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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	100
Gene name	Adenosine deaminase
Gene symbol	ADA
Synonyms (NCBI Gene)	ADA1
Chromosome	20
Chromosome location	20q13.12
Summary	This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine in the purine catabolic pathway. Various mutations have been described for this gene and have been linked to human diseases related to impaired immune function such as sever

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SNP ID	Visualize variation	Clinical significance	Consequence
rs45557242	C>T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, non coding transcript variant, synonymous variant, 5 prime UTR variant
rs61732239	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs73598374	C>A,G,T	Benign-likely-benign, pathogenic, benign	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs79281338	C>A,T	Pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs114025668	C>T	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs121908714	C>A,G,T	Not-provided, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121908715	G>A	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121908716	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs121908718	G>A,T	Not-provided, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121908719	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121908721	G>A,C	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121908722	C>A,G,T	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs121908723	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs121908724	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs121908725	G>C	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs121908728	G>C,T	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs121908729	G>A	Not-provided, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121908731	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs121908735	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs121908736	G>A	Not-provided, uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs121908737	C>T	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs121908738	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, intron variant
rs121908739	A>G	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121908740	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs199422327	A>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs199422328	C>A	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs267606634	T>A,C	Pathogenic	Initiator codon variant, coding sequence variant, missense variant, non coding transcript variant
rs267606635	G>C	Pathogenic	Synonymous variant, coding sequence variant, missense variant, non coding transcript variant
rs387906267	T>C	Likely-pathogenic	Splice acceptor variant
rs387906268	A>T	Pathogenic	Intron variant
rs528390681	C>T	Likely-pathogenic	Splice donor variant
rs587776534	C>G	Pathogenic	Splice donor variant
rs746052951	C>T	Likely-pathogenic	Splice donor variant
rs749484894	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs751147673	C>A,T	Likely-pathogenic	Splice acceptor variant
rs751635016	C>A,T	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs757796081	->CCAGA	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs758073965	CC>-,C	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs761242509	C>T	Pathogenic	Splice donor variant, intron variant
rs763595926	CTCA>-	Likely-pathogenic	Splice donor variant, coding sequence variant, non coding transcript variant, intron variant
rs766590645	C>G	Likely-pathogenic	Splice donor variant, intron variant
rs771266745	TCTTC>-,TCTTCTCTTC	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs778343059	C>G,T	Pathogenic	Splice donor variant
rs778809577	G>A,T	Pathogenic-likely-pathogenic	Non coding transcript variant, coding sequence variant, synonymous variant, missense variant
rs780014431	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained, non coding transcript variant
rs886041796	C>-,CC	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, stop gained, frameshift variant
rs1057520217	G>A	Pathogenic	Stop gained, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1194494050	C>T	Pathogenic	Intron variant
rs1209280928	T>A,G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs1452483770	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1555843178	A>T	Likely-pathogenic	Splice donor variant
rs1555844006	A>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1555844120	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555844395	G>C	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555844600	A>G,T	Uncertain-significance, pathogenic	Intron variant
rs1555844616	->TGGCCCACTAGGGCCACCACCT	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, frameshift variant
rs1555844617	->T	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, frameshift variant
rs1555845120	A>C	Likely-pathogenic	Splice donor variant
rs1568845361	A>G	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs1600921786	T>-	Likely-pathogenic	Splice acceptor variant

100

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miRTarBase ID	miRNA	Experiments	Reference
MIRT027685	hsa-miR-98-5p	Microarray	19088304
MIRT041891	hsa-miR-484	CLASH	23622248
MIRT438367	hsa-miR-140-5p	Luciferase reporter assayWestern blot	24530397
MIRT438367	hsa-miR-140-5p	Luciferase reporter assayWestern blot	24530397
MIRT438367	hsa-miR-140-5p	Luciferase reporter assayWestern blot	24530397
MIRT438367	hsa-miR-140-5p	Luciferase reporter assayWestern blot	24530397
MIRT765699	hsa-miR-1178	CLIP-seq
MIRT765700	hsa-miR-1252	CLIP-seq
MIRT765701	hsa-miR-202	CLIP-seq
MIRT765702	hsa-miR-2681	CLIP-seq
MIRT765703	hsa-miR-296-3p	CLIP-seq
MIRT765704	hsa-miR-298	CLIP-seq
MIRT765705	hsa-miR-29a	CLIP-seq
MIRT765706	hsa-miR-29b	CLIP-seq
MIRT765707	hsa-miR-29c	CLIP-seq
MIRT765708	hsa-miR-3202	CLIP-seq
MIRT765709	hsa-miR-3663-3p	CLIP-seq
MIRT765710	hsa-miR-3919	CLIP-seq
MIRT765711	hsa-miR-3944-5p	CLIP-seq
MIRT765712	hsa-miR-409-3p	CLIP-seq
MIRT765713	hsa-miR-432	CLIP-seq
MIRT765714	hsa-miR-4433	CLIP-seq
MIRT765715	hsa-miR-4435	CLIP-seq
MIRT765716	hsa-miR-4459	CLIP-seq
MIRT765717	hsa-miR-4461	CLIP-seq
MIRT765718	hsa-miR-4495	CLIP-seq
MIRT765719	hsa-miR-4533	CLIP-seq
MIRT765720	hsa-miR-4685-5p	CLIP-seq
MIRT765721	hsa-miR-4690-3p	CLIP-seq
MIRT765722	hsa-miR-4711-5p	CLIP-seq
MIRT765723	hsa-miR-4756-3p	CLIP-seq
MIRT765724	hsa-miR-4768-3p	CLIP-seq
MIRT765725	hsa-miR-4778-3p	CLIP-seq
MIRT765726	hsa-miR-4789-3p	CLIP-seq
MIRT765727	hsa-miR-548c-3p	CLIP-seq
MIRT765728	hsa-miR-642b	CLIP-seq
MIRT765722	hsa-miR-4711-5p	CLIP-seq
MIRT1925646	hsa-miR-1226	CLIP-seq
MIRT765701	hsa-miR-202	CLIP-seq
MIRT765703	hsa-miR-296-3p	CLIP-seq
MIRT765710	hsa-miR-3919	CLIP-seq
MIRT765717	hsa-miR-4461	CLIP-seq
MIRT765722	hsa-miR-4711-5p	CLIP-seq
MIRT1925647	hsa-miR-4715-3p	CLIP-seq
MIRT765723	hsa-miR-4756-3p	CLIP-seq
MIRT765702	hsa-miR-2681	CLIP-seq
MIRT2167020	hsa-miR-3173-3p	CLIP-seq
MIRT2167021	hsa-miR-3942-3p	CLIP-seq
MIRT2167022	hsa-miR-4272	CLIP-seq
MIRT765717	hsa-miR-4461	CLIP-seq
MIRT765722	hsa-miR-4711-5p	CLIP-seq
MIRT2167023	hsa-miR-4779	CLIP-seq
MIRT765726	hsa-miR-4789-3p	CLIP-seq
MIRT765699	hsa-miR-1178	CLIP-seq
MIRT765700	hsa-miR-1252	CLIP-seq
MIRT765702	hsa-miR-2681	CLIP-seq
MIRT2469499	hsa-miR-3170	CLIP-seq
MIRT765708	hsa-miR-3202	CLIP-seq
MIRT2469500	hsa-miR-342-5p	CLIP-seq
MIRT765712	hsa-miR-409-3p	CLIP-seq
MIRT2469501	hsa-miR-4259	CLIP-seq
MIRT765713	hsa-miR-432	CLIP-seq
MIRT2469502	hsa-miR-4323	CLIP-seq
MIRT2469503	hsa-miR-4443	CLIP-seq
MIRT765717	hsa-miR-4461	CLIP-seq
MIRT2469504	hsa-miR-4493	CLIP-seq
MIRT765718	hsa-miR-4495	CLIP-seq
MIRT765719	hsa-miR-4533	CLIP-seq
MIRT2469505	hsa-miR-4651	CLIP-seq
MIRT2469506	hsa-miR-4664-5p	CLIP-seq
MIRT765721	hsa-miR-4690-3p	CLIP-seq
MIRT2469507	hsa-miR-4758-3p	CLIP-seq
MIRT765725	hsa-miR-4778-3p	CLIP-seq
MIRT2469508	hsa-miR-4797-5p	CLIP-seq
MIRT765727	hsa-miR-548c-3p	CLIP-seq
MIRT2469509	hsa-miR-571	CLIP-seq
MIRT2469510	hsa-miR-608	CLIP-seq
MIRT2469511	hsa-miR-765	CLIP-seq
MIRT765699	hsa-miR-1178	CLIP-seq
MIRT765700	hsa-miR-1252	CLIP-seq
MIRT765702	hsa-miR-2681	CLIP-seq
MIRT2469499	hsa-miR-3170	CLIP-seq
MIRT765708	hsa-miR-3202	CLIP-seq
MIRT2469500	hsa-miR-342-5p	CLIP-seq
MIRT765712	hsa-miR-409-3p	CLIP-seq
MIRT2469501	hsa-miR-4259	CLIP-seq
MIRT765713	hsa-miR-432	CLIP-seq
MIRT2469502	hsa-miR-4323	CLIP-seq
MIRT765717	hsa-miR-4461	CLIP-seq
MIRT765718	hsa-miR-4495	CLIP-seq
MIRT765719	hsa-miR-4533	CLIP-seq
MIRT2469505	hsa-miR-4651	CLIP-seq
MIRT2469506	hsa-miR-4664-5p	CLIP-seq
MIRT765721	hsa-miR-4690-3p	CLIP-seq
MIRT2469507	hsa-miR-4758-3p	CLIP-seq
MIRT765725	hsa-miR-4778-3p	CLIP-seq
MIRT2469508	hsa-miR-4797-5p	CLIP-seq
MIRT765727	hsa-miR-548c-3p	CLIP-seq
MIRT2469509	hsa-miR-571	CLIP-seq
MIRT2469510	hsa-miR-608	CLIP-seq

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Transcription factor	Regulation	Reference
SP1	Unknown	8127716

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000255	Process	Allantoin metabolic process	IEA
GO:0001666	Process	Response to hypoxia	IDA	16670267
GO:0001701	Process	In utero embryonic development	IEA
GO:0001829	Process	Trophectodermal cell differentiation	IEA
GO:0001889	Process	Liver development	IEA
GO:0001890	Process	Placenta development	IEA
GO:0002314	Process	Germinal center B cell differentiation	IEA
GO:0002467	Process	Germinal center formation	IEA
GO:0002636	Process	Positive regulation of germinal center formation	IEA
GO:0002686	Process	Negative regulation of leukocyte migration	IEA
GO:0002901	Process	Mature B cell apoptotic process	IEA
GO:0002906	Process	Negative regulation of mature B cell apoptotic process	IEA
GO:0004000	Function	Adenosine deaminase activity	IBA
GO:0004000	Function	Adenosine deaminase activity	IDA	3182793, 8452534, 8894685, 9361033, 11999881, 16670267
GO:0004000	Function	Adenosine deaminase activity	IEA
GO:0004000	Function	Adenosine deaminase activity	IMP	26166670
GO:0004000	Function	Adenosine deaminase activity	ISS
GO:0005515	Function	Protein binding	IPI	7594462, 8101391, 14684150, 28514442, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IDA	8452534
GO:0005764	Component	Lysosome	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0006154	Process	Adenosine catabolic process	IBA
GO:0006154	Process	Adenosine catabolic process	IDA	8894685
GO:0006154	Process	Adenosine catabolic process	IDA	16670267
GO:0006154	Process	Adenosine catabolic process	IEA
GO:0006154	Process	Adenosine catabolic process	IEA
GO:0006154	Process	Adenosine catabolic process	ISS
GO:0006157	Process	Deoxyadenosine catabolic process	IEA
GO:0006196	Process	AMP catabolic process	IEA
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0006915	Process	Apoptotic process	IEA
GO:0006939	Process	Smooth muscle contraction	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	IMP	7599635
GO:0008270	Function	Zinc ion binding	ISS
GO:0009117	Process	Nucleotide metabolic process	IEA
GO:0009168	Process	Purine ribonucleoside monophosphate biosynthetic process	IEA
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009897	Component	External side of plasma membrane	IDA	7759315, 16670267
GO:0009986	Component	Cell surface	IDA	7594462, 11772392
GO:0010460	Process	Positive regulation of heart rate	IEA
GO:0014074	Process	Response to purine-containing compound	IDA	25644539
GO:0016020	Component	Membrane	IDA	11999881
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019239	Function	Deaminase activity	EXP	2166947, 2783588, 3182793
GO:0019239	Function	Deaminase activity	IEA
GO:0019239	Function	Deaminase activity	TAS
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0030217	Process	T cell differentiation	IEA
GO:0030324	Process	Lung development	IEA
GO:0030890	Process	Positive regulation of B cell proliferation	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032261	Process	Purine nucleotide salvage	IMP	9361033
GO:0032263	Process	GMP salvage	IEA
GO:0033077	Process	T cell differentiation in thymus	IEA
GO:0033089	Process	Positive regulation of T cell differentiation in thymus	IEA
GO:0033632	Process	Regulation of cell-cell adhesion mediated by integrin	IDA	11772392
GO:0042100	Process	B cell proliferation	IEA
GO:0042110	Process	T cell activation	IBA
GO:0042110	Process	T cell activation	IDA	7594462
GO:0042110	Process	T cell activation	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043084	Process	Penile erection	IEA
GO:0043101	Process	Purine-containing compound salvage	TAS
GO:0043103	Process	Hypoxanthine salvage	IBA
GO:0043605	Process	Amide catabolic process	IEA
GO:0044209	Process	AMP salvage	IEA
GO:0045187	Process	Regulation of circadian sleep/wake cycle, sleep	IBA
GO:0045580	Process	Regulation of T cell differentiation	IEA
GO:0045582	Process	Positive regulation of T cell differentiation	IEA
GO:0045987	Process	Positive regulation of smooth muscle contraction	IEA
GO:0046059	Process	DAMP catabolic process	IEA
GO:0046061	Process	DATP catabolic process	IEA
GO:0046085	Process	Adenosine metabolic process	IDA	25644539
GO:0046101	Process	Hypoxanthine biosynthetic process	IEA
GO:0046103	Process	Inosine biosynthetic process	IBA
GO:0046103	Process	Inosine biosynthetic process	IDA	8894685
GO:0046103	Process	Inosine biosynthetic process	IEA
GO:0046103	Process	Inosine biosynthetic process	ISS
GO:0046111	Process	Xanthine biosynthetic process	IEA
GO:0046632	Process	Alpha-beta T cell differentiation	IEA
GO:0046638	Process	Positive regulation of alpha-beta T cell differentiation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046936	Function	2'-deoxyadenosine deaminase activity	IEA
GO:0046936	Function	2'-deoxyadenosine deaminase activity	IMP	9361033
GO:0048286	Process	Lung alveolus development	IEA
GO:0048541	Process	Peyer's patch development	IEA
GO:0048566	Process	Embryonic digestive tract development	IEA
GO:0050728	Process	Negative regulation of inflammatory response	IEA
GO:0050850	Process	Positive regulation of calcium-mediated signaling	IEA
GO:0050852	Process	T cell receptor signaling pathway	IEA
GO:0050862	Process	Positive regulation of T cell receptor signaling pathway	IEA
GO:0050870	Process	Positive regulation of T cell activation	IEA
GO:0050900	Process	Leukocyte migration	IEA
GO:0060169	Process	Negative regulation of adenosine receptor signaling pathway	IBA
GO:0060169	Process	Negative regulation of adenosine receptor signaling pathway	IDA	16670267
GO:0060205	Component	Cytoplasmic vesicle lumen	IEA
GO:0060407	Process	Negative regulation of penile erection	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0070242	Process	Thymocyte apoptotic process	IEA
GO:0070244	Process	Negative regulation of thymocyte apoptotic process	IEA
GO:0070254	Process	Mucus secretion	IEA
GO:0070256	Process	Negative regulation of mucus secretion	IEA

MIM	HGNC	e!Ensembl
608958	186	ENSG00000196839

P00813

Protein name

Adenosine deaminase (EC 3.5.4.4) (Adenosine aminohydrolase)

Protein function

Catalyzes the hydrolytic deamination of adenosine and 2-deoxyadenosine (PubMed:16670267, PubMed:23193172, PubMed:26166670, PubMed:8452534, PubMed:9361033). Plays an important role in purine metabolism and in adenosine homeostasis. Modulates sign

PDB

3IAR , 7RTG

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00962	A_deaminase	8 → 346	Adenosine/AMP deaminase	Domain

Tissue specificity

TISSUE SPECIFICITY: Found in all tissues, occurs in large amounts in T-lymphocytes (PubMed:20959412). Expressed at the time of weaning in gastrointestinal tissues. {ECO:0000269|PubMed:20959412}.

Sequence

MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPD
FLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQA
EGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPNWSPKVVELCKKYQQQTVVAI
DLAGDETIPGSSLLPGHVQAYQEAVKSGIHRTVHAGEVGSAEVVKEAVDILKTERLGHGY
HTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIF
KSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAG
QNL

Sequence length

363

Interactions

View interactions

	KEGG		Reactome
	Purine metabolism Metabolic pathways Nucleotide metabolism Primary immunodeficiency		Purine salvage

732

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ADA-related disorder	Likely pathogenic; Pathogenic	rs199422327, rs121908715, rs121908723, rs778809577, rs886041796, rs780014431	RCV004752678 RCV003944791 RCV003904795 RCV003403304 RCV004752966 RCV004752986
SCID due to ADA deficiency, delayed onset	Likely pathogenic; Pathogenic	rs1194494050, rs121908722	RCV000002049 RCV000002061
Severe combined immunodeficiency disease	Likely pathogenic; Pathogenic	rs758073965, rs2123508053, rs121908714, rs121908739, rs121908735, rs121908721, rs199422328, rs121908722, rs746052951, rs761242509, rs751635016, rs886041796, rs780014431, rs778343059, rs1312320956 View all (5 more)	RCV003120597 RCV003230683 RCV003234887 RCV001731270 RCV000780816 RCV004766976 RCV006263612 RCV001731272 RCV005055784 RCV001731467 RCV004587504 RCV004586345 RCV000780818 RCV001194147 RCV001731865 RCV001731875 RCV006268936 RCV000780819 RCV003155284 RCV005430961 RCV003226425 RCV001732098
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	Likely pathogenic; Pathogenic	rs121908722, rs1363043396, rs759445496, rs1199690825, rs758073965, rs1419063255, rs587776534, rs2123508053, rs2065345592, rs2123517868, rs2123517896, rs2065327638, rs121908718, rs121908731, rs2145318314 View all (114 more)	RCV001379577 RCV001378051 RCV001390080 RCV001381316 RCV001388454 RCV001388888 RCV001382432 RCV003474011 RCV003475671 RCV001783196 RCV003991045 RCV001824241 RCV002004261 RCV001988936 RCV002005238 RCV002015625 RCV002020119 RCV001902993 RCV002007316 RCV002000193 RCV001899376 RCV001946542 RCV002041477 RCV001959109 RCV001937685 RCV002027278 RCV000002032 RCV000002033 RCV000002034 RCV000002035 RCV000002036 RCV000002042 RCV000002045 RCV000002046 RCV000002047 RCV000002048 RCV003466782 RCV000002052 RCV000002053 RCV000002054 RCV000059106 RCV002309645 RCV002309816 RCV002307879 RCV002308146 RCV002308309 RCV002309062 RCV002309401 RCV002309423 RCV002309492 RCV002310200 RCV002310365 RCV003050556 RCV003064605 RCV003089705 RCV000173618 RCV003106992 RCV002576974 RCV002755400 RCV002877239 RCV001854840 RCV003013933 RCV003052319 RCV003048826 RCV003048197 RCV000215113 RCV000002055 RCV001729503 RCV003475684 RCV003475685 RCV003475688 RCV003475691 RCV003475697 RCV003468380 RCV003468395 RCV003468396 RCV003475667 RCV003475670 RCV003475674 RCV003475675 RCV003475676 RCV003498965 RCV003497781 RCV003498322 RCV003499315 RCV003499347 RCV003603236 RCV003604199 RCV003603838 RCV003603839 RCV003867160 RCV004576135 RCV004575513 RCV004575545 RCV004575550 RCV004575556 RCV000687426 RCV000668819 RCV003476147 RCV002513235 RCV000538818 RCV000606716 RCV000668278 RCV000665110 RCV000671592 RCV000670969 RCV000674591 RCV000667118 RCV000664490 RCV000671054 RCV000671721 RCV000665482 RCV000674310 RCV000670951 RCV000665655 RCV000665672 RCV000670433 RCV000675036 RCV000673700 RCV000685056 RCV003603076 RCV001729699 RCV002533920 RCV000790400 RCV000809597 RCV000059095 RCV000059098 RCV000059099 RCV000059102 RCV000059103 RCV000059107 RCV000059108 RCV000059109 RCV001051394 RCV001066596 RCV001041522 RCV001044838 RCV001068593 RCV001233485 RCV001233354 RCV001243557 RCV001246793 RCV001263711 RCV001263783 RCV001263784 RCV001263785 RCV001729828
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	Pathogenic	rs121908715	RCV001194143

