ITPA (inosine triphosphatase)

Gene

• Entrez ID: 3704
• Gene name: Inosine triphosphatase
• Gene symbol: ITPA
• Synonyms (NCBI Gene): C20orf37, DEE35, HLC14-06-P, ITPase, My049, NTPase, dJ794I6.3
• Chromosome: 20
• Chromosome location: 20p13
• Summary: This gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This protein, which is a member of the HAM1 NTPase protein f

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1127354	C>A,G	Affects, drug-response	Missense variant, intron variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs7270101	A>C	Affects, drug-response	Intron variant
rs200086262	G>A	Pathogenic, uncertain-significance	Intron variant, stop gained, coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant
rs376142053	G>A,C	Likely-pathogenic	Splice donor variant, intron variant
rs746930990	C>T	Pathogenic	Synonymous variant, missense variant, coding sequence variant, genic downstream transcript variant, intron variant, non coding transcript variant
rs1227149616	C>T	Pathogenic	Non coding transcript variant, 5 prime UTR variant, stop gained, coding sequence variant
rs1380443187	G>A,C	Pathogenic	Intron variant, splice donor variant, genic downstream transcript variant
rs1381781375	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant
rs1407446171	->TCAGCACC	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1408254396	T>C	Pathogenic	Splice donor variant, intron variant
rs1568509937	->G	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant, frameshift variant
rs1600509558	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048752	hsa-miR-93-5p	CLASH	23622248
MIRT709595	hsa-miR-500b-3p	HITS-CLIP	19536157
MIRT709594	hsa-miR-3918	HITS-CLIP	19536157
MIRT709593	hsa-miR-4685-5p	HITS-CLIP	19536157
MIRT709592	hsa-miR-6837-5p	HITS-CLIP	19536157
MIRT709591	hsa-miR-1915-3p	HITS-CLIP	19536157
MIRT709590	hsa-miR-6764-5p	HITS-CLIP	19536157
MIRT709589	hsa-miR-370-3p	HITS-CLIP	19536157
MIRT709588	hsa-miR-6893-3p	HITS-CLIP	19536157
MIRT709587	hsa-miR-6784-3p	HITS-CLIP	19536157
MIRT709586	hsa-miR-6862-3p	HITS-CLIP	19536157
MIRT709585	hsa-miR-3692-5p	HITS-CLIP	19536157
MIRT709584	hsa-miR-3135b	HITS-CLIP	19536157
MIRT709583	hsa-miR-1287-5p	HITS-CLIP	19536157
MIRT709595	hsa-miR-500b-3p	HITS-CLIP	19536157
MIRT709594	hsa-miR-3918	HITS-CLIP	19536157
MIRT709593	hsa-miR-4685-5p	HITS-CLIP	19536157
MIRT709592	hsa-miR-6837-5p	HITS-CLIP	19536157
MIRT709591	hsa-miR-1915-3p	HITS-CLIP	19536157
MIRT709590	hsa-miR-6764-5p	HITS-CLIP	19536157
MIRT709589	hsa-miR-370-3p	HITS-CLIP	19536157
MIRT709588	hsa-miR-6893-3p	HITS-CLIP	19536157
MIRT709587	hsa-miR-6784-3p	HITS-CLIP	19536157
MIRT709586	hsa-miR-6862-3p	HITS-CLIP	19536157
MIRT709585	hsa-miR-3692-5p	HITS-CLIP	19536157
MIRT709584	hsa-miR-3135b	HITS-CLIP	19536157
MIRT709583	hsa-miR-1287-5p	HITS-CLIP	19536157
MIRT1074602	hsa-miR-2467-5p	CLIP-seq
MIRT1074603	hsa-miR-3188	CLIP-seq
MIRT1074604	hsa-miR-3975	CLIP-seq
MIRT1074605	hsa-miR-4316	CLIP-seq
MIRT1074606	hsa-miR-4710	CLIP-seq
MIRT1074607	hsa-miR-485-5p	CLIP-seq
MIRT1074608	hsa-miR-217	CLIP-seq
MIRT1074609	hsa-miR-3978	CLIP-seq
MIRT1074610	hsa-miR-4261	CLIP-seq
MIRT1074611	hsa-miR-4418	CLIP-seq
MIRT1074612	hsa-miR-4699-3p	CLIP-seq
MIRT1074613	hsa-miR-509-3-5p	CLIP-seq
MIRT1074614	hsa-miR-509-5p	CLIP-seq
MIRT2018415	hsa-miR-4286	CLIP-seq
MIRT2018416	hsa-miR-4326	CLIP-seq
MIRT2018417	hsa-miR-4691-5p	CLIP-seq
MIRT2553970	hsa-miR-1202	CLIP-seq
MIRT2553971	hsa-miR-1224-3p	CLIP-seq
MIRT2553972	hsa-miR-1260	CLIP-seq
MIRT2553973	hsa-miR-1260b	CLIP-seq
MIRT2553974	hsa-miR-1280	CLIP-seq
MIRT2553975	hsa-miR-185	CLIP-seq
MIRT2553976	hsa-miR-2278	CLIP-seq
MIRT2553977	hsa-miR-31	CLIP-seq
MIRT2553978	hsa-miR-3123	CLIP-seq
MIRT2553979	hsa-miR-3972	CLIP-seq
MIRT2553980	hsa-miR-4306	CLIP-seq
MIRT2553981	hsa-miR-4436a	CLIP-seq
MIRT2553982	hsa-miR-4436b-5p	CLIP-seq
MIRT2553983	hsa-miR-4467	CLIP-seq
MIRT2553984	hsa-miR-4519	CLIP-seq
MIRT2553985	hsa-miR-4644	CLIP-seq
MIRT2553986	hsa-miR-4650-5p	CLIP-seq
MIRT2553971	hsa-miR-1224-3p	CLIP-seq
MIRT2553972	hsa-miR-1260	CLIP-seq
MIRT2553973	hsa-miR-1260b	CLIP-seq
MIRT2553974	hsa-miR-1280	CLIP-seq
MIRT2553975	hsa-miR-185	CLIP-seq
MIRT2553976	hsa-miR-2278	CLIP-seq
MIRT2553977	hsa-miR-31	CLIP-seq
MIRT2553978	hsa-miR-3123	CLIP-seq
MIRT2553980	hsa-miR-4306	CLIP-seq
MIRT2553981	hsa-miR-4436a	CLIP-seq
MIRT2553983	hsa-miR-4467	CLIP-seq
MIRT2553984	hsa-miR-4519	CLIP-seq
MIRT2553985	hsa-miR-4644	CLIP-seq
MIRT2553986	hsa-miR-4650-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006193	Process	ITP catabolic process	IEA
GO:0009117	Process	Nucleotide metabolic process	IEA
GO:0009143	Process	Nucleoside triphosphate catabolic process	IBA
GO:0009143	Process	Nucleoside triphosphate catabolic process	IEA
GO:0009204	Process	Deoxyribonucleoside triphosphate catabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0035870	Function	DITP diphosphatase activity	IEA
GO:0036220	Function	ITP diphosphatase activity	IEA
GO:0036222	Function	XTP diphosphatase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	25416956, 32296183
GO:0046872	Function	Metal ion binding	IEA
GO:0047429	Function	Nucleoside triphosphate diphosphatase activity	IBA
GO:0047429	Function	Nucleoside triphosphate diphosphatase activity	IEA
GO:0051276	Process	Chromosome organization	IEA

