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

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	790
Gene name	Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
Gene symbol	CAD
Synonyms (NCBI Gene)	CDG1ZDEE50EIEE50GATD4
Chromosome	2
Chromosome location	2p23.3
Summary	The de novo synthesis of pyrimidine nucleotides is required for mammalian cells to proliferate. This gene encodes a trifunctional protein which is associated with the enzymatic activities of the first 3 enzymes in the 6-step pathway of pyrimidine biosynth

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SNP ID	Visualize variation	Clinical significance	Consequence
rs62130681	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs139332887	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs202227357	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs751610198	T>G	Pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs763410987	G>A	Pathogenic	Coding sequence variant, missense variant
rs769567624	G>A	Pathogenic	Intron variant, splice acceptor variant
rs1019263242	TTCTCCAAGGCCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057519262	C>T	Likely-pathogenic	Intron variant
rs1085307810	GACA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572423883	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1572426165	TG>-	Likely-pathogenic	Coding sequence variant, upstream transcript variant, frameshift variant, genic upstream transcript variant

114

Show/Hide all (114)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023598	hsa-miR-1-3p	Proteomics	18668040
MIRT025309	hsa-miR-34a-5p	Proteomics	21566225
MIRT028960	hsa-miR-26b-5p	Microarray	19088304
MIRT049353	hsa-miR-92a-3p	CLASH	23622248
MIRT045293	hsa-miR-186-5p	CLASH	23622248
MIRT044218	hsa-miR-301a-3p	CLASH	23622248
MIRT043489	hsa-miR-331-3p	CLASH	23622248
MIRT040681	hsa-miR-92b-3p	CLASH	23622248
MIRT037941	hsa-miR-505-5p	CLASH	23622248
MIRT037941	hsa-miR-505-5p	CLASH	23622248
MIRT037845	hsa-miR-455-3p	CLASH	23622248
MIRT052821	hsa-miR-3200-3p	CLASH	23622248
MIRT484459	hsa-miR-3200-5p	PAR-CLIP	23592263
MIRT484458	hsa-miR-6872-3p	PAR-CLIP	23592263
MIRT484457	hsa-miR-4649-3p	PAR-CLIP	23592263
MIRT484456	hsa-miR-7162-3p	PAR-CLIP	23592263
MIRT484454	hsa-miR-5008-5p	PAR-CLIP	23592263
MIRT484455	hsa-miR-6089	PAR-CLIP	23592263
MIRT484453	hsa-miR-4758-3p	PAR-CLIP	23592263
MIRT484452	hsa-miR-874-5p	PAR-CLIP	23592263
MIRT480212	hsa-miR-4426	PAR-CLIP	23592263
MIRT480211	hsa-miR-4647	PAR-CLIP	23592263
MIRT480210	hsa-miR-4662b	PAR-CLIP	23592263
MIRT480209	hsa-miR-18a-5p	PAR-CLIP	23592263
MIRT480208	hsa-miR-18b-5p	PAR-CLIP	23592263
MIRT480207	hsa-miR-4735-3p	PAR-CLIP	23592263
MIRT480206	hsa-miR-552-3p	PAR-CLIP	23592263
MIRT480204	hsa-miR-4463	PAR-CLIP	23592263
MIRT480205	hsa-miR-3675-5p	PAR-CLIP	23592263
MIRT480203	hsa-miR-4494	PAR-CLIP	23592263
MIRT480202	hsa-miR-4699-5p	PAR-CLIP	23592263
MIRT480201	hsa-miR-4771	PAR-CLIP	23592263
MIRT480200	hsa-miR-873-5p	PAR-CLIP	23592263
MIRT480199	hsa-miR-1286	PAR-CLIP	23592263
MIRT480198	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT480197	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT480196	hsa-miR-943	PAR-CLIP	23592263
