Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	3418
Gene name	Isocitrate dehydrogenase (NADP(+)) 2
Gene symbol	IDH2
Synonyms (NCBI Gene)	D2HGA2ICD-MIDHIDH-2IDHMIDPIDPMmNADP-IDH
Chromosome	15
Chromosome location	15q26.1
Summary	Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121913502	C>A,T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121913503	C>A,T	Not-provided, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs142816010	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs267606870	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs767061831	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519736	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs1057519906	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1085307936	G>A	Likely-pathogenic	Coding sequence variant, missense variant

142

Show/Hide all (142)

miRTarBase ID	miRNA	Experiments	Reference
MIRT007339	hsa-miR-183-5p	ImmunocytochemistryLuciferase reporter assayqRT-PCR	23263745
MIRT007339	hsa-miR-183-5p	ImmunocytochemistryLuciferase reporter assayqRT-PCR	23263745
MIRT029275	hsa-miR-26b-5p	Microarray	19088304
MIRT052706	hsa-miR-1260b	CLASH	23622248
MIRT710710	hsa-miR-1250-3p	HITS-CLIP	19536157
MIRT710709	hsa-miR-6840-3p	HITS-CLIP	19536157
MIRT710708	hsa-miR-1915-3p	HITS-CLIP	19536157
MIRT710707	hsa-miR-6764-5p	HITS-CLIP	19536157
MIRT710706	hsa-miR-4726-3p	HITS-CLIP	19536157
MIRT710705	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT710704	hsa-miR-6791-3p	HITS-CLIP	19536157
MIRT710703	hsa-miR-6829-3p	HITS-CLIP	19536157
MIRT710702	hsa-miR-5001-3p	HITS-CLIP	19536157
MIRT710701	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT710700	hsa-miR-498	HITS-CLIP	19536157
MIRT710699	hsa-miR-3074-5p	HITS-CLIP	19536157
MIRT710698	hsa-miR-7152-5p	HITS-CLIP	19536157
MIRT710710	hsa-miR-1250-3p	HITS-CLIP	19536157
MIRT710709	hsa-miR-6840-3p	HITS-CLIP	19536157
MIRT710708	hsa-miR-1915-3p	HITS-CLIP	19536157
MIRT710707	hsa-miR-6764-5p	HITS-CLIP	19536157
MIRT710706	hsa-miR-4726-3p	HITS-CLIP	19536157
MIRT710705	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT710704	hsa-miR-6791-3p	HITS-CLIP	19536157
MIRT710703	hsa-miR-6829-3p	HITS-CLIP	19536157
MIRT710702	hsa-miR-5001-3p	HITS-CLIP	19536157
MIRT710701	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT710700	hsa-miR-498	HITS-CLIP	19536157
MIRT710699	hsa-miR-3074-5p	HITS-CLIP	19536157
MIRT710698	hsa-miR-7152-5p	HITS-CLIP	19536157
MIRT007339	hsa-miR-183-5p	MicroarrayqRT-PCR	35816043
MIRT1059264	hsa-let-7a	CLIP-seq
MIRT1059265	hsa-let-7b	CLIP-seq
MIRT1059266	hsa-let-7c	CLIP-seq
MIRT1059267	hsa-let-7d	CLIP-seq
MIRT1059268	hsa-let-7e	CLIP-seq
MIRT1059269	hsa-let-7f	CLIP-seq
MIRT1059270	hsa-let-7g	CLIP-seq
MIRT1059271	hsa-let-7i	CLIP-seq
MIRT1059272	hsa-miR-101	CLIP-seq
MIRT1059273	hsa-miR-1184	CLIP-seq
MIRT1059274	hsa-miR-144	CLIP-seq
MIRT1059275	hsa-miR-1976	CLIP-seq
MIRT1059276	hsa-miR-202	CLIP-seq
MIRT1059277	hsa-miR-24	CLIP-seq
MIRT1059278	hsa-miR-3064-5p	CLIP-seq
MIRT1059279	hsa-miR-3140-3p	CLIP-seq
MIRT1059280	hsa-miR-3184	CLIP-seq
MIRT1059281	hsa-miR-3620	CLIP-seq
MIRT1059282	hsa-miR-3648	CLIP-seq
MIRT1059283	hsa-miR-3664-3p	CLIP-seq
MIRT1059284	hsa-miR-423-5p	CLIP-seq
MIRT1059285	hsa-miR-4261	CLIP-seq
MIRT1059286	hsa-miR-4268	CLIP-seq
MIRT1059287	hsa-miR-4418	CLIP-seq
MIRT1059288	hsa-miR-4433	CLIP-seq
MIRT1059289	hsa-miR-4448	CLIP-seq
MIRT1059290	hsa-miR-4458	CLIP-seq
MIRT1059291	hsa-miR-4459	CLIP-seq
MIRT1059292	hsa-miR-4500	CLIP-seq
MIRT1059293	hsa-miR-4690-3p	CLIP-seq
MIRT1059294	hsa-miR-4722-3p	CLIP-seq
MIRT1059295	hsa-miR-4749-3p	CLIP-seq
MIRT1059296	hsa-miR-4751	CLIP-seq
MIRT1059297	hsa-miR-4768-3p	CLIP-seq
MIRT1059298	hsa-miR-4789-3p	CLIP-seq
MIRT1059299	hsa-miR-509-3-5p	CLIP-seq
MIRT1059300	hsa-miR-509-5p	CLIP-seq
MIRT1059301	hsa-miR-520a-5p	CLIP-seq
MIRT1059302	hsa-miR-521	CLIP-seq
