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	26275
Gene name	3-hydroxyisobutyryl-CoA hydrolase
Gene symbol	HIBCH
Synonyms (NCBI Gene)	HIBYLCOAH
Chromosome	2
Chromosome location	2q32.2
Summary	This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript vari

Show/Hide all (19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs74832989	C>A,G,T	Benign, pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs121918329	T>C	Likely-pathogenic, pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs143746450	C>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs144053672	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs755786597	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs767597690	T>-,TT	Pathogenic	Frameshift variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs770114459	C>T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs776592661	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs778922921	G>A,C	Pathogenic	Intron variant, genic upstream transcript variant
rs786200864	A>C	Pathogenic	Genic upstream transcript variant, intron variant
rs786204004	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs863225062	->A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 3 prime UTR variant
rs1021805910	C>T	Pathogenic	Splice donor variant
rs1064796851	ATT>-	Likely-pathogenic	Inframe deletion, 3 prime UTR variant, coding sequence variant, non coding transcript variant
rs1131692017	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1553499757	A>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553501873	G>A	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1553505302	A>G	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1553506164	T>G	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant

Show/Hide all (92)

miRTarBase ID	miRNA	Experiments
MIRT1045323	hsa-miR-1324	CLIP-seq
MIRT1045324	hsa-miR-4645-3p	CLIP-seq
MIRT1045325	hsa-miR-548aa	CLIP-seq
MIRT1045326	hsa-miR-548ac	CLIP-seq
MIRT1045327	hsa-miR-548d-3p	CLIP-seq
MIRT1045328	hsa-miR-548z	CLIP-seq
MIRT1045329	hsa-miR-4446-5p	CLIP-seq
MIRT1045330	hsa-miR-4474-5p	CLIP-seq
MIRT1045331	hsa-miR-4775	CLIP-seq
MIRT1045332	hsa-miR-5096	CLIP-seq
MIRT1045333	hsa-miR-548c-3p	CLIP-seq
MIRT1045334	hsa-miR-590-3p	CLIP-seq
MIRT1045335	hsa-miR-598	CLIP-seq
MIRT1045336	hsa-miR-944	CLIP-seq
MIRT2242355	hsa-miR-1245b-3p	CLIP-seq
MIRT2242356	hsa-miR-3144-3p	CLIP-seq
MIRT2242357	hsa-miR-330-3p	CLIP-seq
MIRT2242358	hsa-miR-410	CLIP-seq
MIRT2242359	hsa-miR-4691-3p	CLIP-seq
MIRT2242360	hsa-miR-496	CLIP-seq
MIRT2242361	hsa-miR-607	CLIP-seq
MIRT2242362	hsa-miR-875-5p	CLIP-seq
MIRT2388955	hsa-miR-1287	CLIP-seq
MIRT2388956	hsa-miR-1290	CLIP-seq
MIRT2388957	hsa-miR-214	CLIP-seq
MIRT2388958	hsa-miR-3167	CLIP-seq
MIRT2388959	hsa-miR-3619-5p	CLIP-seq
MIRT2388960	hsa-miR-3652	CLIP-seq
MIRT2242358	hsa-miR-410	CLIP-seq
MIRT2388961	hsa-miR-4430	CLIP-seq
MIRT2388962	hsa-miR-4514	CLIP-seq
MIRT2388963	hsa-miR-4690-5p	CLIP-seq
MIRT2242359	hsa-miR-4691-3p	CLIP-seq
MIRT2388964	hsa-miR-4692	CLIP-seq
MIRT2388965	hsa-miR-761	CLIP-seq
MIRT2388966	hsa-miR-876-5p	CLIP-seq
MIRT2242355	hsa-miR-1245b-3p	CLIP-seq
MIRT1045323	hsa-miR-1324	CLIP-seq
MIRT2545946	hsa-miR-25	CLIP-seq
MIRT2545947	hsa-miR-32	CLIP-seq
MIRT2545948	hsa-miR-320a	CLIP-seq
