ADA2 (adenosine deaminase 2)

Gene

• Entrez ID: 51816
• Gene name: Adenosine deaminase 2
• Gene symbol: ADA2
• Synonyms (NCBI Gene): ADGF, CECR1, IDGFL, PAN, SNEDS, VAIHS
• Chromosome: 22
• Chromosome location: 22q11.1
• Summary: This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from m

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs74317375	C>T	Likely-benign, pathogenic, benign-likely-benign	Coding sequence variant, missense variant
rs77563738	C>G,T	Likely-pathogenic, pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, 5 prime UTR variant
rs139750129	T>C	Pathogenic	Splice acceptor variant
rs146597836	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs148936893	G>A	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant
rs199614299	G>A	Uncertain-significance, pathogenic	Intron variant, genic upstream transcript variant, upstream transcript variant, missense variant, coding sequence variant
rs200930463	C>A,G	Pathogenic	Intron variant, genic upstream transcript variant, upstream transcript variant, missense variant, coding sequence variant
rs202134424	C>A,G,T	Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic	Intron variant, genic upstream transcript variant, upstream transcript variant, missense variant, coding sequence variant
rs376785840	T>C	Pathogenic	Missense variant, coding sequence variant
rs587777240	G>T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs587777241	G>C	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs587777242	C>G	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs747774101	T>C	Pathogenic	Coding sequence variant, missense variant
rs750868279	G>A	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs756881285	C>-,CC	Pathogenic, likely-pathogenic	Intron variant, frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs766602945	GCGT>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant
rs770689762	C>T	Pathogenic	Missense variant, coding sequence variant
rs774963498	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs775440641	T>C	Pathogenic	Missense variant, coding sequence variant
rs1226708979	G>A,C	Likely-pathogenic	Missense variant, synonymous variant, coding sequence variant
rs1489114116	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1568966771	C>T	Pathogenic	Coding sequence variant, stop gained
rs1568968051	T>-	Pathogenic	Intron variant
rs1601419986	TGTAC>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT497202	hsa-miR-3622a-5p	PAR-CLIP	22291592
MIRT454002	hsa-miR-302c-3p	PAR-CLIP	23592263
MIRT454001	hsa-miR-520f-3p	PAR-CLIP	23592263
MIRT454000	hsa-miR-1825	PAR-CLIP	23592263
MIRT453999	hsa-miR-6089	PAR-CLIP	23592263
MIRT453998	hsa-miR-6087	PAR-CLIP	23592263
MIRT453996	hsa-miR-3656	PAR-CLIP	23592263
MIRT453997	hsa-miR-1251-3p	PAR-CLIP	23592263
MIRT453995	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT453994	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT453993	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT453992	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT453991	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT453990	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT453989	hsa-miR-30c-1-3p	PAR-CLIP	23592263
MIRT453988	hsa-miR-30c-2-3p	PAR-CLIP	23592263
MIRT453986	hsa-miR-6788-5p	PAR-CLIP	23592263
MIRT453987	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT453985	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT453984	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT453983	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT453982	hsa-miR-3689c	PAR-CLIP	23592263
MIRT453981	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT453980	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT453979	hsa-miR-450a-1-3p	PAR-CLIP	23592263
MIRT453978	hsa-miR-3122	PAR-CLIP	23592263
MIRT453977	hsa-miR-3913-5p	PAR-CLIP	23592263
MIRT453976	hsa-miR-887-5p	PAR-CLIP	23592263
MIRT453975	hsa-miR-6513-5p	PAR-CLIP	23592263

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004000	Function	Adenosine deaminase activity	IBA
GO:0004000	Function	Adenosine deaminase activity	IDA	20147294
GO:0004000	Function	Adenosine deaminase activity	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	20147294
GO:0005615	Component	Extracellular space	IEA
GO:0006154	Process	Adenosine catabolic process	IBA
GO:0006154	Process	Adenosine catabolic process	IDA	20147294
GO:0006154	Process	Adenosine catabolic process	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0008083	Function	Growth factor activity	NAS	10756095
GO:0008201	Function	Heparin binding	IEA
GO:0008270	Function	Zinc ion binding	IDA	20147294
GO:0016787	Function	Hydrolase activity	IEA
GO:0019239	Function	Deaminase activity	IEA
GO:0031685	Function	Adenosine receptor binding	IDA	20147294
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0042803	Function	Protein homodimerization activity	IPI	20147294
GO:0043394	Function	Proteoglycan binding	IDA	20147294
GO:0046103	Process	Inosine biosynthetic process	IBA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 607575
• HGNC: 1839
• e!Ensembl: ENSG00000093072

