247	hsa-miR-4709-5p	CLIP-seq
MIRT2072353	hsa-miR-4760-3p	CLIP-seq
MIRT2596248	hsa-miR-4778-5p	CLIP-seq
MIRT2299538	hsa-miR-488	CLIP-seq
MIRT2299539	hsa-miR-500b	CLIP-seq
MIRT2299540	hsa-miR-501-5p	CLIP-seq
MIRT2596249	hsa-miR-507	CLIP-seq
MIRT2072354	hsa-miR-513a-3p	CLIP-seq
MIRT2299543	hsa-miR-548l	CLIP-seq
MIRT2596250	hsa-miR-557	CLIP-seq
MIRT1244668	hsa-miR-579	CLIP-seq
MIRT2596251	hsa-miR-591	CLIP-seq
MIRT2072355	hsa-miR-607	CLIP-seq
MIRT2596252	hsa-miR-655	CLIP-seq
MIRT2596226	hsa-miR-101	CLIP-seq
MIRT1244622	hsa-miR-1206	CLIP-seq
MIRT2596231	hsa-miR-144	CLIP-seq
MIRT2299524	hsa-miR-3121-5p	CLIP-seq
MIRT2299527	hsa-miR-362-5p	CLIP-seq
MIRT2072345	hsa-miR-3671	CLIP-seq
MIRT2596240	hsa-miR-374c	CLIP-seq
MIRT2596243	hsa-miR-4257	CLIP-seq
MIRT1244657	hsa-miR-4666-5p	CLIP-seq
MIRT2072353	hsa-miR-4760-3p	CLIP-seq
MIRT2299538	hsa-miR-488	CLIP-seq
MIRT2299539	hsa-miR-500b	CLIP-seq
MIRT2299540	hsa-miR-501-5p	CLIP-seq
MIRT2072354	hsa-miR-513a-3p	CLIP-seq
MIRT2299543	hsa-miR-548l	CLIP-seq
MIRT1244668	hsa-miR-579	CLIP-seq
MIRT2596251	hsa-miR-591	CLIP-seq
MIRT2072355	hsa-miR-607	CLIP-seq
MIRT2596252	hsa-miR-655	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IDA	22354088
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	TAS
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	22354088
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	NAS	32443488
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0006627	Process	Protein processing involved in protein targeting to mitochondrion	IBA
GO:0006627	Process	Protein processing involved in protein targeting to mitochondrion	IDA	22354088
GO:0006627	Process	Protein processing involved in protein targeting to mitochondrion	IEA
GO:0006627	Process	Protein processing involved in protein targeting to mitochondrion	NAS	32443488
GO:0006851	Process	Mitochondrial calcium ion transmembrane transport	TAS
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0017087	Component	Mitochondrial processing peptidase complex	NAS	32443488
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
603131	9119	ENSG00000105819

O75439

Protein name

Mitochondrial-processing peptidase subunit beta (EC 3.4.24.64) (Beta-MPP) (P-52)

Protein function

Catalytic subunit of the essential mitochondrial processing protease (MPP), which cleaves the mitochondrial sequence off newly imported precursors proteins (Probable) (PubMed:29576218). Preferentially, cleaves after an arginine at position P2 (B

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00675	Peptidase_M16	68 → 215	Insulinase (Peptidase family M16)	Family
PF05193	Peptidase_M16_C	220 → 404	Peptidase M16 inactive domain	Domain

Sequence

MAAAAARVVLSSAARRRLWGFSESLLIRGAAGRSLYFGENRLRSTQAATQVVLNVPETRV
TCLESGLRVASEDSGLSTCTVGLWIDAGSRYENEKNNGTAHFLEHMAFKGTKKRSQLDLE
LEIENMGAHLNAYTSREQTVYYAKAFSKDLPRAVEILADIIQNSTLGEAEIERERGVILR
EMQEVETNLQEVVFDYLHATAYQNTALGRTILGPTENIKSISRKDLVDYITTHYKGPRIV
LAAAGGVSHDELLDLAKFHFGDSLCTHKGEIPALPPCKFTGSEIRVRDDKMPLAHLAIAV
EAVGWAHPDTICLMVANTLIGNWDRSFGGGMNLSSKLAQLTCHGNLCHSFQSFNTSYTDT
GLWGLYMVCESSTVADMLHVVQKEWMRLCTSVTESEVARARNLLKTNMLLQLDGSTPICE
DIGRQMLCYNRRIPIPELEARIDAVNAETIREVCTKYIYNRSPAIAAVGPIKQLPDFKQI
RSNMCWLRD