MIRT1059303	hsa-miR-525-5p	CLIP-seq
MIRT1059304	hsa-miR-548ac	CLIP-seq
MIRT1059305	hsa-miR-548ad	CLIP-seq
MIRT1059306	hsa-miR-548ae	CLIP-seq
MIRT1059307	hsa-miR-548aj	CLIP-seq
MIRT1059308	hsa-miR-548am	CLIP-seq
MIRT1059309	hsa-miR-548d-3p	CLIP-seq
MIRT1059310	hsa-miR-548x	CLIP-seq
MIRT1059311	hsa-miR-548z	CLIP-seq
MIRT1059312	hsa-miR-582-5p	CLIP-seq
MIRT1059313	hsa-miR-767-5p	CLIP-seq
MIRT1059314	hsa-miR-892b	CLIP-seq
MIRT1059315	hsa-miR-98	CLIP-seq
MIRT1059264	hsa-let-7a	CLIP-seq
MIRT1059265	hsa-let-7b	CLIP-seq
MIRT1059266	hsa-let-7c	CLIP-seq
MIRT1059267	hsa-let-7d	CLIP-seq
MIRT1059268	hsa-let-7e	CLIP-seq
MIRT1059269	hsa-let-7f	CLIP-seq
MIRT1059270	hsa-let-7g	CLIP-seq
MIRT1059271	hsa-let-7i	CLIP-seq
MIRT1059272	hsa-miR-101	CLIP-seq
MIRT1059274	hsa-miR-144	CLIP-seq
MIRT1059276	hsa-miR-202	CLIP-seq
MIRT1059278	hsa-miR-3064-5p	CLIP-seq
MIRT1059290	hsa-miR-4458	CLIP-seq
MIRT1059292	hsa-miR-4500	CLIP-seq
MIRT1059302	hsa-miR-521	CLIP-seq
MIRT1059305	hsa-miR-548ad	CLIP-seq
MIRT1059312	hsa-miR-582-5p	CLIP-seq
MIRT1059313	hsa-miR-767-5p	CLIP-seq
MIRT1059314	hsa-miR-892b	CLIP-seq
MIRT1059315	hsa-miR-98	CLIP-seq
MIRT1059264	hsa-let-7a	CLIP-seq
MIRT1059265	hsa-let-7b	CLIP-seq
MIRT1059266	hsa-let-7c	CLIP-seq
MIRT1059267	hsa-let-7d	CLIP-seq
MIRT1059268	hsa-let-7e	CLIP-seq
MIRT1059269	hsa-let-7f	CLIP-seq
MIRT1059270	hsa-let-7g	CLIP-seq
MIRT1059271	hsa-let-7i	CLIP-seq
MIRT2245990	hsa-miR-1294	CLIP-seq
MIRT2245991	hsa-miR-183	CLIP-seq
MIRT1059275	hsa-miR-1976	CLIP-seq
MIRT1059276	hsa-miR-202	CLIP-seq
MIRT2245992	hsa-miR-2467-5p	CLIP-seq
MIRT1059278	hsa-miR-3064-5p	CLIP-seq
MIRT1059280	hsa-miR-3184	CLIP-seq
MIRT2245993	hsa-miR-3188	CLIP-seq
MIRT1059281	hsa-miR-3620	CLIP-seq
MIRT2245994	hsa-miR-3975	CLIP-seq
MIRT1059284	hsa-miR-423-5p	CLIP-seq
MIRT1059285	hsa-miR-4261	CLIP-seq
MIRT1059286	hsa-miR-4268	CLIP-seq
MIRT2245995	hsa-miR-4284	CLIP-seq
MIRT2245996	hsa-miR-4316	CLIP-seq
MIRT1059289	hsa-miR-4448	CLIP-seq
MIRT1059290	hsa-miR-4458	CLIP-seq
MIRT1059292	hsa-miR-4500	CLIP-seq
MIRT2245997	hsa-miR-4675	CLIP-seq
MIRT2245998	hsa-miR-4677-3p	CLIP-seq
MIRT1059294	hsa-miR-4722-3p	CLIP-seq
MIRT2245999	hsa-miR-4741	CLIP-seq
MIRT1059298	hsa-miR-4789-3p	CLIP-seq
MIRT2246000	hsa-miR-485-5p	CLIP-seq
MIRT1059301	hsa-miR-520a-5p	CLIP-seq
MIRT1059302	hsa-miR-521	CLIP-seq
MIRT1059303	hsa-miR-525-5p	CLIP-seq
MIRT1059305	hsa-miR-548ad	CLIP-seq
MIRT1059313	hsa-miR-767-5p	CLIP-seq
MIRT1059314	hsa-miR-892b	CLIP-seq
MIRT1059315	hsa-miR-98	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IEA
GO:0000287	Function	Magnesium ion binding	ISS
GO:0004450	Function	Isocitrate dehydrogenase (NADP+) activity	IBA
GO:0004450	Function	Isocitrate dehydrogenase (NADP+) activity	IDA	23226729
GO:0004450	Function	Isocitrate dehydrogenase (NADP+) activity	IEA
GO:0004450	Function	Isocitrate dehydrogenase (NADP+) activity	IMP	22416140
GO:0004450	Function	Isocitrate dehydrogenase (NADP+) activity	ISS
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005777	Component	Peroxisome	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005975	Process	Carbohydrate metabolic process	NAS	8954790
GO:0006097	Process	Glyoxylate cycle	IEA
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0006102	Process	Isocitrate metabolic process	IEA
GO:0006102	Process	Isocitrate metabolic process	ISS
GO:0006103	Process	2-oxoglutarate metabolic process	ISS
GO:0006739	Process	NADP+ metabolic process	IBA
GO:0006741	Process	NADP+ biosynthetic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051287	Function	NAD binding	IEA
GO:0060253	Process	Negative regulation of glial cell proliferation	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:1903976	Process	Negative regulation of glial cell migration	IEA
GO:1904465	Process	Negative regulation of matrix metallopeptidase secretion	IEA

