ABCB6 (ATP binding cassette subfamily B member 6 (LAN blood group))

Gene

• Entrez ID: 10058
• Gene name: ATP binding cassette subfamily B member 6 (LAN blood group)
• Gene symbol: ABCB6
• Synonyms (NCBI Gene): ABC, LAN, MTABC3, PRP, umat
• Chromosome: 2
• Chromosome location: 2q35
• Summary: This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. This protein is a member of the heavy metal importer subfamily and plays a role in p

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs148211042	C>T	Pathogenic	Missense variant, coding sequence variant
rs148458820	C>T	Affects	Coding sequence variant, stop gained
rs149202834	G>A	Affects	Missense variant, coding sequence variant, intron variant
rs376664522	G>A	Affects	Coding sequence variant, stop gained
rs387906908	AT>-	Affects	Coding sequence variant, frameshift variant
rs387906909	AG>-	Affects	Coding sequence variant, frameshift variant
rs387906911	C>T	Pathogenic	Coding sequence variant, missense variant
rs397514756	A>G	Pathogenic	Coding sequence variant, missense variant
rs397514757	T>C	Pathogenic	Coding sequence variant, missense variant
rs397514758	C>T	Pathogenic	Coding sequence variant, missense variant
rs754667801	C>T	Pathogenic	Missense variant, coding sequence variant
rs764893806	G>A	Pathogenic	Coding sequence variant, missense variant
rs765925019	GATCCGC>-,GATCCGCGATCCGC	Affects	Frameshift variant, coding sequence variant
rs796065353	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs879255549	C>T	Affects	Splice acceptor variant
rs1559234527	A>C	Affects	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023567	hsa-miR-1-3p	Proteomics	18668040
MIRT029048	hsa-miR-26b-5p	Microarray	19088304
MIRT531711	hsa-miR-7113-5p	PAR-CLIP	22012620
MIRT531711	hsa-miR-7113-5p	PAR-CLIP	22012620
MIRT1923590	hsa-miR-3677-5p	CLIP-seq
MIRT1923591	hsa-miR-3926	CLIP-seq
MIRT1923592	hsa-miR-3938	CLIP-seq
MIRT1923593	hsa-miR-4795-5p	CLIP-seq
MIRT1923594	hsa-miR-548s	CLIP-seq
MIRT1923595	hsa-miR-642b	CLIP-seq
MIRT2165065	hsa-miR-29a	CLIP-seq
MIRT2165066	hsa-miR-29b	CLIP-seq
MIRT2165067	hsa-miR-29c	CLIP-seq
MIRT2165068	hsa-miR-3153	CLIP-seq
MIRT2165069	hsa-miR-4428	CLIP-seq
MIRT2165070	hsa-miR-621	CLIP-seq
MIRT1923595	hsa-miR-642b	CLIP-seq
MIRT2165071	hsa-miR-767-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0005524	Function	ATP binding	IDA	10837493, 27507172
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	18279659, 22655043
GO:0005739	Component	Mitochondrion	IDA	10837493
GO:0005739	Component	Mitochondrion	IMP	23792964
GO:0005740	Component	Mitochondrial envelope	IDA	10837493
GO:0005741	Component	Mitochondrial outer membrane	IDA	17006453, 17661442
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IDA	22655043, 25627919, 29940187, 31053883
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0005768	Component	Endosome	ISS
GO:0005774	Component	Vacuolar membrane	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	22226084
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	21199866
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IDA	18279659, 21199866, 22226084
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	17661442, 22655043, 25627919, 27507172
GO:0005886	Component	Plasma membrane	IEA
GO:0006778	Process	Porphyrin-containing compound metabolic process	IDA	27507172
GO:0006778	Process	Porphyrin-containing compound metabolic process	IEA
GO:0006778	Process	Porphyrin-containing compound metabolic process	IMP	33007128
GO:0006779	Process	Porphyrin-containing compound biosynthetic process	IDA	17006453
GO:0006785	Process	Heme B biosynthetic process	IMP	22655043
GO:0006878	Process	Intracellular copper ion homeostasis	IEA
GO:0006878	Process	Intracellular copper ion homeostasis	ISS
GO:0006879	Process	Intracellular iron ion homeostasis	NAS	11977179
GO:0007420	Process	Brain development	IMP	22100072
GO:0010008	Component	Endosome membrane	IEA
GO:0015232	Function	Heme transmembrane transporter activity	IEA
GO:0015439	Function	ABC-type heme transporter activity	IBA
GO:0015439	Function	ABC-type heme transporter activity	IEA
GO:0015439	Function	ABC-type heme transporter activity	IMP	17006453
GO:0015439	Function	ABC-type heme transporter activity	TAS
GO:0015562	Function	Efflux transmembrane transporter activity	IDA	17661442
GO:0015886	Process	Heme transport	IBA
GO:0015886	Process	Heme transport	IDA	17661442
GO:0015886	Process	Heme transport	IMP	17006453
GO:0016020	Component	Membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IDA	33007128
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0020037	Function	Heme binding	IBA
GO:0020037	Function	Heme binding	IDA	17006453, 33007128
GO:0031901	Component	Early endosome membrane	IEA
GO:0031901	Component	Early endosome membrane	ISS
GO:0031902	Component	Late endosome membrane	IEA
GO:0032585	Component	Multivesicular body membrane	IDA	25627919
GO:0032585	Component	Multivesicular body membrane	IEA
