OAT (ornithine aminotransferase)

Gene

• Entrez ID: 4942
• Gene name: Ornithine aminotransferase
• Gene symbol: OAT
• Synonyms (NCBI Gene): GACR, HOGA, OATASE, OKT
• Chromosome: 10
• Chromosome location: 10q26.13
• Summary: This gene encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme in the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA. Mutations that result in a defi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800456	C>A,G,T	Conflicting-interpretations-of-pathogenicity, benign, likely-pathogenic	Synonymous variant, coding sequence variant, missense variant
rs121965034	C>T	Pathogenic	5 prime UTR variant, missense variant, initiator codon variant, intron variant
rs121965035	CAG>-	Pathogenic	Inframe deletion, 5 prime UTR variant, coding sequence variant
rs121965036	G>A,C	Pathogenic, likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs121965037	A>G	Pathogenic	Intron variant, missense variant, 5 prime UTR variant, coding sequence variant
rs121965038	C>A	Pathogenic	5 prime UTR variant, intron variant, missense variant, coding sequence variant
rs121965039	C>A,T	Pathogenic	Intron variant, missense variant, 5 prime UTR variant, coding sequence variant
rs121965040	C>G	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs121965041	C>G	Pathogenic	Missense variant, coding sequence variant
rs121965042	C>T	Pathogenic	Missense variant, coding sequence variant
rs121965043	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs121965044	G>A	Pathogenic	Missense variant, coding sequence variant
rs121965045	C>G	Pathogenic	Missense variant, coding sequence variant
rs121965046	T>C	Pathogenic	Missense variant, coding sequence variant
rs121965047	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121965048	G>T	Pathogenic	Intron variant, missense variant, 5 prime UTR variant, coding sequence variant
rs121965049	G>A	Pathogenic	Missense variant, coding sequence variant
rs121965050	C>T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs121965051	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121965052	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs121965053	C>T	Pathogenic	Missense variant, coding sequence variant
rs121965054	A>G	Pathogenic	Missense variant, coding sequence variant
rs121965055	C>A	Pathogenic	Stop gained, coding sequence variant
rs121965056	A>G,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs121965057	G>C	Pathogenic	Stop gained, coding sequence variant
rs121965058	G>A	Pathogenic	Stop gained, coding sequence variant
rs121965059	G>A	Pathogenic	Missense variant, coding sequence variant
rs121965060	G>C	Pathogenic	5 prime UTR variant, intron variant, missense variant, coding sequence variant
rs138895801	G>A,C	Conflicting-interpretations-of-pathogenicity	Stop gained, synonymous variant, coding sequence variant