MIM	HGNC	e!Ensembl
147650	5383	ENSG00000182054

P48735

Protein name

Isocitrate dehydrogenase [NADP], mitochondrial (IDH) (EC 1.1.1.42) (ICD-M) (IDP) (NADP(+)-specific ICDH) (Oxalosuccinate decarboxylase)

Protein function

Plays a role in intermediary metabolism and energy production (PubMed:19228619, PubMed:22416140). It may tightly associate or interact with the pyruvate dehydrogenase complex (PubMed:19228619, PubMed:22416140). {ECO:0000269|PubMed:19228619, ECO:

PDB

4JA8 , 5GIS , 5I95 , 5I96 , 5SVN , 5SVO , 6ADI , 6UJ7 , 6UJ8 , 6UJ9 , 6VFZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00180	Iso_dh	45 → 441	Isocitrate/isopropylmalate dehydrogenase	Domain

Sequence

MAGYLRVVRSLCRASGSRPAWAPAALTAPTSQEQPRRHYADKRIKVAKPVVEMDGDEMTR
IIWQFIKEKLILPHVDIQLKYFDLGLPNRDQTDDQVTIDSALATQKYSVAVKCATITPDE
ARVEEFKLKKMWKSPNGTIRNILGGTVFREPIICKNIPRLVPGWTKPITIGRHAHGDQYK
ATDFVADRAGTFKMVFTPKDGSGVKEWEVYNFPAGGVGMGMYNTDESISGFAHSCFQYAI
QKKWPLYMSTKNTILKAYDGRFKDIFQEIFDKHYKTDFDKNKIWYEHRLIDDMVAQVLKS
SGGFVWACKNYDGDVQSDILAQGFGSLGLMTSVLVCPDGKTIEAEAAHGTVTRHYREHQK
GRPTSTNPIASIFAWTRGLEHRGKLDGNQDLIRFAQMLEKVCVETVESGAMTKDLAGCIH
GLSNVKLNEHFLNTTDFLDTIKSNLDRALGRQ