Other IDs

• MIM: 147520
• HGNC: 6176
• e!Ensembl: ENSG00000125877

Protein

• UniProt ID: Q9BY32
• Protein name: Inosine triphosphate pyrophosphatase (ITPase) (Inosine triphosphatase) (EC 3.6.1.66) (Non-canonical purine NTP pyrophosphatase) (Non-standard purine NTP pyrophosphatase) (Nucleoside-triphosphate diphosphatase) (Nucleoside-triphosphate pyrophosphatase) (NT
• Protein function: Pyrophosphatase that hydrolyzes the non-canonical purine nucleotides inosine triphosphate (ITP), deoxyinosine triphosphate (dITP) as well as 2'-deoxy-N-6-hydroxylaminopurine triphosphate (dHAPTP) and xanthosine 5'-triphosphate (XTP) to their res
• PDB: 2CAR, 2I5D, 2J4E, 4F95
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01725	Ham1p_like	10 → 188	Ham1 family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. Highly expressed in heart, liver, sex glands, thyroid and adrenal gland.
• Sequence:

  MAASLVGKKIVFVTGNAKKLEEVVQILGDKFPCTLVAQKIDLPEYQGEPDEISIQKCQEA
  VRQVQGPVLVEDTCLCFNALGGLPGPYIKWFLEKLKPEGLHQLLAGFEDKSAYALCTFAL
  STGDPSQPVRLFRGRTSGRIVAPRGCQDFGWDPCFQPDGYEQTYAEMPKAEKNAVSHRFR
  ALLELQEYFGSLAA

• Sequence length: 194

Pathways

KEGG:

Purine metabolism
Drug metabolism - other enzymes
Metabolic pathways
Nucleotide metabolism

Reactome:

