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	112817
Gene name	4-hydroxy-2-oxoglutarate aldolase 1
Gene symbol	HOGA1
Synonyms (NCBI Gene)	C10orf65DHDPS2DHDPSLHP3NPL2
Chromosome	10
Chromosome location	10q24.2
Summary	The authors of PMID:20797690 cloned this gene while searching for genes in a region of chromosome 10 linked to primary hyperoxalurea type III. They noted that even though the encoded protein has been described as a mitochondrial dihydrodipicolinate syntha

Show/Hide all (38)

SNP ID	Visualize variation	Clinical significance	Consequence
rs138207257	G>A,T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs149150736	C>T	Pathogenic	Coding sequence variant, missense variant
rs185803104	G>T	Pathogenic	Intron variant
rs200529020	G>A	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs201803986	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs202047589	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, intron variant, missense variant
rs267606763	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs267606764	T>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397509360	AGG>-	Pathogenic	Coding sequence variant, inframe deletion
rs746419489	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs746776892	C>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs749315029	G>A,T	Likely-pathogenic	Splice donor variant
rs752277936	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs755562733	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs756489804	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs758304537	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, stop gained
rs764396564	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs767405535	C>A,T	Pathogenic	Coding sequence variant, intron variant, stop gained, missense variant
rs770050262	G>A,T	Pathogenic	Coding sequence variant, synonymous variant
rs776817346	A>G	Likely-pathogenic	Splice acceptor variant
rs777046879	G>A	Pathogenic	Coding sequence variant, missense variant
rs777683624	C>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs796052085	C>A	Pathogenic	Coding sequence variant, missense variant
rs796052086	C>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs796052087	T>C	Pathogenic	Coding sequence variant, missense variant
rs796052088	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs796052089	A>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs796052090	T>A,C	Pathogenic	Coding sequence variant, intron variant, missense variant
rs796052091	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs796052092	TGC>-	Pathogenic	Coding sequence variant, inframe deletion
rs924232072	->TGGTC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs990830655	T>A,G	Likely-pathogenic	Intron variant, splice donor variant
rs1419840309	T>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1425736036	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554874130	G>A	Likely-pathogenic	Intron variant, splice acceptor variant
rs1554874148	T>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1564760008	GG>TT	Pathogenic	Coding sequence variant, splice donor variant
rs1589899290	CTGTGACCACCCCC>-	Pathogenic	Frameshift variant, coding sequence variant

