SLC25A21 (solute carrier family 25 member 21)

Gene

• Entrez ID: 89874
• Gene name: Solute carrier family 25 member 21
• Gene symbol: SLC25A21
• Synonyms (NCBI Gene): MTDPS18, ODC, ODC1
• Chromosome: 14
• Chromosome location: 14q13.3
• Summary: SLC25A21 is a homolog of the S. cerevisiae ODC proteins, mitochondrial carriers that transport C5-C7 oxodicarboxylates across inner mitochondrial membranes. One of the species transported by ODC is 2-oxoadipate, a common intermediate in the catabolism of

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1389068504	T>C	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT710658	hsa-miR-4666a-3p	HITS-CLIP	19536157
MIRT710657	hsa-miR-4289	HITS-CLIP	19536157
MIRT710656	hsa-miR-3611	HITS-CLIP	19536157
MIRT710655	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT495812	hsa-miR-3148	PAR-CLIP	22291592
MIRT495811	hsa-miR-4668-5p	PAR-CLIP	22291592
MIRT495812	hsa-miR-3148	PAR-CLIP	22291592
MIRT495811	hsa-miR-4668-5p	PAR-CLIP	22291592
MIRT495810	hsa-miR-625-5p	PAR-CLIP	22291592
MIRT710658	hsa-miR-4666a-3p	HITS-CLIP	19536157
MIRT710657	hsa-miR-4289	HITS-CLIP	19536157
MIRT710656	hsa-miR-3611	HITS-CLIP	19536157
MIRT710655	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT495812	hsa-miR-3148	PAR-CLIP	22291592
MIRT495811	hsa-miR-4668-5p	PAR-CLIP	22291592
MIRT495812	hsa-miR-3148	PAR-CLIP	22291592
MIRT495811	hsa-miR-4668-5p	PAR-CLIP	22291592
MIRT495810	hsa-miR-625-5p	PAR-CLIP	22291592
MIRT1355593	hsa-miR-1253	CLIP-seq
MIRT1355594	hsa-miR-298	CLIP-seq
MIRT1355595	hsa-miR-3618	CLIP-seq
MIRT1355596	hsa-miR-4433	CLIP-seq
MIRT1355597	hsa-miR-4434	CLIP-seq
MIRT1355598	hsa-miR-4459	CLIP-seq
MIRT1355599	hsa-miR-4516	CLIP-seq
MIRT1355600	hsa-miR-4768-3p	CLIP-seq
MIRT1355601	hsa-miR-4802-3p	CLIP-seq
MIRT1355602	hsa-miR-130a	CLIP-seq
MIRT1355603	hsa-miR-130b	CLIP-seq
MIRT1355604	hsa-miR-301a	CLIP-seq
MIRT1355605	hsa-miR-301b	CLIP-seq
MIRT1355606	hsa-miR-3152-3p	CLIP-seq
MIRT1355607	hsa-miR-3591-5p	CLIP-seq
MIRT1355608	hsa-miR-3653	CLIP-seq
MIRT1355609	hsa-miR-3658	CLIP-seq
MIRT1355610	hsa-miR-3666	CLIP-seq
MIRT1355611	hsa-miR-3673	CLIP-seq
MIRT1355612	hsa-miR-4282	CLIP-seq
MIRT1355613	hsa-miR-4295	CLIP-seq
MIRT1355614	hsa-miR-4325	CLIP-seq
MIRT1355615	hsa-miR-4473	CLIP-seq
MIRT1355616	hsa-miR-454	CLIP-seq
MIRT1355617	hsa-miR-4671-3p	CLIP-seq
MIRT1355618	hsa-miR-4799-5p	CLIP-seq
MIRT1355619	hsa-miR-578	CLIP-seq
MIRT1355620	hsa-miR-581	CLIP-seq
MIRT1922378	hsa-miR-4666-3p	CLIP-seq
MIRT1355593	hsa-miR-1253	CLIP-seq
MIRT1355596	hsa-miR-4433	CLIP-seq
MIRT1355597	hsa-miR-4434	CLIP-seq
MIRT1355598	hsa-miR-4459	CLIP-seq
MIRT1355599	hsa-miR-4516	CLIP-seq
MIRT1355600	hsa-miR-4768-3p	CLIP-seq
MIRT2329883	hsa-miR-1236	CLIP-seq
MIRT2329884	hsa-miR-3907	CLIP-seq
MIRT2329885	hsa-miR-409-3p	CLIP-seq
MIRT2329886	hsa-miR-4652-3p	CLIP-seq
MIRT2329887	hsa-miR-4778-3p	CLIP-seq
MIRT2442634	hsa-miR-2276	CLIP-seq
MIRT2442635	hsa-miR-4708-3p	CLIP-seq
MIRT2442636	hsa-miR-556-3p	CLIP-seq
MIRT2459589	hsa-miR-3129-3p	CLIP-seq
MIRT2459590	hsa-miR-3647-3p	CLIP-seq
MIRT2459591	hsa-miR-409-5p	CLIP-seq
MIRT2459592	hsa-miR-4428	CLIP-seq
MIRT2459593	hsa-miR-490-3p	CLIP-seq
MIRT2459594	hsa-miR-499-3p	CLIP-seq
MIRT2459595	hsa-miR-499a-3p	CLIP-seq
MIRT2459596	hsa-miR-548a-3p	CLIP-seq
MIRT2459597	hsa-miR-548e	CLIP-seq
MIRT2459598	hsa-miR-548f	CLIP-seq
MIRT2459599	hsa-miR-649	CLIP-seq
MIRT2442634	hsa-miR-2276	CLIP-seq
MIRT2442635	hsa-miR-4708-3p	CLIP-seq
MIRT2442636	hsa-miR-556-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006554	Process	Lysine catabolic process	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0015139	Function	Alpha-ketoglutarate transmembrane transporter activity	IDA	11083877
GO:0015139	Function	Alpha-ketoglutarate transmembrane transporter activity	IMP	29517768
GO:0015139	Function	Alpha-ketoglutarate transmembrane transporter activity	TAS
GO:0015297	Function	Antiporter activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:1990550	Process	Mitochondrial alpha-ketoglutarate transmembrane transport	IC	11083877
GO:1990550	Process	Mitochondrial alpha-ketoglutarate transmembrane transport	IMP	29517768