MIRT480195	hsa-let-7a-2-3p	PAR-CLIP	23592263
MIRT480194	hsa-let-7g-3p	PAR-CLIP	23592263
MIRT480193	hsa-miR-4477b	PAR-CLIP	23592263
MIRT480192	hsa-miR-7856-5p	PAR-CLIP	23592263
MIRT037845	hsa-miR-455-3p	PAR-CLIP	27292025
MIRT049353	hsa-miR-92a-3p	PAR-CLIP	27292025
MIRT040681	hsa-miR-92b-3p	PAR-CLIP	27292025
MIRT484459	hsa-miR-3200-5p	PAR-CLIP	23592263
MIRT484458	hsa-miR-6872-3p	PAR-CLIP	23592263
MIRT484457	hsa-miR-4649-3p	PAR-CLIP	23592263
MIRT484456	hsa-miR-7162-3p	PAR-CLIP	23592263
MIRT484454	hsa-miR-5008-5p	PAR-CLIP	23592263
MIRT484455	hsa-miR-6089	PAR-CLIP	23592263
MIRT484453	hsa-miR-4758-3p	PAR-CLIP	23592263
MIRT484452	hsa-miR-874-5p	PAR-CLIP	23592263
MIRT480212	hsa-miR-4426	PAR-CLIP	23592263
MIRT480211	hsa-miR-4647	PAR-CLIP	23592263
MIRT480210	hsa-miR-4662b	PAR-CLIP	23592263
MIRT480209	hsa-miR-18a-5p	PAR-CLIP	23592263
MIRT480208	hsa-miR-18b-5p	PAR-CLIP	23592263
MIRT480207	hsa-miR-4735-3p	PAR-CLIP	23592263
MIRT480206	hsa-miR-552-3p	PAR-CLIP	23592263
MIRT480204	hsa-miR-4463	PAR-CLIP	23592263
MIRT480205	hsa-miR-3675-5p	PAR-CLIP	23592263
MIRT480203	hsa-miR-4494	PAR-CLIP	23592263
MIRT480202	hsa-miR-4699-5p	PAR-CLIP	23592263
MIRT480201	hsa-miR-4771	PAR-CLIP	23592263
MIRT480200	hsa-miR-873-5p	PAR-CLIP	23592263
MIRT480199	hsa-miR-1286	PAR-CLIP	23592263
MIRT480198	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT480197	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT480196	hsa-miR-943	PAR-CLIP	23592263
MIRT480195	hsa-let-7a-2-3p	PAR-CLIP	23592263
MIRT480194	hsa-let-7g-3p	PAR-CLIP	23592263
MIRT480193	hsa-miR-4477b	PAR-CLIP	23592263
MIRT480192	hsa-miR-7856-5p	PAR-CLIP	23592263
MIRT858432	hsa-miR-1207-3p	CLIP-seq
MIRT858433	hsa-miR-18a	CLIP-seq
MIRT858434	hsa-miR-18b	CLIP-seq
MIRT858435	hsa-miR-1913	CLIP-seq
MIRT858436	hsa-miR-2861	CLIP-seq
MIRT858437	hsa-miR-296-5p	CLIP-seq
MIRT858438	hsa-miR-324-3p	CLIP-seq
MIRT858439	hsa-miR-338-3p	CLIP-seq
MIRT858440	hsa-miR-3612	CLIP-seq
MIRT858441	hsa-miR-4266	CLIP-seq
MIRT858442	hsa-miR-4313	CLIP-seq
MIRT858443	hsa-miR-4530	CLIP-seq
MIRT858444	hsa-miR-4695-5p	CLIP-seq
MIRT858445	hsa-miR-4779	CLIP-seq
MIRT858446	hsa-miR-502-5p	CLIP-seq
MIRT858447	hsa-miR-552	CLIP-seq
MIRT858448	hsa-miR-595	CLIP-seq
MIRT858449	hsa-miR-646	CLIP-seq
MIRT858450	hsa-miR-648	CLIP-seq
MIRT858451	hsa-miR-650	CLIP-seq
MIRT1954935	hsa-miR-198	CLIP-seq
MIRT858439	hsa-miR-338-3p	CLIP-seq
MIRT1954936	hsa-miR-3616-5p	CLIP-seq
MIRT1954937	hsa-miR-3647-5p	CLIP-seq
MIRT1954938	hsa-miR-3662	CLIP-seq
MIRT1954939	hsa-miR-3925-3p	CLIP-seq
MIRT1954940	hsa-miR-4293	CLIP-seq
MIRT1954941	hsa-miR-4795-5p	CLIP-seq
MIRT1954942	hsa-miR-520a-5p	CLIP-seq
MIRT1954943	hsa-miR-525-5p	CLIP-seq
MIRT1954944	hsa-miR-573	CLIP-seq
MIRT858448	hsa-miR-595	CLIP-seq
MIRT2192528	hsa-miR-3065-3p	CLIP-seq
MIRT2192529	hsa-miR-3126-3p	CLIP-seq
MIRT2192530	hsa-miR-3607-5p	CLIP-seq
MIRT1954936	hsa-miR-3616-5p	CLIP-seq
MIRT1954937	hsa-miR-3647-5p	CLIP-seq
MIRT1954941	hsa-miR-4795-5p	CLIP-seq
MIRT1954944	hsa-miR-573	CLIP-seq
MIRT858448	hsa-miR-595	CLIP-seq
MIRT2192531	hsa-miR-610	CLIP-seq

