GCDH (glutaryl-CoA dehydrogenase)

Gene

• Entrez ID: 2639
• Gene name: Glutaryl-CoA dehydrogenase
• Gene symbol: GCDH
• Synonyms (NCBI Gene): ACAD5, GCD
• Chromosome: 19
• Chromosome location: 19p13.13
• Summary: The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It us

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs75430014	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs121434366	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121434370	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121434371	G>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121434373	G>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs139851890	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs141456457	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs142967670	C>A,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs146682905	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs149120354	T>C	Likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs200639270	G>A	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs368357056	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs398123194	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs398123195	G>A	Likely-pathogenic, pathogenic	Intron variant, splice acceptor variant
rs566417795	G>A,T	Likely-pathogenic	Intron variant, non coding transcript variant, missense variant, coding sequence variant
rs576948027	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs745852738	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs748275416	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs749452002	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs751583656	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs751742575	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs752334462	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs754312389	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs755586631	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs756345321	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs758137643	G>A,T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, intron variant, stop gained
rs758503371	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs761491320	T>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs761765983	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs764774411	G>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs766518430	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs768836114	T>A,G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs768925619	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs771650894	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs775103982	CCAGGATC>-	Likely-pathogenic	Intron variant, splice acceptor variant, coding sequence variant, non coding transcript variant
rs775606471	G>A,C,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs777201305	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs779315456	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs781477694	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs786204627	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs786204639	G>A	Likely-pathogenic, pathogenic	Splice donor variant
rs786205861	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs786205862	G>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs794726972	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs869025299	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs869025300	->CTATGATCATC	Pathogenic	Inframe indel, stop gained, coding sequence variant, non coding transcript variant
rs878853153	C>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs878853154	A>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs878853244	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886043840	C>T	Pathogenic-likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs898043081	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs952356983	G>A,T	Pathogenic-likely-pathogenic, pathogenic	Intron variant
rs964724051	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs1006150317	G>T	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1008834111	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057516344	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057516521	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057516522	CG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057516715	G>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1057516855	GTGAGTGG>-	Likely-pathogenic	Splice donor variant, coding sequence variant, intron variant, non coding transcript variant
rs1057516899	TTGT>-	Likely-pathogenic	Coding sequence variant, stop gained, intron variant, non coding transcript variant
rs1057516939	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057517088	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057517407	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057517410	A>G	Likely-pathogenic	Splice acceptor variant
rs1131691319	G>A	Likely-pathogenic	Intron variant
rs1131692030	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs1176799813	A>G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs1197426645	A>C,G	Likely-pathogenic	Non coding transcript variant, initiator codon variant, missense variant
rs1203022386	G>A,C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1230368107	G>A,C	Likely-pathogenic	Initiator codon variant, missense variant, non coding transcript variant
rs1260580183	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1273164833	G>A	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs1294124984	A>G	Pathogenic	Intron variant, coding sequence variant, missense variant, non coding transcript variant