MIRT2545949	hsa-miR-320b	CLIP-seq
MIRT2545950	hsa-miR-320c	CLIP-seq
MIRT2545951	hsa-miR-320d	CLIP-seq
MIRT2545952	hsa-miR-323b-3p	CLIP-seq
MIRT2242357	hsa-miR-330-3p	CLIP-seq
MIRT2545953	hsa-miR-363	CLIP-seq
MIRT2545954	hsa-miR-367	CLIP-seq
MIRT2545955	hsa-miR-3674	CLIP-seq
MIRT2545956	hsa-miR-3675-3p	CLIP-seq
MIRT2242358	hsa-miR-410	CLIP-seq
MIRT2545957	hsa-miR-4429	CLIP-seq
MIRT1045324	hsa-miR-4645-3p	CLIP-seq
MIRT2242359	hsa-miR-4691-3p	CLIP-seq
MIRT2242360	hsa-miR-496	CLIP-seq
MIRT1045325	hsa-miR-548aa	CLIP-seq
MIRT1045326	hsa-miR-548ac	CLIP-seq
MIRT1045327	hsa-miR-548d-3p	CLIP-seq
MIRT1045328	hsa-miR-548z	CLIP-seq
MIRT2545958	hsa-miR-606	CLIP-seq
MIRT2242361	hsa-miR-607	CLIP-seq
MIRT2545959	hsa-miR-891b	CLIP-seq
MIRT2545960	hsa-miR-92a	CLIP-seq
MIRT2545961	hsa-miR-92b	CLIP-seq
MIRT2242355	hsa-miR-1245b-3p	CLIP-seq
MIRT1045323	hsa-miR-1324	CLIP-seq
MIRT2545946	hsa-miR-25	CLIP-seq
MIRT2545947	hsa-miR-32	CLIP-seq
MIRT2545948	hsa-miR-320a	CLIP-seq
MIRT2545949	hsa-miR-320b	CLIP-seq
MIRT2545950	hsa-miR-320c	CLIP-seq
MIRT2545951	hsa-miR-320d	CLIP-seq
MIRT2545952	hsa-miR-323b-3p	CLIP-seq
MIRT2242357	hsa-miR-330-3p	CLIP-seq
MIRT2545953	hsa-miR-363	CLIP-seq
MIRT2545954	hsa-miR-367	CLIP-seq
MIRT2545955	hsa-miR-3674	CLIP-seq
MIRT2545956	hsa-miR-3675-3p	CLIP-seq
MIRT2242358	hsa-miR-410	CLIP-seq
MIRT2545957	hsa-miR-4429	CLIP-seq
MIRT1045324	hsa-miR-4645-3p	CLIP-seq
MIRT2242359	hsa-miR-4691-3p	CLIP-seq
MIRT2242360	hsa-miR-496	CLIP-seq
MIRT1045325	hsa-miR-548aa	CLIP-seq
MIRT1045326	hsa-miR-548ac	CLIP-seq
MIRT1045327	hsa-miR-548d-3p	CLIP-seq
MIRT1045328	hsa-miR-548z	CLIP-seq
MIRT2545958	hsa-miR-606	CLIP-seq
MIRT2242361	hsa-miR-607	CLIP-seq
MIRT2545959	hsa-miR-891b	CLIP-seq
MIRT2545960	hsa-miR-92a	CLIP-seq
MIRT2545961	hsa-miR-92b	CLIP-seq

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003860	Function	3-hydroxyisobutyryl-CoA hydrolase activity	EXP	8824301
GO:0003860	Function	3-hydroxyisobutyryl-CoA hydrolase activity	IBA
GO:0003860	Function	3-hydroxyisobutyryl-CoA hydrolase activity	IDA	8824301
GO:0003860	Function	3-hydroxyisobutyryl-CoA hydrolase activity	IEA
GO:0003860	Function	3-hydroxyisobutyryl-CoA hydrolase activity	TAS
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006574	Process	L-valine catabolic process	IBA
GO:0006574	Process	L-valine catabolic process	IEA
GO:0009083	Process	Branched-chain amino acid catabolic process	IEA
GO:0009083	Process	Branched-chain amino acid catabolic process	TAS
GO:0016787	Function	Hydrolase activity	IEA

MIM	HGNC	e!Ensembl
610690	4908	ENSG00000198130

Q6NVY1

Protein name

3-hydroxyisobutyryl-CoA hydrolase, mitochondrial (EC 3.1.2.4) (3-hydroxyisobutyryl-coenzyme A hydrolase) (HIB-CoA hydrolase) (HIBYL-CoA-H)

Protein function

Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite. Has high activity toward isobutyryl-CoA. Could be an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Also hydrolyzes 3-hydroxypropanoyl-CoA. {ECO:0000269|PubM

PDB

3BPT

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16113	ECH_2	46 → 376	Enoyl-CoA hydratase/isomerase	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in liver and kidney, also detected in heart, muscle and brain (at protein level). Not detected in lung. {ECO:0000269|PubMed:8824301}.

