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	25973
Gene name	Prolyl-tRNA synthetase 2, mitochondrial
Gene symbol	PARS2
Synonyms (NCBI Gene)	DEE75EIEE75MT-PRORSproRS
Chromosome	1
Chromosome location	1p32.3
Summary	This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is lik

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs147227819	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs730882152	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1000886583	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1553183771	G>A	Likely-pathogenic	Coding sequence variant, stop gained

232

Show/Hide all (232)

miRTarBase ID	miRNA	Experiments	Reference
MIRT488294	hsa-miR-6510-5p	PAR-CLIP	23592263
MIRT488293	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT488292	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT488291	hsa-miR-214-3p	PAR-CLIP	23592263
MIRT488290	hsa-miR-3619-5p	PAR-CLIP	23592263
MIRT488289	hsa-miR-761	PAR-CLIP	23592263
MIRT488287	hsa-miR-6798-5p	PAR-CLIP	23592263
MIRT488288	hsa-miR-4530	PAR-CLIP	23592263
MIRT488286	hsa-miR-4649-3p	PAR-CLIP	23592263
MIRT488285	hsa-miR-5008-5p	PAR-CLIP	23592263
MIRT488284	hsa-miR-6089	PAR-CLIP	23592263
MIRT488283	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT488282	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT488281	hsa-miR-874-5p	PAR-CLIP	23592263
MIRT488280	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT488279	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT488278	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT488276	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT488277	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT488275	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT488274	hsa-miR-5698	PAR-CLIP	23592263
MIRT488273	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT488272	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT488294	hsa-miR-6510-5p	PAR-CLIP	23592263
MIRT488293	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT488292	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT488291	hsa-miR-214-3p	PAR-CLIP	23592263
MIRT488290	hsa-miR-3619-5p	PAR-CLIP	23592263
MIRT488289	hsa-miR-761	PAR-CLIP	23592263
MIRT488287	hsa-miR-6798-5p	PAR-CLIP	23592263
MIRT488288	hsa-miR-4530	PAR-CLIP	23592263
MIRT488286	hsa-miR-4649-3p	PAR-CLIP	23592263
MIRT488285	hsa-miR-5008-5p	PAR-CLIP	23592263
MIRT488284	hsa-miR-6089	PAR-CLIP	23592263
MIRT488283	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT488282	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT488281	hsa-miR-874-5p	PAR-CLIP	23592263
MIRT488280	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT488279	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT488278	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT488276	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT488277	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT488275	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT488274	hsa-miR-5698	PAR-CLIP	23592263
MIRT488273	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT488272	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT1214736	hsa-miR-1207-5p	CLIP-seq
MIRT1214737	hsa-miR-140-5p	CLIP-seq
