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ACADM (acyl-CoA dehydrogenase medium chain)

Gene

Acyl-CoA dehydrogenase medium chain

ACADM

ACAD1, MCAD, MCADH

1p31.1

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

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 assay, Western blotting, qRT-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(24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003995	Function	Acyl-CoA dehydrogenase activity	IDA	19224950
GO:0003995	Function	Acyl-CoA dehydrogenase activity	IMP	2393404
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA
GO:0005759	Component	Mitochondrial matrix	IDA	16020546
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006635	Process	Fatty acid beta-oxidation	IBA	21873635
GO:0006635	Process	Fatty acid beta-oxidation	IMP	2393404
GO:0006635	Process	Fatty acid beta-oxidation	TAS
GO:0019216	Process	Regulation of lipid metabolic process	TAS
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	IMP	16972171
GO:0042802	Function	Identical protein binding	IDA	19224950
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:0051793	Process	Medium-chain fatty acid catabolic process	IBA	21873635
GO:0051793	Process	Medium-chain fatty acid catabolic process	IDA	1970566
GO:0070991	Function	Medium-chain-acyl-CoA dehydrogenase activity	IBA	21873635
GO:0070991	Function	Medium-chain-acyl-CoA dehydrogenase activity	IDA	1902818, 1970566, 3597357, 19224950

MIM	HGNC	e!Ensembl
607008	89	ENSG00000117054

Protein

UniProt ID

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

	KEGG		Reactome
	Fatty acid degradation Valine, leucine and isoleucine degradation Metabolic pathways Fatty acid metabolism PPAR signaling pathway Alcoholic liver disease		PPARA activates gene expression mitochondrial fatty acid beta-oxidation of unsaturated fatty acids Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA Beta oxidation of octanoyl-CoA to hexanoyl-CoA

Associated diseases

Show/Hide Causal Diseases (10)

Causal
Disease name	Disease term	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Distal arthrogryposis	Distal arthrogryposis syndrome	rs121434638, rs104894127, rs104894129, rs137853305, rs137853306, rs199476153, rs199476147, rs121913619, rs879255230, rs387906657, rs387906658, rs199474721, rs587776917, rs587776918, rs587776919, rs587776920, rs587777129, rs587777130, rs587777131, rs199476146, rs606231471, rs370167241, rs765430577, rs878853117, rs878853118, rs1555621138, rs149459910, rs1553566820, rs1553567411, rs1553567937, rs1341894581, rs201987709, rs1554658995, rs1554289078, rs762979130, rs1554659746, rs1555242493, rs1555769818, rs1567973091, rs1563929039, rs1563929143, rs1350968647, rs1356994386, rs1229171141, rs1567559027, rs1563929383, rs113612402, rs1465836003, rs1597490381, rs1190799930, rs767987856, rs1587956195, rs1281970248, rs1575076514, rs1597482824, rs1825151618
Febrile seizures	Febrile Convulsions	rs121909761, rs121909672, rs121909673, rs121909674, rs1561645243, rs267606837, rs796052510, rs1553553485, rs1554097890, rs1554101202, rs1554098226, rs765574676, rs1045493304
Liver failure	Liver Failure	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682	9090694
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Medium chain acyl-coa dehydrogenase deficiency	Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium chain acyl-CoA dehydrogenase deficiency	rs77931234, rs1225471006, rs121434274, rs121434275, rs121434276, rs121434277, rs387906297, rs864621963, rs121434278, rs121434279, rs121434282, rs121434280, rs121434281, rs121434283, rs398123072, rs398123073, rs398123074, rs373715782, rs200724875, rs786204566, rs786204642, rs761317029, rs786204631, rs148207467, rs794727694, rs778906552, rs777998984, rs770273135, rs201375579, rs796051901, rs766140986, rs875989875, rs762114560, rs875989873, rs875989859, rs875989876, rs875989869, rs773677327, rs866388216, rs370523609, rs751829413, rs875989867, rs768884003, rs875989872, rs779759347, rs875989864, rs747610156, rs796051896, rs759158371, rs875989877, rs875989860, rs758753966, rs757434857, rs1057516778, rs113887538, rs1057517179, rs1057516801, rs1057516480, rs766173642, rs1057516983, rs1057517356, rs749529577, rs148260275, rs941714381, rs1057516564, rs1057517103, rs1057516485, rs1057516463, rs1057517411, rs1057516278, rs748110745, rs879234543, rs1057518677, rs1057520215, rs1553123071, rs1553124803, rs1227800781, rs1553127172, rs886042087, rs771978135, rs1215335509, rs1553127216, rs1325949559, rs1553123857, rs1553124805, rs1553127378, rs780504551, rs769331400, rs1553121887, rs768596219, rs1553122996, rs1553125211, rs1553125264, rs1319192670, rs1557457623, rs1557466604, rs1557458562, rs1557446524, rs1570851702, rs1570866192, rs1570861829, rs754833969, rs1570891615, rs1570876467, rs1647188308, rs750792245, rs1260394550, rs745844469, rs1647485086, rs1486350523, rs1647873033, rs1648824675, rs1648825926, rs150310121, rs139686925, rs1647165465	15832312, 20036593, 1972503, 7730333, 19649258, 18241067, 9158144, 23430840, 24294134, 16763904, 21083904, 20434380, 27477829, 15479234, 11409868, 21483992, 28581210, 23574375, 7652482, 8102510, 19156839, 26947917, 7929823, 22975760, 7904584, 18075239, 2394825, 15915086, 24623196, 7603790, 6857268, 8104486, 1363805, 19224950, 11486912, 23798014, 22796001, 25940036, 26215884, 6434827, 2393404, 15171998, 19780764, 2251268, 16291504, 27308838, 8198141, 23028790, 27856190, 23700290, 21228398, 26223887, 23509891, 21704015, 22630369, 22542437, 24082139, 3968063, 17273963, 1684086, 20567907, 1729890, 22683754, 10767181, 23810226, 25087612, 20333879, 1902818, 24799540, 9797589, 24966162, 25503862, 11673361, 18767270, 22848008, 23829193, 16121256, 25333063, 24998633, 27751224, 29519241, 16737882, 21239873, 25763512, 11349232, 8535441, 18450854, 18188679, 23842438, 24718418, 20437613, 1356169, 19064330, 27943070, 24816252, 23095120, 1671131, 22166308, 9882619
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840	20882379
Seizure	Tonic - clonic seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Show/Hide Unknown Diseases (6)