rs1555749239	G>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555749369	A>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs1555749434	TCAA>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1555749853	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555750535	CAGGATC>-	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, splice acceptor variant
rs1555750542	->TCGC	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1555750580	->CGGG	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555751089	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555751109	G>T	Likely-pathogenic	Splice donor variant
rs1568427678	G>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1599614265	GGAAGTGACCCCAGCAGC>-	Pathogenic	Non coding transcript variant, coding sequence variant, inframe deletion
rs1599616676	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT462468	hsa-miR-4640-3p	PAR-CLIP	23592263
MIRT462466	hsa-miR-1321	PAR-CLIP	23592263
MIRT462467	hsa-miR-4739	PAR-CLIP	23592263
MIRT462465	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT462464	hsa-miR-6871-5p	PAR-CLIP	23592263
MIRT462463	hsa-miR-361-3p	PAR-CLIP	23592263
MIRT462462	hsa-miR-4419a	PAR-CLIP	23592263
MIRT462461	hsa-miR-4510	PAR-CLIP	23592263
MIRT462460	hsa-miR-6127	PAR-CLIP	23592263
MIRT462459	hsa-miR-6129	PAR-CLIP	23592263
MIRT462458	hsa-miR-6130	PAR-CLIP	23592263
MIRT462457	hsa-miR-6133	PAR-CLIP	23592263
MIRT462456	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT462455	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT462454	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT462453	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT462452	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT462451	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT462450	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT462449	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT462448	hsa-miR-6798-3p	PAR-CLIP	23592263
MIRT462446	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT462447	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT462445	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT462444	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT462443	hsa-miR-3689c	PAR-CLIP	23592263
MIRT462442	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT462441	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT462468	hsa-miR-4640-3p	PAR-CLIP	23592263
MIRT462466	hsa-miR-1321	PAR-CLIP	23592263
MIRT462467	hsa-miR-4739	PAR-CLIP	23592263
MIRT462465	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT462464	hsa-miR-6871-5p	PAR-CLIP	23592263
MIRT462463	hsa-miR-361-3p	PAR-CLIP	23592263
MIRT462462	hsa-miR-4419a	PAR-CLIP	23592263
MIRT462461	hsa-miR-4510	PAR-CLIP	23592263
MIRT462460	hsa-miR-6127	PAR-CLIP	23592263
MIRT462459	hsa-miR-6129	PAR-CLIP	23592263
MIRT462458	hsa-miR-6130	PAR-CLIP	23592263
MIRT462457	hsa-miR-6133	PAR-CLIP	23592263
MIRT462456	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT462455	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT462454	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT462453	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT462452	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT462451	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT462450	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT462449	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT462448	hsa-miR-6798-3p	PAR-CLIP	23592263
MIRT462446	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT462447	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT462445	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT462444	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT462443	hsa-miR-3689c	PAR-CLIP	23592263
MIRT462442	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT462441	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT1014495	hsa-miR-3145-3p	CLIP-seq
MIRT1014496	hsa-miR-3154	CLIP-seq
MIRT1014497	hsa-miR-3925-3p	CLIP-seq
MIRT1014498	hsa-miR-4693-3p	CLIP-seq
MIRT1014499	hsa-miR-766	CLIP-seq
MIRT1014500	hsa-miR-103a	CLIP-seq
MIRT1014501	hsa-miR-107	CLIP-seq
MIRT1014502	hsa-miR-1184	CLIP-seq
MIRT1014503	hsa-miR-1207-3p	CLIP-seq
MIRT1014504	hsa-miR-1294	CLIP-seq
MIRT1014505	hsa-miR-3184	CLIP-seq
MIRT1014506	hsa-miR-423-5p	CLIP-seq
MIRT1014507	hsa-miR-4302	CLIP-seq
MIRT1014508	hsa-miR-4316	CLIP-seq
MIRT1014509	hsa-miR-4680-5p	CLIP-seq
MIRT1014510	hsa-miR-922	CLIP-seq
MIRT1014500	hsa-miR-103a	CLIP-seq
MIRT1014501	hsa-miR-107	CLIP-seq
MIRT1014502	hsa-miR-1184	CLIP-seq
MIRT1014503	hsa-miR-1207-3p	CLIP-seq
MIRT2000427	hsa-miR-767-3p	CLIP-seq
MIRT1014510	hsa-miR-922	CLIP-seq
MIRT2450141	hsa-miR-1238	CLIP-seq
MIRT2450142	hsa-miR-3183	CLIP-seq
MIRT2450143	hsa-miR-4287	CLIP-seq
MIRT2450144	hsa-miR-4469	CLIP-seq
MIRT2450145	hsa-miR-4639-3p	CLIP-seq
MIRT2450146	hsa-miR-4685-3p	CLIP-seq
MIRT2450147	hsa-miR-4723-3p	CLIP-seq
MIRT1014498	hsa-miR-4693-3p	CLIP-seq
MIRT2681471	hsa-miR-338-3p	CLIP-seq
MIRT2450145	hsa-miR-4639-3p	CLIP-seq
MIRT1014498	hsa-miR-4693-3p	CLIP-seq
MIRT2000427	hsa-miR-767-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000062	Function	Fatty-acyl-CoA binding	IBA	21873635
GO:0004361	Function	Glutaryl-CoA dehydrogenase activity	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006554	Process	Lysine catabolic process	TAS
GO:0006568	Process	Tryptophan metabolic process	IEA
GO:0033539	Process	Fatty acid beta-oxidation using acyl-CoA dehydrogenase	IBA	21873635
GO:0033539	Process	Fatty acid beta-oxidation using acyl-CoA dehydrogenase	IDA	25416781
GO:0046949	Process	Fatty-acyl-CoA biosynthetic process	IBA	21873635
GO:0050660	Function	Flavin adenine dinucleotide binding	IBA	21873635

