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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	34
Gene name	Acyl-CoA dehydrogenase medium chain
Gene symbol	ACADM
Synonyms (NCBI Gene)	ACAD1MCADMCADH
Chromosome	1
Chromosome location	1p31.1
Summary	This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-C

118

Show/Hide all (118)

SNP ID	Visualize variation	Clinical significance	Consequence
rs74090726	A>C	Benign, benign-likely-benign, risk-factor	Synonymous variant, coding sequence variant, intron variant
rs77931234	A>C,G	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant
rs113887538	G>A,T	Likely-pathogenic	Intron variant, splice donor variant
rs121434274	G>A	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121434275	T>C	Pathogenic	Missense variant, coding sequence variant
rs121434276	T>C	Pathogenic	Missense variant, coding sequence variant
rs121434277	G>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, intron variant, coding sequence variant
rs121434278	G>A	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121434279	A>G	Pathogenic	Missense variant, coding sequence variant
rs121434280	T>C	Pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, coding sequence variant
rs121434281	C>T	Likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs121434282	G>C	Pathogenic	Missense variant, coding sequence variant
rs121434283	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, intron variant, coding sequence variant
rs138098371	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant
rs143911981	C>T	Conflicting-interpretations-of-pathogenicity	3 prime UTR variant
rs147559466	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, 5 prime UTR variant, coding sequence variant
rs148207467	C>A,T	Likely-pathogenic, pathogenic	Stop gained, synonymous variant, coding sequence variant
rs148260275	T>C	Pathogenic-likely-pathogenic	Splice donor variant
rs200754053	G>A,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs201375579	A>G	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs387906297	TTAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs398123072	C>G,T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs398123073	T>C,G	Pathogenic	Splice donor variant
rs398123074	T>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs398123075	G>A,C,T	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant
rs745844469	A>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs746136472	T>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs747268471	G>A	Pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs747610156	G>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs748110745	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs749529577	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs753928772	C>A,T	Uncertain-significance, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs754359356	T>A,C	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, synonymous variant, missense variant
rs754833969	T>A,C	Pathogenic-likely-pathogenic	5 prime UTR variant, coding sequence variant, synonymous variant, stop gained
rs757434857	A>G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs758753966	A>C	Pathogenic	Splice acceptor variant
rs759158371	T>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs759254037	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs760892123	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs761317029	A>G	Likely-pathogenic	Splice acceptor variant
rs762114560	C>T	Pathogenic-likely-pathogenic, pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs764942250	T>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs765793260	T>G	Pathogenic	Intron variant
rs766140986	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs766173642	CA>-,CACA	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs768884003	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs769331400	G>A	Pathogenic	Splice donor variant
rs773677327	A>G	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs777998984	G>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs778906552	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs779759347	G>C	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs780504551	A>T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs786204424	G>-	Pathogenic, conflicting-interpretations-of-pathogenicity	Splice donor variant, coding sequence variant, intron variant
rs786204566	->T	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs786204631	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs786204642	CTGA>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs794727694	G>C	Pathogenic	Splice acceptor variant, intron variant
rs796051896	C>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs796051901	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs864621963	GGATGT>-	Pathogenic	Coding sequence variant, intron variant, inframe deletion
rs866388216	G>A	Likely-pathogenic	Splice donor variant
rs875989854	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, intron variant
rs875989857	AAG>-	Likely-pathogenic, uncertain-significance	Coding sequence variant, intron variant, inframe deletion
rs875989859	G>A	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs875989860	AA>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs875989864	->T	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs875989867	A>G	Pathogenic	Missense variant, coding sequence variant
rs875989869	G>A	Pathogenic	Splice acceptor variant
rs875989872	GCAATGGGAGCTT>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs875989873	ATTA>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs875989874	->TAGAATGAGTTAC	Pathogenic	Coding sequence variant, stop gained, inframe indel
rs875989875	->GATTTAG	Pathogenic-likely-pathogenic	Coding sequence variant, intron variant, stop gained, inframe indel
rs875989876	T>C	Pathogenic	Missense variant, coding sequence variant, intron variant
rs875989877	->T	Pathogenic	Coding sequence variant, frameshift variant
rs878853106	G>A	Pathogenic	Splice donor variant
rs879234543	A>C,T	Likely-pathogenic	Splice acceptor variant
rs886042087	AAA>-,AA	Pathogenic, uncertain-significance	Frameshift variant, inframe deletion, intron variant, coding sequence variant
rs941714381	G>A	Likely-pathogenic	Splice acceptor variant
rs1057516278	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1057516463	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516480	T>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1057516485	C>A,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs1057516564	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516801	G>T	Likely-pathogenic	Splice donor variant
rs1057516983	G>A,T	Likely-pathogenic, pathogenic	Splice donor variant, intron variant
rs1057517103	AT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517179	AG>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1057517356	AGTA>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1057517411	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057518408	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518677	A>G	Likely-pathogenic	Intron variant, splice acceptor variant
rs1057520214	A>C	Likely-pathogenic, uncertain-significance	Missense variant, 5 prime UTR variant, coding sequence variant
rs1057521114	A>G	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1215335509	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1225471006	->TAGAATGAGTTAC	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1227800781	A>G	Pathogenic	Coding sequence variant, missense variant
rs1319192670	T>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1325949559	C>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1348176225	C>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1462472677	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1553122996	T>G	Likely-pathogenic	Splice donor variant
rs1553123071	->G	Likely-pathogenic, pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1553123857	A>C	Likely-pathogenic	Splice acceptor variant
rs1553123871	GA>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1553125211	A>C	Likely-pathogenic	Splice acceptor variant
rs1553125264	GCT>CC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553127172	TTGAACTAGCTAGAATGAGTTA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553127216	A>C	Pathogenic	Coding sequence variant, missense variant
rs1553127378	G>C	Likely-pathogenic	Splice acceptor variant
rs1557446524	G>T	Likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs1557457623	GTGACGGAGC>TTTAA	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs1557458562	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1557466604	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1570851702	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1570861829	G>A	Pathogenic	Splice acceptor variant
rs1570866192	ATT>-	Pathogenic	Coding sequence variant, inframe deletion, intron variant
rs1570876467	T>C	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1570891615	G>T	Likely-pathogenic	Coding sequence variant, stop gained