GO:0033013	Process	Tetrapyrrole metabolic process	IMP	23792964
GO:0033162	Component	Melanosome membrane	IDA	29940187
GO:0033162	Component	Melanosome membrane	IEA
GO:0034755	Process	Iron ion transmembrane transport	IEA
GO:0035351	Process	Heme transmembrane transport	IDA	33007128
GO:0036020	Component	Endolysosome membrane	IDA	25627919, 31053883
GO:0036020	Component	Endolysosome membrane	IEA
GO:0042168	Process	Heme metabolic process	IDA	33007128
GO:0043190	Component	ATP-binding cassette (ABC) transporter complex	NAS	11955620
GO:0043588	Process	Skin development	IMP	22100072
GO:0046906	Function	Tetrapyrrole binding	IDA	17006453, 23792964
GO:0055085	Process	Transmembrane transport	IBA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070062	Component	Extracellular exosome	IDA	22655043
GO:0070062	Component	Extracellular exosome	IEA
GO:0098849	Process	Cellular detoxification of cadmium ion	IDA	31053883
GO:0140359	Function	ABC-type transporter activity	IDA	27507172
GO:0140359	Function	ABC-type transporter activity	IEA
GO:0140359	Function	ABC-type transporter activity	IMP	23792964
GO:0140359	Function	ABC-type transporter activity	ISS
GO:1903232	Process	Melanosome assembly	IDA	29940187

Other IDs

• MIM: 605452
• HGNC: 47
• e!Ensembl: ENSG00000115657

Protein

• UniProt ID: Q9NP58
• Protein name: ATP-binding cassette sub-family B member 6 (ABC-type heme transporter ABCB6) (EC 7.6.2.5) (Mitochondrial ABC transporter 3) (Mt-ABC transporter 3) (P-glycoprotein-related protein) (Ubiquitously-expressed mammalian ABC half transporter)
• Protein function: ATP-dependent transporter that catalyzes the transport of a broad-spectrum of porphyrins from the cytoplasm to the extracellular space through the plasma membrane or into the vesicle lumen (PubMed:17661442, PubMed:23792964, PubMed:27507172, PubM
• PDB: 3NH6, 3NH9, 3NHA, 3NHB, 7D7N, 7D7R, 7DNY, 7DNZ, 7EKL, 7EKM, 8FWK, 8K7B, 8K7C, 8YR3, 8YR4, 9DBQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16185	MTABC_N	6 → 255	Mitochondrial ABC-transporter N-terminal five TM region	Family
  PF00664	ABC_membrane	265 → 544	ABC transporter transmembrane region	Family
  PF00005	ABC_tran	606 → 755	ABC transporter	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. High expression is detected in the retinal epithelium (PubMed:10837493, PubMed:22226084). Expressed in mature erythrocytes (PubMed:22655043). {ECO:0000269|PubMed:10837493, ECO:0000269|PubMed:22226084, ECO:0000269|PubM
• Sequence:

  MVTVGNYCEAEGPVGPAWMQDGLSPCFFFTLVPSTRMALGTLALVLALPCRRRERPAGAD
  SLSWGAGPRISPYVLQLLLATLQAALPLAGLAGRVGTARGAPLPSYLLLASVLESLAGAC
  GLWLLVVERSQARQRLAMGIWIKFRHSPGLLLLWTVAFAAENLALVSWNSPQWWWARADL
  GQQVQFSLWVLRYVVSGGLFVLGLWAPGLRPQSYTLQVHEEDQDVERSQVRSAAQQSTWR
  DFGRKLRLLSGYLWPRGSPALQLVVLICLGLMGLERALNVLVPIFYRNIVNLLTEKAPWN
  SLAWTVTSYVFLKFLQGGGTGSTGFVSNLRTFLWIRVQQFTSRRVELLIFSHLHELSLRW
  HLGRRTGEVLRIADRGTSSVTGLLSYLVFNVIPTLADIIIGIIYFSMFFNAWFGLIVFLC
  MSLYLTLTIVVTEWRTKFRRAMNTQENATRARAVDSLLNFETVKYYNAESYEVERYREAI
  IKYQGLEWKSSASLVLLNQTQNLVIGLGLLAGSLLCAYFVTEQKLQVGDYVLFGTYIIQL
  YMPLNWFGTYYRMIQTNFIDMENMFDLLKEETEVKDLPGAGPLRFQKGRIEFENVHFSYA
  DGRETLQDVSFTVMPGQTLALVGPSGAGKSTILRLLFRFYDISSGCIRIDGQDISQVTQA
  SLRSHIGVVPQDTVLFNDTIADNIRYGRVTAGNDEVEAAAQAAGIHDAIMAFPEGYRTQV
  GERGLKLSGGEKQRVAIARTILKAPGIILLDEATSALDTSNERAIQASLAKVCANRTTIV
  VAHRLSTVVNADQILVIKDGCIVERGRHEALLSRGGVYADMWQLQQGQEETSEDTKPQTM
  ER

• Sequence length: 842

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
Dyschromatosis universalis hereditaria 3	Pathogenic; Likely pathogenic	rs796065353, rs764893806, rs201100181, rs397514756, rs397514757, rs397514758	RCV000190414 RCV002500635 RCV003991334 RCV000054816 RCV000054817 RCV000054818	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial pseudohyperkalemia	Pathogenic; Likely pathogenic	rs754667801, rs764893806	RCV000202403 RCV000202404	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Langereis blood group	Likely pathogenic	rs764893806	RCV002500635	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microphthalmia, isolated, with coloboma 7	Likely pathogenic	rs764893806	RCV002500635	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ABCB6-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute intermittent porphyria	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT EYELID	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOBOMA OF CHOROID AND RETINA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOBOMA OF LENS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOBOMA OF OPTIC DISC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOBOMATOUS MICROPHTHALMIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL COLOBOMA OF IRIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary coproporphyria	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA AND MENTAL DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA/COLOBOMA 7	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMOS CO-OCCURRENT WITH CONGENITAL OCULAR COLOBOMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Protoporphyria, erythropoietic, 1	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Variegate porphyria	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ablepharon	Ablepharon	BEFREE	30301382		★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	BEFREE	29767287		★☆☆☆☆ Found in Text Mining only
