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	60528
Gene name	ElaC ribonuclease Z 2
Gene symbol	ELAC2
Synonyms (NCBI Gene)	COXPD17ELC2HPC2
Chromosome	17
Chromosome location	17p12
Summary	The protein encoded by this gene has a C-terminal domain with tRNA 3′ processing endoribonuclease activity, which catalyzes the removal of the 3` trailer from precursor tRNAs. The protein also interacts with activated Smad family member 2 (Smad2) an

Show/Hide all (20)

SNP ID	Visualize variation	Clinical significance	Consequence
rs4792311	G>A,C	Pathogenic, benign	Coding sequence variant, missense variant, intron variant
rs5030739	C>T	Pathogenic, benign	Coding sequence variant, missense variant
rs119484086	C>A,T	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs119484087	T>A,C	Pathogenic, benign	Coding sequence variant, missense variant
rs149733287	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, splice acceptor variant
rs150347734	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs371543722	G>C,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs387906327	->C	Pathogenic, uncertain-significance	Frameshift variant, coding sequence variant
rs397515463	G>A	Pathogenic	Coding sequence variant, missense variant
rs397515464	T>A	Pathogenic	Stop gained, coding sequence variant
rs397515465	A>G	Pathogenic	Coding sequence variant, missense variant
rs397515466	G>A	Pathogenic	Coding sequence variant, missense variant
rs761385155	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs763770476	C>A	Pathogenic	Coding sequence variant, stop gained
rs1060502161	CT>A	Pathogenic, uncertain-significance	Splice acceptor variant
rs1064796732	GAG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1308121771	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555575927	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555576642	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1567773277	T>-	Pathogenic	Frameshift variant, coding sequence variant