MIRT1214738	hsa-miR-1587	CLIP-seq
MIRT1214739	hsa-miR-1909	CLIP-seq
MIRT1214740	hsa-miR-2355-5p	CLIP-seq
MIRT1214741	hsa-miR-3154	CLIP-seq
MIRT1214742	hsa-miR-3164	CLIP-seq
MIRT1214743	hsa-miR-3679-3p	CLIP-seq
MIRT1214744	hsa-miR-3918	CLIP-seq
MIRT1214745	hsa-miR-4264	CLIP-seq
MIRT1214746	hsa-miR-4417	CLIP-seq
MIRT1214747	hsa-miR-4446-5p	CLIP-seq
MIRT1214748	hsa-miR-4488	CLIP-seq
MIRT1214749	hsa-miR-4492	CLIP-seq
MIRT1214750	hsa-miR-4498	CLIP-seq
MIRT1214751	hsa-miR-4505	CLIP-seq
MIRT1214752	hsa-miR-4640-5p	CLIP-seq
MIRT1214753	hsa-miR-4651	CLIP-seq
MIRT1214754	hsa-miR-4656	CLIP-seq
MIRT1214755	hsa-miR-4675	CLIP-seq
MIRT1214756	hsa-miR-4695-3p	CLIP-seq
MIRT1214757	hsa-miR-4697-5p	CLIP-seq
MIRT1214758	hsa-miR-4726-5p	CLIP-seq
MIRT1214759	hsa-miR-4731-5p	CLIP-seq
MIRT1214760	hsa-miR-4741	CLIP-seq
MIRT1214761	hsa-miR-4763-3p	CLIP-seq
MIRT1214762	hsa-miR-4797-3p	CLIP-seq
MIRT1214763	hsa-miR-486-3p	CLIP-seq
MIRT1214764	hsa-miR-526b	CLIP-seq
MIRT1214765	hsa-miR-541	CLIP-seq
MIRT1214766	hsa-miR-608	CLIP-seq
MIRT1214767	hsa-miR-617	CLIP-seq
MIRT1214768	hsa-miR-654-5p	CLIP-seq
MIRT1214769	hsa-miR-762	CLIP-seq
MIRT2061815	hsa-miR-185	CLIP-seq
MIRT1214745	hsa-miR-4264	CLIP-seq
MIRT2061816	hsa-miR-4306	CLIP-seq
MIRT1214752	hsa-miR-4640-5p	CLIP-seq
MIRT2061817	hsa-miR-4644	CLIP-seq
MIRT1214758	hsa-miR-4726-5p	CLIP-seq
MIRT1214762	hsa-miR-4797-3p	CLIP-seq
MIRT2061818	hsa-miR-499a-5p	CLIP-seq
MIRT2290154	hsa-let-7a	CLIP-seq
MIRT2290155	hsa-let-7b	CLIP-seq
MIRT2290156	hsa-let-7c	CLIP-seq
MIRT2290157	hsa-let-7d	CLIP-seq
MIRT2290158	hsa-let-7e	CLIP-seq
MIRT2290159	hsa-let-7f	CLIP-seq
MIRT2290160	hsa-let-7g	CLIP-seq
MIRT2290161	hsa-let-7i	CLIP-seq
MIRT1214736	hsa-miR-1207-5p	CLIP-seq
MIRT1214737	hsa-miR-140-5p	CLIP-seq
MIRT1214739	hsa-miR-1909	CLIP-seq
MIRT2290162	hsa-miR-196a	CLIP-seq
MIRT2290163	hsa-miR-196b	CLIP-seq
MIRT2290164	hsa-miR-202	CLIP-seq
MIRT2290165	hsa-miR-2110	CLIP-seq
MIRT2290166	hsa-miR-214	CLIP-seq
MIRT2290167	hsa-miR-3157-5p	CLIP-seq
MIRT2290168	hsa-miR-3180-5p	CLIP-seq
MIRT1214744	hsa-miR-3918	CLIP-seq
MIRT1214745	hsa-miR-4264	CLIP-seq
MIRT2290169	hsa-miR-4271	CLIP-seq
MIRT1214746	hsa-miR-4417	CLIP-seq
MIRT2290170	hsa-miR-4437	CLIP-seq
MIRT2290171	hsa-miR-4458	CLIP-seq
MIRT1214748	hsa-miR-4488	CLIP-seq
MIRT1214749	hsa-miR-4492	CLIP-seq
MIRT1214750	hsa-miR-4498	CLIP-seq
MIRT2290172	hsa-miR-4500	CLIP-seq
MIRT2290173	hsa-miR-4529-5p	CLIP-seq
MIRT1214752	hsa-miR-4640-5p	CLIP-seq
MIRT2290174	hsa-miR-4674	CLIP-seq
MIRT2290175	hsa-miR-4691-3p	CLIP-seq
MIRT1214756	hsa-miR-4695-3p	CLIP-seq
MIRT1214757	hsa-miR-4697-5p	CLIP-seq
MIRT2290176	hsa-miR-4725-3p	CLIP-seq
MIRT1214758	hsa-miR-4726-5p	CLIP-seq
MIRT2290177	hsa-miR-4747-3p	CLIP-seq
MIRT1214761	hsa-miR-4763-3p	CLIP-seq
MIRT1214762	hsa-miR-4797-3p	CLIP-seq
MIRT1214763	hsa-miR-486-3p	CLIP-seq
MIRT2061818	hsa-miR-499a-5p	CLIP-seq
MIRT1214764	hsa-miR-526b	CLIP-seq
MIRT1214765	hsa-miR-541	CLIP-seq
MIRT2290178	hsa-miR-548m	CLIP-seq
MIRT2290179	hsa-miR-548p	CLIP-seq
MIRT2290180	hsa-miR-652	CLIP-seq
MIRT1214768	hsa-miR-654-5p	CLIP-seq
MIRT1214769	hsa-miR-762	CLIP-seq
MIRT2290181	hsa-miR-935	CLIP-seq
MIRT2290182	hsa-miR-98	CLIP-seq
MIRT2290154	hsa-let-7a	CLIP-seq
MIRT2290155	hsa-let-7b	CLIP-seq