Other IDs

• MIM: 607571
• HGNC: 14411
• e!Ensembl: ENSG00000183032

Protein

• UniProt ID: Q9BQT8
• Protein name: Mitochondrial 2-oxodicarboxylate carrier (ODC) (Mitochondrial 2-oxoadipate carrier) (Solute carrier family 25 member 21)
• Protein function: Transports dicarboxylates across the inner membranes of mitochondria by a counter-exchange mechanism (PubMed:11083877). Can transport 2-oxoadipate (2-oxohexanedioate), 2-oxoglutarate, adipate (hexanedioate), glutarate, and to a lesser extent, pi
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00153	Mito_carr	11 → 104	Mitochondrial carrier protein	Family
  PF00153	Mito_carr	107 → 201	Mitochondrial carrier protein	Family
  PF00153	Mito_carr	204 → 299	Mitochondrial carrier protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in placenta, gall bladder and colon. {ECO:0000269|PubMed:11083877}.
• Sequence:

  MSAKPEVSLVREASRQIVAGGSAGLVEICLMHPLDVVKTRFQIQRCATDPNSYKSLVDSF
  RMIFQMEGLFGFYKGILPPILAETPKRAVKFFTFEQYKKLLGYVSLSPALTFAIAGLGSG
  LTEAIVVNPFEVVKVGLQANRNTFAEQPSTVGYARQIIKKEGWGLQGLNKGLTATLGRHG
  VFNMVYFGFYYNVKNMIPVNKDPILEFWRKFGIGLLSGTIASVINIPFDVAKSRIQGPQP
  VPGEIKYRTCFKTMATVYQEEGILALYKGLLPKIMRLGPGGAVMLLVYEYTYSWLQENW

• Sequence length: 299

Pathways

Reactome:

Lysine 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
Mitochondrial DNA depletion syndrome 18	Pathogenic	rs200963388, rs1389068504	RCV002250844 RCV001027733	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARRETT'S ESOPHAGUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ 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 GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR POSITIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	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
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC25A21-related disorder	Likely benign	ClinVar	★★☆☆☆ 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 carcinosarcoma	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 Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	21372632, 2478272		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	15534104		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	15534104		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	12680208		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30066894		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	15534104		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	12810952, 17047198, 19434801, 20798393, 21930798		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	17047198, 18413818, 20456464, 20798393, 21930798, 22648715		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	12112318, 14762779, 16382048, 20456464, 6738598, 9000553		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	GENOMICS_ENGLAND_DG	30475435		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35738259	Associate	★☆☆☆☆ Found in Text Mining only
Angiolymphoid hyperplasia	Angiolymphoid Hyperplasia	BEFREE	10619440		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	33806076	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	28986097		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	17291856		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	36226239	Associate	★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	10754523, 16234506		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	29147966		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	31279243	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	33806076	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10473083, 11830503, 11964084, 15224348, 16170669, 16513374, 1663805, 18330478, 19225907, 19244169, 24080446, 2790797, 29506637, 7647340, 7749159, 8737382		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	22976807, 24080446	Associate	★☆☆☆☆ Found in Text Mining only
Brooke-Spiegler syndrome	Brooke-Spiegler Syndrome	BEFREE	11327746		★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	18974881	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	12525265	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	12810952, 32123240	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23588207	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	6265908	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16761099, 17558447, 3755388		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24002681	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	31506465		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	20798393	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	9056624		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	19832840, 9056624		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	2904292		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	23300995		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	29853605		★☆☆☆☆ Found in Text Mining only
Coloboma of optic disc	Coloboma of optic disc	BEFREE	16604056		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	12810952, 1324153, 1573975, 15818733, 1693276, 19789310, 2511847, 29853605, 3652034		★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	19789310	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	10816435, 1598217	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	12810952		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	15918191	Stimulate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	1598217		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	12148577, 12679917, 14534731, 15057874, 15180186, 15818733, 16382048, 16783835, 16888408, 19434801, 19789310, 19876766, 20456464, 2304344, 30642111, 9293942, 9730154		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	21930798		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	12148577, 1976038		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	12679917, 12810952, 15918191, 19789310, 27433286, 30138353	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17957960		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	21930798		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23588207	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37937641	Inhibit	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	29853605		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33806076	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29719397		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	19878148		★☆☆☆☆ Found in Text Mining only
Dystrophia myotonica 2	Myotonic dystrophy	BEFREE	20174632		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	GENOMICS_ENGLAND_DG	30475435		★☆☆☆☆ Found in Text Mining only
Endocarditis	Endocarditis	BEFREE	28233282		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	29240775		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	23355888		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	33806076	Associate	★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	10906419		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	10632342, 1423312		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	10632342, 1423312		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	32872669	Associate	★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	10232597		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	9230217		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	21386987		★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	12645788, 17569126		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	20798393	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30941997		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	19244169		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	33498463, 34288803	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	30239107		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	30475435		★☆☆☆☆ Found in Text Mining only
Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Hearing Disorders	Headache	Pubtator	20798393	Associate	★☆☆☆☆ Found in Text Mining only
Hyperammonemia	Hyperammonemia	Pubtator	28270654	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	33806076	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28735657		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	29022381		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	30475435		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	33806076	Associate	★☆☆☆☆ Found in Text Mining only