198

Show/Hide all (198)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049270	hsa-miR-92a-3p	CLASH	23622248
MIRT1052484	hsa-miR-1827	CLIP-seq
MIRT1052485	hsa-miR-3929	CLIP-seq
MIRT1052486	hsa-miR-4419b	CLIP-seq
MIRT1052487	hsa-miR-4459	CLIP-seq
MIRT1052488	hsa-miR-4478	CLIP-seq
MIRT1052489	hsa-miR-4649-3p	CLIP-seq
MIRT1052490	hsa-miR-4695-5p	CLIP-seq
MIRT1052491	hsa-miR-4722-5p	CLIP-seq
MIRT1052492	hsa-miR-4768-3p	CLIP-seq
MIRT1052493	hsa-miR-485-5p	CLIP-seq
MIRT1052494	hsa-miR-566	CLIP-seq
MIRT1052495	hsa-miR-665	CLIP-seq
MIRT1052496	hsa-miR-940	CLIP-seq
MIRT1052497	hsa-miR-1207-5p	CLIP-seq
MIRT1052498	hsa-miR-1268	CLIP-seq
MIRT1052499	hsa-miR-1268b	CLIP-seq
MIRT1052484	hsa-miR-1827	CLIP-seq
MIRT1052500	hsa-miR-2114	CLIP-seq
MIRT1052501	hsa-miR-2682	CLIP-seq
MIRT1052502	hsa-miR-3122	CLIP-seq
MIRT1052503	hsa-miR-3161	CLIP-seq
MIRT1052504	hsa-miR-3202	CLIP-seq
MIRT1052505	hsa-miR-3622a-3p	CLIP-seq
MIRT1052506	hsa-miR-3622b-3p	CLIP-seq
MIRT1052507	hsa-miR-3689a-3p	CLIP-seq
MIRT1052508	hsa-miR-3689c	CLIP-seq
MIRT1052509	hsa-miR-3913-5p	CLIP-seq
MIRT1052485	hsa-miR-3929	CLIP-seq
MIRT1052510	hsa-miR-3940-5p	CLIP-seq
MIRT1052511	hsa-miR-4308	CLIP-seq
MIRT1052486	hsa-miR-4419b	CLIP-seq
MIRT1052512	hsa-miR-4433	CLIP-seq
MIRT1052487	hsa-miR-4459	CLIP-seq
MIRT1052488	hsa-miR-4478	CLIP-seq
MIRT1052513	hsa-miR-4486	CLIP-seq
MIRT1052514	hsa-miR-449c	CLIP-seq
MIRT1052515	hsa-miR-4507	CLIP-seq
MIRT1052516	hsa-miR-4533	CLIP-seq
MIRT1052489	hsa-miR-4649-3p	CLIP-seq
MIRT1052491	hsa-miR-4722-5p	CLIP-seq
MIRT1052517	hsa-miR-4728-5p	CLIP-seq
MIRT1052518	hsa-miR-4736	CLIP-seq
MIRT1052519	hsa-miR-4763-3p	CLIP-seq
MIRT1052492	hsa-miR-4768-3p	CLIP-seq
MIRT1052493	hsa-miR-485-5p	CLIP-seq
MIRT1052520	hsa-miR-544b	CLIP-seq
MIRT1052521	hsa-miR-548c-3p	CLIP-seq
MIRT1052522	hsa-miR-562	CLIP-seq
MIRT1052494	hsa-miR-566	CLIP-seq
MIRT1052523	hsa-miR-585	CLIP-seq
MIRT1052524	hsa-miR-629	CLIP-seq
MIRT1052496	hsa-miR-940	CLIP-seq
MIRT1052497	hsa-miR-1207-5p	CLIP-seq
MIRT1052484	hsa-miR-1827	CLIP-seq
MIRT1052501	hsa-miR-2682	CLIP-seq
MIRT2011898	hsa-miR-3591-5p	CLIP-seq
MIRT1052505	hsa-miR-3622a-3p	CLIP-seq
MIRT1052506	hsa-miR-3622b-3p	CLIP-seq
MIRT1052485	hsa-miR-3929	CLIP-seq
MIRT2011899	hsa-miR-4255	CLIP-seq
MIRT1052486	hsa-miR-4419b	CLIP-seq
MIRT1052512	hsa-miR-4433	CLIP-seq
MIRT1052487	hsa-miR-4459	CLIP-seq
MIRT1052488	hsa-miR-4478	CLIP-seq
MIRT1052514	hsa-miR-449c	CLIP-seq
MIRT1052489	hsa-miR-4649-3p	CLIP-seq
MIRT1052490	hsa-miR-4695-5p	CLIP-seq
MIRT1052491	hsa-miR-4722-5p	CLIP-seq
MIRT1052518	hsa-miR-4736	CLIP-seq
MIRT1052519	hsa-miR-4763-3p	CLIP-seq
MIRT1052492	hsa-miR-4768-3p	CLIP-seq
MIRT1052493	hsa-miR-485-5p	CLIP-seq
MIRT1052520	hsa-miR-544b	CLIP-seq
MIRT1052494	hsa-miR-566	CLIP-seq