Protein

• UniProt ID: Q9NZK5
• Protein name: Adenosine deaminase 2 (EC 3.5.4.4) (Cat eye syndrome critical region protein 1)
• Protein function: Adenosine deaminase that may contribute to the degradation of extracellular adenosine, a signaling molecule that controls a variety of cellular responses. Requires elevated adenosine levels for optimal enzyme activity. Binds to cell surfaces via
• PDB: 3LGD, 3LGG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08451	A_deaminase_N	12 → 102	Adenosine/AMP deaminase N-terminal	Family
  PF00962	A_deaminase	174 → 496	Adenosine/AMP deaminase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in blood plasma (at protein level). Widely expressed, with most abundant expression in human adult heart, lung, lymphoblasts, and placenta as well as fetal lung, liver, and kidney. In embryo, expressed in the outflow tract and
• Sequence:

  MLVDGPSERPALCFLLLAVAMSFFGSALSIDETRAHLLLKEKMMRLGGRLVLNTKEELAN
  ERLMTLKIAEMKEAMRTLIFPPSMHFFQAKHLIERSQVFNILRMMPKGAALHLHDIGIVT
  MDWLVRNVTYRPHCHICFTPRGIMQFRFAHPTPRPSEKCSKWILLEDYRKRVQNVTEFDD
  SLLRNFTLVTQHPEVIYTNQNVVWSKFETIFFTISGLIHYAPVFRDYVFRSMQEFYEDNV
  LYMEIRARLLPVYELSGEHHDEEWSVKTYQEVAQKFVETHPEFIGIKIIYSDHRSKDVAV
  IAESIRMAMGLRIKFPTVVAGFDLVGHEDTGHSLHDYKEALMIPAKDGVKLPYFFHAGET
  DWQGTSIDRNILDALMLNTTRIGHGFALSKHPAVRTYSWKKDIPIEVCPISNQVLKLVSD
  LRNHPVATLMATGHPMVISSDDPAMFGAKGLSYDFYEVFMGIGGMKADLRTLKQLAMNSI
  KYSTLLESEKNTFMEIWKKRWDKFIADVATK

• Sequence length: 511

Pathways

KEGG:

Purine metabolism
Metabolic pathways
Nucleotide metabolism

Reactome:

