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
GO:0000062	Function	Fatty-acyl-CoA binding	IEA
GO:0003995	Function	Acyl-CoA dehydrogenase activity	IEA
GO:0004361	Function	Glutaryl-CoA dehydrogenase activity	IBA
GO:0004361	Function	Glutaryl-CoA dehydrogenase activity	IDA	8541831
GO:0004361	Function	Glutaryl-CoA dehydrogenase activity	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	8541831
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006568	Process	L-tryptophan metabolic process	IEA
GO:0006637	Process	Acyl-CoA metabolic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016627	Function	Oxidoreductase activity, acting on the CH-CH group of donors	IEA
GO:0019395	Process	Fatty acid oxidation	IEA
GO:0033539	Process	Fatty acid beta-oxidation using acyl-CoA dehydrogenase	IBA
GO:0033539	Process	Fatty acid beta-oxidation using acyl-CoA dehydrogenase	IDA	25416781
GO:0046949	Process	Fatty-acyl-CoA biosynthetic process	IBA
GO:0046949	Process	Fatty-acyl-CoA biosynthetic process	IEA
GO:0050660	Function	Flavin adenine dinucleotide binding	IBA
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA

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

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of metabolism/homeostasis	Likely pathogenic; Pathogenic	rs121434369	RCV001813936	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma	Likely pathogenic; Pathogenic	rs2145953759, rs1599619080	RCV005931538 RCV005906936	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GCDH-related disorder	Pathogenic; Likely pathogenic	rs121434372, rs147611168, rs776082304, rs141437721, rs377580992, rs754002357, rs576948027, rs1970564107	RCV004754233 RCV003398804 RCV003416053 RCV003955020 RCV003397531 RCV003420189 RCV003892753 RCV003963164	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glutaric acidaemia I newborn screening follow up	Likely pathogenic; Pathogenic	rs147611168, rs748275416	RCV005888427 RCV006257302	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glutaric aciduria, type 1	Likely pathogenic; Pathogenic	rs1970568682, rs1970723970, rs2145950047, rs2145954766, rs1970722328, rs1377352983, rs2145938175, rs1374072630, rs1254101861, rs1482995062, rs2145952877, rs398123190, rs372983141, rs2145955095, rs968628450, rs2145955299, rs758646992, rs765723076, rs1970564149, rs2145950197, rs142967670, rs372429120, rs1568428779, rs2145950460, rs746220312, rs767351827, rs2145954110, rs201714645, rs772549903, rs2145955176, rs2145953853, rs1160507620, rs398123192, rs1432619357, rs1970602621, rs2145954876, rs751287220, rs2145940591, rs747746632, rs754378464, rs2145950918, rs1034155331, rs2145951375, rs747920711, rs2145944277, rs1970675584, rs745852738, rs149120354, rs2512573365, rs121434366, rs121434367, rs121434371, rs121434368, rs121434369, rs121434370, rs121434372, rs121434373, rs147611168, rs2512574850, rs2512564970, rs1003611285, rs2512568101, rs2512573503, rs755054282, rs1568429421, rs2512577883, rs786204639, rs755586631, rs139851890, rs777201305, rs786204627, rs766518430, rs768925619, rs150938052, rs786204626, rs776082304, rs2512574982, rs786205862, rs786205861, rs141437721, rs199999619, rs1246987923, rs1333480915, rs2512577776, rs2512573372, rs2512572719, rs2512577314, rs956812784, rs2512564831, rs2512573674, rs1473339589, rs1555751109, rs2512567782, rs767433730, rs368357056, rs2512573580, rs869025300, rs869025299, rs2512573326, rs752127949, rs878853154, rs878853153, rs878853244, rs1177859298, rs1197426645, rs377580992, rs1405935475, rs2512567938, rs768836114, rs2145953759, rs1970719986, rs773310063, rs2512574792, rs2512577871, rs780437859, rs1555749369, rs2512563404, rs2512572809, rs2512564904, rs2512576260, rs2512563544, rs1436960118, rs2512577406, rs2512577344, rs2512576016, rs780441925, rs375357230, rs1970680774, rs2512577655, rs2145959018, rs2512563894, rs757139246, rs2512567826, rs758503