MIRT1052495	hsa-miR-665	CLIP-seq
MIRT1052496	hsa-miR-940	CLIP-seq
MIRT1052497	hsa-miR-1207-5p	CLIP-seq
MIRT1052498	hsa-miR-1268	CLIP-seq
MIRT1052499	hsa-miR-1268b	CLIP-seq
MIRT1052484	hsa-miR-1827	CLIP-seq
MIRT1052501	hsa-miR-2682	CLIP-seq
MIRT1052502	hsa-miR-3122	CLIP-seq
MIRT1052505	hsa-miR-3622a-3p	CLIP-seq
MIRT1052506	hsa-miR-3622b-3p	CLIP-seq
MIRT1052507	hsa-miR-3689a-3p	CLIP-seq
MIRT1052508	hsa-miR-3689c	CLIP-seq
MIRT1052509	hsa-miR-3913-5p	CLIP-seq
MIRT1052485	hsa-miR-3929	CLIP-seq
MIRT1052486	hsa-miR-4419b	CLIP-seq
MIRT1052512	hsa-miR-4433	CLIP-seq
MIRT1052487	hsa-miR-4459	CLIP-seq
MIRT1052488	hsa-miR-4478	CLIP-seq
MIRT1052514	hsa-miR-449c	CLIP-seq
MIRT1052489	hsa-miR-4649-3p	CLIP-seq
MIRT1052491	hsa-miR-4722-5p	CLIP-seq
MIRT1052517	hsa-miR-4728-5p	CLIP-seq
MIRT1052518	hsa-miR-4736	CLIP-seq
MIRT1052519	hsa-miR-4763-3p	CLIP-seq
MIRT1052492	hsa-miR-4768-3p	CLIP-seq
MIRT1052493	hsa-miR-485-5p	CLIP-seq
MIRT1052520	hsa-miR-544b	CLIP-seq
MIRT1052494	hsa-miR-566	CLIP-seq
MIRT1052496	hsa-miR-940	CLIP-seq
MIRT2244206	hsa-miR-1587	CLIP-seq
MIRT2244207	hsa-miR-378g	CLIP-seq
MIRT2244208	hsa-miR-4284	CLIP-seq
MIRT2244209	hsa-miR-4492	CLIP-seq
MIRT2244210	hsa-miR-4498	CLIP-seq
MIRT2244211	hsa-miR-4656	CLIP-seq
MIRT2244212	hsa-miR-4675	CLIP-seq
MIRT2244213	hsa-miR-4741	CLIP-seq
MIRT2244214	hsa-miR-762	CLIP-seq
MIRT1052516	hsa-miR-4533	CLIP-seq
MIRT2451296	hsa-miR-3120-5p	CLIP-seq
MIRT2451297	hsa-miR-3121-3p	CLIP-seq
MIRT2451298	hsa-miR-3613-3p	CLIP-seq
MIRT2451299	hsa-miR-3664-5p	CLIP-seq
MIRT2451300	hsa-miR-371-5p	CLIP-seq
MIRT2451301	hsa-miR-371b-5p	CLIP-seq
MIRT1052513	hsa-miR-4486	CLIP-seq
MIRT2451302	hsa-miR-4738-3p	CLIP-seq
MIRT1052521	hsa-miR-548c-3p	CLIP-seq
MIRT2451297	hsa-miR-3121-3p	CLIP-seq
MIRT1052497	hsa-miR-1207-5p	CLIP-seq
MIRT1052498	hsa-miR-1268	CLIP-seq
MIRT1052499	hsa-miR-1268b	CLIP-seq
MIRT1052484	hsa-miR-1827	CLIP-seq
MIRT1052501	hsa-miR-2682	CLIP-seq
MIRT2451296	hsa-miR-3120-5p	CLIP-seq
MIRT1052502	hsa-miR-3122	CLIP-seq
MIRT2451298	hsa-miR-3613-3p	CLIP-seq
MIRT1052505	hsa-miR-3622a-3p	CLIP-seq
MIRT1052506	hsa-miR-3622b-3p	CLIP-seq
MIRT2547152	hsa-miR-3647-3p	CLIP-seq
MIRT2451299	hsa-miR-3664-5p	CLIP-seq
MIRT1052507	hsa-miR-3689a-3p	CLIP-seq
MIRT1052508	hsa-miR-3689c	CLIP-seq
MIRT2451300	hsa-miR-371-5p	CLIP-seq
MIRT2451301	hsa-miR-371b-5p	CLIP-seq
MIRT1052509	hsa-miR-3913-5p	CLIP-seq
MIRT1052485	hsa-miR-3929	CLIP-seq
MIRT1052486	hsa-miR-4419b	CLIP-seq
MIRT1052512	hsa-miR-4433	CLIP-seq
MIRT1052487	hsa-miR-4459	CLIP-seq
MIRT1052488	hsa-miR-4478	CLIP-seq
MIRT1052513	hsa-miR-4486	CLIP-seq
MIRT1052514	hsa-miR-449c	CLIP-seq
MIRT1052489	hsa-miR-4649-3p	CLIP-seq
MIRT1052517	hsa-miR-4728-5p	CLIP-seq
MIRT1052518	hsa-miR-4736	CLIP-seq
MIRT2451302	hsa-miR-4738-3p	CLIP-seq
