ABHD12 (abhydrolase domain containing 12, lysophospholipase)

Gene

• Entrez ID: 26090
• Gene name: Abhydrolase domain containing 12, lysophospholipase
• Gene symbol: ABHD12
• Synonyms (NCBI Gene): ABHD12A, BEM46L2, C20orf22, PHARC, dJ965G21.2, hABHD12
• Chromosome: 20
• Chromosome location: 20p11.21
• Summary: This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabinoid system is involved in a wide range of physiologica

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11904930	C>G,T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs41306784	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs146028040	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant
rs188888939	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant
rs267606624	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs397704714	->CTTAGCT	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs565270893	AACA>-	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs587777602	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs587777603	C>T	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, stop gained
rs587777604	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs745990956	G>A	Likely-pathogenic	3 prime UTR variant, stop gained, coding sequence variant, genic downstream transcript variant, intron variant, non coding transcript variant
rs757670984	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs758316679	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs776800006	G>A	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant
rs886039872	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1285567657	->A	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant
rs1303044966	G>A,C	Pathogenic	Stop gained, non coding transcript variant, synonymous variant, 5 prime UTR variant, coding sequence variant
rs1555810299	AATGTA>-	Likely-pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant, genic downstream transcript variant
rs1555811525	T>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1555813914	TC>AAA	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs1555817157	TCTTCCTCAGGCG>-	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs1568725951	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, 5 prime UTR variant, intron variant
rs1600823029	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023580	hsa-miR-1-3p	Proteomics	18668040
MIRT042640	hsa-miR-423-3p	CLASH	23622248
MIRT042277	hsa-miR-484	CLASH	23622248
MIRT718097	hsa-miR-4485-5p	HITS-CLIP	19536157
MIRT718096	hsa-miR-1205	HITS-CLIP	19536157
MIRT718095	hsa-miR-619-5p	HITS-CLIP	19536157
MIRT718094	hsa-miR-6506-5p	HITS-CLIP	19536157
MIRT718093	hsa-miR-6132	HITS-CLIP	19536157
MIRT718092	hsa-miR-6836-5p	HITS-CLIP	19536157
MIRT718091	hsa-miR-1909-3p	HITS-CLIP	19536157
MIRT718090	hsa-miR-6722-3p	HITS-CLIP	19536157
MIRT718089	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT718088	hsa-miR-661	HITS-CLIP	19536157
MIRT718087	hsa-miR-4713-3p	HITS-CLIP	19536157
MIRT718086	hsa-miR-638	HITS-CLIP	19536157
MIRT718085	hsa-miR-450b-3p	HITS-CLIP	19536157
MIRT718084	hsa-miR-769-3p	HITS-CLIP	19536157
MIRT718097	hsa-miR-4485-5p	HITS-CLIP	19536157
MIRT718096	hsa-miR-1205	HITS-CLIP	19536157
MIRT718095	hsa-miR-619-5p	HITS-CLIP	19536157
MIRT718094	hsa-miR-6506-5p	HITS-CLIP	19536157
MIRT718093	hsa-miR-6132	HITS-CLIP	19536157
MIRT718092	hsa-miR-6836-5p	HITS-CLIP	19536157
MIRT718091	hsa-miR-1909-3p	HITS-CLIP	19536157
MIRT718090	hsa-miR-6722-3p	HITS-CLIP	19536157
MIRT718089	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT718088	hsa-miR-661	HITS-CLIP	19536157
MIRT718087	hsa-miR-4713-3p	HITS-CLIP	19536157
MIRT718086	hsa-miR-638	HITS-CLIP	19536157
MIRT718085	hsa-miR-450b-3p	HITS-CLIP	19536157
MIRT718084	hsa-miR-769-3p	HITS-CLIP	19536157
MIRT759517	hsa-miR-1264	CLIP-seq
MIRT759518	hsa-miR-1266	CLIP-seq
MIRT759519	hsa-miR-150	CLIP-seq
MIRT759520	hsa-miR-1915	CLIP-seq
MIRT759521	hsa-miR-3151	CLIP-seq
MIRT759522	hsa-miR-3156-5p	CLIP-seq
