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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	622
Gene name	3-hydroxybutyrate dehydrogenase 1
Gene symbol	BDH1
Synonyms (NCBI Gene)	BDHSDR9C1
Chromosome	3
Chromosome location	3q29
Summary	This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic

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miRTarBase ID	miRNA	Experiments	Reference
MIRT662379	hsa-miR-18a-5p	HITS-CLIP	21572407
MIRT662378	hsa-miR-18b-5p	HITS-CLIP	21572407
MIRT662377	hsa-miR-4735-3p	HITS-CLIP	21572407
MIRT607730	hsa-miR-3177-5p	HITS-CLIP	21572407
MIRT607728	hsa-miR-4666a-5p	HITS-CLIP	21572407
MIRT607729	hsa-miR-493-5p	HITS-CLIP	21572407
MIRT606957	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT662379	hsa-miR-18a-5p	HITS-CLIP	23313552
MIRT662378	hsa-miR-18b-5p	HITS-CLIP	23313552
MIRT662377	hsa-miR-4735-3p	HITS-CLIP	23313552
MIRT606959	hsa-miR-3650	HITS-CLIP	23313552
MIRT606958	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT607730	hsa-miR-3177-5p	HITS-CLIP	23313552
MIRT607728	hsa-miR-4666a-5p	HITS-CLIP	23313552
MIRT607729	hsa-miR-493-5p	HITS-CLIP	23313552
MIRT606957	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT662379	hsa-miR-18a-5p	HITS-CLIP	23824327
MIRT662378	hsa-miR-18b-5p	HITS-CLIP	23824327
MIRT662377	hsa-miR-4735-3p	HITS-CLIP	23824327
MIRT606959	hsa-miR-3650	HITS-CLIP	23824327
MIRT606958	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT607730	hsa-miR-3177-5p	HITS-CLIP	23824327
MIRT607728	hsa-miR-4666a-5p	HITS-CLIP	23824327
MIRT607729	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT606957	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT607730	hsa-miR-3177-5p	HITS-CLIP	23824327
MIRT607728	hsa-miR-4666a-5p	HITS-CLIP	23824327
MIRT607729	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT606957	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT607730	hsa-miR-3177-5p	HITS-CLIP	23824327
MIRT607728	hsa-miR-4666a-5p	HITS-CLIP	23824327
MIRT607729	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT606957	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT606958	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT607730	hsa-miR-3177-5p	HITS-CLIP	24906430
MIRT607728	hsa-miR-4666a-5p	HITS-CLIP	24906430
MIRT607729	hsa-miR-493-5p	HITS-CLIP	24906430
MIRT606964	hsa-miR-4773	HITS-CLIP	24906430
MIRT606963	hsa-miR-6782-5p	HITS-CLIP	24906430
MIRT606962	hsa-miR-589-3p	HITS-CLIP	24906430
MIRT606961	hsa-miR-6747-5p	HITS-CLIP	24906430
MIRT606960	hsa-miR-4455	HITS-CLIP	24906430
MIRT606959	hsa-miR-3650	HITS-CLIP	24906430
MIRT606957	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT606964	hsa-miR-4773	HITS-CLIP	24906430
MIRT606963	hsa-miR-6782-5p	HITS-CLIP	24906430
MIRT606962	hsa-miR-589-3p	HITS-CLIP	24906430
MIRT606961	hsa-miR-6747-5p	HITS-CLIP	24906430
MIRT606960	hsa-miR-4455	HITS-CLIP	24906430
MIRT606959	hsa-miR-3650	HITS-CLIP	24906430
MIRT606958	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT606957	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT607730	hsa-miR-3177-5p	PAR-CLIP	27292025
MIRT607728	hsa-miR-4666a-5p	PAR-CLIP	27292025
MIRT607729	hsa-miR-493-5p	PAR-CLIP	27292025
MIRT606957	hsa-miR-574-5p	PAR-CLIP	27292025
MIRT606958	hsa-miR-6867-5p	PAR-CLIP	27292025
MIRT662379	hsa-miR-18a-5p	HITS-CLIP	27418678
MIRT662378	hsa-miR-18b-5p	HITS-CLIP	27418678