Sequence length

452

Interactions

View interactions

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)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
D-2-hydroxyglutaric aciduria 2	Likely pathogenic; Pathogenic	rs121913502, rs267606870, rs767061831	RCV000015831 RCV000015832 RCV001028040	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Maffucci syndrome	Likely pathogenic	rs1057519906	RCV005251124	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Likely pathogenic; Pathogenic	rs121913502, rs1057519906	RCV004668733 RCV004668945	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vascular malformation	Pathogenic	rs1057519736	RCV003493324	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (35)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myocardial infarction	risk factor	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANAPLASTIC ASTROCYTOMA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANAPLASTIC OLIGOASTROCYTOMA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANAPLASTIC OLIGODENDROGLIOMA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma IDH-mutant	risk factor	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMEGALY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLANGIOCARCINOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHONDROMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED D-2-HYDROXYGLUTARIC ACIDURIA AND L-2-HYDROXYGLUTARIC ACIDURIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
D-2-HYDROXYGLUTARIC ACIDURIA	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Enchondromatosis	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GEMISTOCYTIC ASTROCYTOMA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH DISORDERS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDRONEPHROSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDH-mutant and 1p/19q-codeleted oligodendroglioma	risk factor	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDH2-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, PROMYELOCYTIC, ACUTE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic malformation	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	CTD, Orphanet CTD, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Teratoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR DYSFUNCTION, LEFT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (357)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	25398940		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	21647154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	20538800, 21647154, 22385606, 22809434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	20171147, 21504050, 21647152, 21647154, 22020636, 25022553, 25651001, 26016821, 26590767, 29439493, 30360730, 31632056		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	BEFREE	22494415		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	25324972, 27992414		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	BEFREE	21647152		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	25324972, 27992414		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	22397365		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	CTD_human_DG	26285909		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	25029120		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	19915015, 25766404		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	22385606, 22809434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	21504050, 21647152, 27460089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	23681227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	29582271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	CTD_human_DG	20160062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	21643842, 22913971, 26210286, 26354927, 26493382, 28327577, 29186201, 29663171, 30206763, 30710203, 31371189, 31677487		★★★★★ ★☆☆☆☆ Found in Text Mining only
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED	alpha-Thalassemia Mental Retardation Syndrome, X-Linked	BEFREE	26918938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	31706351	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	ORPHANET_DG	19228619, 19554337, 20714900, 21075857, 23109653, 24149775, 24993250		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	19765000, 22136423, 24149775, 24344754, 25962792, 26443480, 27626492, 28110298, 28640702, 28851427, 30072066, 30878754, 31371189, 31623667		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anaplastic astrocytoma	Anaplastic Astrocytoma	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anaplastic Oligoastrocytoma	Anaplastic Oligoastrocytoma	ORPHANET_DG	19228619, 19554337, 20714900, 21075857, 23109653, 24149775		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anaplastic oligoastrocytoma	Anaplastic Oligoastrocytoma	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anaplastic Oligoastrocytoma	Anaplastic Oligoastrocytoma	BEFREE	24149775		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anaplastic Oligodendroglioma	Anaplastic Oligodendroglioma	ORPHANET_DG	19228619, 19554337, 20714900, 21075857, 23109653, 23681562, 24149775		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anaplastic Oligodendroglioma	Anaplastic Oligodendroglioma	CTD_human_DG	20160062		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anaplastic Oligodendroglioma	Anaplastic Oligodendroglioma	BEFREE	23071531, 24149775, 24353325, 26352098, 27268645, 28640702, 30072066, 30878754		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anaplastic oligodendroglioma	Anaplastic Oligodendroglioma	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	20171178		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	39209956	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Angioedemas Hereditary	Angioedema	Pubtator	35973199	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Angioimmunoblastic Lymphadenopathy	Angioimmunoblastic T-cell lymphoma	BEFREE	22215888, 23796461, 24413734, 24880135, 26268241, 26553750, 26576861, 26617922, 27177312, 27956631, 28157189, 28337768, 28634614, 28889481, 28945625, 29981867, 30952970 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Angioimmunoblastic Lymphadenopathy	Angioimmunoblastic T-cell lymphoma	CTD_human_DG	24413737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Angioma	Angioma	CTD_human_DG	22057234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	31068457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	24642088		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	19543740, 19554337, 19915484, 19933982, 19996293, 22136423, 22399191, 22410704, 22415316, 22528790, 22922872, 23877318, 23909061, 24335697, 24532263 View all (40 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	19554337, 19765000, 21631627, 22217666, 22922872, 23486687, 23918605, 24149775, 24344754, 24460285, 24810474, 25783747, 28042970, 28407731, 29016996 View all (13 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	23687089	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	24642088		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	23681227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	36864496	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bile duct carcinoma	Bile duct carcinoma	BEFREE	22180306		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bile Duct Neoplasms	Bile duct neoplasms	Pubtator	31122820	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	25043045, 25485496, 30352944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasm	Biliary Tract Neoplasm	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	32100259	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	26782057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	20410924, 20508616, 21346257		★★★★★ ★☆☆☆☆ Found in Text Mining only