MIRT759523	hsa-miR-3180	CLIP-seq
MIRT759524	hsa-miR-3180-3p	CLIP-seq
MIRT759525	hsa-miR-3184	CLIP-seq
MIRT759526	hsa-miR-3196	CLIP-seq
MIRT759527	hsa-miR-3664-3p	CLIP-seq
MIRT759528	hsa-miR-3689d	CLIP-seq
MIRT759529	hsa-miR-423-5p	CLIP-seq
MIRT759530	hsa-miR-4428	CLIP-seq
MIRT759531	hsa-miR-4518	CLIP-seq
MIRT759532	hsa-miR-4690-3p	CLIP-seq
MIRT759533	hsa-miR-4695-3p	CLIP-seq
MIRT759534	hsa-miR-4713-5p	CLIP-seq
MIRT759535	hsa-miR-4715-3p	CLIP-seq
MIRT759536	hsa-miR-4722-3p	CLIP-seq
MIRT759537	hsa-miR-4763-5p	CLIP-seq
MIRT759538	hsa-miR-486-3p	CLIP-seq
MIRT759539	hsa-miR-532-3p	CLIP-seq
MIRT1545024	hsa-miR-1289	CLIP-seq
MIRT1545025	hsa-miR-3191	CLIP-seq
MIRT1545026	hsa-miR-3198	CLIP-seq
MIRT1545027	hsa-miR-4294	CLIP-seq
MIRT1545028	hsa-miR-4309	CLIP-seq
MIRT1545029	hsa-miR-4459	CLIP-seq
MIRT1545030	hsa-miR-4722-5p	CLIP-seq
MIRT1545031	hsa-miR-4779	CLIP-seq
MIRT1545032	hsa-miR-544	CLIP-seq
MIRT2165342	hsa-miR-3200-5p	CLIP-seq
MIRT2165343	hsa-miR-3907	CLIP-seq
MIRT2165344	hsa-miR-4649-3p	CLIP-seq
MIRT2442942	hsa-miR-1306	CLIP-seq
MIRT2442943	hsa-miR-182	CLIP-seq
MIRT2442944	hsa-miR-412	CLIP-seq
MIRT2442945	hsa-miR-4277	CLIP-seq
MIRT2442946	hsa-miR-4470	CLIP-seq
MIRT2467353	hsa-miR-1909	CLIP-seq
MIRT2467354	hsa-miR-1972	CLIP-seq
MIRT2165342	hsa-miR-3200-5p	CLIP-seq
MIRT2467355	hsa-miR-3692	CLIP-seq
MIRT2165343	hsa-miR-3907	CLIP-seq
MIRT2467356	hsa-miR-3925-3p	CLIP-seq
MIRT2467357	hsa-miR-4315	CLIP-seq
MIRT2467358	hsa-miR-4418	CLIP-seq
MIRT2165344	hsa-miR-4649-3p	CLIP-seq
MIRT2467359	hsa-miR-4650-5p	CLIP-seq
MIRT759535	hsa-miR-4715-3p	CLIP-seq
MIRT2467360	hsa-miR-509-3-5p	CLIP-seq
MIRT2467361	hsa-miR-509-5p	CLIP-seq
MIRT2467362	hsa-miR-766	CLIP-seq
MIRT2467353	hsa-miR-1909	CLIP-seq
MIRT2467354	hsa-miR-1972	CLIP-seq
MIRT2165342	hsa-miR-3200-5p	CLIP-seq
MIRT2467355	hsa-miR-3692	CLIP-seq
MIRT2467357	hsa-miR-4315	CLIP-seq
MIRT2467358	hsa-miR-4418	CLIP-seq
MIRT2467359	hsa-miR-4650-5p	CLIP-seq
MIRT759535	hsa-miR-4715-3p	CLIP-seq
MIRT2467360	hsa-miR-509-3-5p	CLIP-seq
MIRT2467361	hsa-miR-509-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004620	Function	Phospholipase activity	IDA	30643283
GO:0004622	Function	Phosphatidylcholine lysophospholipase activity	IBA
GO:0004622	Function	Phosphatidylcholine lysophospholipase activity	IDA	25290914, 30237167
GO:0004622	Function	Phosphatidylcholine lysophospholipase activity	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	30237167
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006660	Process	Phosphatidylserine catabolic process	IBA
GO:0006660	Process	Phosphatidylserine catabolic process	IDA	30643283
GO:0006660	Process	Phosphatidylserine catabolic process	IEA
GO:0006660	Process	Phosphatidylserine catabolic process	IEA
GO:0007628	Process	Adult walking behavior	IEA
GO:0008474	Function	Palmitoyl-(protein) hydrolase activity	IEA
GO:0009395	Process	Phospholipid catabolic process	IDA	30237167
GO:0009395	Process	Phospholipid catabolic process	IEA
GO:0010996	Process	Response to auditory stimulus	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0019369	Process	Arachidonate metabolic process	TAS
GO:0032281	Component	AMPA glutamate receptor complex	IEA
GO:0032839	Component	Dendrite cytoplasm	IEA
GO:0046464	Process	Acylglycerol catabolic process	IDA	22969151
GO:0046464	Process	Acylglycerol catabolic process	IEA
GO:0046475	Process	Glycerophospholipid catabolic process	IDA	25290914
GO:0047372	Function	Monoacylglycerol lipase activity	IBA
GO:0047372	Function	Monoacylglycerol lipase activity	IDA	22969151, 25290914, 30237167
GO:0047372	Function	Monoacylglycerol lipase activity	IEA
GO:0047372	Function	Monoacylglycerol lipase activity	TAS
GO:0050727	Process	Regulation of inflammatory response	IEA
GO:0052651	Process	Monoacylglycerol catabolic process	IBA
GO:0052651	Process	Monoacylglycerol catabolic process	IDA	25290914, 30237167
GO:0052651	Process	Monoacylglycerol catabolic process	IEA
GO:0098734	Process	Macromolecule depalmitoylation	IEA