Purine catabolism

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
Developmental and epileptic encephalopathy, 35	Likely pathogenic; Pathogenic	rs2122396524, rs781254071, rs200086262, rs1407446171, rs2514425313, rs2514425248, rs2514489594, rs2067370892, rs376142053, rs1408254396, rs1600509558, rs2067217104	RCV005038177 RCV002250794 RCV000202318 RCV000202316 RCV003153202 RCV003333815 RCV004442865 RCV004595188 RCV005411569 RCV001824157 RCV000995786 RCV001250241	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypodontia	Likely pathogenic; Pathogenic	rs1407446171	RCV001526600	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Infantile epileptic dyskinetic encephalopathy	Likely pathogenic; Pathogenic	rs2122346498	RCV003226498	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inosine triphosphatase deficiency	Likely pathogenic; Pathogenic	rs2122274245, rs370326110, rs2122396524, rs770956514, rs781254071, rs2122346498, rs2122328391, rs2514423744, rs2514458622, rs2514460185, rs200086262, rs1407446171, rs2514423508, rs2514437642, rs2514423602, rs760003902, rs1227149616, rs1381781375, rs1568509937, rs376142053, rs1408254396	RCV001377224 RCV001385594 RCV001381044 RCV001967002 RCV001977793 RCV001864846 RCV001983851 RCV002867400 RCV002958889 RCV002963272 RCV000640526 RCV001070704 RCV003038563 RCV003630262 RCV003628673 RCV003871549 RCV000554829 RCV000640518 RCV000704637 RCV000800468 RCV000991064 RCV001210109	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs781254071	RCV005925448	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	ClinGen, Disgenet ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS C	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ITPA-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
peginterferon alfa-2b and ribavirin response - Toxicity	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTOPENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ 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	18685564, 20021291, 21545474, 22009189, 22838948, 23029095, 24774509, 25099492, 25120852, 25303517, 26242828, 30474703, 30806759		★☆☆☆☆ Found in Text Mining only
Adenosine deaminase deficiency	Adenosine Deaminase Deficiency	BEFREE	2167185		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	18685564, 20021291, 22009189, 22838948, 25099492, 25120852, 25303517, 30806759		★☆☆☆☆ Found in Text Mining only
Agranulocytosis	Agranulocytosis	BEFREE	19214663		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	20173735, 20637204, 21246582, 21274861, 21503919, 21596633, 21703177, 21817190, 22028438, 22052220, 22158703, 22189977, 22406654, 22430973, 22571903, 22585729, 22809728, 22928901, 23012624, 23139603, 23145809, 23195617, 23199501, 23538996, 23850877, 23933495, 24061202, 24449403, 24519039, 24597694, 24654629, 24750345, 24760000, 25287171, 25713999, 25968438, 26071337, 26104535, 26650626, 26670100, 26991414, 27547881, 27822709, 27956135, 28128521, 28165327, 28339063, 28480960, 28543275, 29660762, 29851985, 30628746, 30817703, 31359493		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	GWASCAT_DG	20637204		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	GWASDB_DG	20637204		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	Pubtator	21274861, 21628662, 22158703, 22406654, 22430973, 22585729, 23012624, 23139603, 23195617, 23538996, 23933495, 23960450, 24061202, 24760000, 25287171, 26030972, 26110293, 26441325, 26650626, 26670100, 26933517, 29660762, 29851985, 34562771	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia Hemolytic	Hemolytic anemia	Pubtator	20547162, 21274861, 21703177, 22158703, 22406654, 22585729, 23933495, 26030972, 26154744, 26441325, 27833958, 28233743, 28723780, 29851985, 30045981	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	20547162, 21274861, 21703177, 22158703, 22189977, 22585729, 23201294, 24022240, 26104535, 26438033, 26441325, 27349952, 27833958, 28198349, 28723780, 29851985		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Hemolytic	Anemia	CTD_human_DG	20547162		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Hemolytic, Acquired	Anemia	CTD_human_DG	20547162		★☆☆☆☆ Found in Text Mining only
Anemia, Microangiopathic	Anemia	CTD_human_DG	20547162		★☆☆☆☆ Found in Text Mining only