Sequence

MGQREMWRLMSRFNAFKRTNTILHHLRMSKHTDAAEEVLLEKKGCTGVITLNRPKFLNAL
TLNMIRQIYPQLKKWEQDPETFLIIIKGAGGKAFCAGGDIRVISEAEKAKQKIAPVFFRE
EYMLNNAVGSCQKPYVALIHGITMGGGVGLSVHGQFRVATEKCLFAMPETAIGLFPDVGG
GYFLPRLQGKLGYFLALTGFRLKGRDVYRAGIATHFVDSEKLAMLEEDLLALKSPSKENI
ASVLENYHTESKIDRDKSFILEEHMDKINSCFSANTVEEIIENLQQDGSSFALEQLKVIN
KMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQACMRGHDFHEGVRAVLIDKDQSPKWK
PADLKEVTEEDLNNHFKSLGSSDLKF

Sequence length

386

Interactions

View interactions

	KEGG		Reactome
	Valine, leucine and isoleucine degradation beta-Alanine metabolism Propanoate metabolism Metabolic pathways Carbon metabolism		Branched-chain amino acid catabolism

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
3-hydroxyisobutyryl-CoA hydrolase deficiency	Likely pathogenic; Pathogenic	rs2105952039, rs759563092, rs1203170244, rs2105985080, rs915412371, rs1364971527, rs786200864, rs778922921, rs786204004, rs1252871654, rs751676774, rs757976755, rs148693438, rs767597690, rs770114459 View all (15 more)	RCV001782252 RCV001806394 RCV001809189 RCV002036141 RCV001980827 View all (25 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cervical cancer	Likely pathogenic	rs915412371	RCV005925520	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HIBCH-related disorder	Likely pathogenic; Pathogenic	rs776592661	RCV003413630	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency	Likely pathogenic	rs1553501873	RCV000625906	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (20)

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.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BETA-HYDROXYISOBUTYRYL COA DEACYLASE DEFICIENCY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely 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
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial disease	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (42)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	40286336	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency	Beta-Hydroxyisobutyryl CoA Deacylase Deficiency	ORPHANET_DG	17160907, 24299452		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency	Beta-Hydroxyisobutyryl CoA Deacylase Deficiency	UNIPROT_DG	17160907		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency	Beta-Hydroxyisobutyryl CoA Deacylase Deficiency	CLINGEN_DG	17160907, 24299452, 26026795, 26163321, 27896122, 29703962, 30847210		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency	Beta-Hydroxyisobutyryl CoA Deacylase Deficiency	CLINVAR_DG	17160907, 26163321		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency	Beta-Hydroxyisobutyryl CoA Deacylase Deficiency	GENOMICS_ENGLAND_DG	24299452, 27604308, 7122152		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency	Beta-Hydroxyisobutyryl CoA Deacylase Deficiency	BEFREE	25251209		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency	Beta-Hydroxyisobutyryl CoA Deacylase Deficiency	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37638005	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31409769		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	CTD_human_DG	18784066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	37084480, 39280009	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	31679561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	26352407	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	25251209		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	25125611, 25591832, 26099313		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24325914	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	39280009	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement Disorders	Movement disorder	Pubtator	36200804	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31121957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency	Neurodegeneration	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	Neurodegeneration	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	17160907	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	27400804		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthrosis Deformans	Osteoarthrosis Deformans	CTD_human_DG	18784066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24795352	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitamin B 12 Deficiency	Vitamin b deficiency	Pubtator	31203192	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitamin B 12 Deficiency	Vitamin b deficiency	Pubtator	31203192	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

HIBCH (3-hydroxyisobutyryl-CoA hydrolase)