Show/Hide all (70)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004953	hsa-miR-98-5p	qRT-PCR	17942906
MIRT021871	hsa-miR-128-3p	Microarray	17612493
MIRT028946	hsa-miR-26b-5p	Microarray	19088304
MIRT755551	hsa-miR-16-2-3p	Luciferase reporter assayWestern blottingqRT-PCR	38336726
MIRT761447	hsa-miR-106a	CLIP-seq
MIRT761448	hsa-miR-106b	CLIP-seq
MIRT761449	hsa-miR-1297	CLIP-seq
MIRT761450	hsa-miR-1305	CLIP-seq
MIRT761451	hsa-miR-154	CLIP-seq
MIRT761452	hsa-miR-17	CLIP-seq
MIRT761453	hsa-miR-20a	CLIP-seq
MIRT761454	hsa-miR-20b	CLIP-seq
MIRT761455	hsa-miR-26a	CLIP-seq
MIRT761456	hsa-miR-26b	CLIP-seq
MIRT761457	hsa-miR-3609	CLIP-seq
MIRT761458	hsa-miR-3668	CLIP-seq
MIRT761459	hsa-miR-380	CLIP-seq
MIRT761460	hsa-miR-4465	CLIP-seq
MIRT761461	hsa-miR-4703-3p	CLIP-seq
MIRT761462	hsa-miR-4760-3p	CLIP-seq
MIRT761463	hsa-miR-4796-3p	CLIP-seq
MIRT761464	hsa-miR-498	CLIP-seq
MIRT761465	hsa-miR-519d	CLIP-seq
MIRT761466	hsa-miR-548ah	CLIP-seq
MIRT761467	hsa-miR-569	CLIP-seq
MIRT761468	hsa-miR-578	CLIP-seq
MIRT761469	hsa-miR-93	CLIP-seq
MIRT2165774	hsa-miR-590-3p	CLIP-seq
MIRT2383795	hsa-miR-221	CLIP-seq
MIRT2383796	hsa-miR-222	CLIP-seq
MIRT2383797	hsa-miR-323-3p	CLIP-seq
MIRT2383798	hsa-miR-513a-3p	CLIP-seq
MIRT2383799	hsa-miR-544	CLIP-seq
MIRT2383800	hsa-miR-548v	CLIP-seq
MIRT2468368	hsa-miR-144	CLIP-seq
MIRT2468369	hsa-miR-194	CLIP-seq
MIRT2468370	hsa-miR-338-5p	CLIP-seq
MIRT2468371	hsa-miR-3671	CLIP-seq
MIRT2468372	hsa-miR-4263	CLIP-seq
MIRT2468373	hsa-miR-4272	CLIP-seq
MIRT2468374	hsa-miR-4495	CLIP-seq
MIRT2468375	hsa-miR-4635	CLIP-seq
MIRT2468376	hsa-miR-4645-3p	CLIP-seq
MIRT2468377	hsa-miR-4652-3p	CLIP-seq
MIRT2468378	hsa-miR-4799-5p	CLIP-seq
MIRT2383798	hsa-miR-513a-3p	CLIP-seq
MIRT2468379	hsa-miR-576-5p	CLIP-seq
MIRT2468380	hsa-miR-607	CLIP-seq
MIRT2468381	hsa-miR-616	CLIP-seq
MIRT2468368	hsa-miR-144	CLIP-seq
MIRT2468369	hsa-miR-194	CLIP-seq
MIRT2674210	hsa-miR-3163	CLIP-seq
MIRT2468370	hsa-miR-338-5p	CLIP-seq
MIRT2468371	hsa-miR-3671	CLIP-seq
MIRT2468372	hsa-miR-4263	CLIP-seq
MIRT2468373	hsa-miR-4272	CLIP-seq
MIRT2674211	hsa-miR-4282	CLIP-seq
MIRT2468374	hsa-miR-4495	CLIP-seq
MIRT2468375	hsa-miR-4635	CLIP-seq
MIRT2468376	hsa-miR-4645-3p	CLIP-seq
MIRT2468377	hsa-miR-4652-3p	CLIP-seq
MIRT2468378	hsa-miR-4799-5p	CLIP-seq
MIRT2674212	hsa-miR-494	CLIP-seq
MIRT2383798	hsa-miR-513a-3p	CLIP-seq
MIRT2674213	hsa-miR-520d-5p	CLIP-seq
MIRT2674214	hsa-miR-524-5p	CLIP-seq
MIRT2468379	hsa-miR-576-5p	CLIP-seq
MIRT2674215	hsa-miR-581	CLIP-seq
MIRT2468380	hsa-miR-607	CLIP-seq
MIRT2468381	hsa-miR-616	CLIP-seq