Unknown
Disease name	Disease term	dbSNP ID	References
Fatty liver	Fatty Liver, Steatohepatitis
Hydrocephalus, congenital, with or without brain or eye anomalies	HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES
Hyperglycinuria	HYPERGLYCINURIA (disorder)	rs35329108, rs77010315, rs371203963, rs17279437, rs569114783, rs886058526, rs2742388, rs17078308, rs763196010, rs539802611, rs570836605, rs531832972, rs368608688, rs774194927, rs886058536, rs73060335, rs60986539, rs371002443, rs144563792, rs775911371, rs747095857, rs758386, rs561215947, rs2742399, rs777914805, rs373219947, rs2271616, rs2251109, rs886058525, rs886058527, rs554759297, rs747117264, rs150768360, rs541425547, rs17213127, rs577430886, rs886058529, rs560591051, rs57468640, rs866725621, rs144151884, rs116590098, rs9811206, rs886058535, rs886058537, rs553024616, rs886058538, rs202094508, rs144826762, rs771872725, rs139940581, rs13314717, rs373600065, rs886058548, rs567898651, rs115438130, rs530275150, rs778688066, rs886058530, rs139410525, rs886058534, rs2531750, rs2251347, rs541823457, rs886058539, rs376448611, rs886058541, rs139256040, rs148597602, rs149854452, rs34458611, rs2276858, rs886058544, rs779053318, rs202049492, rs565896481, rs886058546, rs2271615, rs760366170, rs886058547, rs562961153, rs116082988, rs886058528, rs886058531, rs886058532, rs886058533, rs535180634, rs149175344, rs886058540, rs575264353, rs2191027, rs147777980, rs886058542, rs886058543, rs886058545, rs145164127, rs781203780, rs886058549, rs766388628, rs756010661
Hypoglycemia	Hypoglycemia
Ketosis	Ketosis
Necrotizing enterocolitis	Necrotizing Enterocolitis		18806098

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