Body Weight	Body weight	Pubtator	34616365	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	25485496, 28860121, 29576625, 30296521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	20160062, 20603105, 22343896, 22397365, 23111198, 23307057, 23547822, 24366912, 26538165, 26669865, 26839018, 28640702, 28748342, 29499756, 29535392, 30159860 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	22015945, 22343896, 22397365, 22426639, 22427879, 26669865, 28260349, 29287594, 29499756	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	CLINVAR_DG	26619011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Stem Glioma	Brain Stem Glioma	CLINVAR_DG	26619011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Tumor, Primary	Brain Neoplasms	BEFREE	21955925, 25727224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26007236, 27913435, 29603332, 29661250, 31599393, 31847543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27913435, 29287594, 29603332, 29785016, 31599393, 31727977, 34327780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	30455381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	20142433, 24622842, 25251602, 25398940, 27624942, 36293551, 37528157	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	22057234	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	22180306, 28084339, 28493366, 30206411, 31118795, 31186531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24716838, 25894340, 26646705, 27249600, 37266610	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	31599393, 35880695	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	31186531, 34265800	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27649069, 29465809, 30128035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33165095, 33455080, 36040304	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	35996504, 36780540	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	28493366, 31186531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	24589777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	32948843	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	24642088		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	32948843	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	22057234, 28860121	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	19228619, 23547822, 28255664, 28730141, 29548048, 29687258, 30170631		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	30170631, 32748499, 37118755	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chediak-Higashi Syndrome	Chediak-Higashi Syndrome	BEFREE	29581779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	22385606, 22809434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	21504050, 21647152, 21647154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Ganglioglioma	Ganglioglioma	BEFREE	28986151, 29040640		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	29582271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	CTD_human_DG	20160062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	21643842, 22913971, 26210286, 26354927, 26493382, 28327577, 29186201, 29663171, 30206763, 30710203, 31371189, 31677487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	22180306, 23863747, 24569570, 24760710, 28297679, 28844952		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	22180306, 22824796, 24185509, 24406866, 24478380, 24563076, 24760710, 24867389, 26245674, 27829278, 30156013, 30206411, 30615206, 31122820, 31727977 View all (8 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	CTD_human_DG	24185509		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	CGI_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondroblastoma	Chondroblastoma	BEFREE	26457357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondroma	Chondroma	BEFREE	21598255, 27461824		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondroma	Chondroma	CTD_human_DG	22057234, 25895133		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondroma	Chordoma	Pubtator	22057234, 22899282, 24344754, 25895133, 35660795, 36480544	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrosarcoma	Chondrosarcoma	BEFREE	21598255, 22057234, 22343901, 23770606, 23863747, 23954893, 24065766, 24880135, 25730874, 25956465, 26368816, 27355333, 27461824, 28133974, 28552826 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	22057234, 22824796, 23770606, 24760710, 25895133, 26368816, 28552826, 28860121, 29576625, 30206411, 31615936, 33017591, 34528398, 34994649, 35660795 View all (5 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chorioangioma	Chorioangioma	CTD_human_DG	22057234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosome 5q Deletion Syndrome	Chromosome 5q deletion syndrome	Pubtator	31685963	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	27980696		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	20410924, 20508616, 22898539, 25486927, 28335073, 29355841, 30725494		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	27469509		★★★★★ ★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	CTD_human_DG	27469509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	28554049		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25586680, 28554049, 28751160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23071355, 28675510, 36202073	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CLINVAR_DG	26619011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	27469509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	30466744		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	24185513, 24532422, 26320466, 28297679		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	32948843, 39460851	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic neutropenia	Pubtator	32948843	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	CTD_human_DG	18784066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	15065742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Astrocytoma	Astrocytoma	BEFREE	26303387, 26443480, 28110298, 29444314, 30079885, 30407589, 30878754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	23681227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	38507688	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	24589777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyschondroplasias	Dyschondroplasias	ORPHANET_DG	22057234, 22057236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	31064654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Enchondroma	Enchondroma	BEFREE	22057234, 25730874, 26508204, 31240473		★★★★★ ★☆☆☆☆ Found in Text Mining only