Sequence length

489

Interactions

View interactions

	Reactome
			Processing of SMDT1

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)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Lung cancer	Likely pathogenic	rs770951883	RCV005931128	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple mitochondrial dysfunctions syndrome 6	Likely pathogenic; Pathogenic	rs760746927, rs748505216, rs755105367, rs2484895567, rs145596167, rs200188353, rs1436866272, rs1461200360	RCV001837298 RCV001839095 RCV003226099 RCV003337875 RCV000626411 RCV000626413 RCV000626414 RCV000626415 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PMPCB-related ataxia	Likely pathogenic	rs770951883	RCV003329563	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PMPCB-related mitochondrial disorder	Likely pathogenic	rs145596167	RCV001249736	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PMPCB-related disorder	Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (114)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	31337954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	22048948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	31337954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	30125658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	6600211		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	37813091	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	30850299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	BEFREE	30863432		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic valve disorder	Aortic Valve Disease	BEFREE	21316680		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	21316680		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	21316680, 30841771, 31402927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	27935022, 29352340, 30850299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	10640782, 11069631, 15693910, 31675376		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	23592774		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	27935022, 29352340, 30850299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29379544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	30055537		★★★★★ ★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	11694246		★★★★★ ★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	11694246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	23731241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	28826064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	29431106		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	29069098		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26080617, 29206323, 31642813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	23731241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	26080617		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	20392165, 30817468, 31359146, 31849284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carney Complex	Carney Complex	BEFREE	12119264		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	BEFREE	29431106		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	29576218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	30219484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30816157, 30949864		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 3	Kidney Disease	BEFREE	28186543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28820061		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	31494171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28960804		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	21312234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28827587, 31337954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34285715	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	22025374, 28848201, 29287092, 31785110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	31359146		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	31359146		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	31359146		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	12577202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	10640782, 10641561, 10887320, 11069631		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27030319, 28147245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27030319, 28147245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	20592051, 33863751	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	22811473		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30404071		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	10640782, 10641561, 10887320, 11069631, 26011739		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	29982252		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia Verruciformis	BEFREE	31328772		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	25453980, 27896396		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	25453980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	31809491		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	21900387		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	19322812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29287092, 31785110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension, Renovascular	Hypertension	BEFREE	30950337, 31339773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	21342026, 24799613, 27889958, 28500596, 30498455, 30817468, 31328772		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29903860		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	24799613		★★★★★ ★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	26080617		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	23762470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	36675121	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21312234, 30862714		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	21312234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	BEFREE	19932759		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrophage Activation Syndrome	Macrophage Activation Syndrome	BEFREE	28901275, 29379544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26080617, 29206323, 31642813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	23731241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26080617, 30770364, 9441760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	11034098		★★★★★ ★☆☆☆☆ Found in Text Mining only
McCune-Albright Syndrome	McCune-Albright Syndrome	BEFREE	12119264, 17229000, 28901275, 31196103, 31295366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	29484978		★★★★★ ★☆☆☆☆ Found in Text Mining only
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6	Multiple Mitochondrial Dysfunctions Syndrome	UNIPROT_DG	29576218		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6	Multiple Mitochondrial Dysfunctions Syndrome	GENOMICS_ENGLAND_DG	29576218		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6	Multiple Mitochondrial Dysfunctions Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple mitochondrial dysfunctions syndrome type 6	Multiple Mitochondrial Dysfunctions Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30818065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	24163134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	17157168		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28656296		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	28614216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30374682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11034098, 16773189, 21462378, 26080617, 28379688, 28827587, 29206323, 30862714, 9730607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29428223, 29484978		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuronal Ceroid-Lipofuscinoses	Neuronal Ceroid Lipofuscinosis	BEFREE	15352223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28626963, 31406138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	22880127, 23823602		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	22880127	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	20599858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteitis Fibrosa Disseminata	Fibrous dysplasia	BEFREE	31295366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	28531801, 28536469		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29428223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	BEFREE	29462546, 30934723, 31406138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Diseases	Prostatic Diseases	BEFREE	29802847		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28719831, 28826064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	18692591		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	17229000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	11034098		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	11034098		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	25453980, 27896396		★★★★★ ★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	24799613		★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic onset juvenile chronic arthritis	Arthritis	BEFREE	30642364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testotoxicosis	Testotoxicosis	BEFREE	1903104		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	19697584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26080617		★★★★★ ★☆☆☆☆ Found in Text Mining only

PMPCB (peptidase, mitochondrial processing subunit beta)