rs200068769	G>A	Pathogenic	Coding sequence variant, stop gained
rs267606923	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs267606924	C>T	Pathogenic	Coding sequence variant, stop gained
rs267606925	G>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs386833594	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs386833595	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs386833596	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs386833597	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs386833598	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs386833599	G>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant, intron variant
rs386833601	G>C	Likely-pathogenic	Intron variant
rs386833602	G>T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, missense variant
rs386833603	C>T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, missense variant
rs386833604	T>C	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, missense variant
rs386833605	C>T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, missense variant
rs386833606	CTC>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, inframe deletion, intron variant
rs386833607	->A	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant, intron variant
rs386833608	T>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs386833609	CTCCTATCA>-	Pathogenic-likely-pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, splice acceptor variant
rs386833610	C>T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, missense variant
rs386833611	TTCACGGTATAGCCC>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, inframe deletion, intron variant
rs386833612	CCCCA>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs386833613	G>A	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs386833614	C>A	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs386833615	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs386833616	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs386833617	G>A,C,T	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant, missense variant
rs386833618	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs386833619	T>C	Likely-pathogenic	Splice acceptor variant
rs386833620	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs386833621	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs386833622	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs386833623	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs759979499	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs770390524	C>T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs1057518927	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1554867698	ACGTACCT>TTAA	Likely-pathogenic	5 prime UTR variant, intron variant, coding sequence variant, splice donor variant