Enchondroma	Enchondroma	CTD_human_DG	22057234, 25895133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Enchondromatosis	Enchondromatosis	BEFREE	22057234, 23801749, 25730874, 26046462, 27036230, 30159860, 31240473		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Enchondromatosis	Enchondromatosis	CTD_human_DG	22057234, 22057236		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Enchondromatosis	Enchondromatosis	GENOMICS_ENGLAND_DG	22057234, 22057236		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Enchondromatosis	Enchondromatosis	ORPHANET_DG	22057234, 22057236		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Enchondromatosis	Enchondromatosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ependymoma	Ependymoma	BEFREE	31660579		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	27406953, 29172136		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	35972438	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	27469509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	26635288	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	26635288	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	27447873	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	22180306		★★★★★ ★☆☆☆☆ Found in Text Mining only
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	CTD_human_DG	24185509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	28415887, 31064654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrillary Astrocytoma	Fibrillary Astrocytoma	ORPHANET_DG	19228619, 19554337, 20714900, 21075857, 23109653, 24149775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrillary astrocytoma	Fibrillary Astrocytoma	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrillary Astrocytoma	Fibrillary Astrocytoma	BEFREE	25192052, 31677487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	20171178		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	31122820	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	19765000, 27791984, 28986151, 29040640		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gemistocytic astrocytoma	Gemistocytic Astrocytoma	ORPHANET_DG	19228619, 19554337, 20714900, 21075857, 23109653, 24149775		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gemistocytic astrocytoma	Gemistocytic Astrocytoma	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gemistocytic astrocytoma	Gemistocytic Astrocytoma	BEFREE	25192052		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized seizures	Seizure	CTD_human_DG	27469509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	26548627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	BEFREE	27253461		★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	Pubtator	24898068	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	BEFREE	26457357, 28545165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	19667985, 19765000, 20127344, 20171178, 20431032, 20661018, 20972461, 21465149, 21527585, 21554053, 21885076, 22136423, 22309944, 22399191, 22763442 View all (99 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19765000, 20142433, 20431032, 22034964, 22215888, 23115158, 23307057, 23918605, 24460285, 24511544, 24868540, 25256166, 26158269, 26191234, 26264438 View all (21 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	20127344, 20171178, 20692206, 20972461, 21465149, 21527585, 22309944, 23115158, 23250732, 24511544, 25150284, 25427834, 25486927, 25943888, 26061751 View all (61 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	19228619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	19228619, 19765000, 20142433, 20431032, 20603105, 20847279, 21075857, 21289278, 21326614, 22136423, 22215888, 22238333, 22281806, 22385606, 22426639 View all (104 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	19554337, 19765000, 19915484, 19996293, 20427748, 20510884, 20692206, 20847279, 20975057, 21080178, 21163902, 21289278, 21326614, 21481010, 21554053 View all (123 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
gliosarcoma	Gliosarcoma	BEFREE	26443480, 28789475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	31637414	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	39684472	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	32948843	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	22057234, 26123062, 26508204, 28544751		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	CTD_human_DG	22057234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangioma, Intramuscular	Hemangioma	CTD_human_DG	22057234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangiomatosis	Hemangiomatosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	20538800, 20946881, 21997850, 24760710, 25040794, 25599133, 27005468, 29064021, 30455381, 30577887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	24760710, 30510081, 30577887, 34570179	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	20946881, 30967620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hidradenitis Suppurativa	Hidradenitis suppurativa	BEFREE	30325321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Histiocytoid hemangioma	Epithelioid hemangioma	CTD_human_DG	22057234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	CTD_human_DG	27469509		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	30354812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CTD_human_DG	27469509		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	CTD_human_DG	27469509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	22106302	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	25029120		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	31599393		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27218255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	27218255	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	28943155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	22824796, 24185509, 24478380, 24880135, 25043045, 25485496, 26245674, 26819452, 27231123, 27259014, 27622582, 27864835, 28431889, 30615206, 31121195, 31158800 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	CTD_human_DG	24185509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	27469509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	CTD_human_DG	27469509		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia	Leukemia	Pubtator	20171147, 20368543, 21504050, 22385606, 23071355, 23996483, 25651001, 26943899, 27991718, 28653623, 28875545, 29346478, 29472349, 30013198, 32245484 View all (6 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	22343896, 22968464, 23232569, 23801749, 23999441, 24065765, 25398939, 25795706, 25895133, 27292784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	21080253, 22162831, 22824796, 27575502	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	20142433, 