ATIC (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase)

Gene

• Entrez ID: 471
• Gene name: 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
• Gene symbol: ATIC
• Synonyms (NCBI Gene): AICAR, AICARFT, HEL-S-70p, IMPCHASE, PURH
• Chromosome: 2
• Chromosome location: 2q35
• Summary: This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohyd

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs4673993	T>A,C,G	Drug-response	Intron variant
rs121434478	A>G	Pathogenic	Coding sequence variant, missense variant
rs755898039	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1389373911	A>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT038893	hsa-miR-93-3p	CLASH	23622248
MIRT035935	hsa-miR-1180-3p	CLASH	23622248
MIRT650595	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT650594	hsa-miR-9500	HITS-CLIP	23824327
MIRT650593	hsa-miR-4802-5p	HITS-CLIP	23824327
MIRT650592	hsa-miR-1323	HITS-CLIP	23824327
MIRT650591	hsa-miR-548o-3p	HITS-CLIP	23824327
MIRT650590	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT650589	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT650588	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT650587	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT650586	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT650585	hsa-miR-1249-5p	HITS-CLIP	23824327
MIRT650583	hsa-miR-6797-5p	HITS-CLIP	23824327
MIRT650584	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT650582	hsa-miR-6515-5p	HITS-CLIP	23824327
MIRT650581	hsa-miR-4263	HITS-CLIP	23824327
MIRT650580	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT450592	hsa-miR-130b-5p	PAR-CLIP	22100165
MIRT450591	hsa-miR-942-5p	PAR-CLIP	22100165
MIRT450590	hsa-miR-4645-3p	PAR-CLIP	22100165
MIRT450588	hsa-miR-3682-3p	PAR-CLIP	22100165
MIRT450589	hsa-miR-4753-3p	PAR-CLIP	22100165
MIRT450587	hsa-miR-6809-3p	PAR-CLIP	22100165
MIRT450586	hsa-miR-520d-3p	PAR-CLIP	22100165
MIRT650595	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT650594	hsa-miR-9500	HITS-CLIP	23824327
MIRT650593	hsa-miR-4802-5p	HITS-CLIP	23824327
MIRT650592	hsa-miR-1323	HITS-CLIP	23824327
MIRT650591	hsa-miR-548o-3p	HITS-CLIP	23824327
MIRT650590	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT650589	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT650588	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT650587	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT650586	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT650585	hsa-miR-1249-5p	HITS-CLIP	23824327
MIRT650583	hsa-miR-6797-5p	HITS-CLIP	23824327
MIRT650584	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT650582	hsa-miR-6515-5p	HITS-CLIP	23824327
MIRT650581	hsa-miR-4263	HITS-CLIP	23824327
MIRT650580	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT450592	hsa-miR-130b-5p	PAR-CLIP	22100165
MIRT450591	hsa-miR-942-5p	PAR-CLIP	22100165
MIRT450590	hsa-miR-4645-3p	PAR-CLIP	22100165
MIRT450588	hsa-miR-3682-3p	PAR-CLIP	22100165
MIRT450589	hsa-miR-4753-3p	PAR-CLIP	22100165
MIRT450587	hsa-miR-6809-3p	PAR-CLIP	22100165
MIRT450586	hsa-miR-520d-3p	PAR-CLIP	22100165
MIRT1937939	hsa-miR-134	CLIP-seq
MIRT1937940	hsa-miR-3118	CLIP-seq
MIRT1937941	hsa-miR-943	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003360	Process	Brainstem development	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0003937	Function	IMP cyclohydrolase activity	IBA
GO:0003937	Function	IMP cyclohydrolase activity	IDA	26588576
GO:0003937	Function	IMP cyclohydrolase activity	IEA
GO:0003937	Function	IMP cyclohydrolase activity	TAS	8567683
GO:0004643	Function	Phosphoribosylaminoimidazolecarboxamide formyltransferase activity	IBA
GO:0004643	Function	Phosphoribosylaminoimidazolecarboxamide formyltransferase activity	IEA
GO:0004643	Function	Phosphoribosylaminoimidazolecarboxamide formyltransferase activity	TAS	8567683
GO:0005737	Component	Cytoplasm	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:0006139	Process	Nucleobase-containing compound metabolic process	TAS	8567683
GO:0006164	Process	Purine nucleotide biosynthetic process	IEA
GO:0006177	Process	GMP biosynthetic process	IDA	26588576
GO:0006177	Process	GMP biosynthetic process	IEA
GO:0006189	Process	'de novo' IMP biosynthetic process	IBA
GO:0006189	Process	'de novo' IMP biosynthetic process	IDA	26588576
GO:0006189	Process	'de novo' IMP biosynthetic process	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016740	Function	Transferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0021549	Process	Cerebellum development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0031100	Process	Animal organ regeneration	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	14756553, 14966129
GO:0044208	Process	'de novo' AMP biosynthetic process	IDA	26588576
GO:0044208	Process	'de novo' AMP biosynthetic process	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0046452	Process	Dihydrofolate metabolic process	IEA
GO:0046654	Process	Tetrahydrofolate biosynthetic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 23533145
GO:0097294	Process	'de novo' XMP biosynthetic process	IDA	26588576
GO:0097294	Process	'de novo' XMP biosynthetic process	IEA
GO:0098761	Process	Cellular response to interleukin-7	IEA