Surfactant metabolism
Neutrophil degranulation

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
ADA2-related disorder	Pathogenic; Likely pathogenic	rs202134424, rs200930463, rs77563738, rs1300843648, rs45511697, rs139750129	RCV003399212 RCV004751262 RCV003945041 RCV004731219 RCV003419802 RCV003411545	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autoinflammatory syndrome	Pathogenic; Likely pathogenic	rs202134424, rs376785840, rs587777241, rs77563738, rs754904956	RCV002264292 RCV002262702 RCV002262703 RCV002262704 RCV002262705 RCV002264175	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deficiency of adenosine deaminase 2	Likely pathogenic	rs772909795	RCV003459015	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Likely pathogenic; Pathogenic	rs766602945	RCV005870887	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inherited Immunodeficiency Diseases	Likely pathogenic; Pathogenic	rs77563738, rs1489114116	RCV001027542 RCV001027541	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs139750129	RCV005900316	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sneddon syndrome	Likely pathogenic; Pathogenic	rs748893301, rs2062064773, rs202134424, rs2123699776, rs376785840, rs200930463, rs77563738, rs148936893, rs768987774, rs369924229, rs2517346966, rs775440641, rs770689762, rs2231487, rs139750129, rs756881285, rs766602945, rs1489114116, rs754904956, rs368615054, rs775997344	RCV001328777 RCV001336346 RCV001535952 RCV001523887 RCV002477260 RCV002483175 RCV001536077 RCV002498474 RCV005025173 RCV002505023 RCV005031872 RCV005023385 RCV005025743 RCV000169758 RCV000169759 RCV005036978 RCV002499121 RCV002477652 RCV002477827 RCV002487649 RCV002497346 RCV005029656 RCV002482017 RCV005029797	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Splenomegaly	Likely pathogenic; Pathogenic	rs756881285	RCV000714239	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vasculitis due to ADA2 deficiency	Likely pathogenic; Pathogenic	rs748893301, rs2062095528, rs202134424, rs376785840, rs587777240, rs200930463, rs587777241, rs77563738, rs148936893, rs587777242, rs2062393838, rs745795188, rs768987774, rs1452477558, rs1300843648, rs2123651193, rs773226219, rs369924229, rs772909795, rs2517346966, rs2517294688, rs775440641, rs770689762, rs2231487, rs2517274830, rs1568988719, rs2517294181, rs778965407, rs2517360414, rs2517294264, rs2517379776, rs2517361483, rs2517360088, rs2517276433, rs2517345941, rs2062365477, rs1212466958, rs749240880, rs2517274947, rs45511697, rs139750129, rs756881285, rs747774101, rs1568966771, rs766602945, rs1601419986, rs1489114116, rs754904956, rs755007390, rs368615054, rs2062392148, rs2062118599, rs2061972270, rs775997344, rs752890414	RCV003583195 RCV001328779 RCV001390131 RCV000106380 RCV000106381 RCV000106382 RCV000106383 RCV000106384 RCV000106385 RCV000106386 RCV000106387 RCV000106388 RCV001706871 RCV001706872 RCV001942886 RCV001981686 RCV002005471 RCV001937728 RCV001980451 RCV001969417 RCV001896413 RCV001986460 RCV002468948 RCV003041402 RCV000851530 RCV001386673 RCV003111981 RCV002576984 RCV002597026 RCV002690133 RCV002761291 RCV002837548 RCV002858202 RCV003226027 RCV003746726 RCV003747433 RCV003746465 RCV003746441 RCV003747562 RCV003831484 RCV003843070 RCV003988702 RCV003990028 RCV001067680 RCV000652053 RCV000652057 RCV000810595 RCV001218334 RCV003768300 RCV000799257 RCV000793011 RCV000984922 RCV001328776 RCV001066294 RCV001069829 RCV001057009 RCV001204634 RCV001218383 RCV001235007 RCV001229165 RCV001267735	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, DIAMOND-BLACKFAN	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet disease	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deficiency of ADA2	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIAMOND-BLACKFAN ANEMIA	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ 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
Germ cell tumor of testis	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULITIS DUE TO ADENOSINE DEAMINASE 2 DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aase Smith syndrome 2	Aase-Smith syndrome	ORPHANET_DG	30503522		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenosine deaminase deficiency	Adenosine Deaminase Deficiency	BEFREE	29963054, 30610243, 30645994, 31043544		★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic Autoimmune	Autoimmune hemolytic anemia	Pubtator	34845942	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Hypoplastic Congenital	Congenital hypoplastic anemia	Pubtator	30559313	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Diamond-Blackfan	Anemia	GENOMICS_ENGLAND_DG	24552284, 30503522		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan	Anemia	ORPHANET_DG	30503522		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan	Anemia	BEFREE	31043544		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan	Anemia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Macrocytic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	30659040		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	30659040		★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	20943049	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	16754522		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	11121182		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	28830446	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome	Autoimmune Lymphoproliferative Disorder	BEFREE	29271561		★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome	Autoimmune lymphoproliferative disorder	Pubtator	30692987	Associate	★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	GENOMICS_ENGLAND_DG	29564582		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	25405820		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet disease	Pubtator	30808881, 31856934	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blackfan-Diamond anemia	Blackfan-Diamond Anemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	30692987	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	28974505	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms Male	Male breast neoplasms	Pubtator	36614261	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	32315343	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	21551254	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37171396	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30659040		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35663977	Associate	★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	35663977	Associate	★☆☆☆☆ Found in Text Mining only
Cat eye syndrome	Cat Eye Syndrome	BEFREE	10756095, 11381032, 23747353		★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	28522451	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	28974505	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	24552284, 26867732, 28582318, 31008556		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	28582318		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	20590444		★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG	29564582		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	10756095, 29246335		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	17287605		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	17287605		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	17287605		★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	BEFREE	29271561		★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★☆☆☆☆ Found in Text Mining only
deficiency of adenosine deaminase 2	Adenosine deaminase 2 deficiency	Pubtator	25278816, 30692987, 31916720, 36248833	Inhibit	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