20171147, 20368543, 20421455, 20494930, 20538800, 20678218, 21130701, 21173122, 21504050, 21596848, 21596855, 21647154, 21881046, 21889610 View all (130 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	21828135	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	22397365, 29274134, 36815747	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	20171147, 20410924, 20421455, 20494930, 20513808, 20538800, 20567020, 20625116, 20692206, 20946881, 20962328, 21079611, 21173122, 21251613, 21294161 View all (103 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CLINVAR_DG	20946881, 21250968, 21596855, 22160010, 22397365, 22417203, 22616558, 22898539, 23558173, 23815907, 23949315, 24606448, 25157968, 26619011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	25324972, 27992414		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	28925723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	37747813	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24716838, 25081338, 25355558, 25894340, 26553362, 27249600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CLINVAR_DG	26619011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	28938192		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	28297679		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	29465809	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphangioma	Lymphangioma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	21996744, 22215888, 31488561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	33735913	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	20946881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Maffucci Syndrome	Maffucci Syndrome	BEFREE	22057234, 22057236, 24344754, 26508204, 27036230		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Maffucci Syndrome	Maffucci Syndrome	GENOMICS_ENGLAND_DG	22057234, 22057236		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Maffucci Syndrome	Maffucci Syndrome	CTD_human_DG	22057234, 22057236		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Maffucci Syndrome	Maffucci Syndrome	ORPHANET_DG	22057234, 22057236		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Maffucci syndrome	Maffucci Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	28552826		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	19228619, 22136423, 22617234, 23263745, 24559763, 27982759, 29288860, 29444314, 30244386, 31175415		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	20160062, 22015945		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27913435, 29661250, 31599393		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	25043045		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27649069, 29465809, 30128035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31068457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25098926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	20171178, 21996744, 31118795		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20368543, 20513808, 20692206, 20972461, 21284999, 21326614, 21527585, 21996744, 21997850, 22442146, 22980977, 23071355, 23071358, 23540690, 23558173 View all (65 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	28675510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	BEFREE	26562302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	28424161	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	29582271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	36941703, 40627836	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	20603105, 21356389, 22980977, 23954893, 28806730, 30003571, 30639360		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	20603105, 22980977, 28806730	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	27218255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	20962328, 23117877, 31064654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	31020875		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mixed oligoastrocytoma	Oligoastrocytoma	BEFREE	27704386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mixed Oligodendroglioma-Astrocytoma	Mixed Oligodendroglioma-Astrocytoma	ORPHANET_DG	19228619, 19554337, 20714900, 21075857, 23109653, 24149775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mixed Oligodendroglioma-Astrocytoma	Mixed Oligodendroglioma-Astrocytoma	CTD_human_DG	20160062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mixed Oligodendroglioma-Astrocytoma	Mixed Oligodendroglioma-Astrocytoma	BEFREE	26303387		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mixed Oligodendroglioma-Ependymoma	Mixed Oligodendroglioma-Ependymoma	CTD_human_DG	20160062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	22385606	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	CLINVAR_DG	26619011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	29884741	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	29970342, 30455381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	24589777		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	20494930, 20946881, 21523797, 21997850, 22033490, 23394086, 23996483, 24115220, 24936872, 25486927, 25976472, 26331834, 27005468, 27721426, 28687222, 28873367, 29549529 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	CLINVAR_DG	26619011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	20678218, 23996483, 24115220, 25836588, 26331834, 26486081, 27992414, 28687222, 29472349, 29549529, 29618722, 30222780, 31208955, 31804030, 33275703 View all (6 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	28389256		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	21080253, 25029120		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	20538800, 21346257		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	20410924, 20421455, 20508616, 25486927, 30725494		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	28581676	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	31599393, 34265800	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19228619, 19554337, 19915015, 19996293, 20160062, 20427748, 20538800, 20603105, 20725730, 20975057, 21163902, 21225914, 21251613, 21289278, 21523797 View all (149 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29987482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	29196927, 30963251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	9566392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28415887, 29861476		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25576295, 29465809		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	31064654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	31599393		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	31984581	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligoastrocytoma	Oligoastrocytoma	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligodendroblastoma	Oligodendroblastoma	CTD_human_DG	20160062		★★★★★ ★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	ORPHANET_DG	19228619, 19554337, 20714900, 21075857, 23109653, 23681562, 24149775		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