Actinic keratosis	Actinic keratosis	BEFREE	9344196		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	31109285		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	23180570, 29990841		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	30860475		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	30639603		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	26512967		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	20377486		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	11257105		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	8883950		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	10227685, 10329405, 11748843, 12530690, 17092750, 17602313, 21039332, 31350055, 7581394, 9607414		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	30639603		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	20069569, 20145271, 22238326, 24190977, 27268052		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	30185655		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	27793411		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	29443105		★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	BEFREE	29443105		★☆☆☆☆ Found in Text Mining only
Alveolitis Extrinsic Allergic	Extrinsic allergic alveolitis	Pubtator	32501729	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	24012632, 28993924, 29848690, 31194501		★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	BEFREE	29443105		★☆☆☆☆ Found in Text Mining only
Angioedemas, Hereditary	Angioedema	BEFREE	28950264		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31622355		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	23932088, 26632684, 27438321, 28498937, 29361501, 29879439, 30058354		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	27793411, 30655622		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	23932088, 26632684, 27438321, 28498937, 29361501, 29879439, 30058354		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	28645934, 28799620, 30334439, 30586727		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29440778		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	29480438, 30979038		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	19745159, 20070289		★☆☆☆☆ Found in Text Mining only
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	BEFREE	14717981, 4031633, 759524		★☆☆☆☆ Found in Text Mining only
Berylliosis	Berylliosis	Pubtator	32501729	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	28597043, 29265948		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	15455355		★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Bone neoplasm	Pubtator	38429095	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	21827403, 27553832		★☆☆☆☆ Found in Text Mining only
Brain Stem Glioma	Brain Stem Glioma	BEFREE	26883271		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17219382, 17910594, 20102361, 21494810, 24138987, 25995231, 27029062, 27033456, 27878697, 27916559, 29028589, 30181081, 30280663, 31667039		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21695211, 21784846, 22701315, 22848474, 23261525, 25995231, 26681085	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiolitis	Bronchiolitis	BEFREE	22016561		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	35546156	Associate	★☆☆☆☆ Found in Text Mining only
Cafe au lait spots, multiple	Cafe-au-lait spot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Calcification of Joints and Arteries	Calcification Of Joints And Arteries	BEFREE	21371928		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25793771	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11396630, 15455355, 8735718		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	12428063, 22246506, 23483087, 31790363, 33988674, 35123420, 37166013, 37215201	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	21849266	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	15455355		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	19107762, 29145194		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	31622355	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	9344196		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23423781, 26820484, 29070896, 30672151		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	16149878		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28356433, 28816530, 28862945, 29602632		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	33923544	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	6422636		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	24974158		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28645934, 29025926, 30334439, 30586727		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	25705694		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	30639603, 6433638		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	26512967		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	28785115		★☆☆☆☆ Found in Text Mining only