Juvenile polyp	Polyp	BEFREE	8559612		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	18327085		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	30138353, 3036086		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	35924822	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	21372632	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	2542700		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12148577, 22579641, 27592554, 27870265, 31239700, 7627954, 7927250, 9730154		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	1423312, 22579641, 7627954, 9730154		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	26572277	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	16761099, 3004454	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	17558447	Inhibit	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	3004454		★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	3036086		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	19147568, 6436232		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	30475435		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	GENOMICS_ENGLAND_DG	30475435		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10473083, 11830503, 11964084, 15224348, 16170669, 16513374, 1663805, 18330478, 19225907, 19244169, 24080446, 2790797, 29506637, 7647340, 7749159, 8737382		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	29240775		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	10632342, 1423312		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	17318877, 30138353		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	30138353		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	23588207		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16761099, 17558447		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	15534104		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10232597, 12230264, 14713779, 15378650, 16103892, 16234506, 18548481, 18974881, 19876766		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	CTD_human_DG	2591024, 7653998		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	29029040		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	12406560, 20533091, 25079701		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10232597, 10619440, 14962510, 16428316, 17170115, 17318877, 18330478, 18548481, 19876766, 20095974, 20215859, 23588207, 24192781, 25248858, 28157137, 28316010, 29190951, 29295892, 29343747, 29436980, 29853605, 30404920, 30642111, 30804204, 31506465, 7585044, 8622876, 9331102		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	12810952, 1573975, 15818733, 1693276, 19789310, 2511847, 29853605, 3652034, 8981660		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	12810952		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	8519686		★☆☆☆☆ Found in Text Mining only
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS	Megalencephalic Leukoencephalopathy With Subcortical Cysts	BEFREE	25449949		★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	35738259	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	11678434, 15542977		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	LHGDN	15015770		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	34294844	Associate	★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	29472377		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	29517768	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	BEFREE	29517768		★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	Pubtator	29517768	Associate	★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	33806076	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	1898373, 3036086, 7646459		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	1898373, 3109382, 3569540	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	29517768	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	8221660		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	2542700, 2904292		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	23300995		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	20174632	Inhibit	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	19667180		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10473083, 10563250, 10632342, 11553856, 11678434, 11801552, 11830503, 12112318, 12810952, 1423312, 14713779, 15009201, 15670771, 1657557, 16783835, 16888408, 16912189, 1693276, 17047198, 17096347, 17234230, 17318877, 17558447, 18330478, 18974881, 19517275, 1976038, 19960435, 20199977, 20603835, 21930798, 22648715, 23440295, 23840755, 26514486, 27012811, 27592554, 29295892, 29299930, 29343747, 3036086, 30404920, 30701028, 31239700, 3355171, 7927250, 8519686, 8608555, 9000553, 9230217, 9293942		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10933967, 11306486, 12880971, 19047152, 19147568, 19960435, 23440295, 25415050, 26018967, 26093909, 27012811, 2780050, 28209620, 29241071, 29295892, 29626790, 30251395, 30404920, 30700572, 6436232, 7954361, 8622876, 8761302, 9674700		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	19960435, 23440295, 24096079, 26018967, 26093909, 32786875	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30475435		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	15534104		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	LHGDN	15534104		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	10445853, 20199977		★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	12230264		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	1654784, 25269626		★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	BEFREE	24642684		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34638596	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	15534104		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	15534104		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	CTD_human_DG	17928125		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	7585044		★☆☆☆☆ Found in Text Mining only
Papilloma, Squamous Cell	Papilloma	CTD_human_DG	17928125		★☆☆☆☆ Found in Text Mining only
Papillomatosis	Papillomatosis	CTD_human_DG	17928125		★☆☆☆☆ Found in Text Mining only
Peutz-Jeghers Syndrome	Peutz-Jeghers Syndrome	BEFREE	12650805		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10232597, 12230264, 14713779, 15378650, 16234506, 18548481, 18974881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	12230264, 21921943		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18548481		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20215859	Inhibit	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24386364	Associate	★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	30138353		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	29241071, 31297892		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	17318877		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10852253, 28986097		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	33806076	Associate	★☆☆☆☆ Found in Text Mining only
SEBASTIAN SYNDROME	SEBASTIAN SYNDROME	BEFREE	11327746		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	33806076	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	17234230		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	CTD_human_DG	2591024, 7653998		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	6264474	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	29517768, 31028354		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	27870265, 31793679		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26514486	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	29029040		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	26514486		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	12406560, 20533091, 25079701, 8608555		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	17569126, 22442341	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach Diseases	BEFREE	22442341		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	17569126, 22442341, 34376808	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35444105	Inhibit	★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	20798393		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	32139506	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	1590311, 29853605		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	17228877	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Overactive	Overactive bladder	Pubtator	19812367	Stimulate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	9331102		★☆☆☆☆ Found in Text Mining only