MIRT607730	hsa-miR-3177-5p	HITS-CLIP	27418678
MIRT607730	hsa-miR-3177-5p	HITS-CLIP	27418678
MIRT607730	hsa-miR-3177-5p	HITS-CLIP	27418678
MIRT607730	hsa-miR-3177-5p	HITS-CLIP	27418678
MIRT607730	hsa-miR-3177-5p	HITS-CLIP	27418678
MIRT606959	hsa-miR-3650	HITS-CLIP	27418678
MIRT606959	hsa-miR-3650	HITS-CLIP	27418678
MIRT606959	hsa-miR-3650	HITS-CLIP	27418678
MIRT606959	hsa-miR-3650	HITS-CLIP	27418678
MIRT606959	hsa-miR-3650	HITS-CLIP	27418678
MIRT606960	hsa-miR-4455	HITS-CLIP	27418678
MIRT606960	hsa-miR-4455	HITS-CLIP	27418678
MIRT606960	hsa-miR-4455	HITS-CLIP	27418678
MIRT606960	hsa-miR-4455	HITS-CLIP	27418678
MIRT606960	hsa-miR-4455	HITS-CLIP	27418678
MIRT607728	hsa-miR-4666a-5p	HITS-CLIP	27418678
MIRT607728	hsa-miR-4666a-5p	HITS-CLIP	27418678
MIRT607728	hsa-miR-4666a-5p	HITS-CLIP	27418678
MIRT607728	hsa-miR-4666a-5p	HITS-CLIP	27418678
MIRT607728	hsa-miR-4666a-5p	HITS-CLIP	27418678
MIRT662377	hsa-miR-4735-3p	HITS-CLIP	27418678
MIRT606964	hsa-miR-4773	HITS-CLIP	27418678
MIRT606964	hsa-miR-4773	HITS-CLIP	27418678
MIRT607729	hsa-miR-493-5p	HITS-CLIP	27418678
MIRT607729	hsa-miR-493-5p	HITS-CLIP	27418678
MIRT607729	hsa-miR-493-5p	HITS-CLIP	27418678
MIRT607729	hsa-miR-493-5p	HITS-CLIP	27418678
MIRT607729	hsa-miR-493-5p	HITS-CLIP	27418678
MIRT606957	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT606957	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT606957	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT606957	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT606957	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT606962	hsa-miR-589-3p	HITS-CLIP	27418678
MIRT606961	hsa-miR-6747-5p	HITS-CLIP	27418678
MIRT606961	hsa-miR-6747-5p	HITS-CLIP	27418678
MIRT606961	hsa-miR-6747-5p	HITS-CLIP	27418678
MIRT606961	hsa-miR-6747-5p	HITS-CLIP	27418678
MIRT606961	hsa-miR-6747-5p	HITS-CLIP	27418678
MIRT606963	hsa-miR-6782-5p	HITS-CLIP	27418678
MIRT606963	hsa-miR-6782-5p	HITS-CLIP	27418678
MIRT606963	hsa-miR-6782-5p	HITS-CLIP	27418678
MIRT606963	hsa-miR-6782-5p	HITS-CLIP	27418678
MIRT606958	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT606958	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT606958	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT606958	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT606958	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT662379	hsa-miR-18a-5p	HITS-CLIP	21572407
MIRT662378	hsa-miR-18b-5p	HITS-CLIP	21572407
MIRT662377	hsa-miR-4735-3p	HITS-CLIP	21572407
MIRT607730	hsa-miR-3177-5p	HITS-CLIP	21572407
MIRT607728	hsa-miR-4666a-5p	HITS-CLIP	21572407
MIRT607729	hsa-miR-493-5p	HITS-CLIP	21572407
MIRT606957	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT662379	hsa-miR-18a-5p	HITS-CLIP	23313552
MIRT662378	hsa-miR-18b-5p	HITS-CLIP	23313552
MIRT662377	hsa-miR-4735-3p	HITS-CLIP	23313552
MIRT606959	hsa-miR-3650	HITS-CLIP	23313552
MIRT606958	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT607730	hsa-miR-3177-5p	HITS-CLIP	23313552
MIRT607728	hsa-miR-4666a-5p	HITS-CLIP	23313552
MIRT607729	hsa-miR-493-5p	HITS-CLIP	23313552
MIRT606957	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT662379	hsa-miR-18a-5p	HITS-CLIP	23824327
MIRT662378	hsa-miR-18b-5p	HITS-CLIP	23824327
MIRT662377	hsa-miR-4735-3p	HITS-CLIP	23824327
MIRT606959	hsa-miR-3650	HITS-CLIP	23824327