Cholestasis of pregnancy	Cholestasis of pregnancy	BEFREE	15077010		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	18612811, 24178909, 26094604, 29138803, 31180539		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	19580841		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	19727816		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31142198		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	21849266		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	37211381	Associate	★☆☆☆☆ Found in Text Mining only
Coloboma	Coloboma	Pubtator	24281366	Associate	★☆☆☆☆ Found in Text Mining only
Coloboma of choroid and retina	Coloboma Of Eye	ORPHANET_DG	22226084		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coloboma of lens	Lens coloboma	ORPHANET_DG	22226084		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coloboma of optic disc	Coloboma of optic disc	ORPHANET_DG	22226084		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colobomatous microphthalmia	Microphthalmia With Coloboma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon Carcinoma	Colon Carcinoma	BEFREE	12625868, 16844096		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	12636175, 29303075, 29789423		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	22294766		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	22294766		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32559325	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital coloboma of iris	Congenital Coloboma Of Iris	ORPHANET_DG	22226084		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	22226084, 24498303, 24859618		★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	27993954, 29020355, 29602632		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27586968		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	28862945		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	28862945		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28862945, 30423457		★☆☆☆☆ Found in Text Mining only
Creutzfeldt-Jakob Disease, Familial	Creutzfeldt-Jakob disease	BEFREE	1357594		★☆☆☆☆ Found in Text Mining only
Creutzfeldt-Jakob Disease, Sporadic	Creutzfeldt-Jakob disease	BEFREE	10762506		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	36466876	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	11358378, 11441126, 15964250, 16554808, 17036051, 18230544, 19637987, 20861014, 25287046, 31201318		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	20861014, 26092729	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28339078, 29045002, 29379374, 30443214		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	22785396, 28039314, 28182895, 30783964, 30804821		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	3590141		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	22558111, 28268190		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	22558111, 28268190, 29767287, 30423457		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	32762489	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	30224347		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21462727, 27424984, 30041600, 30739885		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	16424389, 17951530, 19377508, 20069569, 20145271, 20512275, 21806349, 21832150, 22116549, 22238326, 22619049, 22806309, 23884370, 24190977, 25853502, 25860245, 26910115, 27013211, 27048211, 27268052, 27439595, 28248435, 28460620, 28525305, 29172502, 29207605, 29641966, 30423319, 30429351, 31217338		★☆☆☆☆ Found in Text Mining only
Disorders of Porphyrin Metabolism	Porphyria	BEFREE	27507172, 29192381		★☆☆☆☆ Found in Text Mining only
Duodenal Ulcer	Duodenal Ulcer	BEFREE	26408373		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyschromatosis universalis	Dyschromatosis Universalis Hereditaria	ORPHANET_DG	23519333		★☆☆☆☆ Found in Text Mining only
Dyschromatosis universalis hereditaria	Dyschromatosis Universalis Hereditaria	BEFREE	23519333, 24224009, 24498303, 29940187		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyschromatosis universalis hereditaria	Dyschromatosis symmetrica hereditaria	Pubtator	23519333, 24224009, 26712430, 32174800, 34174894	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyschromatosis universalis hereditaria	Dyschromatosis Universalis Hereditaria	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3	Dyschromatosis Universalis Hereditaria	GENOMICS_ENGLAND_DG	22226084, 23519333, 29903433		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3	Dyschromatosis Universalis Hereditaria	UNIPROT_DG	23519333, 24224009, 24498303, 25288164		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3	Dyschromatosis Universalis Hereditaria	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3	Dyschromatosis Universalis Hereditaria	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyslipidemias	Dyslipidemias	BEFREE	30058354		★☆☆☆☆ Found in Text Mining only