371, rs2512577630, rs2512577720, rs2512565152, rs2512565797, rs2512574882, rs2512563918, rs200785120, rs1479265777, rs1237120625, rs2512572818, rs2512568075, rs754741320, rs2512577738, rs2512572865, rs2512573353, rs1057516939, rs1057516522, rs1006150317, rs1057517088, rs1057516521, rs898043081, rs752334462, rs1057516855, rs1057516715, rs749452002, rs1057516899, rs1057516344, rs761491320, rs1057517410, rs1057517407, rs778153326, rs754002357, rs200639270, rs779315456, rs566417795, rs1131692030, rs761765983, rs781477694, rs775606471, rs746388510, rs754312389, rs1025558859, rs748275416, rs1555749434, rs775103982, rs1555750535, rs1176799813, rs751583656, rs1230368107, rs1555749239, rs758137643, rs1555750542, rs794726972, rs764608975, rs745360675, rs1555751995, rs1273164833, rs1555749853, rs964724051, rs1555751240, rs933624223, rs1555749927, rs1555750580, rs1328059662, rs752234195, rs1555751089, rs1555751379, rs1008834111, rs1260580183, rs1568429137, rs771650894, rs1203022386, rs1568429257, rs1568427678, rs576948027, rs1599618968, rs1599619080, rs772654647, rs1599619180, rs1599616676, rs776758971, rs1970604182, rs1970608600, rs1173575355, rs1970675055, rs367699815, rs1864390545, rs1257292639, rs1970719648, rs745357523, rs1970693382, rs139192015, rs1970695925, rs1970718775, rs1970555406, rs747370741, rs1970682343, rs1970696255, rs768532620, rs1367214521, rs760155287, rs1252148225, rs1970564107, rs1302922191, rs976647697, rs1970671544, rs1970694961, rs1970707032, rs1970710230, rs1970720537, rs398123195, rs759838598	RCV001780244 RCV001329661 RCV001379086 RCV001377797 RCV001377483 RCV001377591 RCV001382112 RCV001382602 RCV001382601 RCV001387790 RCV001385538 RCV001385539 RCV001382324 RCV001390438 RCV001506972 RCV001553737 RCV001832767 RCV001730140 RCV001806292 RCV001897270 RCV001990342 RCV002036813 RCV001941701 RCV001945339 RCV001953810 RCV002036913 RCV002017219 RCV002012007 RCV001869903 RCV002022187 RCV002038289 RCV001942078 RCV001942026 RCV002040761 RCV001957618 RCV001961651 RCV001907613 RCV001953629 RCV001963145 RCV001966702 RCV001956566 RCV001895197 RCV001890736 RCV001890759 RCV003093945 RCV002249052 RCV002250009 RCV002272778 RCV002284000 RCV003464435 RCV000002162 RCV000002163 RCV000002164 RCV000002165 RCV000002166 RCV000002167 RCV000002169 RCV000002170 RCV000173984 RCV002310056 RCV002310081 RCV003050529 RCV003064557 RCV003064559 RCV003064561 RCV003041360 RCV003041361 RCV000169574 RCV000169420 RCV000169460 RCV000169288 RCV000169118 RCV000169399 RCV000169226 RCV000169320 RCV000169204 RCV000169398 RCV000169467 RCV003051364 RCV000171558 RCV000171557 RCV003076183 RCV000173982 RCV000173983 RCV000174223 RCV000179723 RCV002686034 RCV002741180 RCV002796465 RCV002796534 RCV002843888 RCV002875995 RCV002847202 RCV002872645 RCV002942168 RCV003021570 RCV003021571 RCV003026050 RCV002991761 RCV003031954 RCV003057839 RCV000207382 RCV000207408 RCV003466004 RCV000778541 RCV000224360 RCV000224005 RCV000225074 RCV003145819 RCV003324309 RCV005029983 RCV003603160 RCV003461676 RCV003461677 RCV003461678 RCV003461679 RCV003461680 RCV003468261 RCV003468262 RCV003461681 RCV003461682 RCV003461683 RCV003468263 RCV003468264 RCV003461684 RCV003461685 RCV003468265 RCV003468266 RCV003498855 RCV003499189 RCV003499208 RCV003499271 RCV003499878 RCV003497352 RCV003497353 RCV003497355 RCV003497356 RCV003497357 RCV003497358 RCV003498743 RCV003499499 RCV003603341 RCV003603234 RCV003603235 RCV003603443 RCV003604464 RCV003604992 RCV003602549 RCV003602591 RCV003602606 RCV003603751 RCV003603772 RCV003603546 RCV003603992 RCV003821067 RCV003838014 RCV003835110 RCV003873989 RCV003989055 RCV004018211 RCV004527511 RCV004527529 RCV000409365 RCV000410524 RCV000412281 RCV000409879 RCV000409366 RCV000410967 RCV000412155 RCV000409274 RCV000412140 RCV000412058 RCV000409563 RCV000410473 RCV000411040 RCV000410398 RCV000410275 RCV000412413 RCV000411911 