MIRT606958	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT607730	hsa-miR-3177-5p	HITS-CLIP	23824327
MIRT607728	hsa-miR-4666a-5p	HITS-CLIP	23824327
MIRT607729	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT606957	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT607730	hsa-miR-3177-5p	HITS-CLIP	23824327
MIRT607728	hsa-miR-4666a-5p	HITS-CLIP	23824327
MIRT607729	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT606957	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT607730	hsa-miR-3177-5p	HITS-CLIP	23824327
MIRT607728	hsa-miR-4666a-5p	HITS-CLIP	23824327
MIRT607729	hsa-miR-493-5p	HITS-CLIP	23824327
MIRT606957	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT820365	hsa-miR-106a	CLIP-seq
MIRT820366	hsa-miR-106b	CLIP-seq
MIRT820367	hsa-miR-10a	CLIP-seq
MIRT820368	hsa-miR-10b	CLIP-seq
MIRT820369	hsa-miR-1203	CLIP-seq
MIRT820370	hsa-miR-130a	CLIP-seq
MIRT820371	hsa-miR-130b	CLIP-seq
MIRT820372	hsa-miR-142-5p	CLIP-seq
MIRT820373	hsa-miR-17	CLIP-seq
MIRT820374	hsa-miR-20a	CLIP-seq
MIRT820375	hsa-miR-20b	CLIP-seq
MIRT820376	hsa-miR-216b	CLIP-seq
MIRT820377	hsa-miR-301a	CLIP-seq
MIRT820378	hsa-miR-301b	CLIP-seq
MIRT820379	hsa-miR-3122	CLIP-seq
MIRT820380	hsa-miR-340	CLIP-seq
MIRT820381	hsa-miR-3614-5p	CLIP-seq
MIRT820382	hsa-miR-3616-5p	CLIP-seq
MIRT820383	hsa-miR-3620	CLIP-seq
MIRT820384	hsa-miR-3647-5p	CLIP-seq
MIRT820385	hsa-miR-3666	CLIP-seq
MIRT820386	hsa-miR-3689a-3p	CLIP-seq
MIRT820387	hsa-miR-3689c	CLIP-seq
MIRT820388	hsa-miR-370	CLIP-seq
MIRT820389	hsa-miR-3714	CLIP-seq
MIRT820390	hsa-miR-3913-5p	CLIP-seq
MIRT820391	hsa-miR-3925-3p	CLIP-seq
MIRT820392	hsa-miR-3937	CLIP-seq
MIRT820393	hsa-miR-4252	CLIP-seq
MIRT820394	hsa-miR-4295	CLIP-seq
MIRT820395	hsa-miR-4307	CLIP-seq
MIRT820396	hsa-miR-4495	CLIP-seq
MIRT820397	hsa-miR-454	CLIP-seq
MIRT820398	hsa-miR-4635	CLIP-seq
MIRT820399	hsa-miR-4661-3p	CLIP-seq
MIRT820400	hsa-miR-4666-5p	CLIP-seq
MIRT820401	hsa-miR-4668-3p	CLIP-seq
MIRT820402	hsa-miR-4717-5p	CLIP-seq
MIRT820403	hsa-miR-4722-3p	CLIP-seq
MIRT820404	hsa-miR-4728-5p	CLIP-seq
MIRT820405	hsa-miR-4742-3p	CLIP-seq
MIRT820406	hsa-miR-4763-5p	CLIP-seq
MIRT820407	hsa-miR-494	CLIP-seq
MIRT820408	hsa-miR-519a	CLIP-seq
MIRT820409	hsa-miR-519b-3p	CLIP-seq
MIRT820410	hsa-miR-519c-3p	CLIP-seq
MIRT820411	hsa-miR-519d	CLIP-seq
MIRT820412	hsa-miR-543	CLIP-seq
MIRT820413	hsa-miR-548c-3p	CLIP-seq
MIRT820414	hsa-miR-548n	CLIP-seq
MIRT820415	hsa-miR-548t	CLIP-seq
MIRT820416	hsa-miR-573	CLIP-seq
MIRT820417	hsa-miR-624	CLIP-seq
MIRT820418	hsa-miR-766	CLIP-seq
MIRT820419	hsa-miR-93	CLIP-seq
MIRT820420	hsa-miR-940	CLIP-seq
MIRT820421	hsa-miR-125a-5p	CLIP-seq
MIRT820422	hsa-miR-125b	CLIP-seq
MIRT820423	hsa-miR-1303	CLIP-seq
MIRT820424	hsa-miR-146b-3p	CLIP-seq
MIRT820425	hsa-miR-197	CLIP-seq
MIRT820426	hsa-miR-3157-3p	CLIP-seq
MIRT820427	hsa-miR-3173-5p	CLIP-seq
MIRT820393	hsa-miR-4252	CLIP-seq
MIRT820428	hsa-miR-4319	CLIP-seq
MIRT820429	hsa-miR-4324	CLIP-seq
MIRT820430	hsa-miR-4716-5p	CLIP-seq
MIRT820402	hsa-miR-4717-5p	CLIP-seq
MIRT820403	hsa-miR-4722-3p	CLIP-seq
MIRT820431	hsa-miR-4757-5p	CLIP-seq
MIRT820406	hsa-miR-4763-5p	CLIP-seq
MIRT820432	hsa-miR-874	CLIP-seq
MIRT820433	hsa-miR-877	CLIP-seq
MIRT1942439	hsa-miR-4270	CLIP-seq
MIRT1942440	hsa-miR-4441	CLIP-seq
MIRT820402	hsa-miR-4717-5p	CLIP-seq
MIRT820382	hsa-miR-3616-5p	CLIP-seq
MIRT820384	hsa-miR-3647-5p	CLIP-seq