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)	Dystonia	BEFREE	28655586, 28973395		★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	23582646, 26318963		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	3590141		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	28973395, 7767489, 8137132		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	19878085, 20070289		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	17910594, 18086001, 21316268, 28264441, 29981400		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	28931644		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	26820484, 29070896		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	29543757		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	29543757		★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	29551395		★☆☆☆☆ Found in Text Mining only
Familial HDL deficiency	Glucocorticoid Deficiency	BEFREE	16149878		★☆☆☆☆ Found in Text Mining only
Familial Periodic Paralysis	Periodic Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial pseudohyperkalemia	Pseudohyperkalemia Cardiff	BEFREE	23180570, 27151991, 27756835		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial pseudohyperkalemia	Pseudohyperkalemia Cardiff	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fatal Familial Insomnia	Fatal Insomnia	BEFREE	20806222, 9270595		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	21849266	Associate	★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	31370779		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	29265948		★☆☆☆☆ Found in Text Mining only
Gastric ulcer	Gastric ulcer	BEFREE	19850704, 26408373		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	30284046, 30982050		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	28557709, 29206199		★☆☆☆☆ Found in Text Mining only
Gerstmann-Straussler-Scheinker Disease	Gerstmann-Straussler-Scheinker syndrome	BEFREE	10581259, 1684745, 29338055, 31142381, 7858176, 7922109, 9153600		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	30295074		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26094604, 28087981, 31053883		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26094604, 28087981, 31053883		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	19300998, 22688660, 26883271, 31129471		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	30476126		★☆☆☆☆ Found in Text Mining only
GRACILE SYNDROME (disorder)	GRACILE syndrome	BEFREE	11977179		★☆☆☆☆ Found in Text Mining only
granulosa cell tumor	Granulosa Cell Tumor	BEFREE	9949285		★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	25960206		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	17479107		★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	BEFREE	15996518		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	30119096, 31109285		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	27993954, 29020355, 29602632		★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	31639263		★☆☆☆☆ Found in Text Mining only
Hemophilia, NOS	Hemophilia	BEFREE	31639263		★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	30079973		★☆☆☆☆ Found in Text Mining only
Hereditary macular coloboma	Coloboma of macula	ORPHANET_DG	22226084		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28356433, 29406430, 31619708		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemia, Familial	Hypoalphalipoproteinemia	BEFREE	16149878		★☆☆☆☆ Found in Text Mining only
Ichthyosis Lamellar	Lamellar ichthyosis	Pubtator	16902423	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	17889406, 22785396		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis of Pregnancy	Intrahepatic cholestasis of pregnancy	Pubtator	23483087	Stimulate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis of Pregnancy	Intrahepatic cholestasis of pregnancy	Pubtator	33546617	Associate	★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	30065712		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	29379374		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	29406430		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	25095896	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	30860475		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23095522	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11090069, 26512967, 27701910		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	