MIRT1052519	hsa-miR-4763-3p	CLIP-seq
MIRT1052492	hsa-miR-4768-3p	CLIP-seq
MIRT1052493	hsa-miR-485-5p	CLIP-seq
MIRT1052520	hsa-miR-544b	CLIP-seq
MIRT1052521	hsa-miR-548c-3p	CLIP-seq
MIRT1052494	hsa-miR-566	CLIP-seq
MIRT1052523	hsa-miR-585	CLIP-seq
MIRT1052496	hsa-miR-940	CLIP-seq
MIRT1052497	hsa-miR-1207-5p	CLIP-seq
MIRT1052518	hsa-miR-4736	CLIP-seq
MIRT1052519	hsa-miR-4763-3p	CLIP-seq
MIRT1052497	hsa-miR-1207-5p	CLIP-seq
MIRT1052498	hsa-miR-1268	CLIP-seq
MIRT1052499	hsa-miR-1268b	CLIP-seq
MIRT1052484	hsa-miR-1827	CLIP-seq
MIRT1052501	hsa-miR-2682	CLIP-seq
MIRT2451296	hsa-miR-3120-5p	CLIP-seq
MIRT1052502	hsa-miR-3122	CLIP-seq
MIRT2451298	hsa-miR-3613-3p	CLIP-seq
MIRT1052505	hsa-miR-3622a-3p	CLIP-seq
MIRT1052506	hsa-miR-3622b-3p	CLIP-seq
MIRT2451299	hsa-miR-3664-5p	CLIP-seq
MIRT1052507	hsa-miR-3689a-3p	CLIP-seq
MIRT1052508	hsa-miR-3689c	CLIP-seq
MIRT2451300	hsa-miR-371-5p	CLIP-seq
MIRT2451301	hsa-miR-371b-5p	CLIP-seq
MIRT1052509	hsa-miR-3913-5p	CLIP-seq
MIRT1052485	hsa-miR-3929	CLIP-seq
MIRT1052486	hsa-miR-4419b	CLIP-seq
MIRT1052487	hsa-miR-4459	CLIP-seq
MIRT1052488	hsa-miR-4478	CLIP-seq
MIRT1052513	hsa-miR-4486	CLIP-seq
MIRT1052514	hsa-miR-449c	CLIP-seq
MIRT1052489	hsa-miR-4649-3p	CLIP-seq
MIRT1052491	hsa-miR-4722-5p	CLIP-seq
MIRT1052517	hsa-miR-4728-5p	CLIP-seq
MIRT1052518	hsa-miR-4736	CLIP-seq
MIRT2451302	hsa-miR-4738-3p	CLIP-seq
MIRT1052519	hsa-miR-4763-3p	CLIP-seq
MIRT1052492	hsa-miR-4768-3p	CLIP-seq
MIRT1052493	hsa-miR-485-5p	CLIP-seq
MIRT1052520	hsa-miR-544b	CLIP-seq
MIRT1052521	hsa-miR-548c-3p	CLIP-seq
MIRT1052494	hsa-miR-566	CLIP-seq
MIRT1052523	hsa-miR-585	CLIP-seq
MIRT1052496	hsa-miR-940	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	27499296, 28514442, 32296183, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS	21998747
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0008700	Function	(R,S)-4-hydroxy-2-oxoglutarate aldolase activity	IBA
GO:0008700	Function	(R,S)-4-hydroxy-2-oxoglutarate aldolase activity	IDA	21998747
GO:0008700	Function	(R,S)-4-hydroxy-2-oxoglutarate aldolase activity	IEA
GO:0008700	Function	(R,S)-4-hydroxy-2-oxoglutarate aldolase activity	ISS
GO:0009436	Process	Glyoxylate catabolic process	IBA
GO:0009436	Process	Glyoxylate catabolic process	IEA
GO:0009436	Process	Glyoxylate catabolic process	IMP	20797690
GO:0016829	Function	Lyase activity	IEA
GO:0019470	Process	Trans-4-hydroxy-L-proline catabolic process	IDA	21998747
GO:0033609	Process	Oxalate metabolic process	IMP	21896830
GO:0042803	Function	Protein homodimerization activity	IDA	21998747
GO:0042866	Process	Pyruvate biosynthetic process	IDA	21998747
GO:0046487	Process	Glyoxylate metabolic process	IDA	21998747
GO:0106009	Function	(4S)-4-hydroxy-2-oxoglutarate aldolase activity	IEA