deficiency of adenosine deaminase 2	Adenosine deaminase 2 deficiency	Pubtator	28522451, 28830446, 28974505, 30503522, 31015188, 31856934, 31945408, 31974608, 33757531, 34361096, 34577178, 34721429, 34845942, 36248833, 36807221, 37721348	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deficiency of mevalonate kinase	Deficiency Of Mevalonate Kinase	BEFREE	30783801		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	12632419		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	23685153, 25815338, 28170537, 28321313		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	23685153, 25815338, 28170537, 28321313		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	28170537	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	20480728		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10459555		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	23685153, 28170537		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	28170537	Associate	★☆☆☆☆ Found in Text Mining only
Diamond-Blackfan Anemia 1	Diamond-Blackfan anemia	GENOMICS_ENGLAND_DG	30503522		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	32315343	Associate	★☆☆☆☆ Found in Text Mining only
Erythema Nodosum	Erythema nodosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	35663977	Stimulate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	33789967	Associate	★☆☆☆☆ Found in Text Mining only
Evans syndrome	Evans Syndrome	GENOMICS_ENGLAND_DG	29564582		★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	29556761		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35663977	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	19965895, 28453746, 30323894		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28453746, 28534507	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	31945408, 34845942	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	30192643	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	15926889	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29370277		★☆☆☆☆ Found in Text Mining only
Intracranial Hemorrhages	Intracranial hemorrhage	Pubtator	28974505	Associate	★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	15861127, 30383841		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	30042204		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	3140911	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	3140911	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	35663977	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	24552284, 29564582		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	34706243	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	2691733		★☆☆☆☆ Found in Text Mining only
Macrophage Activation Syndrome	Macrophage Activation Syndrome	BEFREE	31707357		★☆☆☆☆ Found in Text Mining only
Majeed syndrome	Majeed Syndrome	BEFREE	30783801		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	28453746, 28534507		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30659040		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	28105537		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	30403833		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27392476, 27519690, 30042204		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	20590444		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	35663977	Stimulate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	15830375	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muckle-Wells Syndrome	Muckle-Wells Syndrome	BEFREE	30783801		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	25405820		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	27550239		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	27519690		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	30042204		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18043035, 19808643, 2691733, 30403833, 8751593		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	24552284, 29564582		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	30692987, 34845942	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22522453		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	10459555		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	36248833	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28105537		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32729306, 35663977	Associate	★☆☆☆☆ Found in Text Mining only
Panniculitis	Panniculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	34101221	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyarteritis Nodosa	Polyarteritis Nodosa	GENOMICS_ENGLAND_DG	24552284, 29564582, 3471198		★☆☆☆☆ Found in Text Mining only
Polyarteritis Nodosa	Polyarteritis Nodosa	BEFREE	24552285, 24737293, 27059682, 28490787, 28547523, 28582318, 29271561, 29391272, 29624883, 30552566, 31043544		★☆☆☆☆ Found in Text Mining only
POLYARTERITIS NODOSA, CHILDHOOD-ONSET	Polyarteritis Nodosa	CLINVAR_DG	24552284, 24552285, 25888558, 26867732, 27059682, 27252897, 28493328, 28522451, 28983775, 29951947		★☆☆☆☆ Found in Text Mining only
POLYARTERITIS NODOSA, CHILDHOOD-ONSET	Polyarteritis Nodosa	GENOMICS_ENGLAND_DG	24552284, 29564582		★☆☆☆☆ Found in Text Mining only
POLYARTERITIS NODOSA, CHILDHOOD-ONSET	Polyarteritis Nodosa	UNIPROT_DG	24552284, 24552285		★☆☆☆☆ Found in Text Mining only
POLYARTERITIS NODOSA, CHILDHOOD-ONSET	Polyarteritis Nodosa	ORPHANET_DG	24552284, 24552285		★☆☆☆☆ Found in Text Mining only
POLYARTERITIS NODOSA, CHILDHOOD-ONSET	Polyarteritis Nodosa	BEFREE	24737293, 25405820, 27059682, 29391272, 31008556, 31584751		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	26980102		★☆☆☆☆ Found in Text Mining only
Raynaud Phenomenon	Raynaud Phenomenon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	12632419, 20943049		★☆☆☆☆ Found in Text Mining only
Sarcoma Clear Cell	Sarcoma	Pubtator	32034283	Associate	★☆☆☆☆ Found in Text Mining only
Severe combined immunodeficiency due to adenosine deaminase deficiency	Severe combined immunodeficiency	Pubtator	28522451	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	16970880		★☆☆☆☆ Found in Text Mining only
Sneddon Syndrome	Sneddon Syndrome	UNIPROT_DG	25075847		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sneddon Syndrome	Sneddon Syndrome	ORPHANET_DG	25075847, 25551694		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sneddon syndrome	Sneddon Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sneddon Syndrome	Sneddon Syndrome	BEFREE	30645994		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sneddon Syndrome	Sneddon Syndrome	GENOMICS_ENGLAND_DG	3471198		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sneddon Syndrome	Sneddon Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sneddon Syndrome	Sneddon Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35663977	Associate	★☆☆☆☆ Found in Text Mining only
STING-associated vasculopathy with onset in infancy	STING-ASSOCIATED VASCULOPATHY	BEFREE	30783801		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35663977	Stimulate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	25278816, 28522451, 32106772, 36248833	Associate	★☆☆☆☆ Found in Text Mining only
Systemic onset juvenile chronic arthritis	Arthritis	BEFREE	31707357		★☆☆☆☆ Found in Text Mining only
Takayasu Arteritis	Takayasu Arteritis	BEFREE	25405820		★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thromboembolic stroke	Thromboembolic stroke	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	28140525		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	24552284, 24552285, 24737293, 29271561, 30552566		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	25278816	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	24552284, 25405820, 26607704, 28024309, 28516235, 29103427, 29271561, 30565235, 31008556, 31015188, 31599797		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	24552285, 25278816, 31945408	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vasculitis due to ADA2 deficiency	Vasculitis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wilms Tumor	Wilms tumor	Pubtator	15543376	Associate	★☆☆☆☆ Found in Text Mining only