MIRT820398	hsa-miR-4635	CLIP-seq
MIRT820416	hsa-miR-573	CLIP-seq
MIRT2181146	hsa-miR-1827	CLIP-seq
MIRT2181147	hsa-miR-18a	CLIP-seq
MIRT2181148	hsa-miR-18b	CLIP-seq
MIRT820379	hsa-miR-3122	CLIP-seq
MIRT2181149	hsa-miR-3202	CLIP-seq
MIRT2181150	hsa-miR-323-5p	CLIP-seq
MIRT820381	hsa-miR-3614-5p	CLIP-seq
MIRT2181151	hsa-miR-3622b-5p	CLIP-seq
MIRT820386	hsa-miR-3689a-3p	CLIP-seq
MIRT820387	hsa-miR-3689c	CLIP-seq
MIRT820389	hsa-miR-3714	CLIP-seq
MIRT820390	hsa-miR-3913-5p	CLIP-seq
MIRT2181152	hsa-miR-3929	CLIP-seq
MIRT820392	hsa-miR-3937	CLIP-seq
MIRT2181153	hsa-miR-4304	CLIP-seq
MIRT2181154	hsa-miR-4419b	CLIP-seq
MIRT2181155	hsa-miR-4478	CLIP-seq
MIRT2181156	hsa-miR-4533	CLIP-seq
MIRT2181157	hsa-miR-4649-3p	CLIP-seq
MIRT2181158	hsa-miR-4662a-5p	CLIP-seq
MIRT820400	hsa-miR-4666-5p	CLIP-seq
MIRT820402	hsa-miR-4717-5p	CLIP-seq
MIRT2181159	hsa-miR-4719	CLIP-seq
MIRT2181160	hsa-miR-4722-5p	CLIP-seq
MIRT820404	hsa-miR-4728-5p	CLIP-seq
MIRT2181161	hsa-miR-4768-3p	CLIP-seq
MIRT2181162	hsa-miR-541	CLIP-seq
MIRT2181163	hsa-miR-654-5p	CLIP-seq
MIRT2181164	hsa-miR-876-3p	CLIP-seq
MIRT2181165	hsa-miR-890	CLIP-seq
MIRT820420	hsa-miR-940	CLIP-seq
MIRT820421	hsa-miR-125a-5p	CLIP-seq
MIRT820422	hsa-miR-125b	CLIP-seq
MIRT820381	hsa-miR-3614-5p	CLIP-seq
MIRT820393	hsa-miR-4252	CLIP-seq
MIRT820428	hsa-miR-4319	CLIP-seq
MIRT820379	hsa-miR-3122	CLIP-seq
MIRT820381	hsa-miR-3614-5p	CLIP-seq
MIRT820386	hsa-miR-3689a-3p	CLIP-seq
MIRT820387	hsa-miR-3689c	CLIP-seq
MIRT820389	hsa-miR-3714	CLIP-seq
MIRT820390	hsa-miR-3913-5p	CLIP-seq
MIRT820392	hsa-miR-3937	CLIP-seq
MIRT820402	hsa-miR-4717-5p	CLIP-seq
MIRT820404	hsa-miR-4728-5p	CLIP-seq
MIRT820420	hsa-miR-940	CLIP-seq
MIRT820379	hsa-miR-3122	CLIP-seq
MIRT820386	hsa-miR-3689a-3p	CLIP-seq
MIRT820387	hsa-miR-3689c	CLIP-seq
MIRT820389	hsa-miR-3714	CLIP-seq
MIRT820390	hsa-miR-3913-5p	CLIP-seq
MIRT820392	hsa-miR-3937	CLIP-seq
MIRT820404	hsa-miR-4728-5p	CLIP-seq
MIRT820420	hsa-miR-940	CLIP-seq
MIRT820379	hsa-miR-3122	CLIP-seq
MIRT820381	hsa-miR-3614-5p	CLIP-seq
MIRT820382	hsa-miR-3616-5p	CLIP-seq
MIRT820384	hsa-miR-3647-5p	CLIP-seq
MIRT820386	hsa-miR-3689a-3p	CLIP-seq
MIRT820387	hsa-miR-3689c	CLIP-seq
MIRT820389	hsa-miR-3714	CLIP-seq
MIRT820390	hsa-miR-3913-5p	CLIP-seq
MIRT820392	hsa-miR-3937	CLIP-seq
MIRT820398	hsa-miR-4635	CLIP-seq
MIRT820404	hsa-miR-4728-5p	CLIP-seq
MIRT820416	hsa-miR-573	CLIP-seq
MIRT820420	hsa-miR-940	CLIP-seq
MIRT820379	hsa-miR-3122	CLIP-seq
MIRT820381	hsa-miR-3614-5p	CLIP-seq
MIRT820382	hsa-miR-3616-5p	CLIP-seq
MIRT820384	hsa-miR-3647-5p	CLIP-seq
MIRT820386	hsa-miR-3689a-3p	CLIP-seq
MIRT820387	hsa-miR-3689c	CLIP-seq
MIRT820389	hsa-miR-3714	CLIP-seq
MIRT820390	hsa-miR-3913-5p	CLIP-seq
MIRT820392	hsa-miR-3937	CLIP-seq
MIRT820398	hsa-miR-4635	CLIP-seq
MIRT820404	hsa-miR-4728-5p	CLIP-seq
MIRT820416	hsa-miR-573	CLIP-seq
MIRT820420	hsa-miR-940	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0003858	Function	3-hydroxybutyrate dehydrogenase activity	IBA
GO:0003858	Function	3-hydroxybutyrate dehydrogenase activity	IDA	8679568
GO:0003858	Function	3-hydroxybutyrate dehydrogenase activity	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0008202	Process	Steroid metabolic process	IBA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0099617	Component	Matrix side of mitochondrial inner membrane	ISS

