ACAD8 (acyl-CoA dehydrogenase family member 8)

Gene

• Entrez ID: 27034
• Gene name: Acyl-CoA dehydrogenase family member 8
• Gene symbol: ACAD8
• Synonyms: ACAD-8, ARC42, IBDH
• Chromosome: 11
• Chromosome location: 11q25
• Summary: This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. The encoded protein is a mitochondrial enzyme that functio

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs113488591	C>G	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121908418	T>C	Pathogenic	Coding sequence variant, missense variant
rs121908419	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, 3 prime UTR variant
rs121908420	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, 3 prime UTR variant
rs121908421	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant, 3 prime UTR variant
rs121908422	G>A,C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, 3 prime UTR variant
rs200620279	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, 3 prime UTR variant
rs367857040	G>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs374317179	G>A	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant, initiator codon variant
rs398124269	->CT	Pathogenic	Coding sequence variant, frameshift variant
rs751633406	G>A	Uncertain-significance, likely-pathogenic	Intron variant, 5 prime UTR variant, coding sequence variant, missense variant
rs767613745	T>C	Likely-pathogenic	Intron variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs777756488	G>A	Pathogenic	Splice donor variant
rs778203609	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs779385985	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555067461	G>C	Likely-pathogenic	Splice donor variant, 3 prime UTR variant
rs1591505809	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, upstream transcript variant, synonymous variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052639	hsa-let-7a-5p	CLASH	23622248
MIRT685425	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT685424	hsa-miR-548n	HITS-CLIP	23313552
MIRT685423	hsa-miR-6732-3p	HITS-CLIP	23313552
MIRT685422	hsa-miR-562	HITS-CLIP	23313552
MIRT685421	hsa-miR-10a-5p	HITS-CLIP	23313552
MIRT685420	hsa-miR-10b-5p	HITS-CLIP	23313552
MIRT685419	hsa-miR-339-5p	HITS-CLIP	23313552
MIRT685418	hsa-miR-4421	HITS-CLIP	23313552
MIRT685417	hsa-miR-5699-3p	HITS-CLIP	23313552
MIRT685416	hsa-miR-6895-3p	HITS-CLIP	23313552
MIRT685415	hsa-miR-593-3p	HITS-CLIP	23313552
MIRT685414	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT685413	hsa-miR-6818-3p	HITS-CLIP	23313552
MIRT648984	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT648983	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT648982	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT648981	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT648979	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT648980	hsa-miR-1976	HITS-CLIP	23824327
MIRT648978	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT648977	hsa-miR-4486	HITS-CLIP	23824327
MIRT648976	hsa-miR-4252	HITS-CLIP	23824327
MIRT648975	hsa-miR-1254	HITS-CLIP	23824327
MIRT648974	hsa-miR-3116	HITS-CLIP	23824327
MIRT648973	hsa-miR-661	HITS-CLIP	23824327
MIRT648972	hsa-miR-1227-3p	HITS-CLIP	23824327
MIRT648971	hsa-miR-7703	HITS-CLIP	23824327
MIRT648970	hsa-miR-550b-2-5p	HITS-CLIP	23824327
MIRT685425	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT685424	hsa-miR-548n	HITS-CLIP	23313552
MIRT685423	hsa-miR-6732-3p	HITS-CLIP	23313552
MIRT685422	hsa-miR-562	HITS-CLIP	23313552
MIRT685421	hsa-miR-10a-5p	HITS-CLIP	23313552
MIRT685420	hsa-miR-10b-5p	HITS-CLIP	23313552
MIRT685419	hsa-miR-339-5p	HITS-CLIP	23313552
MIRT685418	hsa-miR-4421	HITS-CLIP	23313552
MIRT685417	hsa-miR-5699-3p	HITS-CLIP	23313552
MIRT685416	hsa-miR-6895-3p	HITS-CLIP	23313552
MIRT685415	hsa-miR-593-3p	HITS-CLIP	23313552