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Transcription factor	Regulation	Reference
HDAC2	Unknown	14559996
MYC	Unknown	10931841;17706770
SMARCA4	Unknown	14559996

Show/Hide all (80)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001889	Process	Liver development	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004070	Function	Aspartate carbamoyltransferase activity	IBA
GO:0004070	Function	Aspartate carbamoyltransferase activity	IEA
GO:0004070	Function	Aspartate carbamoyltransferase activity	ISS
GO:0004087	Function	Carbamoyl-phosphate synthase (ammonia) activity	IEA
GO:0004088	Function	Carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity	IBA
GO:0004088	Function	Carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity	IEA
GO:0004088	Function	Carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity	ISS
GO:0004151	Function	Dihydroorotase activity	IBA
GO:0004151	Function	Dihydroorotase activity	IDA	24332717
GO:0004151	Function	Dihydroorotase activity	IEA
GO:0004151	Function	Dihydroorotase activity	ISS
GO:0004359	Function	Glutaminase activity	IEA
GO:0004672	Function	Protein kinase activity	ISS
GO:0005515	Function	Protein binding	IPI	15161933, 35271311, 35709258
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	ISS
GO:0005634	Component	Nucleus	IDA	15890648
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	15890648
GO:0005829	Component	Cytosol	TAS
GO:0006207	Process	'de novo' pyrimidine nucleobase biosynthetic process	IBA
GO:0006207	Process	'de novo' pyrimidine nucleobase biosynthetic process	IDA	24332717
GO:0006207	Process	'de novo' pyrimidine nucleobase biosynthetic process	IEA
GO:0006207	Process	'de novo' pyrimidine nucleobase biosynthetic process	ISS
GO:0006221	Process	Pyrimidine nucleotide biosynthetic process	IEA
GO:0006225	Process	UDP biosynthetic process	IDA	25678555
GO:0006228	Process	UTP biosynthetic process	IEA
GO:0006520	Process	Amino acid metabolic process	IEA
GO:0006541	Process	Glutamine metabolic process	IBA
GO:0006541	Process	Glutamine metabolic process	IEA
GO:0006541	Process	Glutamine metabolic process	ISS
GO:0006796	Process	Phosphate-containing compound metabolic process	IEA
GO:0006805	Process	Xenobiotic metabolic process	IEA
GO:0007507	Process	Heart development	IEA
GO:0007565	Process	Female pregnancy	IEA
GO:0007595	Process	Lactation	IEA
GO:0008270	Function	Zinc ion binding	IDA	24332717
GO:0014075	Process	Response to amine	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016363	Component	Nuclear matrix	IDA	9525610
GO:0016597	Function	Amino acid binding	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016743	Function	Carboxyl- or carbamoyltransferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016810	Function	Hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds	IEA
GO:0016812	Function	Hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	IEA
GO:0016874	Function	Ligase activity	IEA
GO:0019240	Process	Citrulline biosynthetic process	IEA
GO:0019899	Function	Enzyme binding	IPI	15326225
GO:0031000	Process	Response to caffeine	IEA
GO:0031100	Process	Animal organ regeneration	IEA
GO:0032868	Process	Response to insulin	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0033574	Process	Response to testosterone	IEA
GO:0042594	Process	Response to starvation	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	24332717
GO:0042802	Function	Identical protein binding	ISS
GO:0042995	Component	Cell projection	IEA
GO:0042995	Component	Cell projection	ISS
GO:0043025	Component	Neuronal cell body	IEA
GO:0043025	Component	Neuronal cell body	ISS
GO:0043195	Component	Terminal bouton	IEA
GO:0043195	Component	Terminal bouton	ISS
GO:0044205	Process	'de novo' UMP biosynthetic process	IDA	25678555
GO:0044205	Process	'de novo' UMP biosynthetic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051414	Process	Response to cortisol	IEA
GO:0055086	Process	Nucleobase-containing small molecule metabolic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0070335	Function	Aspartate binding	ISS
GO:0071364	Process	Cellular response to epidermal growth factor stimulus	IEA
GO:0071466	Process	Cellular response to xenobiotic stimulus	IEA
GO:0072528	Process	Pyrimidine-containing compound biosynthetic process	IEA