MIRT2290156	hsa-let-7c	CLIP-seq
MIRT2290157	hsa-let-7d	CLIP-seq
MIRT2290158	hsa-let-7e	CLIP-seq
MIRT2290159	hsa-let-7f	CLIP-seq
MIRT2290160	hsa-let-7g	CLIP-seq
MIRT2290161	hsa-let-7i	CLIP-seq
MIRT2290162	hsa-miR-196a	CLIP-seq
MIRT2290163	hsa-miR-196b	CLIP-seq
MIRT2290164	hsa-miR-202	CLIP-seq
MIRT2290171	hsa-miR-4458	CLIP-seq
MIRT2290172	hsa-miR-4500	CLIP-seq
MIRT2290173	hsa-miR-4529-5p	CLIP-seq
MIRT1214752	hsa-miR-4640-5p	CLIP-seq
MIRT1214758	hsa-miR-4726-5p	CLIP-seq
MIRT1214764	hsa-miR-526b	CLIP-seq
MIRT2290181	hsa-miR-935	CLIP-seq
MIRT2290182	hsa-miR-98	CLIP-seq
MIRT2588423	hsa-miR-1266	CLIP-seq
MIRT1214739	hsa-miR-1909	CLIP-seq
MIRT2588424	hsa-miR-1976	CLIP-seq
MIRT2290165	hsa-miR-2110	CLIP-seq
MIRT2588425	hsa-miR-2115	CLIP-seq
MIRT2290166	hsa-miR-214	CLIP-seq
MIRT2290167	hsa-miR-3157-5p	CLIP-seq
MIRT2588426	hsa-miR-3168	CLIP-seq
MIRT2588427	hsa-miR-3169	CLIP-seq
MIRT2290168	hsa-miR-3180-5p	CLIP-seq
MIRT2588428	hsa-miR-3591-3p	CLIP-seq
MIRT2588429	hsa-miR-3622b-5p	CLIP-seq
MIRT1214743	hsa-miR-3679-3p	CLIP-seq
MIRT2588430	hsa-miR-3692	CLIP-seq
MIRT2588431	hsa-miR-370	CLIP-seq
MIRT2290169	hsa-miR-4271	CLIP-seq
MIRT2588432	hsa-miR-4304	CLIP-seq
MIRT1214746	hsa-miR-4417	CLIP-seq
MIRT2588433	hsa-miR-4435	CLIP-seq
MIRT2290170	hsa-miR-4437	CLIP-seq
MIRT2588434	hsa-miR-4453	CLIP-seq
MIRT2588435	hsa-miR-4467	CLIP-seq
MIRT2588436	hsa-miR-4515	CLIP-seq
MIRT2588437	hsa-miR-4518	CLIP-seq
MIRT2588438	hsa-miR-4538	CLIP-seq
MIRT2588439	hsa-miR-4633-3p	CLIP-seq
MIRT1214753	hsa-miR-4651	CLIP-seq
MIRT2290174	hsa-miR-4674	CLIP-seq
MIRT2290175	hsa-miR-4691-3p	CLIP-seq
MIRT2290176	hsa-miR-4725-3p	CLIP-seq
MIRT2588440	hsa-miR-4738-3p	CLIP-seq
MIRT2588441	hsa-miR-4747-5p	CLIP-seq
MIRT2588442	hsa-miR-491-5p	CLIP-seq
MIRT2061818	hsa-miR-499a-5p	CLIP-seq
MIRT2588443	hsa-miR-513c	CLIP-seq
MIRT2588444	hsa-miR-514b-5p	CLIP-seq
MIRT2588445	hsa-miR-520a-5p	CLIP-seq
MIRT2588446	hsa-miR-525-5p	CLIP-seq
MIRT1214765	hsa-miR-541	CLIP-seq
MIRT2588447	hsa-miR-548ae	CLIP-seq
MIRT2588448	hsa-miR-548aj	CLIP-seq
MIRT2588449	hsa-miR-548am	CLIP-seq
MIRT2290178	hsa-miR-548m	CLIP-seq
MIRT2588450	hsa-miR-548x	CLIP-seq
MIRT2588451	hsa-miR-600	CLIP-seq
MIRT1214766	hsa-miR-608	CLIP-seq
MIRT2588452	hsa-miR-622	CLIP-seq
MIRT2290180	hsa-miR-652	CLIP-seq
MIRT1214768	hsa-miR-654-5p	CLIP-seq
MIRT2588423	hsa-miR-1266	CLIP-seq
MIRT2588424	hsa-miR-1976	CLIP-seq
MIRT2290165	hsa-miR-2110	CLIP-seq
MIRT2588425	hsa-miR-2115	CLIP-seq
MIRT2290166	hsa-miR-214	CLIP-seq
MIRT2588426	hsa-miR-3168	CLIP-seq
MIRT2588427	hsa-miR-3169	CLIP-seq
MIRT2290168	hsa-miR-3180-5p	CLIP-seq
MIRT2588428	hsa-miR-3591-3p	CLIP-seq
MIRT1214743	hsa-miR-3679-3p	CLIP-seq
MIRT2588430	hsa-miR-3692	CLIP-seq
MIRT2588431	hsa-miR-370	CLIP-seq
MIRT2290169	hsa-miR-4271	CLIP-seq
MIRT2588434	hsa-miR-4453	CLIP-seq
MIRT2588436	hsa-miR-4515	CLIP-seq
MIRT2588437	hsa-miR-4518	CLIP-seq
MIRT2588438	hsa-miR-4538	CLIP-seq
MIRT2588439	hsa-miR-4633-3p	CLIP-seq
MIRT2290176	hsa-miR-4725-3p	CLIP-seq
MIRT2588440	hsa-miR-4738-3p	CLIP-seq
MIRT2061818	hsa-miR-499a-5p	CLIP-seq
MIRT2588443	hsa-miR-513c	CLIP-seq
MIRT2588444	hsa-miR-514b-5p	CLIP-seq
MIRT2588445	hsa-miR-520a-5p	CLIP-seq
MIRT2588446	hsa-miR-525-5p	CLIP-seq
MIRT2290178	hsa-miR-548m	CLIP-seq

