BIN1 (bridging integrator 1)

Gene

• Entrez ID: 274
• Gene name: Bridging integrator 1
• Gene symbol: BIN1
• Synonyms (NCBI Gene): AMPH2, AMPHL, CNM2, SH3P9
• Chromosome: 2
• Chromosome location: 2q14.3
• Summary: This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61748155	C>A,G,T	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, synonymous variant
rs121909273	C>A	Pathogenic	Coding sequence variant, missense variant
rs121909274	C>T	Pathogenic	Coding sequence variant, missense variant
rs121909275	T>A	Likely-pathogenic	Stop gained, coding sequence variant
rs267606681	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs367611371	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs370911793	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, missense variant
rs556129959	C>A,T	Pathogenic	Splice donor variant, intron variant
rs587783343	C>T	Pathogenic	Stop gained, coding sequence variant
rs761813363	->GT	Pathogenic	Frameshift variant, coding sequence variant
rs776737413	TGTGGGCTGGTAACAGGC>-	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Splice acceptor variant, coding sequence variant, intron variant
rs777176261	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1249621033	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1295546366	T>C,G	Likely-pathogenic	Splice acceptor variant, intron variant
rs1553458019	A>G	Likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018686	hsa-miR-335-5p	Microarray	18185580
MIRT756005	hsa-miR-200a-3p	Luciferase reporter assay, Western blotting, qRT-PCR, Immunoprecipitaion (IP), Immunohistochemistry (IHC)	35149697
MIRT821499	hsa-miR-1254	CLIP-seq
MIRT821500	hsa-miR-1305	CLIP-seq
MIRT821501	hsa-miR-296-5p	CLIP-seq
MIRT821502	hsa-miR-3116	CLIP-seq
MIRT821503	hsa-miR-485-5p	CLIP-seq
MIRT821504	hsa-miR-607	CLIP-seq
MIRT821505	hsa-miR-661	CLIP-seq
MIRT2181607	hsa-miR-646	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	10412034
GO:0002020	Function	Protease binding	IPI	27179792
GO:0005515	Function	Protein binding	IPI	10903846, 12604805, 12668730, 15992821, 16275660, 16530520, 17676042, 18647389, 18985028, 19004523, 23399914, 23917616, 24169621, 26395440, 26506308, 28755476, 31413325, 32552912, 33961781, 35271311
GO:0005543	Function	Phospholipid binding	IBA
GO:0005634	Component	Nucleus	IDA	8782822, 25051234
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	25051234
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IDA	25051234
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0006897	Process	Endocytosis	TAS	23399914, 25051234
GO:0006997	Process	Nucleus organization	IMP	26506308
GO:0007010	Process	Cytoskeleton organization	TAS	23399914
GO:0008021	Component	Synaptic vesicle	IBA
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008289	Function	Lipid binding	EXP	18658220
GO:0008333	Process	Endosome to lysosome transport	IMP	27179792
GO:0010564	Process	Regulation of cell cycle process	IDA	8782822
GO:0015629	Component	Actin cytoskeleton	TAS	9182667
GO:0016020	Component	Membrane	IDA	16530520, 25051234
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	28755476
GO:0019828	Function	Aspartic-type endopeptidase inhibitor activity	IMP	27179792
GO:0030018	Component	Z disc	IEA
GO:0030018	Component	Z disc	ISS
GO:0030100	Process	Regulation of endocytosis	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030276	Function	Clathrin binding	TAS	25051234
GO:0030315	Component	T-tubule	IEA
GO:0030315	Component	T-tubule	ISS
GO:0030424	Component	Axon	IDA	23399914
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS	32552912
GO:0030425	Component	Dendrite	ISS	32552912
GO:0030838	Process	Positive regulation of actin filament polymerization	ISS
GO:0031674	Component	I band	IEA
GO:0031674	Component	I band	ISS
GO:0031982	Component	Vesicle	ISS	32552912
GO:0033268	Component	Node of Ranvier	IEA
GO:0033268	Component	Node of Ranvier	ISS
GO:0033292	Process	T-tubule organization	IDA	24755653
GO:0033292	Process	T-tubule organization	ISS
GO:0042802	Function	Identical protein binding	IPI	23917616, 31413325
GO:0043065	Process	Positive regulation of apoptotic process	IDA	16530520
GO:0043065	Process	Positive regulation of apoptotic process	IMP	10412034
GO:0043194	Component	Axon initial segment	IEA
GO:0043194	Component	Axon initial segment	ISS
GO:0043196	Component	Varicosity	IEA
GO:0043679	Component	Axon terminus	IEA
GO:0044300	Component	Cerebellar mossy fiber	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045664	Process	Regulation of neuron differentiation	IMP	10412034
GO:0045807	Process	Positive regulation of endocytosis	IEA
GO:0048156	Function	Tau protein binding	IBA
GO:0048156	Function	Tau protein binding	IPI	23399914, 25051234, 28755476
GO:0048156	Function	Tau protein binding	NAS	28386764
GO:0048488	Process	Synaptic vesicle endocytosis	IEA
GO:0048711	Process	Positive regulation of astrocyte differentiation	IMP	10412034
GO:0051015	Function	Actin filament binding	IDA	26506308
GO:0051020	Function	GTPase binding	IEA
GO:0051087	Function	Protein-folding chaperone binding	IPI	25051234
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060987	Component	Lipid tube	IMP	19004523
GO:0060988	Process	Lipid tube assembly	IDA	18658220
GO:0060988	Process	Lipid tube assembly	IMP	19004523
GO:0070063	Function	RNA polymerase binding	IPI	16530520
GO:0086091	Process	Regulation of heart rate by cardiac conduction	ISS
GO:0090571	Component	RNA polymerase II transcription repressor complex	IPI	15992821
GO:0098850	Component	Extrinsic component of synaptic vesicle membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:1901380	Process	Negative regulation of potassium ion transmembrane transport	ISS
GO:1902430	Process	Negative regulation of amyloid-beta formation	IMP	27179792
GO:1903946	Process	Negative regulation of ventricular cardiac muscle cell action potential	ISS
GO:1904878	Process	Negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	ISS