MIM	HGNC	e!Ensembl
114010	1424	ENSG00000084774

P27708

Protein name

Multifunctional protein CAD (Carbamoyl phosphate synthetase 2-aspartate transcarbamylase-dihydroorotase) [Includes: Glutamine-dependent carbamoyl phosphate synthase (EC 6.3.5.5); Glutamine amidotransferase (GATase) (GLNase) (EC 3.5.1.2); Ammonium-dependen

Protein function

Multifunctional protein that encodes the first 3 enzymatic activities of the de novo pyrimidine pathway: carbamoylphosphate synthetase (CPSase; EC 6.3.5.5), aspartate transcarbamylase (ATCase; EC 2.1.3.2) and dihydroorotase (DHOase; EC 3.5.2.3).

PDB

4BY3 , 4C6B , 4C6C , 4C6D , 4C6E , 4C6F , 4C6I , 4C6J , 4C6K , 4C6L , 4C6M , 4C6N , 4C6O , 4C6P , 4C6Q , 5G1N , 5G1O , 5G1P , 5YNZ , 6HFD , 6HFE , 6HFF , 6HFH , 6HFI , 6HFJ , 6HFK , 6HFL , 6HFN , 6HFP , 6HFQ , 6HFR , 6HFS , 6HFU , 6HG1 , 8GVZ , 8GW0 , 8PBE , 8PBG , 8PBH , 8PBI , 8PBJ , 8PBK , 8PBM , 8PBN , 8PBP , 8PBQ , 8PBR , 8PBS , 8PBT , 8PBU , 9FS1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00988	CPSase_sm_chain	1 → 138	Carbamoyl-phosphate synthase small chain, CPSase domain	Domain
PF00117	GATase	179 → 356	Glutamine amidotransferase class-I	Domain
PF02786	CPSase_L_D2	514 → 718	Carbamoyl-phosphate synthase L chain, ATP binding domain	Domain
PF02787	CPSase_L_D3	800 → 881	Carbamoyl-phosphate synthetase large chain, oligomerisation domain	Domain
PF02786	CPSase_L_D2	1047 → 1250	Carbamoyl-phosphate synthase L chain, ATP binding domain	Domain
PF02142	MGS	1327 → 1428	MGS-like domain	Domain
PF01979	Amidohydro_1	1462 → 1745	Amidohydrolase family	Domain
PF02729	OTCace_N	1924 → 2065	Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding domain	Domain
PF00185	OTCace	2071 → 2221	Aspartate/ornithine carbamoyltransferase, Asp/Orn binding domain	Domain