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004812	Function	Aminoacyl-tRNA ligase activity	IEA
GO:0004827	Function	Proline-tRNA ligase activity	IBA
GO:0004827	Function	Proline-tRNA ligase activity	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0006412	Process	Translation	IEA
GO:0006418	Process	TRNA aminoacylation for protein translation	IEA
GO:0006433	Process	Prolyl-tRNA aminoacylation	IBA
GO:0006433	Process	Prolyl-tRNA aminoacylation	IEA
GO:0016874	Function	Ligase activity	IEA

MIM	HGNC	e!Ensembl
612036	30563	ENSG00000162396

Q7L3T8

Protein name

Probable proline--tRNA ligase, mitochondrial (EC 6.1.1.15) (Prolyl-tRNA synthetase) (ProRS) (Prolyl-tRNA synthetase 2, mitochondrial)

Protein function

Mitochondrial aminoacyl-tRNA synthetase that catalyzes the specific attachment of the proline amino acid (aa) to the homologous transfer RNA (tRNA), further participating in protein synthesis. The reaction occurs in a two steps: proline is first

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00587	tRNA-synt_2b	142 → 355	tRNA synthetase class II core domain (G, H, P, S and T)	Domain
PF03129	HGTP_anticodon	371 → 467	Anticodon binding domain	Domain

Sequence

MEGLLTRCRALPALATCSRQLSGYVPCRFHHCAPRRGRRLLLSRVFQPQNLREDRVLSLQ
DKSDDLTCKSQRLMLQVGLIYPASPGCYHLLPYTVRAMEKLVRVIDQEMQAIGGQKVNMP
SLSPAELWQATNRWDLMGKELLRLRDRHGKEYCLGPTHEEAITALIASQKKLSYKQLPFL
LYQVTRKFRDEPRPRFGLLRGREFYMKDMYTFDSSPEAAQQTYSLVCDAYCSLFNKLGLP
FVKVQADVGTIGGTVSHEFQLPVDIGEDRLAICPRCSFSANMETLDLSQMNCPACQGPLT
KTKGIEVGHTFYLGTKYSSIFNAQFTNVCGKPTLAEMGCYGLGVTRILAAAIEVLSTEDC
VRWPSLLAPYQACLIPPKKGSKEQAASELIGQLYDHITEAVPQLHGEVLLDDRTHLTIGN
RLKDANKFGYPFVIIAGKRALEDPAHFEVWCQNTGEVAFLTKDGVMDLLTPVQTV

Sequence length

475

Interactions

View interactions

	KEGG
	Aminoacyl-tRNA biosynthesis

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy, 75	Pathogenic; Likely pathogenic	rs730882152, rs2524474470	RCV000162032 RCV003993622	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (10)

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.
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	CTD, ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARS2-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (31)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alpers Syndrome (disorder)	Alpers Syndrome	BEFREE	28077841, 29915213	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alpers Syndrome (disorder)	Alpers Syndrome	GENOMICS_ENGLAND_DG	28077841, 29915213	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	27348859	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	29915213	★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28077841	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	29410512	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28077841, 29915213	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	29410512	★★★★★ ★☆☆☆☆ Found in Text Mining only

PARS2 (prolyl-tRNA synthetase 2, mitochondrial)