MIM	HGNC	e!Ensembl
613597	25155	ENSG00000241935

Q86XE5

Protein name

4-hydroxy-2-oxoglutarate aldolase, mitochondrial (EC 4.1.3.16) (Dihydrodipicolinate synthase-like) (DHDPS-like protein) (Probable 2-keto-4-hydroxyglutarate aldolase) (Probable KHG-aldolase) (Protein 569272)

Protein function

Catalyzes the final step in the metabolic pathway of hydroxyproline.

PDB

3S5N , 3S5O

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00701	DHDPS	34 → 323	Dihydrodipicolinate synthetase family	Domain

Sequence

MLGPQVWSSVRQGLSRSLSRNVGVWASGEGKKVDIAGIYPPVTTPFTATAEVDYGKLEEN
LHKLGTFPFRGFVVQGSNGEFPFLTSSERLEVVSRVRQAMPKNRLLLAGSGCESTQATVE
MTVSMAQVGADAAMVVTPCYYRGRMSSAALIHHYTKVADLSPIPVVLYSVPANTGLDLPV
DAVVTLSQHPNIVGMKDSGGDVTRIGLIVHKTRKQDFQVLAGSAGFLMASYALGAVGGVC
ALANVLGAQVCQLERLCCTGQWEDAQKLQHRLIEPNAAVTRRFGIPGLKKIMDWFGYYGG
PCRAPLQELSPAEEEALRMDFTSNGWL

Sequence length

327

Interactions

View interactions

	KEGG		Reactome
	Arginine and proline metabolism Glyoxylate and dicarboxylate metabolism Metabolic pathways		Glyoxylate metabolism and glycine degradation

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 (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Colon adenocarcinoma	Pathogenic	rs185803104	RCV005892162	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Pathogenic	rs185803104	RCV005892161	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HOGA1-related disorder	Likely pathogenic; Pathogenic	rs397509360, rs267606762, rs764396564, rs185803104	RCV003415590 RCV003415591 RCV003895222 RCV003937657	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus	Pathogenic	rs185803104	RCV005892163	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Likely pathogenic; Pathogenic	rs770050262	RCV005892166	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Pathogenic	rs185803104	RCV005892165	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs185803104	RCV005892164	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary hyperoxaluria type 3	Likely pathogenic; Pathogenic	rs759407659, rs2135711274, rs1247079002, rs750974539, rs2135722313, rs947352856, rs764224799, rs752252343, rs397509360, rs138207257, rs267606762, rs2041105506, rs267606763, rs267606764, rs755562733 View all (68 more)	RCV005040239 RCV004762139 RCV003447322 RCV002493929 RCV001535913 View all (89 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs770050262	RCV005892167	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

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.
Adrenocortical carcinoma, hereditary	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROXALURIA, PRIMARY, TYPE III	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary hyperoxaluria	Benign; Likely benign; Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PRIMARY HYPEROXALURIA TYPE III	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (26)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Cholestasis	Cholestasis	CTD_human_DG	27989131		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic kidney disease stage 5	Kidney Disease	BEFREE	30169827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperoxaluria	Hyperoxaluria	BEFREE	21896830		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperoxaluria	Hyperoxaluria	Pubtator	21896830, 25972204	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperoxaluria	Hyperoxaluria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperoxaluria	Hyperoxaluria	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperoxaluria Primary	Hyperoxaluria	Pubtator	20797690, 25644115, 35612621, 35661454, 36151119, 39933499, 40225159	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	27561601	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	30169827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrolithiasis Calcium Oxalate	Nephrolithiasis	Pubtator	21896830	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
NEPHROLITHIASIS, CALCIUM OXALATE	Nephronophthisis	BEFREE	21896830		★★★★★ ★☆☆☆☆ Found in Text Mining only
NEPHROLITHIASIS, CALCIUM OXALATE	Nephronophthisis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Hyperoxaluria	Hyperoxaluria	BEFREE	20797690, 22391140, 22781098, 26340091, 30169827		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Primary Hyperoxaluria	Hyperoxaluria	GENOMICS_ENGLAND_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Primary hyperoxaluria type 1	Hyperoxaluria	Pubtator	25972204, 27096395, 27561601, 31401635, 34245816	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary hyperoxaluria type 3	Hyperoxaluria	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary hyperoxaluria type III	Hyperoxaluria	BEFREE	20797690, 25972204, 26340091, 27096395, 27561601, 31123811, 31401635, 31696211		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary hyperoxaluria type III	Hyperoxaluria	CLINVAR_DG	20797690, 21896830, 21998747, 22391140, 22771891, 22781098, 22851625, 24563386, 25629080, 25644115, 25972204, 27096395, 28711958		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary hyperoxaluria type III	Hyperoxaluria	UNIPROT_DG	20797690		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary hyperoxaluria type III	Hyperoxaluria	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary hyperoxaluria type III	Hyperoxaluria	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary hyperoxaluria type III	Hyperoxaluria	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	22781098	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Tract Infections	Urinary tract infection	Pubtator	25972204	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urolithiasis	Urolithiasis	Pubtator	27561601	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1)