RCV000410057 RCV000674290 RCV000553882 RCV000671835 RCV001043306 RCV000675080 RCV000668340 RCV000587206 RCV000670238 RCV000495869 RCV000531618 RCV000530261 RCV000533495 RCV000551437 RCV000586688 RCV000587156 RCV000588698 RCV000625783 RCV000634888 RCV000634890 RCV000634889 RCV000634886 RCV000634887 RCV000634885 RCV000666241 RCV000668267 RCV000665639 RCV000668794 RCV000670206 RCV000665541 RCV000672731 RCV000671613 RCV000672676 RCV000668317 RCV000669106 RCV000673919 RCV000672866 RCV000665561 RCV000673679 RCV000665802 RCV000667870 RCV000673771 RCV000674107 RCV000672203 RCV000671039 RCV000674219 RCV000670161 RCV000671046 RCV000670197 RCV000671412 RCV000667393 RCV000700730 RCV000705476 RCV000696441 RCV000697955 RCV000767352 RCV000767355 RCV000767354 RCV000785883 RCV000818955 RCV000816822 RCV000817710 RCV000852302 RCV000990157 RCV000990158 RCV001004412 RCV001066989 RCV001070239 RCV001058595 RCV001057307 RCV001054587 RCV001060570 RCV001062215 RCV001066990 RCV001066080 RCV001047255 RCV001054157 RCV001223617 RCV001214424 RCV001222475 RCV001214878 RCV001214210 RCV001224580 RCV001212983 RCV001231330 RCV001238237 RCV001228058 RCV001231954 RCV001245375 RCV001238126 RCV001255208 RCV001264318 RCV001264319 RCV001264320 RCV001264321 RCV001264322 RCV001264323 RCV001264324 RCV001264325 RCV001280840 RCV000180102 RCV001309614	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypomyelinating leukodystrophy 2	Pathogenic	rs752127949	RCV002222454	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary ciliary dyskinesia 29	Likely pathogenic; Pathogenic	rs121434369	RCV003447469	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tyrosinemia type III	Likely pathogenic; Pathogenic	rs1176799813	RCV004544826	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Elevated circulating glutaric acid concentration	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKODYSTROPHY, HYPOMYELINATING, 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYROSINEMIA, TYPE III	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Avellino corneal dystrophy	Avellino Corneal Dystrophy	BEFREE	18615204, 19497990		★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	29251778		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25450519		★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	BEFREE	20664689		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	29458885	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	10960496, 15318278		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	36445406, 9881681	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	10960496, 15318278, 21912879		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	33669532	Associate	★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	22203331		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Glutaryl-CoA dehydrogenase deficiency	Glutaryl-CoA Dehydrogenase Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	10960496, 15318278, 30203563		★☆☆☆☆ Found in Text Mining only
Ketonuria	Ketonuria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lattice corneal dystrophy Type I	Lattice corneal dystrophy	BEFREE	29524512		★☆☆☆☆ Found in Text Mining only
Little`s Disease	Spastic diplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	29251778		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	36050469	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Diseases	Metabolic Diseases	BEFREE	21176883		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	29458885		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	29458885	Associate	★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis III	Mucopolysaccharidosis	Pubtator	31952437	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	15505395		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Symmetrical progressive peripheral demyelination	Peripheral demyelination	HPO_DG			★☆☆☆☆ Found in Text Mining only