113

Show/Hide all (113)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031823	hsa-miR-16-5p	Proteomics	18668040
MIRT048960	hsa-miR-92a-3p	CLASH	23622248
MIRT048834	hsa-miR-93-5p	CLASH	23622248
MIRT047119	hsa-miR-183-5p	CLASH	23622248
MIRT042299	hsa-miR-484	CLASH	23622248
MIRT039981	hsa-miR-615-3p	CLASH	23622248
MIRT036843	hsa-miR-877-3p	CLASH	23622248
MIRT959661	hsa-miR-1264	CLIP-seq
MIRT959662	hsa-miR-3684	CLIP-seq
MIRT959663	hsa-miR-3917	CLIP-seq
MIRT959661	hsa-miR-1264	CLIP-seq
MIRT959664	hsa-miR-1301	CLIP-seq
MIRT959665	hsa-miR-137	CLIP-seq
MIRT959666	hsa-miR-25	CLIP-seq
MIRT959667	hsa-miR-32	CLIP-seq
MIRT959668	hsa-miR-363	CLIP-seq
MIRT959669	hsa-miR-367	CLIP-seq
MIRT959670	hsa-miR-4660	CLIP-seq
MIRT959671	hsa-miR-5047	CLIP-seq
MIRT959672	hsa-miR-92a	CLIP-seq
MIRT959673	hsa-miR-92b	CLIP-seq
MIRT959674	hsa-miR-3123	CLIP-seq
MIRT959675	hsa-miR-3925-5p	CLIP-seq
MIRT959676	hsa-miR-3976	CLIP-seq
MIRT1984271	hsa-miR-326	CLIP-seq
MIRT1984272	hsa-miR-330-5p	CLIP-seq
MIRT1984273	hsa-miR-3650	CLIP-seq
MIRT1984274	hsa-miR-3664-5p	CLIP-seq
MIRT1984275	hsa-miR-4299	CLIP-seq
MIRT1984276	hsa-miR-4456	CLIP-seq
MIRT1984277	hsa-miR-4714-5p	CLIP-seq
MIRT1984278	hsa-miR-548q	CLIP-seq
MIRT1984279	hsa-miR-593	CLIP-seq
MIRT2219377	hsa-miR-1237	CLIP-seq
MIRT2219378	hsa-miR-125a-5p	CLIP-seq
MIRT2219379	hsa-miR-125b	CLIP-seq
MIRT959661	hsa-miR-1264	CLIP-seq
MIRT959664	hsa-miR-1301	CLIP-seq
MIRT959665	hsa-miR-137	CLIP-seq
MIRT2219380	hsa-miR-1912	CLIP-seq
MIRT2219381	hsa-miR-22	CLIP-seq
MIRT959666	hsa-miR-25	CLIP-seq
MIRT2219382	hsa-miR-3064-3p	CLIP-seq
MIRT2219383	hsa-miR-3120-3p	CLIP-seq
MIRT2219384	hsa-miR-3130-5p	CLIP-seq
MIRT2219385	hsa-miR-3151	CLIP-seq
MIRT2219386	hsa-miR-3173-3p	CLIP-seq
MIRT959667	hsa-miR-32	CLIP-seq
MIRT2219387	hsa-miR-3614-3p	CLIP-seq
MIRT2219388	hsa-miR-3616-3p	CLIP-seq
MIRT959668	hsa-miR-363	CLIP-seq
MIRT959669	hsa-miR-367	CLIP-seq
MIRT959663	hsa-miR-3917	CLIP-seq
MIRT959676	hsa-miR-3976	CLIP-seq
MIRT2219389	hsa-miR-4303	CLIP-seq
MIRT2219390	hsa-miR-4319	CLIP-seq
MIRT2219391	hsa-miR-4436b-3p	CLIP-seq
MIRT2219392	hsa-miR-4453	CLIP-seq
MIRT2219393	hsa-miR-4482	CLIP-seq
MIRT2219394	hsa-miR-4514	CLIP-seq
MIRT2219395	hsa-miR-4538	CLIP-seq
MIRT2219396	hsa-miR-4642	CLIP-seq
MIRT2219397	hsa-miR-4645-5p	CLIP-seq
MIRT959670	hsa-miR-4660	CLIP-seq
MIRT2219398	hsa-miR-4673	CLIP-seq
MIRT2219399	hsa-miR-4692	CLIP-seq
MIRT2219400	hsa-miR-4779	CLIP-seq
MIRT2219401	hsa-miR-486-3p	CLIP-seq
MIRT959671	hsa-miR-5047	CLIP-seq
MIRT2219402	hsa-miR-634	CLIP-seq
MIRT959672	hsa-miR-92a	CLIP-seq
MIRT959673	hsa-miR-92b	CLIP-seq
MIRT2448778	hsa-miR-4778-3p	CLIP-seq
MIRT2522701	hsa-miR-1287	CLIP-seq
MIRT2522702	hsa-miR-18a	CLIP-seq
MIRT2522703	hsa-miR-18b	CLIP-seq
MIRT2522704	hsa-miR-1909	CLIP-seq
MIRT2522705	hsa-miR-3125	CLIP-seq
MIRT2522706	hsa-miR-3135b	CLIP-seq
MIRT1984271	hsa-miR-326	CLIP-seq
MIRT1984272	hsa-miR-330-5p	CLIP-seq
MIRT2522707	hsa-miR-34b	CLIP-seq
MIRT1984273	hsa-miR-3650	CLIP-seq
MIRT1984274	hsa-miR-3664-5p	CLIP-seq
MIRT959662	hsa-miR-3684	CLIP-seq
MIRT2522708	hsa-miR-3916	CLIP-seq
MIRT2522709	hsa-miR-3944-5p	CLIP-seq
MIRT1984275	hsa-miR-4299	CLIP-seq
MIRT1984276	hsa-miR-4456	CLIP-seq
MIRT2522710	hsa-miR-4632	CLIP-seq
MIRT1984277	hsa-miR-4714-5p	CLIP-seq
MIRT2522711	hsa-miR-4735-3p	CLIP-seq
MIRT1984278	hsa-miR-548q	CLIP-seq
MIRT1984279	hsa-miR-593	CLIP-seq
MIRT2522712	hsa-miR-877	CLIP-seq
MIRT2522701	hsa-miR-1287	CLIP-seq
MIRT2522704	hsa-miR-1909	CLIP-seq
MIRT2522705	hsa-miR-3125	CLIP-seq
MIRT2522706	hsa-miR-3135b	CLIP-seq
MIRT1984271	hsa-miR-326	CLIP-seq
MIRT1984272	hsa-miR-330-5p	CLIP-seq
MIRT2522707	hsa-miR-34b	CLIP-seq
MIRT1984273	hsa-miR-3650	CLIP-seq
MIRT1984274	hsa-miR-3664-5p	CLIP-seq
MIRT959662	hsa-miR-3684	CLIP-seq
MIRT2522708	hsa-miR-3916	CLIP-seq
MIRT2522709	hsa-miR-3944-5p	CLIP-seq
MIRT1984275	hsa-miR-4299	CLIP-seq
MIRT1984276	hsa-miR-4456	CLIP-seq
MIRT1984277	hsa-miR-4714-5p	CLIP-seq
MIRT1984278	hsa-miR-548q	CLIP-seq
MIRT1984279	hsa-miR-593	CLIP-seq
MIRT2522712	hsa-miR-877	CLIP-seq