Other IDs

• MIM: 613599
• HGNC: 15868
• e!Ensembl: ENSG00000100997

Protein

• UniProt ID: Q8N2K0
• Protein name: Lysophosphatidylserine lipase ABHD12 (EC 3.1.-.-) (2-arachidonoylglycerol hydrolase ABHD12) (Abhydrolase domain-containing protein 12) (hABHD12) (Monoacylglycerol lipase ABHD12) (EC 3.1.1.23) (Oxidized phosphatidylserine lipase ABHD12) (EC 3.1.-.-)
• Protein function: Lysophosphatidylserine (LPS) lipase that mediates the hydrolysis of lysophosphatidylserine, a class of signaling lipids that regulates immunological and neurological processes (PubMed:25290914, PubMed:30237167, PubMed:30420694, PubMed:30643283,
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12146	Hydrolase_4	165 → 297	Serine aminopeptidase, S33	Family

• Sequence:

  MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGPAAAEPRCAADAGMKR
  ALGRRKGVWLRLRKILFCVLGLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFIDLKKPQDQ
  GLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQMWYEDALASSHPIILYLHGNAGT
  RGGDHRVELYKVLSSLGYHVVTFDYRGWGDSVGTPSERGMTYDALHVFDWIKARSGDNPV
  YIWGHSLGTGVATNLVRRLCERETPPDALILESPFTNIREEAKSHPFSVIYRYFPGFDWF
  FLDPITSSGIKFANDENVKHISCPLLILHAEDDPVVPFQLGRKLYSIAAPARSFRDFKVQ
  FVPFHSDLGYRHKYIYKSPELPRILREFLGKSEPEHQH

• Sequence length: 398

Pathways

Reactome:

Arachidonate production from DAG

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
Cone dystrophy	Pathogenic	rs1568725951	RCV000678517	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PHARC syndrome	Pathogenic; Likely pathogenic	rs868586681, rs2146035624, rs1555813914, rs397704714, rs267606624, rs587777602, rs587777603, rs2515767848, rs2515791028, rs886039872, rs1555817157, rs1555811525, rs776800006, rs1303044966, rs1555810299	RCV001782038 RCV005863538 RCV000000041 RCV000000043 RCV000000044 RCV000132767 RCV000132768 RCV003164454 RCV003228068 RCV000256396 RCV000585749 RCV001542617 RCV000656405 RCV000677260 RCV000656406	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs1555811525, rs758316679, rs2088652401, rs1300228825, rs2089115544	RCV000505023 RCV000504760 RCV001073985 RCV001074217 RCV001074221	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ABHD12-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndromic retinitis pigmentosa	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ataxia	Ataxia	Pubtator	22938382, 34573385	Associate	★☆☆☆☆ Found in Text Mining only
Ataxias, Hereditary	Ataxia	GENOMICS_ENGLAND_DG	27604308		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	22938382, 23297193, 24027063, 29571850		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	22938382, 24027063, 34573385, 39826350	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	CLINVAR_DG	29571850		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone Dystrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital pes cavus	Congenital Pes Cavus	CLINVAR_DG	29571850		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	24027063		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	CLINVAR_DG	29571850		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	24027063	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	22938382, 34021019, 34573385, 37803361, 39826350	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	22938382	Stimulate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	34223797	Associate	★☆☆☆☆ Found in Text Mining only
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	Methylmalonic acidemia with homocystinuria	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30420694		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	20797687, 23297193, 24027063, 27890673, 31213981		★☆☆☆☆ Found in Text Mining only
Neuropathy ataxia and retinitis pigmentosa	Neuropathy, ataxia, and retinitis pigmentosa	Pubtator	37803361	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	GENOMICS_ENGLAND_DG	24697911		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	CLINVAR_DG	29571850		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
obsolete Rod-cone dystrophy	Rod-cone dystrophy	CLINVAR_DG	29571850		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	GENOMICS_ENGLAND_DG	24697911		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Optic Atrophy	Optic Atrophy	CLINVAR_DG	29571850		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Optic Atrophy	Optic Atrophy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Peripheral demyelinating neuropathy	Demyelinating neuropathy	GENOMICS_ENGLAND_DG	24697911		★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	BEFREE	29571850		★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	22938382, 34573385, 37803361, 39826350	Associate	★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	24027063	Stimulate	★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	22938382, 23297193, 24027063, 27890673, 28448692, 29571850		★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	CLINVAR_DG	29571850		★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	BEFREE	20797687, 23297193, 25743180, 27890673, 30237167, 30974196, 31213981		★☆☆☆☆ Found in Text Mining only
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	ORPHANET_DG	20797687		★☆☆☆☆ Found in Text Mining only
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	UNIPROT_DG	20797687, 22938382, 24027063, 24697911, 25743180, 27890673, 29571850		★☆☆☆☆ Found in Text Mining only
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	GENOMICS_ENGLAND_DG	20797687, 24697911, 29571850		★☆☆☆☆ Found in Text Mining only
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	CLINGEN_DG	20797687, 22938382, 24027063, 25743180, 27890673, 28448692		★☆☆☆☆ Found in Text Mining only
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	CLINVAR_DG	29571850		★☆☆☆☆ Found in Text Mining only
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Orphanet			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	29571850		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	34021019	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG	22938382		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	22938382, 34573385, 39826350	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	24697911		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG	24697911		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	GENOMICS_ENGLAND_DG	24697911		★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	CLINVAR_DG	29571850		★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	GENOMICS_ENGLAND_DG	24697911		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	CLINVAR_DG	29571850		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subcapsular cataract	Subcapsular cataract	GENOMICS_ENGLAND_DG	24697911		★☆☆☆☆ Found in Text Mining only
Subcapsular cataract	Subcapsular cataract	CLINVAR_DG	29571850		★☆☆☆☆ Found in Text Mining only
Subcapsular cataract	Subcapsular cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Usher Syndrome	Usher Syndrome	BEFREE	25743180, 29625443		★☆☆☆☆ Found in Text Mining only
Usher Syndrome, Type III	Usher Syndrome	BEFREE	22938382, 30974196		★☆☆☆☆ Found in Text Mining only
Usher Syndromes	Usher syndrome	Pubtator	22938382, 34223797	Associate	★☆☆☆☆ Found in Text Mining only