Sequence

MAALVLEDGSVLRGQPFGAAVSTAGEVVFQTGMVGYPEALTDPSYKAQILVLTYPLIGNY
GIPPDEMDEFGLCKWFESSGIHVAALVVGECCPTPSHWSATRTLHEWLQQHGIPGLQGVD
TRELTKKLREQGSLLGKLVQNGTEPSSLPFLDPNARPLVPEVSIKTPRVFNTGGAPRILA
LDCGLKYNQIRCLCQRGAEVTVVPWDHALDSQEYEGLFLSNGPGDPASYPSVVSTLSRVL
SEPNPRPVFGICLGHQLLALAIGAKTYKMRYGNRGHNQPCLLVGSGRCFLTSQNHGFAVE
TDSLPADWAPLFTNANDGSNEGIVHNSLPFFSVQFHPEHQAGPSDMELLFDIFLETVKEA
TAGNPGGQTVRERLTERLCPPGIPTPGSGLPPPRKVLILGSGGLSIGQAGEFDYSGSQAI
KALKEENIQTLLINPNIATVQTSQGLADKVYFLPITPHYVTQVIRNERPDGVLLTFGGQT
ALNCGVELTKAGVLARYGVRVLGTPVETIELTEDRRAFAARMAEIGEHVAPSEAANSLEQ
AQAAAERLGYPVLVRAAFALGGLGSGFASNREELSALVAPAFAHTSQVLVDKSLKGWKEI
EYEVVRDAYGNCVTVCNMENLDPLGIHTGESIVVAPSQTLNDREYQLLRQTAIKVTQHLG
IVGECNVQYALNPESEQYYIIEVNARLSRSSALASKATGYPLAYVAAKLALGIPLPELRN
SVTGGTAAFEPSVDYCVVKIPRWDLSKFLRVSTKIGSCMKSVGEVMGIGRSFEEAFQKAL
RMVDENCVGFDHTVKPVSDMELETPTDKRIFVVAAALWAGYSVDRLYELTRIDRWFLHRM
KRIIAHAQLLEQHRGQPLPPDLLQQAKCLGFSDKQIALAVLSTELAVRKLRQELGICPAV
KQIDTVAAEWPAQTNYLYLTYWGTTHDLTFRTPHVLVLGSGVYRIGSSVEFDWCAVGCIQ
QLRKMGYKTIMVNYNPETVSTDYDMCDRLYFDEISFEVVMDIYELENPEGVILSMGGQLP
NNMAMALHRQQCRVLGTSPEAIDSAENRFKFSRLLDTIGISQPQWRELSDLESARQFCQT
VGYPCVVRPSYVLSGAAMNVAYTDGDLERFLSSAAAVSKEHPVVISKFIQEAKEIDVDAV
ASDGVVAAIAISEHVENAGVHSGDATLVTPPQDITAKTLERIKAIVHAVGQELQVTGPFN
LQLIAKDDQLKVIECNVRVSRSFPFVSKTLGVDLVALATRVIMGEEVEPVGLMTGSGVVG
VKVPQFSFSRLAGADVVLGVEMTSTGEVAGFGESRCEAYLKAMLSTGFKIPKKNILLTIG
SYKNKSELLPTVRLLESLGYSLYASLGTADFYTEHGVKVTAVDWHFEEAVDGECPPQRSI
LEQLAEKNFELVINLSMRGAGGRRLSSFVTKGYRTRRLAADFSVPLIIDIKCTKLFVEAL
GQIGPAPPLKVHVDCMTSQKLVRLPGLIDVHVHLREPGGTHKEDFASGTAAALAGGITMV
CAMPNTRPPIIDAPALALAQKLAEAGARCDFALFLGASSENAGTLGTVAGSAAGLKLYLN
ETFSELRLDSVVQWMEHFETWPSHLPIVAHAEQQTVAAVLMVAQLTQRSVHICHVARKEE
ILLIKAAKARGLPVTCEVAPHHLFLSHDDLERLGPGKGEVRPELGSRQDVEALWENMAVI
DCFASDHAPHTLEEKCGSRPPPGFPGLETMLPLLLTAVSEGRLSLDDLLQRLHHNPRRIF
HLPPQEDTYVEVDLEHEWTIPSHMPFSKAHWTPFEGQKVKGTVRRVVLRGEVAYIDGQVL
VPPGYGQDVRKWPQGAVPQLPPSAPATSEMTTTPERPRRGIPGLPDGRFHLPPRIHRASD
PGLPAEEPKEKSSRKVAEPELMGTPDGTCYPPPPVPRQASPQNLGTPGLLHPQTSPLLHS
LVGQHILSVQQFTKDQMSHLFNVAHTLRMMVQKERSLDILKGKVMASMFYEVSTRTSSSF
AAAMARLGGAVLSFSEATSSVQKGESLADSVQTMSCYADVVVLRHPQPGAVELAAKHCRR
PVINAGDGVGEHPTQALLDIFTIREELGTVNGMTITMVGDLKHGRTVHSLACLLTQYRVS
LRYVAPPSLRMPPTVRAFVASRGTKQEEFESIEEALPDTDVLYMTRIQKERFGSTQEYEA
CFGQFILTPHIMTRAKKKMVVMHPMPRVNEISVEVDSDPRAAYFRQAENGMYIRMALLAT
VLGRF