28655586, 30079973, 30476126		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	23582646, 24850488, 25008804		★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	BEFREE	24058485		★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	BEFREE	24058485		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12428063, 21115899, 21849266, 21932399, 22110214, 23483087, 29303075, 29437631, 31790363		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	21849266		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	12428063, 21849266	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	29559914		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	21849266, 23483087		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	32501729	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	25226156, 25860245, 28566329, 31324389		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	9349233		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	29871863		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	21827403		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11056692, 17219382, 17910594, 20102361, 24138987, 25995231, 27029062, 27033456, 27878697, 27916559, 29028589, 30181081, 30280663, 31667039		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	29543757		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	29265948		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	30742940		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	21118090		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	19107762, 29145194		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23423781, 30672151		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	28819395		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26708806		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25344911, 29908307, 30254439		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	12845572		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	15455355		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11162657, 11437380, 11566359, 16377077, 18003606, 18541649, 18612811, 19266166, 19637987, 19745159, 20075923, 20596658, 21189132, 21693596, 22110214, 22714124, 23206951, 25639987, 27553832, 28031410, 28069938, 28335655, 28423714, 28468577, 28677646, 28852953, 29138424, 29342177, 29401721, 29659903, 29753110, 29789423, 29848690, 30268729, 30634695, 30639603, 30869688, 30890942, 31058834, 31109285, 31145933, 31180539, 31185182, 31633365, 31702922		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	16844096		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	29529142		★☆☆☆☆ Found in Text Mining only
Marginal Zone B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	31355927		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	19147539, 25300205, 35461746	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	21046154, 23519333, 28882620		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	21061022		★☆☆☆☆ Found in Text Mining only
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7	Microphthalmia With Coloboma	UNIPROT_DG	22226084		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7	Microphthalmia With Coloboma	GENOMICS_ENGLAND_DG	22226084, 29903433		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7	Microphthalmia With Coloboma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7	Microphthalmia With Coloboma	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microphthalmos	Microphthalmos	BEFREE	22226084		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	24281366	Associate	★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis II	Mucopolysaccharidosis	BEFREE	3079683		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	25535814, 31355927		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	28208215, 30664164		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	11562567		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	17519960, 21693596, 22241070, 29736778, 29902246, 7863633		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	24262915		★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	17056255	Associate	★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	29767287		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10666336, 10752476, 12473588, 15570577, 15688370, 16831224, 16960691, 1912516, 20335952, 21189132, 21494810, 21693596, 21849266, 22116549, 22207111, 22688660, 23614676, 24178909, 25826086, 26027741, 26094604, 26360775, 26708806, 26883271, 27497761, 27553832, 28087981, 28416758, 28423714, 28819395, 28882620, 29138803, 29172502, 29376449, 29642007, 30236813, 30254439, 30268729, 30639963, 31185182, 31319281, 31463653		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	11441126		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11118330, 12402304, 1354203, 16450357, 19127267, 1981366, 19998334, 20236072, 21683062, 23565812, 24337320, 24549749, 26360775, 28544814, 29156716, 30724592, 6848198, 8244579, 8598228, 9096651, 9293921, 9619828		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	24526230		★☆☆☆☆ Found in Text Mining only