Show/Hide all (47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001889	Process	Liver development	IEA
GO:0003995	Function	Acyl-CoA dehydrogenase activity	IDA	19224950
GO:0003995	Function	Acyl-CoA dehydrogenase activity	IEA
GO:0003995	Function	Acyl-CoA dehydrogenase activity	IMP	2393404
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	1731887
GO:0005759	Component	Mitochondrial matrix	IDA	16020546
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005978	Process	Glycogen biosynthetic process	IEA
GO:0006082	Process	Organic acid metabolic process	IEA
GO:0006111	Process	Regulation of gluconeogenesis	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IMP	2393404
GO:0007507	Process	Heart development	IEA
GO:0009409	Process	Response to cold	IEA
GO:0009437	Process	Carnitine metabolic process	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016627	Function	Oxidoreductase activity, acting on the CH-CH group of donors	IEA
GO:0019254	Process	Carnitine metabolic process, CoA-linked	IEA
GO:0019254	Process	Carnitine metabolic process, CoA-linked	IMP	16972171
GO:0030424	Component	Axon	IDA	21237683
GO:0031966	Component	Mitochondrial membrane	IDA	16020546
GO:0033539	Process	Fatty acid beta-oxidation using acyl-CoA dehydrogenase	IDA	1902818, 3597357, 19224950, 25416781
GO:0033539	Process	Fatty acid beta-oxidation using acyl-CoA dehydrogenase	IEA
GO:0033539	Process	Fatty acid beta-oxidation using acyl-CoA dehydrogenase	IMP	16972171
GO:0042594	Process	Response to starvation	IEA
GO:0042802	Function	Identical protein binding	IDA	19224950
GO:0042802	Function	Identical protein binding	IPI	37257730
GO:0045329	Process	Carnitine biosynthetic process	IMP	16972171
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA
GO:0051791	Process	Medium-chain fatty acid metabolic process	IDA	1970566
GO:0051791	Process	Medium-chain fatty acid metabolic process	IEA
GO:0051793	Process	Medium-chain fatty acid catabolic process	IBA
GO:0051793	Process	Medium-chain fatty acid catabolic process	IDA	1970566
GO:0055007	Process	Cardiac muscle cell differentiation	IEA
GO:0070991	Function	Medium-chain fatty acyl-CoA dehydrogenase activity	IBA
GO:0070991	Function	Medium-chain fatty acyl-CoA dehydrogenase activity	IDA	1902818, 1970566, 3597357, 19224950
GO:0070991	Function	Medium-chain fatty acyl-CoA dehydrogenase activity	IEA

