ADA (adenosine deaminase)

Gene

• 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

SNPs

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

miRNA

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

Transcription factor	Regulation	Reference
SP1	Unknown	8127716

Gene ontology (GO)

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

Other IDs

• MIM: 608958
• HGNC: 186
• e!Ensembl: 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

• 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

Pathways

KEGG:

Purine metabolism
Metabolic pathways
Nucleotide metabolism
Primary immunodeficiency

Reactome:

Purine salvage

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
ADA-related disorder	Likely pathogenic; Pathogenic	rs199422327, rs121908715, rs121908723, rs778809577, rs886041796, rs780014431	RCV004752678 RCV003944791 RCV003904795 RCV003403304 RCV004752966 RCV004752986	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SCID due to ADA deficiency, delayed onset	Likely pathogenic; Pathogenic	rs1194494050, rs121908722	RCV000002049 RCV000002061	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe combined immunodeficiency disease	Likely pathogenic; Pathogenic	rs758073965, rs2123508053, rs121908714, rs121908739, rs121908735, rs121908721, rs199422328, rs121908722, rs746052951, rs761242509, rs751635016, rs886041796, rs780014431, rs778343059, rs1312320956, rs1555844617, rs1452483770, rs121908719, rs1233957241, rs2065325898	RCV003120597 RCV003230683 RCV003234887 RCV001731270 RCV000780816 RCV004766976 RCV006263612 RCV001731272 RCV005055784 RCV001731467 RCV004587504 RCV004586345 RCV000780818 RCV001194147 RCV001731865 RCV001731875 RCV006268936 RCV000780819 RCV003155284 RCV005430961 RCV003226425 RCV001732098	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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, rs1441174171, rs2123517791, rs149520391, rs2123507871, rs2123511347, rs1230022655, rs1275500780, rs2123516572, rs2145366792, rs1555844395, rs776103734, rs121908717, rs121908714, rs121908716, rs199422327, rs121908715, rs121908739, rs121908723, rs387906267, rs121908735, rs121908721, rs1194494050, rs2123516908, rs199422328, rs2516181122, rs2516164716, rs2516161436, rs2516196919, rs2516175842, rs2516173100, rs2516164780, rs2516180932, rs2516166292, rs2516165624, rs2516161728, rs912914100, rs1388462218, rs771266745, rs1333878449, rs747762398, rs1156976510, rs2516175890, rs746052951, rs1323402380, rs949745416, rs2516172821, rs121908740, rs79281338, rs761242509, rs886041796, rs1450337857, rs2065362194, rs768720976, rs2516173144, rs2516161597, rs2516164897, rs2516175979, rs1393769363, rs751635016, rs528390681, rs2516165933, rs1600956379, rs1568844677, rs2516169701, rs2516161732, rs2516197108, rs2516161339, rs2516169508, rs2516172888, rs2516159042, rs1483349215, rs2065342420, rs778343059, rs2516175715, rs1057520217, rs763595926, rs778809577, rs780014431, rs1555845120, rs1555843178, rs766590645, rs1555844120, rs1312320956, rs1555844006, rs757796081, rs1555844616, rs1555844617, rs749484894, rs751147673, rs1555845122, rs1452483770, rs1568845361, rs1555844600, rs1209280928, rs1600921786, rs121908730, rs121908725, rs121908733, rs121908719, rs121908727, rs121908724, rs2065317387, rs2065325961, rs1225623204, rs1233957241, rs763478578, rs2065346614, rs2065348171, rs2065327187, rs2065327852, rs2065342571, rs748810619, rs2065361731, rs2065325898	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	Pathogenic	rs121908715	RCV001194143	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adenosine deaminase 2 allozyme	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEREMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OMENN SYNDROME	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Partial adenosine deaminase deficiency	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	1053696, 30581348, 31282760, 6309282		★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	6607471		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	29854023		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28928239, 30921217		★☆☆☆☆ Found in Text Mining only
Adenosine deaminase deficiency	Adenosine Deaminase Deficiency	BEFREE	1061119, 10720488, 11067872, 11223861, 12456496, 16651028, 17181544, 18597656, 21142972, 24972650, 27763769, 28319446, 29744787, 3007108, 3469459, 3489233, 3684597, 6134754, 6933468, 7239521, 7371221, 7599635, 7691188, 7749407, 8120281, 8290310, 9475605		★☆☆☆☆ Found in Text Mining only
Adenosine deaminase deficiency	Adenosine Deaminase Deficiency	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	30581348		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	18971634, 20372915, 20424386, 24115583, 24355598, 28045133, 29944911, 30698736, 30945056		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	2752123, 8213817	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic Congenital	Hemolytic anemia	Pubtator	2752123, 3029177	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Diamond-Blackfan	Anemia	BEFREE	15059149, 23252420, 24812435, 6646173, 9834249		★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	2752123, 7919352, 8579052		★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic, Congenital	Anemia	BEFREE	2752123, 3029177, 3348207, 6646173, 736030, 836588		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	19858092		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	22614344		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	33235193	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	33235193	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30641086		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	30119237, 31365139		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	12632419, 20943049, 34301999	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	LHGDN	12774669		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	BEFREE	16224193, 16754522, 19019667, 31044354		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	19019667	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	BEFREE	27863979, 30641086		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	31553329		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	33801676	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	33801676	Inhibit	★☆☆☆☆ Found in Text Mining only
Atypical Teratoid Rhabdoid Tumor	Teratoid Rhabdoid Tumor	BEFREE	29018304		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	27015428	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	17340203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	11121182, 11354825, 17340203, 22869036		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	11354825		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	LHGDN	17340203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	22869036	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	28638227		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	22184407, 29761620, 30126383		★☆☆☆☆ Found in Text Mining only
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia	BEFREE	30327760		★☆☆☆☆ Found in Text Mining only
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	25405820		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12375030, 29506637, 30291675		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	25449221		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28410823, 31200826, 31375946		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	3973404	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	17287605, 24836059, 28816530, 28816537, 30289308, 31553329		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	30581348		★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	25673044		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	6683274		★☆☆☆☆ Found in Text Mining only
Chronic granulomatous disease	Granulomatous Disease	BEFREE	17994122, 20008254, 20071242, 24848753, 8704221		★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	25170811		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	27863979, 30391503		★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	BEFREE	15705418		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	1082452		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	27557561		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	BEFREE	8754844		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	23758766		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	28661026		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	39596612	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	20590444		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	11772392	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31413531		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28161934, 31413531, 32953885	Associate	★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	10720488, 1246464, 19633200, 2989376		★☆☆☆☆ Found in Text Mining only
Combined molybdoflavoprotein enzyme deficiency	Combined molybdoflavoprotein enzyme deficiency	BEFREE	24972650		★☆☆☆☆ Found in Text Mining only
Congenital absence of thymus	Aplasia of the thymus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplastic anemia	Congenital Hypoplastic Anemia	BEFREE	6646173		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	25170811, 30921217		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27414070		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	17287605, 24836059, 31839921		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	17287605, 20581655, 24836059, 28816537, 31839921		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	LHGDN	17287605, 18560234		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	17287605, 24836059, 31839921		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	15761857, 30295785		★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic Neutropenia	BEFREE	3981053		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	1190732		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	1376923	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	12632419		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	17994430		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	3590141		★☆☆☆☆ Found in Text Mining only
Dermatofibrosarcoma	Dermatofibrosarcoma	BEFREE	22153773		★☆☆☆☆ Found in Text Mining only
Dermatofibrosarcoma Protuberans	Dermatofibrosarcoma Protuberans	BEFREE	22153773		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10388966, 10707033, 11228869, 11852372, 11938022, 20581655, 20800300, 24836059, 27863979, 28321313, 28683240, 28904260, 29054261, 29192743, 29868987, 30115607, 30857522, 7705022		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10388966, 10707033, 11228869, 11852372, 11938022, 20581655, 20800300, 24836059, 27863979, 28156156, 28321313, 28683240, 28816537, 28904260, 29054261, 29192743, 29868987, 30115607, 30663279, 30857522, 31455247, 31839921, 7705022, 9364370		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	21697546	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	1899928, 8094595	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	11938022, 15855308, 19789510, 20480728, 20805743, 25125338, 7955566, 9364370		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10459555, 12706317, 1446805, 15281007, 20503258, 20800300, 24836059, 28321313, 28720876, 29717337, 30126383, 30235049, 30505329, 30860284, 7924873, 9285775		★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic angiopathies	Pubtator	29090621	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	2752148, 6303563		★☆☆☆☆ Found in Text Mining only
Diffuse mesangial sclerosis (disorder)	Mesangial sclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	10459555, 15281007		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	3590141		★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	BEFREE	29194839		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	29194839		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	21204805, 26329539	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	26329539		★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	32719099	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	15257174		★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	30945056		★☆☆☆☆ Found in Text Mining only
GALACTOSIALIDOSIS	Galactosialidosis	BEFREE	3070044		★☆☆☆☆ Found in Text Mining only
Giant Cell Fibroblastoma	Giant Cell Fibroblastoma	BEFREE	22153773		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28167531		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28167531		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	26329539		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	26329539	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatous Disease, Chronic, X-Linked	Granulomatous Disease	BEFREE	18352845		★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	12375030, 1358262		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	30295785, 31204314		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	12761888		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	25170811	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	32098966	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	10175166, 30587076		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	LHGDN	17243920		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	BEFREE	18562134		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	28432556		★☆☆☆☆ Found in Text Mining only
Hyperemia	Hyperemia	BEFREE	18794722		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperemia	Hyperemia	CTD_human_DG	2502780, 7949234		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipidemia	Hyperlipidemia	BEFREE	29188537, 30679022		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type I	Hyperlipoproteinemia	BEFREE	31282760		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	30192643	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28816537, 30192643, 31839921		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	29663535		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	30235049		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	29090621, 29663535		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	29090621	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	11807006, 21477850, 33974038, 35967411, 618871, 6254019	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	12718732, 3927283, 3950545, 618871, 6646173		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	11807006, 17066574, 1848369, 2081198, 3475710, 3946419, 468994, 6303563, 7570000, 9225964, 9240965		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	23758766		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	28789636, 30295785		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	33872704	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	LHGDN	16970880		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	29274540		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	29160524		★☆☆☆☆ Found in Text Mining only
Juvenile polyposis syndrome	Polyposis Syndrome	BEFREE	28249975		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	LHGDN	17397971		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	30921217		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	27414070		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	31216643		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	3567360, 37951201, 39216403, 6134754, 6607471	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	39216403	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	3140911, 32098966, 7049266	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	3306603	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	Pubtator	37253111	Associate	★☆☆☆☆ Found in Text Mining only
Leukodystrophy, Metachromatic	Metachromatic Leukodystrophy	BEFREE	31150018		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29144509		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	34301999	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	27210814	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	22738791		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	2305558		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	17376196	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	12113294		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	17376196, 18462347, 29376206, 30409763		★☆☆☆☆ Found in Text Mining only
Lymphocytosis	Lymphocytosis	BEFREE	6309282		★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	BEFREE	25764155		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	25764155, 29218743, 31555687		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	3567360	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	1053696, 10720488, 10833410, 15705418, 21725047, 28842866, 30327760, 6134754, 8051429, 9063412, 9616253, 9758612		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	29243069, 30987561, 31273645, 7525186		★☆☆☆☆ Found in Text Mining only
Macrophage Activation Syndrome	Macrophage Activation Syndrome	BEFREE	25764155		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	30921217		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12375030, 29506637, 30291675		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	2305558		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28410823, 31200826, 31375946		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15016824		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10887640, 26857027, 2879510, 28864369, 29043661, 29145975, 29243069, 29269590, 29499460, 30159340, 30229863, 30471784, 30500143, 30575730, 30612940, 30987561, 31273645, 31671624, 3567360, 6309282		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	16443732		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	20590444		★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	1539597, 1628771, 1899928, 7508874, 8094595, 9243109		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	1437153, 26338962, 30921217		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Memory dysfunction	Memory Disorders	BEFREE	27491636		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	28410823		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	17181544, 27129325		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	20503258, 31104096		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	16970880		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	25405820		★☆☆☆☆ Found in Text Mining only
Mucolipidoses	Mucolipidosis	Pubtator	848490	Associate	★☆☆☆☆ Found in Text Mining only
Multiple gastrointestinal atresias (disorder)	Multiple gastrointestinal atresias	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	19914228, 33007809	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28170401, 28427701		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	21725047, 31299412		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	32098966	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	12375030, 2752148, 7049266		★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA	Myeloproliferative Disorder with Eosinophilia	BEFREE	30390322, 30651075, 31238901		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	31839921		★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	20480728		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12375030, 23291631, 28167531, 28655782, 29043661, 30257315, 30291675, 7842293		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	LHGDN	16133068		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	25293959		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	25293959	Associate	★☆☆☆☆ Found in Text Mining only
Neutrophilia (disorder)	Neutrophilia	BEFREE	28410823		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29797475, 31709646		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	12706317, 30896318		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	16355479	Associate	★☆☆☆☆ Found in Text Mining only
Omenn Syndrome	Omenn Syndrome	BEFREE	21624848		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Omenn Syndrome	Omenn Syndrome	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Omenn Syndrome	Omenn Syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Omenn syndrome	Omenn Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	16973956		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31121068		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	31200826		★☆☆☆☆ Found in Text Mining only
Partial adenosine deaminase deficiency	Adenosine Deaminase Deficiency	BEFREE	2166947, 3946419		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Partial adenosine deaminase deficiency	Adenosine Deaminase Deficiency	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Partial adenosine deaminase deficiency	Adenosine Deaminase Deficiency	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pediatric Obesity	Childhood obesity	BEFREE	2731933		★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	LHGDN	12712614		★☆☆☆☆ Found in Text Mining only
Pericardial effusion	Pericardial effusion	BEFREE	25867228, 28765186		★☆☆☆☆ Found in Text Mining only
Pericarditis	Pericarditis	BEFREE	25867228		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	7473066		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	27863979, 28816530, 28816537		★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	BEFREE	28816530, 28816537		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	27863979		★☆☆☆☆ Found in Text Mining only
Peyronie Disease	Peyronie Disease	BEFREE	19858092		★☆☆☆☆ Found in Text Mining only
Phosphoribosylpyrophosphate Synthetase Superactivity	Phosphoribosylpyrophosphate Synthetase Superactivity	BEFREE	24972650		★☆☆☆☆ Found in Text Mining only
Pleural Diseases	Pleural Diseases	BEFREE	30290034		★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	BEFREE	17852820, 28864369, 29218743, 29793967, 30506166, 31709646		★☆☆☆☆ Found in Text Mining only
Pleurisy	Pleuritis	BEFREE	28460230, 29218743		★☆☆☆☆ Found in Text Mining only
Polyarteritis Nodosa	Polyarteritis Nodosa	BEFREE	24552285		★☆☆☆☆ Found in Text Mining only
POLYARTERITIS NODOSA, CHILDHOOD-ONSET	Polyarteritis Nodosa	BEFREE	25405820		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	26980102, 30394149, 30896318		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	1053696, 30581348, 31282760, 6309282		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	17994430		★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	14499267, 28552805, 29744787, 9211190		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15016824		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	15016824	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	31148859		★☆☆☆☆ Found in Text Mining only
Pulmonary Alveolar Proteinosis	Alveolar proteinosis	BEFREE	24113229		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	27557561	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	26921334		★☆☆☆☆ Found in Text Mining only
Purine-nucleoside phosphorylase deficiency	Purine-Nucleoside Phosphorylase Deficiency	BEFREE	24113229, 618871		★☆☆☆☆ Found in Text Mining only
Reactive Hemophagocytic Syndrome	Reactive Hemophagocytic Syndrome	BEFREE	25764155		★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27414070		★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	30500143		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	30500143		★☆☆☆☆ Found in Text Mining only
Reticulosarcoma	Reticulosarcoma	BEFREE	2752148, 6303563		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	28812413		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	12632419, 20943049, 28160418, 29897007, 30444912		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	30154391		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	29061410		★☆☆☆☆ Found in Text Mining only
SCID Due to ADA Deficiency, Early-Onset	Severe combined immunodeficiency disease	UNIPROT_DG	10200056, 1284479, 2166947, 2783588, 3182793, 3839802, 6208479, 7599635, 8227344, 8299233, 9361033		★☆☆☆☆ Found in Text Mining only
SCID Due to ADA Deficiency, Early-Onset	Severe combined immunodeficiency disease	CLINVAR_DG	10200056, 11160213, 11313286, 1284479, 1346349, 14499267, 16276484, 1680289, 16825284, 17185467, 18952502, 19179314, 19665771, 1974554, 20544538, 21624848, 21664875, 2166947, 22447032, 22764473, 22968453, 23260757, 25525159, 25875700, 25954555, 26255240, 26376800, 27095930, 27129325, 2758612, 2773932, 28266921, 3182793, 3475710, 7554472, 7599635, 8051429, 8178821, 8227344, 8258146, 8401541, 8589684, 8614422, 9108404, 9225964, 9361033, 9414266, 9758612, 9806422		★☆☆☆☆ Found in Text Mining only
SCID Due to ADA Deficiency, Early-Onset	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG	8673127		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	29760157		★☆☆☆☆ Found in Text Mining only
Scleroderma Diffuse	Scleroderma	Pubtator	29760157	Associate	★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	10220258, 10450855, 1061104, 1061119, 1089883, 11060694, 11067872, 11160213, 11162307, 11339359, 12089448, 1246464, 12640448, 1346349, 1401934, 14726805, 15580654, 16276484, 16651028, 16905365, 17181544, 1751590, 18218852, 1848369, 1911929, 19179314, 1939366, 19633200, 19779332, 20493398, 2081198, 2098297, 21142972, 21254403, 21477850, 21664875, 2167185, 21671975, 21725047, 21865538, 22153773, 22543957, 22968453, 23280131, 24113871, 24256635, 24848753, 24925206, 2497184, 2549545, 25875700, 26255240, 26441229, 27129325, 2752148, 2773932, 28074903, 28552805, 28748310, 28812413, 28842866, 28847159, 29355610, 3007108, 30194989, 30565235, 31024866, 3137899, 3366897, 3469459, 3475710, 3521968, 3571974, 3684597, 3946419, 4815083, 6090454, 6134754, 6198631, 6606796, 6933468, 7199090, 7241535, 7371221, 7489356, 7570000, 7570001, 7599635, 7670465, 7691188, 7749407, 8120281, 8178821, 8258146, 8299233, 8399494, 8433875, 8501134, 8589684, 8704221, 8867866, 8939644, 8971410, 9063412, 9108404, 9361033, 9364370, 9801258		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	1061104, 1061119, 1117071, 1577723, 16905365, 18218852, 19179314, 21243617, 23240012, 24506932, 2549545, 29625577, 31781678, 32245326, 32880085, 33974038, 34502390, 3475710, 34777360, 35288820, 35303369, 3684597, 3946419, 6090454, 6198631, 6863546, 6972784, 7489356, 8258146, 8704221, 9414266	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	CLINVAR_DG	19179314, 21664875, 22447032, 26255240, 9758612		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG	27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	29433935, 7380831	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe combined immunodeficiency due to adenosine deaminase deficiency	Severe combined immunodeficiency disease	BEFREE	10720488, 11067872, 11223861, 12456496, 14612670, 15571238, 16651028, 16905365, 17181544, 18218852, 1848369, 18597656, 19179314, 21142972, 21671975, 22184407, 24972650, 27763769, 28319446, 28812413, 28842866, 29355610, 29456531, 29690908, 29744787, 3007108, 30194989, 3469459, 3489233, 3571974, 3684597, 6134754, 6198631, 6840756, 6933468, 7239521, 7371221, 7570001, 7599635, 7691188, 7749407, 8120281, 8290310, 9475605		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe combined immunodeficiency due to adenosine deaminase deficiency	Severe combined immunodeficiency	Pubtator	1117071, 1155449, 11807006, 19179314, 29433935, 33007809, 3475710, 34777360, 3871777, 3946419, 6863546	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe combined immunodeficiency due to adenosine deaminase deficiency	Severe combined immunodeficiency	Pubtator	11807006, 16905365, 16973956, 18218852, 21243617, 2166947, 28346229, 33974038, 3475710, 3489233, 3684597, 3839802, 6134754, 6198631, 6997299, 8023852, 8258146, 9414266	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe combined immunodeficiency due to adenosine deaminase deficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe combined immunodeficiency due to adenosine deaminase deficiency	Severe combined immunodeficiency disease	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe combined immunodeficiency due to adenosine deaminase deficiency	Severe combined immunodeficiency disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe combined immunodeficiency due to adenosine deaminase deficiency	Severe combined immunodeficiency disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe combined immunodeficiency due to adenosine deaminase deficiency	Severe combined immunodeficiency disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe intellectual disability	Mental retardation	BEFREE	16970880		★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	21734253	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	30921217		★☆☆☆☆ Found in Text Mining only
Sneddon Syndrome	Sneddon Syndrome	BEFREE	30645994		★☆☆☆☆ Found in Text Mining only
Spinal Cord Diseases	Spinal Cord Diseases	CTD_human_DG	16325979		★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	28455438		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	30447114		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33892811, 35409173	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	30229863		★☆☆☆☆ Found in Text Mining only
Stupor	Stupor	BEFREE	11254668		★☆☆☆☆ Found in Text Mining only
Symmetrical dyschromatosis of extremities	Symmetrical Dyschromatosis Of Extremities	BEFREE	12916015, 15102079, 15146470, 15659327, 15724015, 16086746, 16917490, 17225010, 19017046, 20186421, 22974014, 23315877, 23621630, 26892242, 29536976		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	29760157		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	10887640		★☆☆☆☆ Found in Text Mining only
Takayasu Arteritis	Takayasu Arteritis	BEFREE	25405820		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	28981846		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	30003836		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	25405820, 26607704, 30565235		★☆☆☆☆ Found in Text Mining only
Vesicular Stomatitis	Vesicular Stomatitis	BEFREE	24925206		★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	24848753, 25860576, 28811575, 31150018		★☆☆☆☆ Found in Text Mining only
X-Linked Combined Immunodeficiency Diseases	Combined Immunodeficiency, X-Linked	BEFREE	16120048, 17917032, 18352845, 25860576, 8298124		★☆☆☆☆ Found in Text Mining only
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C	Xeroderma Pigmentosum	BEFREE	1649389		★☆☆☆☆ Found in Text Mining only