MIM	HGNC	e!Ensembl
603063	1027	ENSG00000161267

Q02338

Protein name

D-beta-hydroxybutyrate dehydrogenase, mitochondrial (EC 1.1.1.30) (3-hydroxybutyrate dehydrogenase) (BDH) (Short chain dehydrogenase/reductase family 9C member 1)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00106	adh_short	56 → 252	short chain dehydrogenase	Domain

Sequence

MLATRLSRPLSRLPGKTLSACDRENGARRPLLLGSTSFIPIGRRTYASAAEPVGSKAVLV
TGCDSGFGFSLAKHLHSKGFLVFAGCLMKDKGHDGVKELDSLNSDRLRTVQLNVCSSEEV
EKVVEIVRSSLKDPEKGMWGLVNNAGISTFGEVEFTSLETYKQVAEVNLWGTVRMTKSFL
PLIRRAKGRVVNISSMLGRMANPARSPYCITKFGVEAFSDCLRYEMYPLGVKVSVVEPGN
FIAATSLYSPESIQAIAKKMWEELPEVVRKDYGKKYFDEKIAKMETYCSSGSTDTSPVID
AVTHALTATTPYTRYHPMDYYWWLRMQIMTHLPGAISDMIYIR

Sequence length

343

Interactions

View interactions

	KEGG		Reactome
	Butanoate metabolism Metabolic pathways		Utilization of Ketone Bodies Synthesis of Ketone Bodies

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 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.
BDH1-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (20)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Carcinoma	Breast Carcinoma	BEFREE	23082721		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30071094	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35049211	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	27711126	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	28085920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	28085920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28085920, 29242353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	36691815	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	Pubtator	38160540	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	21791085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28085920, 29242353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	21285140	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23082721		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28025230		★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	BEFREE	21285140		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	30854558		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23082721		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23443136	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	29504848	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36444610	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

BDH1 (3-hydroxybutyrate dehydrogenase 1)