Arthralgia	Arthralgia	Pubtator	21961091	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	25240429	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	BEFREE	30760591		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	30760591		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	20367526		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	21703177	Associate	★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	32129147	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27779101	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28099906	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	30856165		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30304447		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	18685564, 20021291, 22009189, 22838948, 25099492, 25120852, 25303517, 29720126, 30598629, 30806759		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	28165327		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	16431304, 16918876, 22225964		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	26224535, 27770805		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	30816001, 30856165		★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	31957018	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	19498443, 27604308		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35	Epileptic encephalopathy	UNIPROT_DG	26224535		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35	Epileptic encephalopathy	ORPHANET_DG	26224535		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35	Epileptic encephalopathy	BEFREE	30816001		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35	Epileptic encephalopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35	Epileptic encephalopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	22760653, 23199501, 28723780		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	23133602	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	29327413		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	25287171	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	23547827		★☆☆☆☆ Found in Text Mining only
Hepatitis Autoimmune	Autoimmune hepatitis	Pubtator	33846471	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	23538996, 26110293, 26154744, 28233743, 28723780, 29660762	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatitis C Chronic	Hepatitis c	Pubtator	20547162, 23012624, 23538996, 23960450, 24760000, 26030972, 26110293, 26441325, 29660762, 32129147, 37904484	Associate	★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	BEFREE	26223482		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	29327413		★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	CTD_human_DG	12384777, 20547162		★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	30816001		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	15167706, 16431304, 16611274, 16918876, 17697198, 19214663, 19960028, 20308917, 21544018, 21961091, 23787247, 26674571, 29327413		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	LHGDN	15571265		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	18662289, 21961091, 27307154, 36707393, 37454061	Associate	★☆☆☆☆ Found in Text Mining only
Inosine Triphosphatase Deficiency	Inosine Triphosphatase Deficiency	UNIPROT_DG	12384777, 12436200		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inosine Triphosphatase Deficiency	Inosine Triphosphatase Deficiency	GENOMICS_ENGLAND_DG	27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inosine Triphosphatase Deficiency	Inosine Triphosphatase Deficiency	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inosine Triphosphatase Deficiency	Inosine Triphosphatase Deficiency	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement	Neurological Disorder With Cataract And Cardiac Involvement	Orphanet			★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	25240429		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	16431304, 20308917, 26360046, 26674571, 30106365		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28165327		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	37904484	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	32129147	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	19129747, 20367526, 23172266		★☆☆☆☆ Found in Text Mining only
Microangiopathic hemolytic anemia	Microangiopathic hemolytic anemia	CTD_human_DG	20547162		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	22384212	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	LHGDN	18685564		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	28128422, 30927276	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	30106365		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	28099906	Associate	★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	18685564, 20021291, 22009189, 23029095, 24774509, 25303517, 26242828, 30474703		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	18685564		★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	22928901, 28543275, 30817703		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	31618474	Associate	★☆☆☆☆ Found in Text Mining only
Severe combined immunodeficiency due to adenosine deaminase deficiency	Severe combined immunodeficiency disease	BEFREE	2167185		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35036435	Associate	★☆☆☆☆ Found in Text Mining only
Sveinsson Chorioretinal Atrophy	Sveinsson chorioretinal atrophy	Pubtator	23960450	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	18662289, 21703177, 27833958	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	BEFREE	16918876		★☆☆☆☆ Found in Text Mining only