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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	790
Gene name Gene Name - the full gene name approved by the HGNC.	Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CAD
Synonyms (NCBI Gene) Gene synonyms aliases	CDG1Z, DEE50, EIEE50, GATD4
Disease Acronyms (UniProt) Disease acronyms from UniProt database	DEE50
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2p23.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(11)

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

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

Transcription factors

Show/Hide all(3)

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

Show/Hide all(52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001889	Process	Liver development	IEA
GO:0004070	Function	Aspartate carbamoyltransferase activity	IBA	21873635
GO:0004070	Function	Aspartate carbamoyltransferase activity	ISS
GO:0004088	Function	Carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity	ISS
GO:0004151	Function	Dihydroorotase activity	IBA	21873635
GO:0004151	Function	Dihydroorotase activity	IDA	24332717
GO:0004151	Function	Dihydroorotase activity	ISS
GO:0004672	Function	Protein kinase activity	ISS
GO:0005524	Function	ATP binding	ISS
GO:0005634	Component	Nucleus	IDA	15890648
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA	15890648
GO:0005829	Component	Cytosol	TAS
GO:0006207	Process	'de novo' pyrimidine nucleobase biosynthetic process	IBA	21873635
GO:0006207	Process	'de novo' pyrimidine nucleobase biosynthetic process	IDA	24332717
GO:0006207	Process	'de novo' pyrimidine nucleobase biosynthetic process	ISS
GO:0006228	Process	UTP biosynthetic process	IBA	21873635
GO:0006541	Process	Glutamine metabolic process	IBA	21873635
GO:0006541	Process	Glutamine metabolic process	ISS
GO:0006807	Process	Nitrogen compound metabolic process	IBA	21873635
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:0017144	Process	Drug metabolic process	ISS
GO:0018107	Process	Peptidyl-threonine phosphorylation	ISS
GO:0019240	Process	Citrulline biosynthetic process	IBA	21873635
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:0035690	Process	Cellular response to drug	IEA
GO:0042594	Process	Response to starvation	IEA
GO:0042802	Function	Identical protein binding	IPI	24332717
GO:0042802	Function	Identical protein binding	ISS
GO:0042995	Component	Cell projection	ISS
GO:0043025	Component	Neuronal cell body	ISS
GO:0043195	Component	Terminal bouton	ISS
GO:0044205	Process	'de novo' UMP biosynthetic process	IEA
GO:0046134	Process	Pyrimidine nucleoside biosynthetic process	TAS
GO:0046777	Process	Protein autophosphorylation	ISS
GO:0051414	Process	Response to cortisol	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

MIM	HGNC	e!Ensembl
114010	1424	ENSG00000084774

Protein

UniProt ID

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

	KEGG		Reactome
	Arginine biosynthesis Pyrimidine metabolism Alanine, aspartate and glutamate metabolism Metabolic pathways Biosynthesis of cofactors		Pyrimidine biosynthesis

Show/Hide Causal Diseases (9)

Disease term	Disease name	dbSNP ID	References
Causal
Anemia	Anemia, Anemia, Sickle Cell	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)	38827
Beta thalassemia	beta Thalassemia	rs33930165, rs33946267, rs33950507, rs34378160, rs33960103, rs35424040, rs33933298, rs33972047, rs334, rs33969677, rs33940204, rs35256489, rs33986703, rs11549407, rs63750783 View all (204 more)	38827
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800 View all (467 more)
Congenital disorder of glycosylation	CAD-CDG	rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406 View all (80 more)
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Developmental regression	Developmental regression	rs1224421127
Epileptic encephalopathy	Epileptic encephalopathy, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625 View all (860 more)	28007989, 25678555, 28087732, 30914295
Hemoglobinopathy	Hemoglobin F Disease	rs35693898, rs34160180, rs33916412, rs35424040, rs33933298, rs33966761, rs35890959, rs35002698, rs33969677, rs33974936, rs33922842, rs35662066, rs34856846, rs35383398, rs63750532 View all (21 more)	38827
Hereditary spherocytosis	Hereditary spherocytosis	rs137852829, rs137852830, rs137852831, rs397514029, rs786205243, rs121918646, rs121918648, rs121918651, rs863223304, rs267607086, rs754614154, rs266257354, rs121917734, rs266257355, rs115998465 View all (40 more)	38827

Show/Hide Unknown Diseases (2)

Disease term	Disease name	References	Source
Unknown
Thalassemia	Thalassemia Minor, Thalassemia Intermedia	38827	ClinVar
Developmental And Epileptic Encephalopathy	developmental and epileptic encephalopathy, 50		GenCC

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