New Variant Creutzfeldt-Jakob Disease	Creutzfeldt-Jakob Disease	BEFREE	10931212, 16480953, 21790605		★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	21557841		★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	BEFREE	30463575		★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	29045002, 29388085, 29511819, 31538913		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	24681993, 29180271		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	17045162, 21890444, 26107220, 31690262		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	33952718	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	23423781, 30672151		★☆☆☆☆ Found in Text Mining only
Painful Bladder Syndrome	Interstitial cystitis	BEFREE	15570577		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28819395		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	16819320		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	27977519		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	31708567		★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	BEFREE	29908307		★☆☆☆☆ Found in Text Mining only
periodic paralysis (finding)	Periodic Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	28816530		★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	BEFREE	28816530		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	29440778		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	8883950		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CTD_human_DG	21411543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	29440778		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	30635633		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	22785396, 28039314, 28182895, 30783964, 30804821		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26708806		★☆☆☆☆ Found in Text Mining only
Prune Belly Syndrome	Prune belly syndrome	BEFREE	15570577		★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak	Pseudohyperkalemia Cardiff	ORPHANET_DG	23180570, 24947683		★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak	Pseudohyperkalemia Cardiff	UNIPROT_DG	23180570, 24947683		★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak	Pseudohyperkalemia Cardiff	GENOMICS_ENGLAND_DG	29903433		★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak	Pseudohyperkalemia Cardiff	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak	Pseudohyperkalemia Cardiff	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	Pubtator	10811882, 21371928	Associate	★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	BEFREE	10954200, 11139250, 11776382, 15086542, 15996518, 21371928, 30154241		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27586968		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	16540294		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	19266166		★☆☆☆☆ Found in Text Mining only
Rotator cuff syndrome	Rotator cuff syndrome	BEFREE	27684960		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	32501729	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	27932669, 31189171		★☆☆☆☆ Found in Text Mining only
Sclerocystic Ovaries	Sclerocystic Ovaries	CTD_human_DG	21411543		★☆☆☆☆ Found in Text Mining only
SEBASTIAN SYNDROME	SEBASTIAN SYNDROME	BEFREE	4031633		★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	30783964		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	16902423, 26712430	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	30079973		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	11738354		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	9344196		★☆☆☆☆ Found in Text Mining only
Stargardt Disease	Stargardt disease	Pubtator	26092729	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	21849266		★☆☆☆☆ Found in Text Mining only
Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	BEFREE	26110827		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25344911, 29908307, 30254439		★☆☆☆☆ Found in Text Mining only
stomatocytic anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	31847701		★☆☆☆☆ Found in Text Mining only
Tendinopathy	Tendinopathy	BEFREE	29300106, 30487054, 31840415, 31842921		★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	26110827		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	11977179		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29752560		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	36674773	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	23512405, 29902246		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	31541597		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	31541597		★☆☆☆☆ Found in Text Mining only
Whispering dysphonia, hereditary	Whispering dysphonia	BEFREE	26643067		★☆☆☆☆ Found in Text Mining only