MIRT685414	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT685413	hsa-miR-6818-3p	HITS-CLIP	23313552
MIRT648984	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT648983	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT648982	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT648981	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT648979	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT648980	hsa-miR-1976	HITS-CLIP	23824327
MIRT648978	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT648977	hsa-miR-4486	HITS-CLIP	23824327
MIRT648976	hsa-miR-4252	HITS-CLIP	23824327
MIRT648975	hsa-miR-1254	HITS-CLIP	23824327
MIRT648974	hsa-miR-3116	HITS-CLIP	23824327
MIRT648973	hsa-miR-661	HITS-CLIP	23824327
MIRT648972	hsa-miR-1227-3p	HITS-CLIP	23824327
MIRT648971	hsa-miR-7703	HITS-CLIP	23824327
MIRT648970	hsa-miR-550b-2-5p	HITS-CLIP	23824327
MIRT761430	hsa-miR-129-3p	CLIP-seq
MIRT761431	hsa-miR-3613-3p	CLIP-seq
MIRT761432	hsa-miR-3973	CLIP-seq
MIRT761433	hsa-miR-4272	CLIP-seq
MIRT761434	hsa-miR-4690-3p	CLIP-seq
MIRT761435	hsa-miR-4780	CLIP-seq
MIRT761436	hsa-miR-4795-3p	CLIP-seq
MIRT761437	hsa-miR-4804-5p	CLIP-seq
MIRT761438	hsa-miR-520g	CLIP-seq
MIRT761439	hsa-miR-520h	CLIP-seq
MIRT1924514	hsa-miR-181a	CLIP-seq
MIRT1924515	hsa-miR-181b	CLIP-seq
MIRT1924516	hsa-miR-181c	CLIP-seq
MIRT1924517	hsa-miR-181d	CLIP-seq
MIRT1924518	hsa-miR-4257	CLIP-seq
MIRT1924519	hsa-miR-4262	CLIP-seq
MIRT2165750	hsa-miR-3665	CLIP-seq
MIRT2165751	hsa-miR-4266	CLIP-seq
MIRT2165752	hsa-miR-657	CLIP-seq
MIRT2468332	hsa-miR-1228	CLIP-seq
MIRT2468333	hsa-miR-1260	CLIP-seq
MIRT2468334	hsa-miR-1260b	CLIP-seq
MIRT2468335	hsa-miR-1324	CLIP-seq
MIRT2468336	hsa-miR-136	CLIP-seq
MIRT2468337	hsa-miR-1825	CLIP-seq
MIRT2468338	hsa-miR-188-3p	CLIP-seq
MIRT2468339	hsa-miR-199a-5p	CLIP-seq
MIRT2468340	hsa-miR-199b-5p	CLIP-seq
MIRT2468341	hsa-miR-2355-5p	CLIP-seq
MIRT2468342	hsa-miR-3121-5p	CLIP-seq
MIRT2468343	hsa-miR-3125	CLIP-seq
MIRT2468344	hsa-miR-3127-3p	CLIP-seq
MIRT2468345	hsa-miR-3156-3p	CLIP-seq
MIRT2468346	hsa-miR-3616-3p	CLIP-seq
MIRT2468347	hsa-miR-3679-3p	CLIP-seq
MIRT2468348	hsa-miR-3916	CLIP-seq
MIRT2468349	hsa-miR-3923	CLIP-seq
MIRT2468350	hsa-miR-4276	CLIP-seq
MIRT2468351	hsa-miR-4459	CLIP-seq
MIRT2468352	hsa-miR-4691-5p	CLIP-seq
MIRT2468353	hsa-miR-4711-5p	CLIP-seq
MIRT2468354	hsa-miR-4713-3p	CLIP-seq
MIRT2468355	hsa-miR-4761-3p	CLIP-seq
MIRT2468356	hsa-miR-4779	CLIP-seq
MIRT2468357	hsa-miR-628-3p	CLIP-seq
MIRT2468358	hsa-miR-873	CLIP-seq
MIRT2468359	hsa-miR-877	CLIP-seq
MIRT2468332	hsa-miR-1228	CLIP-seq
MIRT2468333	hsa-miR-1260	CLIP-seq
MIRT2468334	hsa-miR-1260b	CLIP-seq
MIRT2468335	hsa-miR-1324	CLIP-seq
MIRT2468336	hsa-miR-136	CLIP-seq
MIRT2468337	hsa-miR-1825	CLIP-seq
MIRT2468338	hsa-miR-188-3p	CLIP-seq
MIRT2468339	hsa-miR-199a-5p	CLIP-seq
MIRT2468340	hsa-miR-199b-5p	CLIP-seq
MIRT2468341	hsa-miR-2355-5p	CLIP-seq
MIRT2468342	hsa-miR-3121-5p	CLIP-seq
MIRT2468343	hsa-miR-3125	CLIP-seq
MIRT2468344	hsa-miR-3127-3p	CLIP-seq
MIRT2468345	hsa-miR-3156-3p	CLIP-seq
MIRT2468346	hsa-miR-3616-3p	CLIP-seq
MIRT2674209	hsa-miR-3662	CLIP-seq
MIRT2468347	hsa-miR-3679-3p	CLIP-seq
MIRT2468348	hsa-miR-3916	CLIP-seq
MIRT2468349	hsa-miR-3923	CLIP-seq
MIRT2468350	hsa-miR-4276	CLIP-seq
MIRT2468351	hsa-miR-4459	CLIP-seq
MIRT2468352	hsa-miR-4691-5p	CLIP-seq
MIRT2468353	hsa-miR-4711-5p	CLIP-seq
MIRT2468354	hsa-miR-4713-3p	CLIP-seq
MIRT2468355	hsa-miR-4761-3p	CLIP-seq
MIRT2468356	hsa-miR-4779	CLIP-seq
MIRT2468357	hsa-miR-628-3p	CLIP-seq
MIRT2468358	hsa-miR-873	CLIP-seq
MIRT2468359	hsa-miR-877	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003995	Function	Acyl-CoA dehydrogenase activity	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006574	Process	Valine catabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0009083	Process	Branched-chain amino acid catabolic process	TAS
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA

Other IDs

• MIM: 604773
• HGNC: 87
• e!Ensembl: ENSG00000151498

Protein

• UniProt ID: Q9UKU7
• Protein name: Isobutyryl-CoA dehydrogenase, mitochondrial (IBDH) (EC 1.3.8.5) (Activator-recruited cofactor 42 kDa component) (ARC42) (Acyl-CoA dehydrogenase family member 8) (ACAD-8)
• Protein function: Isobutyryl-CoA dehydrogenase which catalyzes the conversion of 2-methylpropanoyl-CoA to (2E)-2-methylpropenoyl-CoA in the valine catabolic pathway (PubMed:11013134, PubMed:12359132, PubMed:16857760). To a lesser extent, also able to catalyze the
• PDB: 1RX0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02771	Acyl-CoA_dh_N	42 → 153	Acyl-CoA dehydrogenase, N-terminal domain	Domain
  PF02770	Acyl-CoA_dh_M	157 → 251	Acyl-CoA dehydrogenase, middle domain	Domain
  PF00441	Acyl-CoA_dh_1	263 → 413	Acyl-CoA dehydrogenase, C-terminal domain	Domain

• Sequence:

  MLWSGCRRFGARLGCLPGGLRVLVQTGHRSLTSCIDPSMGLNEEQKEFQKVAFDFAAREM
  APNMAEWDQKELFPVDVMRKAAQLGFGGVYIQTDVGGSGLSRLDTSVIFEALATGCTSTT
  AYISIHNMCAWMIDSFGNEEQRHKFCPPLCTMEKFASYCLTEPGSGSDAASLLTSAKKQG
  DHYILNGSKAFISGAGESDIYVVMCRTGGPGPKGISCIVVEKGTPGLSFGKKEKKVGWNS
  QPTRAVIFEDCAVPVANRIGSEGQGFLIAVRGLNGGRINIASCSLGAAHASVILTRDHLN
  VRKQFGEPLASNQYLQFTLADMATRLVAARLMVRNAAVALQEERKDAVALCSMAKLFATD
  ECFAICNQALQMHGGYGYLKDYAVQQYVRDSRVHQILEGSNEVMRILISRSLLQE

• Sequence length: 415

Pathways

KEGG:

Valine, leucine and isoleucine degradation
Metabolic pathways

Reactome:

Branched-chain amino acid catabolism

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Cardiomyopathy	Cardiomyopathy, Dilated	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377, rs2856655, rs587776700, rs397514444, rs387906397, rs137854607, rs28935197, rs199473684, rs121964858, rs74315379, rs74315380, rs104894724, rs104894727, rs104894728, rs104894729, rs104894730, rs121917760, rs267607125, rs104894503, rs267607155, rs267607156, rs121918597, rs121918600, rs28933979, rs121918070, rs76992529, rs111033559, rs111033560, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs3218714, rs121913637, rs121913638, rs121913641, rs121913642, rs121913651, rs267606911, rs267606908, rs730880850, rs61046466, rs57520892, rs28933091, rs28933092, rs28933093, rs121913008, rs121913003, rs121912996, rs121912997, rs193922680, rs387906875, rs199474703, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922683, rs193922668, rs386134243, rs267607578, rs36211723, rs193922390, rs193922672, rs193922697, rs387907267, rs45546039, rs387907218, rs397515870, rs397515893, rs397515894, rs397515903, rs397515905, rs375882485, rs397515907, rs397515912, rs397515916, rs397515925, rs397515926, rs397515934, rs397515937, rs397515943, rs397515944, rs397515947, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515973, rs397515974, rs397515977, rs376395543, rs397515979, rs397515982, rs397515990, rs397515991, rs397515992, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs373746463, rs397516019, rs397516023, rs397516029, rs397516031, rs397516037, rs397516040, rs397516042, rs397516044, rs397516049, rs397516057, rs397516059, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs397516082, rs397516083, rs397516088, rs397516089, rs397516103, rs397516123, rs397516127, rs371898076, rs397516132, rs397516142, rs3218716, rs397516154, rs397516161, rs397516165, rs397516170, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516248, rs397516252, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516269, rs397516347, rs397516349, rs397516352, rs397516353, rs397516355, rs397516356, rs397516357, rs397516364, rs397516370, rs397516371, rs397516373, rs397516386, rs397516406, rs397516454, rs397516456, rs397516461, rs397516463, rs397516464, rs45525839, rs397516471, rs45578238, rs111377893, rs397516607, rs62636495, rs397516784, rs397516881, rs397516913, rs397516915, rs397516927, rs397516940, rs397516943, rs397516945, rs397516955, rs397516956, rs397516973, rs397516986, rs397516989, rs372827156, rs397516992, rs397516993, rs397516994, rs397516997, rs397517003, rs397517008, rs397517010, rs397517012, rs397517021, rs397517065, rs397517547, rs397517576, rs397517580, rs397517584, rs397517586, rs397517587, rs397517589, rs397517601, rs397517620, rs397517624, rs397517626, rs397517628, rs72646831, rs397517633, rs397517643, rs72646846, rs397517664, rs397517679, rs397517689, rs397517695, rs397517696, rs397517698, rs397517721, rs397517735, rs397517741, rs397517749, rs397517750, rs397517758, rs397517776, rs397517787, rs397517830, rs397517887, rs397517888, rs397517889, rs58013325, rs397517895, rs56984562, rs267607646, rs58917027, rs267607594, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397514742, rs886041395, rs397515482, rs267607490, rs58999456, rs267607555, rs61672878, rs267607618, rs267607577, rs57730570, rs267607582, rs267607581, rs61444459, rs59270054, rs61661343, rs267607570, rs59026483, rs267607571, rs59332535, rs199473161, rs398123262, rs869320740, rs606231324, rs587782927, rs201754030, rs58389804, rs587782958, rs587782961, rs587782962, rs587782986, rs138049878, rs376897125, rs368765949, rs111569862, rs727504247, rs727503537, rs727504535, rs727504550, rs727504679, rs727503546, rs730880365, rs727504646, rs727505014, rs727505288, rs727503557, rs727503559, rs730880343, rs727503615, rs727504825, rs727503565, rs727504655, rs727505352, rs727504466, rs727504531, rs727503567, rs371678190, rs727503586, rs727505319, rs727503547, rs727505076, rs727505224, rs727503552, rs727504856, rs727504782, rs727504660, rs557312035, rs727505284, rs727504851, rs727504589, rs727504499, rs727504843, rs727504452, rs727503697, rs150974575, rs727504498, rs727503598, rs727503602, rs727503607, rs727504801, rs727504738, rs727505115, rs727505283, rs727505109, rs727504271, rs727504321, rs727504289, rs727503172, rs727503180, rs727503182, rs727504265, rs727504334, rs727503192, rs397515932, rs727504287, rs200411226, rs727503204, rs727504269, rs367947846, rs730880335, rs727502897, rs727503166, rs111683277, rs727503195, rs727503203, rs727503212, rs727503738, rs727504381, rs727504356, rs727503261, rs727504238, rs148808089, rs45544633, rs727503246, rs397516171, rs727503253, rs202141173, rs727504310, rs727503258, rs727503260, rs727504320, rs727504240, rs727503263, rs727503269, rs727503278, rs727504432, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504379, rs727504389, rs727504275, rs727504557, rs727502994, rs727504184, rs730880336, rs730880362, rs730880199, rs730880246, rs72648265, rs730880243, rs730880242, rs730880241, rs574660186, rs730880245, rs730880082, rs730880092, rs730880093, rs730880055, rs397515939, rs730881119, rs397516020, rs730880675, rs730880719, rs730880672, rs730880671, rs730880718, rs730880666, rs730880717, rs730880655, rs730880715, rs730880654, rs730880714, rs730880651, rs730880648, rs730880713, rs730880546, rs730880695, rs730880533, rs730880531, rs730880639, rs730880689, rs730880686, rs730880629, rs368121566, rs375607980, rs730880704, rs730880698, rs730880750, rs730880748, rs730880875, rs730880845, rs1565623093, rs786204339, rs786204336, rs786204392, rs786204388, rs786204950, rs786204951, rs794727381, rs760576804, rs112188483, rs794728597, rs794728606, rs794728593, rs59564495, rs190140598, rs794728826, rs794728803, rs794728106, rs149701627, rs1554108152, rs770873593, rs794728124, rs141026028, rs794728094, rs794729098, rs794729116, rs764817683, rs751288871, rs201405287, rs794729137, rs794729133, rs766209297, rs767987619, rs769220833, rs794729120, rs112240298, rs748382770, rs794729365, rs794729301, rs757451467, rs794729359, rs794729354, rs794729353, rs794729285, rs794729284, rs794729338, rs794729332, rs368452607, rs794729278, rs794729325, rs794729324, rs754866489, rs794729265, rs751502842, rs794729320, rs794729380, rs748313513, rs797046064, rs863225113, rs863225106, rs761507504, rs864622224, rs1057515421, rs751039219, rs869025555, rs869025546, rs869025554, rs869025559, rs869025545, rs869025558, rs869025557, rs200797552, rs869025550, rs869025549, rs869025544, rs869025552, rs869025548, rs869025556, rs770029258, rs869025523, rs869025398, rs869025399, rs869025395, rs869025365, rs869025469, rs869025483, rs749838192, rs869312028, rs869312037, rs869312038, rs869312039, rs869312040, rs869312041, rs869312042, rs869312044, rs869312046, rs373040154, rs869312047, rs869312048, rs869312049, rs869312050, rs869312051, rs869312052, rs869312054, rs869312055, rs777602537, rs869312056, rs869312057, rs869312058, rs869312059, rs869312060, rs770038577, rs869312061, rs869312062, rs869312063, rs869312064, rs869312065, rs869312066, rs869312067, rs869312068, rs869312069, rs771562210, rs869312070, rs869312071, rs759231562, rs869312072, rs869312073, rs764243269, rs768345594, rs869312074, rs869312075, rs869312076, rs869312077, rs869312078, rs869312079, rs869312080, rs772121356, rs869312081, rs869312082, rs72648250, rs869312083, rs869312084, rs869312085, rs869312086, rs869312087, rs869312100, rs779129892, rs756367933, rs869312102, rs869312103, rs869312104, rs869312105, rs869312106, rs770767998, rs869312107, rs775186117, rs869312108, rs869312109, rs869312110, rs869312111, rs755261062, rs869312112, rs763824247, rs869312113, rs869312114, rs869312115, rs869312116, rs774604740, rs869312117, rs779996703, rs869312118, rs869312119, rs869312120, rs869312121, rs869312122, rs869312045, rs753948675, rs878854371, rs794728589, rs876657650, rs727503512, rs876658027, rs876657672, rs876657671, rs868494032, rs876657670, rs780512337, rs876657669, rs876657668, rs876657666, rs876657665, rs876657664, rs876657663