Other IDs

• MIM: 608801
• HGNC: 4189
• e!Ensembl: ENSG00000105607

Protein

• UniProt ID: Q92947
• Protein name: Glutaryl-CoA dehydrogenase, mitochondrial (GCD) (EC 1.3.8.6)
• Protein function: Catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. Isoform Shor
• PDB: 1SIQ, 1SIR, 2R0M, 2R0N
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02771	Acyl-CoA_dh_N	61 → 172	Acyl-CoA dehydrogenase, N-terminal domain	Domain
  PF02770	Acyl-CoA_dh_M	176 → 269	Acyl-CoA dehydrogenase, middle domain	Domain
  PF00441	Acyl-CoA_dh_1	287 → 429	Acyl-CoA dehydrogenase, C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform Long and isoform Short are expressed in fibroblasts and liver.
• Sequence:

  MALRGVSVRLLSRGPGLHVLRTWVSSAAQTEKGGRTQSQLAKSSRPEFDWQDPLVLEEQL
  TTDEILIRDTFRTYCQERLMPRILLANRNEVFHREIISEMGELGVLGPTIKGYGCAGVSS
  VAYGLLARELERVDSGYRSAMSVQSSLVMHPIYAYGSEEQRQKYLPQLAKGELLGCFGLT
  EPNSGSDPSSMETRAHYNSSNKSYTLNGTKTWITNSPMADLFVVWARCEDGCIRGFLLEK
  GMRGLSAPRIQGKFSLRASATGMIIMDGVEVPEENVLPGASSLGGPFGCLNNARYGIAWG
  VLGASEFCLHTARQYALDRMQFGVPLARNQLIQKKLADMLTEITLGLHACLQLGRLKDQD
  KAAPEMVSLLKRNNCGKALDIARQARDMLGGNGISDEYHVIRHAMNLEAVNTYEGTHDIH
  ALILGRAITGIQAFTASK

• Sequence length: 438

Pathways

KEGG:

Fatty acid degradation
Lysine degradation
Tryptophan metabolism
Metabolic pathways

Reactome:

Lysine catabolism

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
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
Developmental regression	Developmental regression	rs1224421127
Epileptic encephalopathy	Encephalopathies	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325
Spastic diplegia	Little`s Disease	rs672601336
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Migraine	Migraine Disorders	rs794727411

Unknown
Disease term	Disease name	Evidence	References	Source
Diabetes	Diabetes			GWAS
Insomnia	Insomnia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Deglutition Disorders	Associate	29458885
Dystonia	Associate	36445406, 9881681
Fatigue Syndrome Chronic	Associate	33669532
Glutaric Acidemia I	Associate	10699052, 11024031, 18926513, 24498361, 29458885, 31952437, 32992790, 34344405, 34517439, 36445406, 36947993, 37496092, 37685964, 38137040, 8900227, 8900228, 9881681
Heredodegenerative Disorders Nervous System	Associate	11024031
Lymphoma Non Hodgkin	Associate	37496092
Megalencephaly	Associate	29458885
Melanoma	Associate	36050469
Microphthalmia Syndromic 10	Associate	29458885
Movement Disorders	Associate	29458885
Mucopolysaccharidosis III	Associate	31952437
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Associate	18926513
Muscle Hypotonia	Associate	29458885
Muscle Spasticity	Associate	29458885
Nerve Degeneration	Associate	29458885
Systemic carnitine deficiency	Associate	34344405