Sequence length

2225

Interactions

View interactions

163

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy, 50	Likely pathogenic; Pathogenic	rs2148080342, rs1475014505, rs1159635090, rs769567624, rs2465293335, rs751610198, rs1057519262, rs62130681, rs139332887, rs1572423883, rs1676249686, rs1676113645	RCV001420666 RCV002279765 RCV005023404 RCV000185620 RCV004594904 RCV000415540 RCV000415584 RCV000415514 RCV000986606 RCV000986604 RCV001196647 RCV005029846
Infantile epileptic dyskinetic encephalopathy	Likely pathogenic; Pathogenic	rs2465322898, rs139332887	RCV002302513 RCV001778976
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs757585784	RCV005930230
Pancreatic adenocarcinoma	Likely pathogenic	rs2465306442	RCV005930648

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Uncertain significance	rs73921471, rs1184277935	RCV005915938 RCV005924092
CAD-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs760485703, rs2304684, rs771233542, rs376049827, rs199692135, rs571278168, rs202191629, rs371380215, rs367628714, rs771346392, rs186063223, rs146093881, rs529547258, rs748683362, rs753824069 View all (31 more)	RCV003928875 RCV003984071 RCV003941196 RCV004753443 RCV004753464 RCV003958543 RCV003978592 RCV004753526 RCV003895943 RCV003923725 RCV003960884 RCV003951082 RCV003903480 RCV003978774 RCV003895944 RCV003978587 RCV003911182 RCV003933380 RCV003951084 RCV003973440 RCV003898483 RCV003402147 RCV003984395 RCV003909064 RCV003972029 RCV003976951 RCV003912604 RCV003928497 RCV003970821 RCV004753150 RCV003906042 RCV003936063 RCV003972913 RCV003968151 RCV003940566 RCV003968000 RCV003948356 RCV003958194 RCV003910740 RCV003912958 RCV004753103 RCV003968403 RCV003923285 RCV003942913 RCV003936205 RCV003953409
Cervical cancer	Uncertain significance; Likely benign	rs1435281530, rs151119882	RCV005928581 RCV005906186
Congenital anomaly of face	Uncertain significance	rs1676344855	RCV001030800
Coronary artery disease, autosomal dominant 2	Uncertain significance	rs748934301, rs761813123, rs1676166507, rs2465362275	RCV003992607 RCV003993526 RCV003993551 RCV003991856
Epilepsy	Uncertain significance	rs1676344855	RCV001030800
Familial cancer of breast	Uncertain significance; Likely benign	rs770953907, rs151119882, rs1437702914	RCV005911077 RCV005906185 RCV005907524
Gastric cancer	Likely benign	rs151119882	RCV005906187
Hepatocellular carcinoma	Uncertain significance	rs778481242	RCV005932055
Intellectual disability	Uncertain significance	rs1676344855	RCV001030800
Lung cancer	Benign	rs73921471	RCV005915942
Malignant tumor of esophagus	Benign	rs73921471	RCV005915939
Malignant tumor of urinary bladder	Uncertain significance	rs769349785	RCV005909303
Melanoma	Likely benign	rs151119882	RCV005906189
Meniere disease	Uncertain significance	rs138025761, rs367833212, rs747127558, rs758739162	RCV004571932 RCV004571618 RCV004573508 RCV004573509
Nonpapillary renal cell carcinoma	Likely benign	rs760048983	RCV005931573
Sarcoma	Benign	rs73921471	RCV005915940
Uterine carcinosarcoma	Benign	rs73921471	RCV005915941
Uterine corpus endometrial carcinoma	Likely benign; Uncertain significance	rs369231735, rs368695129, rs370009402, rs769349785	RCV005928178 RCV005926100 RCV005926594 RCV005909304
Uveal melanoma	Likely benign	rs758733421	RCV005869704

CAD (carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase)