GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

Home
Browse
- Genes
- Diseases
- Pathways
  - Reactome
  - KEGG
Analysis
Help
Links
FAQ
Contact us

ADA (adenosine deaminase)

Gene

100

Adenosine deaminase

ADA

ADA1

20q13.12

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

Show/Hide all(60)

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

Show/Hide all(100)

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 assay, Western blot	24530397
MIRT438367	hsa-miR-140-5p	Luciferase reporter assay, Western blot	24530397
MIRT438367	hsa-miR-140-5p	Luciferase reporter assay, Western blot	24530397
MIRT438367	hsa-miR-140-5p	Luciferase reporter assay, Western 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

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
SP1	Unknown	8127716

Show/Hide all(71)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IDA	16670267
GO:0001821	Process	Histamine secretion	IEA
GO:0001829	Process	Trophectodermal cell differentiation	IEA
GO:0001883	Function	Purine nucleoside binding	IEA
GO:0001889	Process	Liver development	IEA
GO:0001890	Process	Placenta development	IEA
GO:0002314	Process	Germinal center B cell differentiation	IEA
GO:0002636	Process	Positive regulation of germinal center formation	IEA
GO:0002686	Process	Negative regulation of leukocyte migration	IEA
GO:0002906	Process	Negative regulation of mature B cell apoptotic process	IEA
GO:0004000	Function	Adenosine deaminase activity	EXP	3182793
GO:0004000	Function	Adenosine deaminase activity	IBA	21873635
GO:0004000	Function	Adenosine deaminase activity	IDA	3182793, 8452534, 8894685, 9361033, 11999881, 16670267
GO:0004000	Function	Adenosine deaminase activity	ISS
GO:0005515	Function	Protein binding	IPI	7594462, 8101391, 14684150
GO:0005615	Component	Extracellular space	IEA
GO:0005764	Component	Lysosome	IDA	8452534
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006154	Process	Adenosine catabolic process	IBA	21873635
GO:0006154	Process	Adenosine catabolic process	IDA	8894685, 16670267
GO:0006154	Process	Adenosine catabolic process	ISS
GO:0006157	Process	Deoxyadenosine catabolic process	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007568	Process	Aging	IEA
GO:0008270	Function	Zinc ion binding	IMP	7599635
GO:0008270	Function	Zinc ion binding	ISS
GO:0009168	Process	Purine ribonucleoside monophosphate biosynthetic process	IEA
GO:0009897	Component	External side of plasma membrane	IBA	21873635
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:0016020	Component	Membrane	IDA	11999881
GO:0030054	Component	Cell junction	IEA
GO:0030890	Process	Positive regulation of B cell proliferation	IEA
GO:0032261	Process	Purine nucleotide salvage	IMP	9361033
GO:0032839	Component	Dendrite cytoplasm	IEA
GO:0033089	Process	Positive regulation of T cell differentiation in thymus	IEA
GO:0033197	Process	Response to vitamin E	IEA
GO:0033632	Process	Regulation of cell-cell adhesion mediated by integrin	IDA	11772392
GO:0042110	Process	T cell activation	IBA	21873635
GO:0042110	Process	T cell activation	IDA	7594462
GO:0042323	Process	Negative regulation of circadian sleep/wake cycle, non-REM sleep	IEA
GO:0042493	Process	Response to drug	IEA
GO:0042542	Process	Response to hydrogen peroxide	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043101	Process	Purine-containing compound salvage	TAS
GO:0043103	Process	Hypoxanthine salvage	IBA	21873635
GO:0043278	Process	Response to morphine	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:0046103	Process	Inosine biosynthetic process	IBA	21873635
GO:0046103	Process	Inosine biosynthetic process	IDA	8894685
GO:0046103	Process	Inosine biosynthetic process	ISS
GO:0046111	Process	Xanthine biosynthetic process	IEA
GO:0046638	Process	Positive regulation of alpha-beta T cell differentiation	IEA
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:0050862	Process	Positive regulation of T cell receptor signaling pathway	IEA
GO:0060169	Process	Negative regulation of adenosine receptor signaling pathway	IBA	21873635
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:0070244	Process	Negative regulation of thymocyte apoptotic process	IEA
GO:0070256	Process	Negative regulation of mucus secretion	IEA

MIM	HGNC	e!Ensembl
608958	186	ENSG00000196839

Protein

UniProt ID

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

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

Associated diseases

Show/Hide Causal Diseases (10)

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634	11354825
Dermatitis	Inflammatory dermatosis	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	2305558
Lymphoma	Lymphoma	rs11540652, rs1592119138, rs1592123162, rs1599367044
Multiple gastrointestinal atresias	Multiple gastrointestinal atresias (disorder)	rs587776972, rs886037747, rs777469885, rs876657392, rs786205698, rs147914967, rs1057516047, rs1558568116, rs766411601, rs1572849873, rs1297794582, rs773754673, rs1684975294, rs1673619175
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391
Severe combined immunodeficiency disease	Severe Combined Immunodeficiency, Severe combined immunodeficiency due to adenosine deaminase deficiency, SCID Due to ADA Deficiency, Early-Onset	rs886037607, rs118203993, rs121908714, rs121908739, rs121908740, rs121908735, rs121908721, rs121908722, rs121908156, rs1564414523, rs1564418254, rs1564446526, rs786205074, rs121908157, rs121908159, rs786200884, rs397515357, rs104894562, rs137852624, rs137852625, rs137852626, rs137852627, rs137852507, rs137852509, rs111033619, rs111033620, rs1569480018, rs111033621, rs137852510, rs587776729, rs111033622, rs111033617, rs111033618, rs121917894, rs121917896, rs2133313409, rs121917897, rs28933392, rs104894282, rs104894283, rs104894285, rs121918570, rs121918572, rs730880318, rs104893674, rs730880319, rs104894453, rs104894454, rs104894451, rs137853206, rs777503956, rs267606645, rs267606648, rs397515390, rs193922346, rs193922347, rs193922348, rs193922349, rs193922350, rs137852508, rs193922640, rs193922641, rs193922643, rs193922645, rs193922361, rs193922364, rs193922464, rs148508754, rs193922574, rs113994174, rs606231246, rs397514671, rs397514686, rs397514755, rs199474679, rs199474685, rs199474686, rs199474681, rs150739647, rs267605358, rs886041036, rs587777335, rs587778405, rs145092287, rs587777562, rs606231256, rs200296680, rs786205456, rs786205517, rs774202259, rs786205615, rs878853261, rs786205890, rs782753385, rs746052951, rs869025224, rs869312857, rs869320660, rs869320659, rs869320658, rs879253742, rs886037924, rs886037925, rs750610248, rs886039394, rs761242509, rs886039387, rs886041043, rs886041044, rs886042051, rs886041333, rs749481781, rs1057517747, rs1057519506, rs1057523762, rs1057521062, rs1057520644, rs761583890, rs751635016, rs55729925, rs1064793248, rs1064793347, rs1064794027, rs781410769, rs1555524788, rs1486760100, rs769633203, rs1556330713, rs1555322558, rs1556330234, rs1556330755, rs1556329779, rs1556330552, rs1556329822, rs1556330286, rs1556331272, rs2146178281, rs376610445, rs757797994, rs775704953, rs1555743321, rs1564995660, rs1564995662, rs1556330249, rs144104577, rs886041796, rs1026474882, rs570768621, rs1556330562, rs1556330568, rs780014431, rs778343059, rs1555844617, rs1567629968, rs1567628757, rs1567629943, rs1567632864, rs1567632829, rs1567626023, rs1559328006, rs1561423197, rs1452483770, rs1568400897, rs1569479913, rs1568404443, rs1569480047, rs1563340753, rs368303189, rs1568431262, rs1568431102, rs1561424886, rs1602289943, rs1241698978, rs1569479994, rs1569480082, rs1602289649, rs1573261820, rs770985198, rs1589050343, rs1340132582, rs1589064324, rs1589070600, rs1213680890, rs149316157, rs1599873591, rs755706305, rs1602288051, rs1602289411, rs1602289183, rs1583513256, rs1589136659, rs1380154594, rs1011307501, rs1599876167, rs1569967422, rs1602289631, rs1573262398, rs760191638, rs1592117677, rs1640406042, rs372597855, rs1839558393, rs1839622622, rs1839957089, rs777008519, rs1233957241, rs2092261618, rs1839255008, rs1677695565, rs936493226, rs1162344514, rs991089005	26255240, 27604308, 19179314, 21664875, 22447032, 9758612, 23260757, 17185467, 6208479, 28266921, 2773932, 8051429, 2783588, 19179314, 8299233, 1346349, 9414266, 25525159, 1284479, 21664875, 25875700, 1974554, 8673127, 8227344, 2166947, 9758612, 3182793, 8401541, 9108404, 10200056, 19665771, 20544538, 26255240, 8178821, 7599635, 1680289, 9361033, 26376800, 27095930, 7554472, 11313286, 3475710, 22764473, 8614422, 11160213, 18952502, 27129325, 21624848, 2758612, 9806422, 9225964, 25954555, 14499267, 8258146, 22447032, 16276484, 16825284, 8589684, 3839802, 22968453