MIM	HGNC	e!Ensembl
607008	89	ENSG00000117054

P11310

Protein name

Medium-chain specific acyl-CoA dehydrogenase, mitochondrial (MCAD) (EC 1.3.8.7) (Medium chain acyl-CoA dehydrogenase) (MCADH)

Protein function

Medium-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation, an aerobic process breaking down fatty acids into acetyl-CoA and allowing the production

PDB

1EGC , 1EGD , 1EGE , 1T9G , 2A1T , 4P13 , 8SGP

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02771	Acyl-CoA_dh_N	42 → 152	Acyl-CoA dehydrogenase, N-terminal domain	Domain
PF02770	Acyl-CoA_dh_M	157 → 255	Acyl-CoA dehydrogenase, middle domain	Domain
PF00441	Acyl-CoA_dh_1	267 → 416	Acyl-CoA dehydrogenase, C-terminal domain	Domain

Sequence

MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEI
IPVAAEYDKTGEYPVPLIRRAWELGLMNTHIPENCGGLGLGTFDACLISEELAYGCTGVQ
TAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCVTEPGAGSDVAGIKTKAEKKG
DEYIINGQKMWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRKELNM
GQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTRPVVAAGAVGLAQRALDEAT
KYALERKTFGKLLVEHQAISFMLAEMAMKVELARMSYQRAAWEVDSGRRNTYYASIAKAF
AGDIANQLATDAVQILGGNGFNTEYPVEKLMRDAKIYQIYEGTSQIQRLIVAREHIDKYK
N

Sequence length

421

Interactions

View interactions

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 (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ACADM-related disorder	Likely pathogenic; Pathogenic	rs77931234, rs1225471006, rs121434274, rs121434277, rs387906297, rs121434283, rs201375579, rs766140986, rs866388216, rs370523609, rs757434857, rs2525698694, rs1057516485	RCV003430631 RCV003914801 RCV003415641 RCV003398435 RCV003924798 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deficiency of butyryl-CoA dehydrogenase	Likely pathogenic; Pathogenic	rs121434274	RCV005644472	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic spasm	Likely pathogenic; Pathogenic	rs77931234, rs201375579	RCV001526621 RCV001526622	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioma susceptibility 1	Pathogenic	rs2525609308	RCV005934656	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrocephalus, nonsyndromic, autosomal recessive 2	Likely pathogenic; Pathogenic	rs770273135	RCV000505849	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Likely pathogenic	rs1057516983	RCV005900637	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
	Likely pathogenic; Pathogenic	rs387906297, rs866388216	RCV005638397 RCV006257285	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely pathogenic; Pathogenic	rs983879715, rs1647169738, rs2100363487, rs2100370448, rs1323513432, rs2100362899, rs2100363563, rs2100366089, rs1647480996, rs2100417735, rs780737237, rs148207467, rs2100453612, rs2100453287, rs2100363479 View all (249 more)	RCV001367447 RCV001377846 RCV001378913 RCV001379401 RCV001378635 View all (283 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (10)

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.
ENTEROCOLITIS, NECROTIZING	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER FAILURE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NECROTIZING ENTEROCOLITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; -	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALAAM SEIZURES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	-	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 (59)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	31744213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	11263545	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28974683		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33221754, 34528699, 37460577	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	35076175	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	38103512	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28977850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29301869, 8941110, 9852194		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31788359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crisponi syndrome	Crisponi syndrome	Pubtator	26329309	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal arthrogryposis syndrome	Distal arthrogryposis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	27871288	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34039636, 36838582	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34039636	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen Storage Disease	BEFREE	25451272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	19224950, 37950149	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	8941110, 9852194		★★★★★ ★☆☆☆☆ Found in Text Mining only
HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES	Hydrocephalus, Congenital, With Or Without Brain Or Eye Anomalies	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERGLYCINURIA (disorder)	Hyperglycinuria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	10529389, 1594327, 20532823, 22630369, 23028790, 23509891		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	7929823	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemic coma	Hypoglycemic coma	BEFREE	1684086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	20036593, 27856190, 8127075		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	38103512	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	9852194		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	CTD_human_DG	9090694		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Failure, Acute	Liver failure	LHGDN	17186412		★★★★★ ★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	15466077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28974683		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Medium chain acyl-CoA dehydrogenase deficiency	Medium Chain Acyl-CoA Dehydrogenase Deficiency	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Medium-chain acyl-coenzyme A dehydrogenase deficiency	Medium Chain Acyl-CoA Dehydrogenase Deficiency	UNIPROT_DG	10767181, 11349232, 11409868, 11486912, 1363805, 1671131, 1684086, 1902818, 2251268, 2393404, 2394825, 7603790, 7929823, 8198141, 9158144, 9882619 View all (1 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Medium-chain acyl-coenzyme A dehydrogenase deficiency	Medium Chain Acyl-CoA Dehydrogenase Deficiency	CLINVAR_DG	10767181, 11349232, 11409868, 11673361, 1356169, 15171998, 15479234, 15832312, 15915086, 16121256, 16291504, 16737882, 16763904, 1684086, 17273963 View all (73 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Medium-chain acyl-coenzyme A dehydrogenase deficiency	Medium Chain Acyl-CoA Dehydrogenase Deficiency	BEFREE	11263545, 1356169, 14707514, 14970748, 15171999, 15466077, 15915086, 1594327, 1601002, 1684086, 17273963, 18188679, 18836889, 1902818, 19224950 View all (13 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Medium-chain acyl-coenzyme A dehydrogenase deficiency	Medium Chain Acyl-CoA Dehydrogenase Deficiency	CLINGEN_DG	16121256, 18241067, 1972503, 23028790, 3968063, 6857268		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Medium-chain acyl-coenzyme A dehydrogenase deficiency	Medium Chain Acyl-CoA Dehydrogenase Deficiency	GENOMICS_ENGLAND_DG	24816252, 6434827		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Medium-chain acyl-coenzyme A dehydrogenase deficiency	Medium Chain Acyl-CoA Dehydrogenase Deficiency	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Metabolic Diseases	Metabolic Diseases	BEFREE	1570195, 15915086, 7966191, 8338987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	37635484	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	29317722, 34039636, 38103512	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	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	28974683, 31839812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	31560547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29563254		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	CTD_human_DG	20882379		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	26329309	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	24204994	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	29258568		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carnitine transport defect	Renal Carnitine Transport Defect	BEFREE	29519241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
VLCAD deficiency	Very long-chain acyl-coa dehydrogenase deficiency	Pubtator	19649258	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ACADM (acyl-CoA dehydrogenase medium chain)