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs267606634, rs2123505581, rs267606635	-
Adenosine deaminase 2 allozyme	Benign	rs73598374	RCV000002050
Adrenocortical carcinoma, hereditary	Likely benign	rs146921882	RCV005900253
Cervical cancer	Likely benign	rs146921882	RCV005900254
Familial cancer of breast	Likely benign	rs146921882	RCV005900252
Melanoma	-	rs2516165932	RCV005930257
Partial adenosine deaminase deficiency	Conflicting classifications of pathogenicity; Uncertain significance	rs121908718, rs121908736, rs121908737, rs121908738, rs114025668, rs121908728, rs121908729	RCV000002038 RCV000002039 RCV000002040 RCV000002041 RCV000002044 RCV000002056 RCV000002057

Show/Hide Text Mining Associations (97)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	34777360
Acquired Immunodeficiency Syndrome	Associate	3922455
Adenocarcinoma of Lung	Associate	37081889
Anemia Diamond Blackfan	Associate	15238419, 23252420, 27258031, 34526430, 9834249
Anemia Hemolytic	Associate	2752123, 8213817
Anemia Hemolytic Congenital	Associate	2752123, 3029177
Anxiety	Associate	33235193
Anxiety Disorders	Associate	33235193
Arthritis Rheumatoid	Associate	12632419, 20943049, 34301999
Asthma	Associate	19019667
Atrial Fibrillation	Associate	33801676
Atrial Fibrillation	Inhibit	33801676
Autism Spectrum Disorder	Associate	27015428
Autistic Disorder	Associate	22869036
Carcinoma Squamous Cell	Associate	3973404
Chorioamnionitis	Associate	7618288
Choriocarcinoma	Associate	6683274
Chromosome 8 trisomy	Associate	16973956
Colitis Ulcerative	Associate	39596612
Colonic Neoplasms	Associate	11772392
Colorectal Neoplasms	Associate	28161934, 31413531, 32953885
COVID 19	Associate	36482706
Cystic Fibrosis	Associate	1376923
Diabetes Mellitus	Associate	21697546
Diabetes Mellitus Type 2	Associate	1899928, 8094595
Diabetic Angiopathies	Associate	29090621
Drug Hypersensitivity	Associate	3489233
Drug Related Side Effects and Adverse Reactions	Associate	3489233
Epilepsy	Associate	21204805, 26329539
Epileptic Encephalopathy Early Infantile 3	Associate	32719099
Epileptic encephalopathy Lennox Gastaut type	Associate	21734253
Epstein Barr Virus Infections	Associate	37420238
Fatigue	Associate	21734253
Genetic Diseases Inborn	Associate	6090454
Glioma	Associate	26329539
Growth Deficiency and Mental Retardation with Facial Dysmorphism	Associate	3560174
Heart Failure	Associate	25170811
Hematologic Diseases	Associate	32098966
HIV Infections	Associate	23240012, 23717651, 30778076
Hypertension	Associate	30192643
Hypothyroidism	Associate	29090621
Immune System Diseases	Associate	11807006, 21477850, 33974038, 35967411, 618871, 6254019
Immunologic Deficiency Syndromes	Associate	19179314, 3489233, 3839802, 468994, 6997299
Infections	Associate	10666243, 36482706
Inflammation	Associate	19914228, 31507593, 33007809, 34301999
Inflammatory Bowel Diseases	Associate	33872704
Leukemia	Associate	3567360, 37951201, 39216403, 6134754, 6607471
Leukemia Lymphocytic Chronic B Cell	Associate	1082452, 3567360, 6427005