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0004521	Function	RNA endonuclease activity	TAS
GO:0004549	Function	TRNA-specific ribonuclease activity	EXP	12711671, 15317868, 16361254, 18809514, 21559454, 21593607
GO:0005634	Component	Nucleus	IDA	21593607
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	21593607
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0008033	Process	TRNA processing	IEA
GO:0016078	Process	TRNA decay	TAS
GO:0016787	Function	Hydrolase activity	IEA
GO:0042645	Component	Mitochondrial nucleoid	IDA	24703694
GO:0042645	Component	Mitochondrial nucleoid	IEA
GO:0042780	Process	TRNA 3'-end processing	TAS
GO:0042781	Function	3'-tRNA processing endoribonuclease activity	IBA
GO:0042781	Function	3'-tRNA processing endoribonuclease activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0090646	Process	Mitochondrial tRNA processing	TAS
GO:1990180	Process	Mitochondrial tRNA 3'-end processing	IBA
GO:1990180	Process	Mitochondrial tRNA 3'-end processing	IMP	21593607

MIM	HGNC	e!Ensembl
605367	14198	ENSG00000006744

Q9BQ52

Protein name

Zinc phosphodiesterase ELAC protein 2 (EC 3.1.26.11) (ElaC homolog protein 2) (Heredity prostate cancer protein 2) (Ribonuclease Z 2) (RNase Z 2) (tRNA 3 endonuclease 2) (tRNase Z 2)

Protein function

Zinc phosphodiesterase, which displays mitochondrial tRNA 3'-processing endonuclease activity. Involved in tRNA maturation, by removing a 3'-trailer from precursor tRNA (PubMed:21593607). Associates with mitochondrial DNA complexes at the nucleo

PDB

8CBL , 8RR1 , 8RR3 , 8RR4 , 8Z0P , 8Z1F , 8Z1G , 9EY0 , 9EY1 , 9EY2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13691	Lactamase_B_4	61 → 120	tRNase Z endonuclease	Domain
PF12706	Lactamase_B_2	510 → 725	Beta-lactamase superfamily domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Highly expressed in heart, placenta, liver, skeletal muscle, kidney, pancreas, testis and ovary. Weakly expressed in brain, lung, spleen, thymus, prostate, small intestine, colon and leukocytes. {ECO:0000269|PubMed:11

Sequence

MWALCSLLRSAAGRTMSQGRTISQAPARRERPRKDPLRHLRTREKRGPSGCSGGPNTVYL
QVVAAGSRDSGAALYVFSEFNRYLFNCGEGVQRLMQEHKLKVARLDNIFLTRMHWSNVGG
LSGMILTLKETGLPKCVLSGPPQLEKYLEAIKIFSGPLKGIELAVRPHSAPEYEDETMTV
YQIPIHSEQRRGKHQPWQSPERPLSRLSPERSSDSESNENEPHLPHGVSQRRGVRDSSLV
VAFICKLHLKRGNFLVLKAKEMGLPVGTAAIAPIIAAVKDGKSITHEGREILAEELCTPP
DPGAAFVVVECPDESFIQPICENATFQRYQGKADAPVALVVHMAPASVLVDSRYQQWMER
FGPDTQHLVLNENCASVHNLRSHKIQTQLNLIHPDIFPLLTSFRCKKEGPTLSVPMVQGE
CLLKYQLRPRREWQRDAIITCNPEEFIVEALQLPNFQQSVQEYRRSAQDGPAPAEKRSQY
PEIIFLGTGSAIPMKIRNVSATLVNISPDTSLLLDCGEGTFGQLCRHYGDQVDRVLGTLA
AVFVSHLHADHHTGLPSILLQRERALASLGKPLHPLLVVAPNQLKAWLQQYHNQCQEVLH
HISMIPAKCLQEGAEISSPAVERLISSLLRTCDLEEFQTCLVRHCKHAFGCALVHTSGWK
VVYSGDTMPCEALVRMGKDATLLIHEATLEDGLEEEAVEKTHSTTSQAISVGMRMNAEFI
MLNHFSQRYAKVPLFSPNFSEKVGVAFDHMKVCFGDFPTMPKLIPPLKALFAGDIEEMEE
RREKRELRQVRAALLSRELAGGLEDGEPQQKRAHTEEPQAKKVRAQ

Sequence length

826

Interactions

View interactions

	Reactome
			tRNA processing in the nucleus tRNA processing in the mitochondrion rRNA processing in the mitochondrion

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 (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Combined oxidative phosphorylation defect type 17	Likely pathogenic; Pathogenic	rs1014558424, rs781680309, rs138114191, rs550032922, rs2143692659, rs2143607002, rs779254943, rs946948334, rs2143562536, rs769454280, rs1033730754, rs748788377, rs2041085400, rs764570495, rs2508313935 View all (34 more)	RCV001330819 RCV001382836 RCV001386391 RCV001884755 RCV001991949 View all (44 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ELAC2-related disorder	Likely pathogenic	rs1214177178	RCV003983323	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic	rs779254943	RCV005925438	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian cancer	Likely pathogenic	rs762017822, rs779483057	RCV003154754 RCV003154757	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prostate cancer, hereditary, 2	Likely pathogenic; Pathogenic	rs1014558424, rs766731755, rs387906327	RCV003992497 RCV002249935 RCV000005360	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prostate cancer, hereditary, 2, susceptibility to	Pathogenic	rs397515465	RCV004527310	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (27)

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; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PROSTATE CANCER	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (58)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acidosis Lactic	Lactic acidosis	Pubtator	31045291	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	21627373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	12949798, 20119870, 21627373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17145810		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	10986046	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31045291	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29209123	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	23849775, 27769300, 31045291	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	30126926		★★★★★ ★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC	Cardiomyopathy	BEFREE	23849775, 27769300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined oxidative phosphorylation defect type 17	Combined Oxidative Phosphorylation Deficiency	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17	Combined Oxidative Phosphorylation Deficiency	CLINGEN_DG	21593607, 23849775, 27769300		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17	Combined Oxidative Phosphorylation Deficiency	ORPHANET_DG	23849775		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17	Combined Oxidative Phosphorylation Deficiency	UNIPROT_DG	23849775		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17	Combined Oxidative Phosphorylation Deficiency	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17	Combined Oxidative Phosphorylation Deficiency	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17	Combined Oxidative Phosphorylation Deficiency	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial prostate cancer	Prostate Cancer	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	34635145	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	27769300	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	37889747	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	11254448, 11507049, 11522646, 14625808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	23849775, 31045291		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	23849775, 31045291		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27769300		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	27769300	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10986046, 11175785, 11254448, 11254449, 11431329, 11507049, 11522646, 11751379, 12021166, 12373607, 12384782, 12522685, 12552947, 12569551, 12711671 View all (26 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	16114055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12569551, 20119870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	16114055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	23849775, 27769300	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG	27769300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	23849775, 27769300, 31045291	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	27769300		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	Pubtator	27769300	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Respiratory Chain Deficiencies	Mitochondrial Respiratory Chain Deficiencies	BEFREE	31045291		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17145810, 27318894, 31452838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28529640		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pericardial effusion	Pericardial effusion	BEFREE	28441660		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	11254448, 15714208, 18767027, 32592348	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	BEFREE	11254448, 11522646, 11751379, 12949798, 14625808, 15368467, 15714208, 16267836, 18767027, 23141781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	ORPHANET_DG	23141781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	GENOMICS_ENGLAND_DG	28031937		★★★★★ ★☆☆☆☆ Found in Text Mining only
PROSTATE CANCER, HEREDITARY, 2	Prostate Cancer, Hereditary	UNIPROT_DG	10986046, 11175785, 11507049, 11522646, 12515253, 12522685, 12711671, 12783937, 15489334, 18987736		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PROSTATE CANCER, HEREDITARY, 2	Prostate Cancer, Hereditary	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prostate carcinoma	Prostate cancer	BEFREE	10986046, 11175785, 11254448, 11254449, 11431329, 11507049, 11522646, 11751379, 12021166, 12373607, 12384782, 12522685, 12552947, 12569551, 12711671 View all (25 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	21627373	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	14625808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	10986046, 11254449, 12373607, 15892892, 18375959, 18767027, 20086112, 26251261, 26501111, 31045291, 32592348	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	11175773		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	11175785, 12384782, 12515253, 12522685, 12949798, 14504198, 14625808, 16114055, 18375959, 18767027		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	16114055		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20086112	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small cell carcinoma of lung	Lung carcinoma	BEFREE	28529640		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	37889747	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ELAC2 (elaC ribonuclease Z 2)