oligodendroglioma	Oligodendroglioma	BEFREE	19554337, 19765000, 19915484, 19996293, 21643842, 22072542, 22718548, 22913971, 23909061, 25277207, 25495392, 25694352, 25853694, 26210286, 26354927 View all (19 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oligodendroglioma	Oligodendroglioma	Pubtator	19554337, 19765000, 21631627, 22072542, 23071531, 23486687, 24722048, 25277207, 25694352, 27268645, 27311324, 27806376, 31727977, 31833906, 32854646, 33214617, 34020723, 34767259 View all (3 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
oligodendroglioma	Oligodendroglioma	CTD_human_DG	20160062		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oligodendroglioma	Oligodendroglioma	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ollier disease	Ollier Disease	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthrosis Deformans	Osteoarthrosis Deformans	CTD_human_DG	18784066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondroma	Osteochondroma	Pubtator	35660795	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type 3	Osteogenesis imperfecta	Pubtator	25701198	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	31479775		★★★★★ ★☆☆☆☆ 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	24403254, 24898068		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	24898068	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37210576	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	19915015, 31212687		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	Pubtator	32948195, 34616365	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	BEFREE	9566392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	22215888, 24413734, 26268241, 26617922, 28157189, 31394087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	CTD_human_DG	24413734, 24413737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	19915015, 25766404		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	19543740, 19667985, 22617234, 24057326, 24532263, 26824661, 27791984, 28468611, 30963251, 31677487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pleomorphic Xanthoastrocytoma	Pleomorphic Xanthoastrocytoma	BEFREE	27253461, 30051528, 30240866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	20508616, 21904853, 22106054, 27447873, 27991718, 28948488, 29515238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	20508616, 27447873, 27991718	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Post-Traumatic Osteoporosis	Osteoporosis	CTD_human_DG	18924182		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	20538800, 21647154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	15065742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	20410924, 20508616, 21904853, 23619563, 27447873, 28389256, 28688466		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31068457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23071355, 27819678, 31068457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Protoplasmic astrocytoma	Protoplasmic Astrocytoma	ORPHANET_DG	19228619, 19554337, 20714900, 21075857, 23109653, 24149775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Protoplasmic astrocytoma	Protoplasmic Astrocytoma	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	30111857	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	CTD_human_DG	27469509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	28928092		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	18806796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	28548125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rosette-forming glioneuronal neoplasm	Rosette-Forming Glioneuronal Neoplasm	BEFREE	20872044		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	19554337, 31984581	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	23071355, 30206411, 34994649	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	24065766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	27992414, 30848394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	22217666	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seminoma	Seminoma	Pubtator	24386123	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	33963001	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	27469509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sinonasal undifferentiated carcinoma	Sinonasal undifferentiated carcinoma	BEFREE	28084339, 28493366, 30206411, 31186531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	37395033	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	26635288, 28401022		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	22385606	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	CLINVAR_DG	26619011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28415887, 31064654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25098926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34145795	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	28157189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	20508616	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	20508616, 21904853, 22106054, 27037840, 27447873, 27991718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	30510081	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	29603332	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	20171178, 21996744, 31118795		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	20171178, 21996744, 29603332, 31118795		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	21996744, 22824796, 23071355	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	27469509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30189722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	38238853	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Trisomy	Trisomy	Pubtator	31018948	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tumors of Adrenal Cortex	Tumors Of Adrenal Cortex	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Unconjugated hyperbilirubinemia	Hyperbilirubinemia	BEFREE	28588020, 30013764		★★★★★ ★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	28084339, 29683816, 30206411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	32952848	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	28548125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	37563735	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	22057234	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Visceral angiomatosis	Visceral angiomatosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	27469509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	19915015		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vulvar Lichen Sclerosus	Vulvar Lichen Sclerosus	BEFREE	24164308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	19554337, 19765000, 19915484, 19996293, 21643842, 22072542, 22718548, 22913971, 23909061, 25277207, 25495392, 25694352, 25853694, 26210286, 26354927 View all (19 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	CTD_human_DG	20160062		★★★★★ ★☆☆☆☆ Found in Text Mining only

IDH2 (isocitrate dehydrogenase (NADP(+)) 2)