Show/Hide Unknown Diseases (17)

Unknown
Disease name	Disease term	dbSNP ID	References
Adenosine deaminase deficiency	Adenosine deaminase deficiency, Partial adenosine deaminase deficiency
Alopecia	Alopecia
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia
B-cell lymphoma	B-Cell Lymphomas
Aplasia of the thymus	Congenital absence of thymus
Eosinophilia	Eosinophilia
Exfoliative dermatitis	Exfoliative dermatitis
Hyperemia	Hyperemia		7949234, 2502780
Immune thrombocytopenic purpura	Immune thrombocytopenic purpura
Lung neoplasms	Lung Neoplasms		2305558
Mesangial sclerosis	Diffuse mesangial sclerosis (disorder)
Omenn syndrome	Omenn Syndrome
Otitis media	Recurrent otitis media	rs601338, rs1047781, rs1800028
Pancreatic adenocarcinoma	Pancreatic Ductal Adenocarcinoma	rs121908291, rs139375029, rs587780197, rs587780198, rs587780200, rs374741161, rs368806050, rs113676921, rs587780753, rs550499593, rs143544548, rs587780754, rs587780755, rs587780756, rs114593924, rs587780757, rs587780758, rs532961259, rs587780759, rs535155432, rs543821321, rs587780760, rs587780761, rs368350042, rs368890611, rs200060953, rs559000839, rs587780762, rs142116575, rs150764613, rs62333013, rs59633770, rs370602081, rs759105985, rs535118290, rs528879194, rs863224705, rs758706279, rs780516159, rs863224383, rs863224384, rs777359545, rs863224385, rs570874237, rs863224386, rs753092219, rs769161509, rs143417961, rs140360991, rs201707558, rs863224702, rs754158038, rs863224382, rs761530979, rs780692056, rs863224703, rs114250766, rs113515140, rs863224704, rs561750970, rs864622627, rs864622590, rs864622422, rs864622140, rs730882137, rs864622087, rs864622226, rs864622591, rs864622321, rs864622158, rs864622531, rs767729090, rs749041581, rs768485147, rs864622234, rs864622355, rs864622316, rs864622388, rs764242515, rs778134231, rs771679229, rs746599370, rs551131343, rs878854264, rs878854265, rs878854266, rs878854267, rs878854268, rs376654786, rs373500403, rs114171764, rs376394488, rs61051061, rs1806729, rs548068667, rs781516286, rs1059444, rs750112132, rs7673220, rs1060502975, rs778471055, rs925242863, rs143717202, rs372414187, rs927644209, rs764265611, rs1060502976, rs554297134, rs997146277, rs1060502974, rs1060504775, rs200020758, rs1060502973, rs777453756, rs952110792, rs1553965295, rs1553973196, rs1177108180, rs1477864263, rs368472947, rs182571219, rs1553984987, rs1263751006, rs201979617, rs1358006173, rs151071844, rs115937217, rs568490721, rs189021816, rs1319983866, rs1553965480, rs1553969553, rs1385898569, rs1553965526, rs1553968628, rs763802548, rs752296365, rs1553965214, rs1474793366, rs1553965326, rs778313832, rs1318598425, rs1470434769, rs755223646, rs557697540, rs747702421, rs1560940853, rs1560839872, rs1216822754, rs751364707, rs372708613, rs1560929667, rs1306250811, rs774034818, rs551420048, rs1581871066, rs1221751077, rs1220928329, rs759161069, rs757164572, rs115274645, rs769973229, rs115988233, rs767384375, rs778210310, rs1305250587, rs1239099971, rs1025237623, rs1211489449, rs900642927, rs1400689367, rs140584890, rs757885388, rs1231114395, rs996343137, rs1275232115, rs1046350904, rs762267147, rs373066707, rs867266337, rs1460784357, rs748432333, rs769517051, rs1560937938, rs750033888, rs781065277, rs1751999027, rs1246689760, rs1752077261, rs1754079127, rs1754736103, rs1757056910, rs114673468, rs756934356, rs1176026649, rs1762161869, rs200399043, rs1447433925, rs1389221540, rs893660432, rs1762582426
Sinusitis	Sinusitis
Spinal cord diseases	Spinal Cord Diseases		16325979
Thyroiditis	Thyroiditis

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412