, rs148894066, rs876657634, rs869248137, rs876657705, rs876657704, rs727503213, rs869025496, rs876657662, rs876657884, rs36211715, rs878855234, rs879255521, rs879255639, rs886038928, rs751746401, rs886039030, rs869038795, rs886039343, rs2069544, rs1114167341, rs1114167340, rs886041322, rs886042331, rs886043718, rs747662439, rs886043924, rs773840992, rs886044536, rs1057517903, rs754354190, rs779650200, rs902082118, rs1057518920, rs1057519457, rs1057523045, rs370072439, rs1064792916, rs1060500495, rs1060500575, rs926741242, rs774763657, rs746877365, rs1060500610, rs1060501484, rs1060501479, rs1064792928, rs1060501443, rs1060499604, rs1064793814, rs1064796347, rs977277400, rs1064793429, rs745811346, rs1064794350, rs1555142963, rs1064793983, rs769665204, rs751261054, rs769139957, rs1131691873, rs1131691655, rs1131691673, rs1464253797, rs1408345511, rs1553603152, rs1554398705, rs1322596650, rs1553539995, rs1553611989, rs749961489, rs1444727212, rs1243301263, rs971618751, rs1553662326, rs1389777522, rs764985774, rs1554108287, rs1554105911, rs1249913357, rs1554108012, rs111806457, rs1402879259, rs748416758, rs794727046, rs1425855043, rs869178171, rs1432810664, rs749465164, rs878898365, rs1419374180, rs770878165, rs1553503113, rs1553691320, rs1553577362, rs1553603456, rs1417036453, rs1553741321, rs1553479603, rs1553607425, rs974671846, rs1420159591, rs745688425, rs1554875409, rs1555144459, rs1555338080, rs1555338574, rs1555148035, rs200889953, rs1401116572, rs1285329277, rs974510652, rs1263987728, rs1555122928, rs992189342, rs1555142971, rs1553261855, rs1553265647, rs1553488049, rs1553644307, rs1553663867, rs1553940122, rs28763965, rs758891557, rs762110595, rs1555436118, rs1555435531, rs565910322, rs376766195, rs1562168768, rs763443331, rs1562169661, rs1370579526, rs1561703922, rs1564773559, rs1559003939, rs1559598775, rs1559415567, rs1559877046, rs776970935, rs553526525, rs1561698362, rs1561694696, rs1561702640, rs730880751, rs1060505018, rs766330686, rs1565631430, rs1565050320, rs876657767, rs1565053085, rs1565053147, rs1557778277, rs1557776329, rs886039136, rs771262904, rs727504314, rs1563000044, rs541612157, rs766265889, rs1558988204, rs1559051231, rs1559262463, rs1559448864, rs1559469421, rs1559556267, rs1559746821, rs1559873786, rs1561323791, rs1561445221, rs1561686893, rs1561698714, rs1561702549, rs1565623439, rs1565623713, rs1565626367, rs1565627110, rs1565627145, rs397515889, rs1565628520, rs774316050, rs1592798444, rs1565590309, rs1566967399, rs1569552936, rs1559712733, rs1561690319, rs1561701721, rs869125101, rs1595843553, rs1576018303, rs746115846, rs777315336, rs1431206462, rs1572358674, rs1477669354, rs1575584918, rs1575614351, rs72648222, rs1575799625, rs1576014673, rs1576147786, rs747469275, rs1581805658, rs1227662860, rs1585169831, rs1592729525, rs762753884, rs1596155145, rs1572358821, rs991187915, rs1575649368, rs1060500562, rs1450218521, rs775256998, rs1572332762, rs1571627006, rs1575253896, rs1575616801, rs1575775337, rs1575948935, rs1574083547, rs1574087037, rs1589632398, rs1585171818, rs1603365762, rs768079285, rs1575663327, rs1575796530, rs1574659116, rs267607001, rs1567093598, rs1572359848, rs1060500505, rs1575512482, rs1575872984, rs1161735211, rs1576141328, rs906494713, rs1576685753, rs1266489077, rs1581813564, rs778808038, rs397516363, rs1596386673, rs1575610911, rs727503266, rs1603377936, rs777702465, rs1708504899, rs2054381012, rs1575285509, rs1695435412, rs1699247877, rs879139686, rs2060187635, rs761380979, rs1464886350, rs1956192035, rs752522753, rs1205836993, rs2095894178
Gastric cancer	Hereditary Diffuse Gastric Cancer	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208	21364753

Unknown
Disease name	Disease term	dbSNP ID	References
Isobutyryl-coa dehydrogenase deficiency	Isobutyryl-CoA dehydrogenase deficiency		17304052, 16857760, 24635911, 25689098, 15505379, 12359132, 28053874, 21659959, 30253142
Pulmonary stenosis	Pulmonary Stenosis
Stomach neoplasms	Malignant neoplasm of stomach, Stomach Neoplasms		21364753