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	7049266
Leukemia Myeloid	Associate	39216403
Leukemia Myeloid Acute	Associate	3140911, 32098966, 7049266
Leukemia Promyelocytic Acute	Inhibit	3306603
Leukocyte adhesion deficiency type 1	Associate	37253111
Liver Cirrhosis Biliary	Associate	34301999
Liver Diseases	Associate	27210814
Lupus Erythematosus Systemic	Associate	17376196
Lymphocytosis	Stimulate	6309282
Lymphoma	Associate	3567360
Lymphopenia	Associate	34777360, 6254019, 6603477
Macrostomia	Associate	3560174
Mason Type Diabetes	Associate	8094595
Mental Disorders	Associate	26495439, 33235193
Mucolipidoses	Associate	848490
Multiple Sclerosis	Associate	19914228, 33007809
Multiple Sclerosis Relapsing Remitting	Inhibit	19914228
Myelodysplastic Syndromes	Associate	32098966
Neonatal herpes	Associate	34948316
Neoplasms	Associate	25080434, 26329539, 27695712, 30575730, 32098966, 33497421, 34948316, 35967411, 37253111, 6309282
Neoplasms	Inhibit	31671624
Neoplastic Syndromes Hereditary	Associate	3922455
Neoplastic Syndromes Hereditary	Inhibit	6863546
Neural Tube Defects	Associate	25293959
Obesity	Associate	16355479
Peripheral Nervous System Neoplasms	Associate	16443732
Pleural Effusion	Associate	35379218, 36820087
Pre Eclampsia	Associate	25879409
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	3163799, 3567360
Precursor Cell Lymphoblastic Leukemia Lymphoma	Stimulate	6309282
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	3567360
Primary Immunodeficiency Diseases	Associate	31781678, 8023852
Prostatic Neoplasms	Associate	15016824
Pulmonary Disease Chronic Obstructive	Associate	27557561
Purine Nucleoside Phosphorylase Deficiency	Associate	618871
Renal Insufficiency Chronic	Associate	25963491
Reproductive Tract Infections	Associate	7199090
Scleroderma Diffuse	Associate	29760157
Severe Acute Respiratory Syndrome	Inhibit	6603477
Severe Combined Immunodeficiency	Associate	1061104, 1061119, 1117071, 1577723, 16905365, 18218852, 19179314, 21243617, 23240012, 24506932, 2549545, 29625577, 31781678, 32245326, 32880085 View all (16 more)
Severe Combined Immunodeficiency	Inhibit	29433935, 7380831
Severe combined immunodeficiency due to adenosine deaminase deficiency	Inhibit	1117071, 1155449, 11807006, 19179314, 29433935, 33007809, 3475710, 34777360, 3871777, 3946419, 6863546
Severe combined immunodeficiency due to adenosine deaminase deficiency	Associate	11807006, 16905365, 16973956, 18218852, 21243617, 2166947, 28346229, 33974038, 3475710, 3489233, 3684597, 3839802, 6134754, 6198631, 6997299, 8023852, 8258146, 9414266 View all (3 more)
Sleep Deprivation	Associate	21734253
Sleepiness	Associate	21734253
Squamous Cell Carcinoma of Head and Neck	Associate	33892811, 35409173
Tuberculosis Meningeal	Stimulate	39809152
Tuberculosis Multidrug Resistant	Associate	2565338
X Linked Combined Immunodeficiency Diseases	Associate	1155449, 21254403, 22622038, 3475710, 3946419, 6603477, 7199090

ADA (adenosine deaminase)