Other IDs

• MIM: 601731
• HGNC: 794
• e!Ensembl: ENSG00000138363

Protein

• UniProt ID: P31939
• Protein name: Bifunctional purine biosynthesis protein ATIC (AICAR transformylase/inosine monophosphate cyclohydrolase) (ATIC) [Cleaved into: Bifunctional purine biosynthesis protein ATIC, N-terminally processed] [Includes: Phosphoribosylaminoimidazolecarboxamide formy
• Protein function: Bifunctional enzyme that catalyzes the last two steps of purine biosynthesis (PubMed:11948179, PubMed:14756554). Acts as a transformylase that incorporates a formyl group to the AMP analog AICAR (5-amino-1-(5-phospho-beta-D-ribosyl)imidazole-4-c
• PDB: 1P4R, 1PKX, 1PL0, 5UY8, 5UZ0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02142	MGS	16 → 130	MGS-like domain	Domain
  PF01808	AICARFT_IMPCHas	135 → 461	AICARFT/IMPCHase bienzyme	Family

• Tissue specificity: TISSUE SPECIFICITY: Present in the heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas. {ECO:0000269|PubMed:9378707}.
• Sequence:

  MAPGQLALFSVSDKTGLVEFARNLTALGLNLVASGGTAKALRDAGLAVRDVSELTGFPEM
  LGGRVKTLHPAVHAGILARNIPEDNADMARLDFNLIRVVACNLYPFVKTVASPGVTVEEA
  VEQIDIGGVTLLRAAAKNHARVTVVCEPEDYVVVSTEMQSSESKDTSLETRRQLALKAFT
  HTAQYDEAISDYFRKQYSKGVSQMPLRYGMNPHQTPAQLYTLQPKLPITVLNGAPGFINL
  CDALNAWQLVKELKEALGIPAAASFKHVSPAGAAVGIPLSEDEAKVCMVYDLYKTLTPIS
  AAYARARGADRMSSFGDFVALSDVCDVPTAKIISREVSDGIIAPGYEEEALTILSKKKNG
  NYCVLQMDQSYKPDENEVRTLFGLHLSQKRNNGVVDKSLFSNVVTKNKDLPESALRDLIV
  ATIAVKYTQSNSVCYAKNGQVIGIGAGQQSRIHCTRLAGDKANYWWLRHHPQVLSMKFKT
  GVKRAEISNAIDQYVTGTIGEDEDLIKWKALFEEVPELLTEAEKKEWVEKLTEVSISSDA
  FFPFRDNVDRAKRSGVAYIAAPSGSAADKVVIEACDELGIILAHTNLRLFHH

• Sequence length: 592

Pathways

KEGG:

Purine metabolism
One carbon pool by folate
Metabolic pathways
Antifolate resistance

Reactome:

Purine ribonucleoside monophosphate biosynthesis

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
AICA-ribosiduria	Pathogenic; Likely pathogenic	rs2105985030, rs1389373911, rs755898039	RCV000008254 RCV000824901 RCV000987028	★★★★☆ 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
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATIC-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLINDNESS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLINDNESS AND LOW VISION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	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
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
methotrexate response - Efficacy	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	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	21262957		★☆☆☆☆ Found in Text Mining only
Adenylosuccinate lyase deficiency (disorder)	Adenylosuccinate Lyase Deficiency	BEFREE	22180458		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	21262957		★☆☆☆☆ Found in Text Mining only
AICA-ribosiduria	Inborn Disorder Of Purine Metabolism	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency	AICAR transformylase/IMP cyclohydrolase deficiency	ORPHANET_DG	15114530		★☆☆☆☆ Found in Text Mining only
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency	AICAR transformylase/IMP cyclohydrolase deficiency	CTD_human_DG	15114530		★☆☆☆☆ Found in Text Mining only
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency	AICAR transformylase/IMP cyclohydrolase deficiency	GENOMICS_ENGLAND_DG	15114530		★☆☆☆☆ Found in Text Mining only
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency	AICAR transformylase/IMP cyclohydrolase deficiency	UNIPROT_DG	15114530		★☆☆☆☆ Found in Text Mining only
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency	AICAR transformylase/IMP cyclohydrolase deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Amaurosis	Amaurosis	CTD_human_DG	15114530		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28455001		★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	25240429	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	22450926, 24967362, 27770044, 33482886, 34902228, 35831345	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28455001		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	29048631		★☆☆☆☆ Found in Text Mining only
Blindness, Acquired	Blindness	CTD_human_DG	15114530		★☆☆☆☆ Found in Text Mining only
Blindness, Legal	Blindness	CTD_human_DG	15114530		★☆☆☆☆ Found in Text Mining only
Blindness, Monocular	Blindness	CTD_human_DG	15114530		★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26143491, 26919657, 29504069		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22764122	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29246230, 32807131, 33778066, 34803509, 35854246	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	29048631		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	17212587		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	17212587		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	21262957		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	27244599		★☆☆☆☆ Found in Text Mining only
Congenital blindness	Congenital blindness	BEFREE	15114530		★☆☆☆☆ Found in Text Mining only
Congenital blindness	Congenital blindness	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20948309		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27611085		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27611085		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	30987676		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29222348		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	30721324		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	24474794		★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	37884559	Associate	★☆☆☆☆ Found in Text Mining only
HERMANSKY-PUDLAK SYNDROME 5	Hermansky-Pudlak Syndrome	BEFREE	30977277		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	27611085, 28955248		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28473772		★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Myofibroblastic Tumor	Inflammatory Myofibroblastic Tumor	BEFREE	12939746, 27846861		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	30987676		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	21515602		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	10702393, 10706887, 11395396, 12112524		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	27611085		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	25607838		★☆☆☆☆ Found in Text Mining only
Lesch-Nyhan Syndrome	Lesch-Nyhan Syndrome	BEFREE	25612837		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	21262957		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25058527		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	30721324		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	10706887		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	10706887		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	15114530	Associate	★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26143491, 26919657, 29504069		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	29546654		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	29048631		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24474794, 27783307		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	17212587		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	37515398	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10706887, 17638885, 25823786, 29730476, 31358902		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	30927276	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28180061		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	CTD_human_DG	18924182		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis, Age-Related	Osteoporosis	CTD_human_DG	18924182		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	CTD_human_DG	18924182		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	24005536, 28267080		★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	BEFREE	30721324		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Osteoporosis	Osteoporosis	CTD_human_DG	18924182		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20948309		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	15457444		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	19193698		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	25084201, 26799664, 27885916		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Right Ventricular Hypertrophy	Ventricular hypertrophy	BEFREE	24566685		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28455001		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	29546654		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	29546654		★☆☆☆☆ Found in Text Mining only
Vascular Malformation Primary Intraosseous	Vascular malformation	Pubtator	27846861	Associate	★☆☆☆☆ Found in Text Mining only