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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4942
Gene name	Ornithine aminotransferase
Gene symbol	OAT
Synonyms (NCBI Gene)	GACRHOGAOATASEOKT
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

Show/Hide all (70)

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

145

Show/Hide all (145)

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

Show/Hide all (2)

Transcription factor	Regulation	Reference
SP1	Unknown	2373169
TFAP2A	Unknown	2373169

Show/Hide all (24)

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

MIM	HGNC	e!Ensembl
613349	8091	ENSG00000065154

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

Interactions

View interactions

	KEGG		Reactome
	Arginine and proline metabolism Metabolic pathways		Glutamate and glutamine metabolism

670

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal choroid morphology	Likely pathogenic	rs1057518927	RCV000415047
Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia	Likely pathogenic; Pathogenic	rs121965047, rs121965059	RCV000000185 RCV000000204
Hyperornithinemia	Pathogenic; Likely pathogenic	rs1283361732, rs1951451290, rs121965043, rs121965051, rs121965058, rs121965059, rs2494500513, rs200068769, rs386833598, rs386833601	RCV005057358 RCV002307832 RCV002509140 RCV003234882 RCV002271362 RCV004689396 RCV005406579 RCV002298643 RCV003317066 RCV005406791
Optic atrophy	Likely pathogenic	rs1057518927	RCV000415047
Ornithine aminotransferase deficiency	Likely pathogenic; Pathogenic	rs1951420329, rs2134476814, rs2134440057, rs1285313333, rs2134456707, rs2134465433, rs1283361732, rs2134462662, rs551144161, rs2134460074, rs2134456729, rs2134440572, rs1951417940, rs2134476898, rs2134478524 View all (108 more)	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
Pain	Likely pathogenic	rs1057518927	RCV000415047
Retinal dystrophy	Likely pathogenic; Pathogenic	rs121965036, rs121965057, rs770390524, rs386833612, rs1951414426	RCV004814786 RCV001074426 RCV004817743 RCV004814986 RCV001074447
Visual field defect	Likely pathogenic	rs1057518927	RCV000415047

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial cancer of breast	Likely benign; Benign	rs201585464, rs778743727	RCV005926048 RCV005870008
Lung cancer	Conflicting classifications of pathogenicity	rs561800688, rs1800456	RCV005907096 RCV005890359
Melanoma	Uncertain significance	rs774853325	RCV005910997
OAT-related disorder	Likely benign; Conflicting classifications of pathogenicity	rs1312077418, rs757744354, rs763915205, rs376051303, rs143526711, rs140786333, rs386833603, rs528039246	RCV003946098 RCV003946035 RCV003401984 RCV003930250 RCV003938124 RCV004756058 RCV003905013 RCV003903136
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs1800456	RCV005890358
Sarcoma	Conflicting classifications of pathogenicity	rs561800688	RCV005907095
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	rs561800688	RCV005907097

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abortion Spontaneous	Stimulate	29961538
Blindness	Associate	2793865, 28345116
Carcinoma Hepatocellular	Associate	11461082, 28816437
Eye Diseases	Associate	11749107, 2793865
Genetic Diseases Inborn	Associate	21464322, 3456579
Glutaric Acidemia I	Associate	2492100, 3339136, 36834788
Gyrate Atrophy	Associate	1609808, 1618792, 21464322, 2220818, 24082780, 2492100, 2584228, 2793865, 28345116, 2893548, 2916580, 2916581, 29437727, 29757052, 30251682 View all (6 more)
Gyrate Atrophy	Inhibit	3375240
Infertility Male	Associate	29961538
Lung Neoplasms	Associate	30198174
Lymphatic Metastasis	Stimulate	30198174
Metabolism Inborn Errors	Associate	2793865
Mitochondrial Diseases	Associate	1609808
Nerve Degeneration	Associate	28345116
Neuralgia	Associate	28260076
Neurologic Manifestations	Associate	36834788
Norrie disease	Associate	7908152
Prostatic Neoplasms	Associate	26921337
Retinal Degeneration	Associate	2584228
Retinoblastoma	Associate	2584228, 3456579
Stomach Neoplasms	Associate	36098904
Trisomy	Associate	8411036
Ventricular Dysfunction Left	Associate	33100131

OAT (ornithine aminotransferase)