rs1554867854	->CTCC	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, frameshift variant
rs1564737136	CTACATCCCATAAGTAAATACCTAAAATACATAAGAAAGGAAAATAATTTTAGACAATT>-	Likely-pathogenic	5 prime UTR variant, intron variant, splice acceptor variant, coding sequence variant
rs1589698958	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1589700702	C>T	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002736	hsa-miR-1-3p	pSILAC	18668040
MIRT002736	hsa-miR-1-3p	Microarray	15685193
MIRT002736	hsa-miR-1-3p	Proteomics	18668040
MIRT002736	hsa-miR-1-3p	Microarray	15685193
MIRT048267	hsa-miR-196a-5p	CLASH	23622248
MIRT044197	hsa-miR-99b-5p	CLASH	23622248
MIRT1201249	hsa-miR-330-3p	CLIP-seq
MIRT1201250	hsa-miR-4736	CLIP-seq
MIRT1201251	hsa-miR-520d-5p	CLIP-seq
MIRT1201252	hsa-miR-524-5p	CLIP-seq
MIRT1201253	hsa-miR-657	CLIP-seq
MIRT2058158	hsa-miR-1323	CLIP-seq
MIRT2058159	hsa-miR-323-3p	CLIP-seq
MIRT2058160	hsa-miR-4427	CLIP-seq
MIRT2058161	hsa-miR-548o	CLIP-seq
MIRT2058162	hsa-miR-885-5p	CLIP-seq
MIRT1201249	hsa-miR-330-3p	CLIP-seq
MIRT1201250	hsa-miR-4736	CLIP-seq
MIRT1201253	hsa-miR-657	CLIP-seq
MIRT1201251	hsa-miR-520d-5p	CLIP-seq
MIRT1201252	hsa-miR-524-5p	CLIP-seq
MIRT1201249	hsa-miR-330-3p	CLIP-seq
MIRT1201250	hsa-miR-4736	CLIP-seq
MIRT1201251	hsa-miR-520d-5p	CLIP-seq
MIRT1201252	hsa-miR-524-5p	CLIP-seq
MIRT1201253	hsa-miR-657	CLIP-seq
MIRT2584669	hsa-miR-1	CLIP-seq
MIRT2584670	hsa-miR-1207-3p	CLIP-seq
MIRT2584671	hsa-miR-1252	CLIP-seq
MIRT2584672	hsa-miR-1303	CLIP-seq
MIRT2584673	hsa-miR-149	CLIP-seq
MIRT2584674	hsa-miR-206	CLIP-seq
MIRT2584675	hsa-miR-3074-3p	CLIP-seq
MIRT2584676	hsa-miR-3120-5p	CLIP-seq
MIRT2584677	hsa-miR-3144-3p	CLIP-seq
MIRT2584678	hsa-miR-3163	CLIP-seq
MIRT2584679	hsa-miR-3187-3p	CLIP-seq
MIRT2584680	hsa-miR-320a	CLIP-seq
MIRT2584681	hsa-miR-320b	CLIP-seq
MIRT2584682	hsa-miR-320c	CLIP-seq
MIRT2584683	hsa-miR-320d	CLIP-seq
MIRT2584684	hsa-miR-340	CLIP-seq
MIRT2584685	hsa-miR-3613-3p	CLIP-seq
MIRT2584686	hsa-miR-3673	CLIP-seq
MIRT2584687	hsa-miR-3913-3p	CLIP-seq
MIRT2584688	hsa-miR-3915	CLIP-seq
MIRT2584689	hsa-miR-3925-3p	CLIP-seq
MIRT2584690	hsa-miR-3926	CLIP-seq
MIRT2584691	hsa-miR-3928	CLIP-seq
MIRT2584692	hsa-miR-4267	CLIP-seq
MIRT2584693	hsa-miR-4272	CLIP-seq
MIRT2584694	hsa-miR-4275	CLIP-seq
MIRT2584695	hsa-miR-4421	CLIP-seq
MIRT2584696	hsa-miR-4429	CLIP-seq
MIRT2584697	hsa-miR-4432	CLIP-seq
MIRT2584698	hsa-miR-4435	CLIP-seq
MIRT2584699	hsa-miR-4476	CLIP-seq
MIRT2584700	hsa-miR-4517	CLIP-seq
MIRT2584701	hsa-miR-455-5p	CLIP-seq
MIRT2584702	hsa-miR-4670-3p	CLIP-seq
MIRT2584703	hsa-miR-4694-5p	CLIP-seq
MIRT2584704	hsa-miR-4700-3p	CLIP-seq
MIRT2584705	hsa-miR-4701-5p	CLIP-seq
MIRT2584706	hsa-miR-4709-3p	CLIP-seq
MIRT2584707	hsa-miR-4724-5p	CLIP-seq
MIRT2584708	hsa-miR-4742-3p	CLIP-seq
MIRT2584709	hsa-miR-485-5p	CLIP-seq
MIRT2584710	hsa-miR-489	CLIP-seq
MIRT2584711	hsa-miR-5095	CLIP-seq
MIRT2584712	hsa-miR-5096	CLIP-seq
MIRT2584713	hsa-miR-548ac	CLIP-seq
MIRT2584714	hsa-miR-548ae	CLIP-seq
MIRT2584715	hsa-miR-548aj	CLIP-seq
MIRT2584716	hsa-miR-548am	CLIP-seq
MIRT2584717	hsa-miR-548d-3p	CLIP-seq
MIRT2584718	hsa-miR-548s	CLIP-seq
MIRT2584719	hsa-miR-548x	CLIP-seq
MIRT2584720	hsa-miR-548z	CLIP-seq
MIRT2584721	hsa-miR-561	CLIP-seq
MIRT2584722	hsa-miR-586	CLIP-seq
MIRT2584723	hsa-miR-588	CLIP-seq
MIRT2584724	hsa-miR-613	CLIP-seq
MIRT2584725	hsa-miR-626	CLIP-seq
MIRT2584726	hsa-miR-766	CLIP-seq
MIRT2584727	hsa-miR-877	CLIP-seq
MIRT2584728	hsa-miR-889	CLIP-seq
MIRT2584669	hsa-miR-1	CLIP-seq
MIRT2584670	hsa-miR-1207-3p	CLIP-seq
MIRT2584671	hsa-miR-1252	CLIP-seq
MIRT2584672	hsa-miR-1303	CLIP-seq
MIRT2584673	hsa-miR-149	CLIP-seq
MIRT2584674	hsa-miR-206	CLIP-seq
MIRT2584675	hsa-miR-3074-3p	CLIP-seq
MIRT2584676	hsa-miR-3120-5p	CLIP-seq
MIRT2584677	hsa-miR-3144-3p	CLIP-seq
MIRT2584678	hsa-miR-3163	CLIP-seq
MIRT2584679	hsa-miR-3187-3p	CLIP-seq
MIRT2584680	hsa-miR-320a	CLIP-seq
MIRT2584681	hsa-miR-320b	CLIP-seq
MIRT2584682	hsa-miR-320c	CLIP-seq
MIRT2584683	hsa-miR-320d	CLIP-seq
MIRT2584684	hsa-miR-340	CLIP-seq
MIRT2584685	hsa-miR-3613-3p	CLIP-seq
MIRT2584686	hsa-miR-3673	CLIP-seq
MIRT2584687	hsa-miR-3913-3p	CLIP-seq
MIRT2584688	hsa-miR-3915	CLIP-seq
MIRT2584689	hsa-miR-3925-3p	CLIP-seq
MIRT2584690	hsa-miR-3926	CLIP-seq
MIRT2584691	hsa-miR-3928	CLIP-seq
MIRT2584692	hsa-miR-4267	CLIP-seq
MIRT2584693	hsa-miR-4272	CLIP-seq
MIRT2584694	hsa-miR-4275	CLIP-seq
MIRT2584695	hsa-miR-4421	CLIP-seq
MIRT2584696	hsa-miR-4429	CLIP-seq
MIRT2584697	hsa-miR-4432	CLIP-seq
MIRT2584698	hsa-miR-4435	CLIP-seq
MIRT2584700	hsa-miR-4517	CLIP-seq
MIRT2584701	hsa-miR-455-5p	CLIP-seq
MIRT2584702	hsa-miR-4670-3p	CLIP-seq
MIRT2584703	hsa-miR-4694-5p	CLIP-seq
MIRT2584704	hsa-miR-4700-3p	CLIP-seq
MIRT2584705	hsa-miR-4701-5p	CLIP-seq
MIRT2584706	hsa-miR-4709-3p	CLIP-seq
MIRT2584707	hsa-miR-4724-5p	CLIP-seq
MIRT2584708	hsa-miR-4742-3p	CLIP-seq
MIRT2584709	hsa-miR-485-5p	CLIP-seq
MIRT2584710	hsa-miR-489	CLIP-seq
MIRT2584711	hsa-miR-5095	CLIP-seq
MIRT2584712	hsa-miR-5096	CLIP-seq
MIRT2584713	hsa-miR-548ac	CLIP-seq
MIRT2584714	hsa-miR-548ae	CLIP-seq
MIRT2584715	hsa-miR-548aj	CLIP-seq
MIRT2584716	hsa-miR-548am	CLIP-seq
MIRT2584717	hsa-miR-548d-3p	CLIP-seq
MIRT2584718	hsa-miR-548s	CLIP-seq
MIRT2584719	hsa-miR-548x	CLIP-seq
MIRT2584720	hsa-miR-548z	CLIP-seq
MIRT2584721	hsa-miR-561	CLIP-seq
MIRT2584722	hsa-miR-586	CLIP-seq
MIRT2584723	hsa-miR-588	CLIP-seq
MIRT2584724	hsa-miR-613	CLIP-seq
MIRT2584725	hsa-miR-626	CLIP-seq
MIRT2584726	hsa-miR-766	CLIP-seq
MIRT2584727	hsa-miR-877	CLIP-seq
MIRT2584728	hsa-miR-889	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SP1	Unknown	2373169
TFAP2A	Unknown	2373169

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004587	Function	Ornithine aminotransferase activity	IBA
GO:0004587	Function	Ornithine aminotransferase activity	IEA
GO:0004587	Function	Ornithine aminotransferase activity	IMP	1737786, 23076989
GO:0004587	Function	Ornithine aminotransferase activity	TAS	3456579
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IDA	23076989
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	NAS	3456579
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0007601	Process	Visual perception	TAS	2793865
GO:0008483	Function	Transaminase activity	IEA
GO:0010121	Process	L-arginine catabolic process to proline via ornithine	IBA
GO:0016740	Function	Transferase activity	IEA
GO:0019544	Process	L-arginine catabolic process to L-glutamate	IBA
GO:0030170	Function	Pyridoxal phosphate binding	IBA
GO:0030170	Function	Pyridoxal phosphate binding	IEA
GO:0042802	Function	Identical protein binding	IBA
GO:0042802	Function	Identical protein binding	IPI	23076989
GO:0055129	Process	L-proline biosynthetic process	IEA

Other IDs

• MIM: 613349
• HGNC: 8091
• e!Ensembl: ENSG00000065154

Protein

• UniProt ID: P04181
• Protein name: Ornithine aminotransferase, mitochondrial (EC 2.6.1.13) (Ornithine delta-aminotransferase) (Ornithine--oxo-acid aminotransferase) [Cleaved into: Ornithine aminotransferase, hepatic form; Ornithine aminotransferase, renal form]
• Protein function: Catalyzes the reversible interconversion of L-ornithine and 2-oxoglutarate to L-glutamate semialdehyde and L-glutamate.
• PDB: 1GBN, 1OAT, 2BYJ, 2BYL, 2CAN, 2OAT, 5VWO, 6HX7, 6OIA, 6V8C, 6V8D, 7JX9, 7LK0, 7LK1, 7LNM, 7LOM, 7LON, 7T9Z, 7TA0, 7TA1, 7TED, 7TEV, 7TFP, 8EZ1, 8V9M
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00202	Aminotran_3	50 → 436	Aminotransferase class-III	Domain

• Sequence:

  MFSKLAHLQRFAVLSRGVHSSVASATSVATKKTVQGPPTSDDIFEREYKYGAHNYHPLPV
  ALERGKGIYLWDVEGRKYFDFLSSYSAVNQGHCHPKIVNALKSQVDKLTLTSRAFYNNVL
  GEYEEYITKLFNYHKVLPMNTGVEAGETACKLARKWGYTVKGIQKYKAKIVFAAGNFWGR
  TLSAISSSTDPTSYDGFGPFMPGFDIIPYNDLPALERALQDPNVAAFMVEPIQGEAGVVV
  PDPGYLMGVRELCTRHQVLFIADEIQTGLARTGRWLAVDYENVRPDIVLLGKALSGGLYP
  VSAVLCDDDIMLTIKPGEHGSTYGGNPLGCRVAIAALEVLEEENLAENADKLGIILRNEL
  MKLPSDVVTAVRGKGLLNAIVIKETKDWDAWKVCLRLRDNGLLAKPTHGDIIRFAPPLVI
  KEDELRESIEIINKTILSF

• Sequence length: 439

Pathways

KEGG:

Arginine and proline metabolism
Metabolic pathways

Reactome:

Glutamate and glutamine metabolism

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
Abnormal choroid morphology	Likely pathogenic	rs1057518927	RCV000415047	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia	Likely pathogenic; Pathogenic	rs121965047, rs121965059	RCV000000185 RCV000000204	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperornithinemia	Pathogenic; Likely pathogenic	rs1283361732, rs1951451290, rs121965043, rs121965051, rs121965058, rs121965059, rs2494500513, rs200068769, rs386833598, rs386833601	RCV005057358 RCV002307832 RCV002509140 RCV003234882 RCV002271362 RCV004689396 RCV005406579 RCV002298643 RCV003317066 RCV005406791	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Optic atrophy	Likely pathogenic	rs1057518927	RCV000415047	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ornithine aminotransferase deficiency	Likely pathogenic; Pathogenic	rs1951420329, rs2134476814, rs2134440057, rs1285313333, rs2134456707, rs2134465433, rs1283361732, rs2134462662, rs551144161, rs2134460074, rs2134456729, rs2134440572, rs1951417940, rs2134476898, rs2134478524, rs770390524, rs2134456170, rs752974288, rs1951458291, rs2134440659, rs1564731646, rs2134452962, rs1951451290, rs2134450136, rs1468939642, rs1432416419, rs121965034, rs386833599, rs121965035, rs121965036, rs121965037, rs121965038, rs121965040, rs121965041, rs121965042, rs121965043, rs121965044, rs121965046, rs121965047, rs121965049, rs386833609, rs121965050, rs121965051, rs121965052, rs121965053, rs386833596, rs121965055, rs121965056, rs121965057, rs121965058, rs386833600, rs267606923, rs267606924, rs121965059, rs267606925, rs11553554, rs2494500513, rs780716161, rs1270151043, rs2494523429, rs2494428598, rs2494500603, rs2494501124, rs2494464522, rs750535638, rs2494464815, rs2494428671, rs1589700702, rs2494476622, rs2494476025, rs138895801, rs2494457103, rs2494476827, rs754489812, rs760716065, rs1951415811, rs2494443851, rs2494464646, rs2494502096, rs2494477759, rs2494465488, rs2494476718, rs2494525637, rs2494457225, rs2494465030, rs2494503071, rs2494428527, rs1375779674, rs1273610101, rs1057518927, rs1554867854, rs200068769, rs1554867698, rs1564737136, rs759979499, rs386833594, rs386833597, rs386833598, rs386833601, rs386833602, rs386833604, rs386833605, rs386833606, rs386833607, rs386833608, rs386833610, rs386833611, rs386833612, rs386833613, rs386833616, rs386833617, rs386833618, rs386833619, rs386833621, rs386833620, rs386833622, rs386833623, rs1589698958, rs1951414426, rs890106099, rs1951546023, rs1951389692, rs1195885907	RCV001377882 RCV001379927 RCV001387260 RCV001389086 RCV001384985 RCV001390197 RCV001385599 RCV001591807 RCV001966080 RCV001941738 RCV001946739 RCV001992720 RCV001908681 RCV001927264 RCV002007279 RCV002000369 RCV001993136 RCV001893527 RCV002037794 RCV001943000 RCV002030208 RCV001939703 RCV002014178 RCV001885922 RCV001896982 RCV001953603 RCV000000169 RCV000000170 RCV000000171 RCV000000172 RCV000000173 RCV000000174 RCV000000176 RCV000000177 RCV000000178 RCV000000179 RCV000000180 RCV000000183 RCV000049551 RCV000000187 RCV000000188 RCV000000190 RCV000000191 RCV000000192 RCV000000193 RCV000000194 RCV000000196 RCV000000198 RCV000000199 RCV000000200 RCV000000201 RCV000000202 RCV000000203 RCV001208929 RCV000000206 RCV003062303 RCV003079116 RCV002621041 RCV002686238 RCV002904116 RCV002985439 RCV003016614 RCV003049551 RCV003056367 RCV003459783 RCV003471620 RCV003471621 RCV003463214 RCV003471622 RCV003471623 RCV003471624 RCV003463215 RCV003463216 RCV003471625 RCV003463217 RCV003496533 RCV003496271 RCV003598299 RCV003599615 RCV003599732 RCV003599737 RCV003599738 RCV003597477 RCV003988684 RCV004018212 RCV004574405 RCV004574406 RCV004574407 RCV004574408 RCV004574409 RCV001198514 RCV000995825 RCV000530043 RCV000542545 RCV000541059 RCV000692988 RCV000735677 RCV000049520 RCV000049523 RCV000049524 RCV000049528 RCV000049529 RCV000049531 RCV000049532 RCV000049533 RCV000049534 RCV000049535 RCV000049537 RCV000049538 RCV000049539 RCV000049540 RCV000049543 RCV000049544 RCV000049545 RCV000049546 RCV000049547 RCV000049548 RCV000049549 RCV000049550 RCV001003104 RCV001029755 RCV001862828 RCV001216254 RCV001203269 RCV001212701 RCV001226503 RCV001239641	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pain	Likely pathogenic	rs1057518927	RCV000415047	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs121965036, rs121965057, rs770390524, rs386833612, rs1951414426	RCV004814786 RCV001074426 RCV004817743 RCV004814986 RCV001074447	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Visual field defect	Likely pathogenic	rs1057518927	RCV000415047	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENTEROCOLITIS, NECROTIZING	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NECROTIZING ENTEROCOLITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OAT-related disorder	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Kidney Tubular Necrosis	Renal tubular necrosis	BEFREE	21980933		★☆☆☆☆ Found in Text Mining only
Amino Acid Metabolism, Inborn Errors	Disorder of amino acid metabolism	BEFREE	12221166		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	3934900		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	31131668		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	31131668		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30575175, 31772541		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	15192289		★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	2793865, 28345116	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	11461082, 28816437	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30198174, 30549035		★☆☆☆☆ Found in Text Mining only
Chorioretinal atrophy	Chorioretinal atrophy	BEFREE	30335551		★☆☆☆☆ Found in Text Mining only
Chorioretinal atrophy	Chorioretinal atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chorioretinal dystrophy	Chorioretinal dystrophy	BEFREE	28708224		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29527240		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30245092		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31131668		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30035378		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30035378		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	1487247, 2220818, 3375240		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	11749107, 2793865	Associate	★☆☆☆☆ Found in Text Mining only
Factor VII Deficiency	Factor VII Deficiency	BEFREE	20431847		★☆☆☆☆ Found in Text Mining only
Gyrate Atrophy	Gyrate Atrophy	BEFREE	10617919, 11297489, 1301936, 14578430, 1487247, 15750329, 1609808, 1618792, 1635292, 1737786, 20811048, 21464322, 2220818, 2276738, 23076989, 2492100, 2501580, 2793865, 28708224, 2893548, 2916580, 2916581, 29757052, 30335551, 30366948, 30429681, 30957963, 3195589, 3339136, 3375240, 3417397, 6789268, 7550347, 7712330, 7887415, 8125717, 8430317, 8670789, 9309222, 9355188, 9414260, 9415309, 9727717, 9815288		★☆☆☆☆ Found in Text Mining only
Gyrate Atrophy	Gyrate Atrophy	CLINGEN_DG	10655512, 1609808, 23076989, 23747282, 24429551, 2492100, 25264521, 30251682, 3339136, 3375240, 7550347, 9727717, 9815288		★☆☆☆☆ Found in Text Mining only
Gyrate Atrophy	Gyrate Atrophy	CLINVAR_DG	1609808, 22674428		★☆☆☆☆ Found in Text Mining only
Gyrate Atrophy	Gyrate Atrophy	UNIPROT_DG	1612597, 1737786, 23076989, 2793865, 3375240, 7668253, 7887415		★☆☆☆☆ Found in Text Mining only
Gyrate Atrophy	Gyrate Atrophy	ORPHANET_DG	23076989		★☆☆☆☆ Found in Text Mining only
Gyrate Atrophy	Gyrate Atrophy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Gyrate Atrophy	Gyrate Atrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Gyrate atrophy of choroid and retina	Gyrate Atrophy Of Choroid And Retina	Orphanet			★☆☆☆☆ Found in Text Mining only
HHH syndrome	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	BEFREE	2501580		★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	1771606		★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	15750329		★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	29961538	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28816437, 31251613		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	CTD_human_DG	28108177		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	30198174	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30198174	Stimulate	★☆☆☆☆ Found in Text Mining only
Lysinuric Protein Intolerance	Lysinuric Protein Intolerance	BEFREE	2501580		★☆☆☆☆ Found in Text Mining only
Macular Edema, Cystoid	Cystoid macular edema	BEFREE	31344241		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	28108177		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31251613		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30198174, 30549035		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30025492		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31131668		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	1609808	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Necrotizing Enterocolitis	Necrotizing Enterocolitis	CTD_human_DG	18806098		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	30198174		★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	16247718		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30549035		★☆☆☆☆ Found in Text Mining only
Norrie disease	Norrie Disease	BEFREE	1968041, 2568328		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	29961538		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	BEFREE	8281521		★☆☆☆☆ Found in Text Mining only
Posterior subcapsular cataract	Capsular cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26921337	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	2584228	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	2584228, 3456579, 8495798		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	2584228, 3456579	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	30964756		★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	7682104		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	26514486		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36098904	Associate	★☆☆☆☆ Found in Text Mining only
Subcapsular cataract	Subcapsular cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	7519051, 7682104		★☆☆☆☆ Found in Text Mining only
Trisomy	Trisomy	Pubtator	8411036	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	33100131	Associate	★☆☆☆☆ Found in Text Mining only
X-linked retinitis pigmentosa	Retinitis Pigmentosa, X-Linked	BEFREE	3417397		★☆☆☆☆ Found in Text Mining only