Other IDs

• MIM: 601248
• HGNC: 1052
• e!Ensembl: ENSG00000136717

Protein

• UniProt ID: O00499
• Protein name: Myc box-dependent-interacting protein 1 (Amphiphysin II) (Amphiphysin-like protein) (Box-dependent myc-interacting protein 1) (Bridging integrator 1)
• Protein function: Is a key player in the control of plasma membrane curvature, membrane shaping and membrane remodeling. Required in muscle cells for the formation of T-tubules, tubular invaginations of the plasma membrane that function in depolarization-contract
• PDB: 1MUZ, 1MV0, 1MV3, 2FIC, 2RMY, 2RND, 5I22
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03114	BAR	18 → 268	BAR domain	Domain
  PF14604	SH3_9	527 → 590	Variant SH3 domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. Highest expression in the brain and muscle (PubMed:9182667). Expressed in oligodendrocytes (PubMed:27488240). Isoform IIA is expressed only in the brain, where it is detected in the gray matter, but not in the white matter
• Sequence:

  MAEMGSKGVTAGKIASNVQKKLTRAQEKVLQKLGKADETKDEQFEQCVQNFNKQLTEGTR
  LQKDLRTYLASVKAMHEASKKLNECLQEVYEPDWPGRDEANKIAENNDLLWMDYHQKLVD
  QALLTMDTYLGQFPDIKSRIAKRGRKLVDYDSARHHYESLQTAKKKDEAKIAKPVSLLEK
  AAPQWCQGKLQAHLVAQTNLLRNQAEEELIKAQKVFEEMNVDLQEELPSLWNSRVGFYVN
  TFQSIAGLEENFHKEMSKLNQNLNDVLVGLEKQHGSNTFTVKAQPSDNAPAKGNKSPSPP
  DGSPAATPEIRVNHEPEPAGGATPGATLPKSPSQLRKGPPVPPPPKHTPSKEVKQEQILS
  LFEDTFVPEISVTTPSQFEAPGPFSEQASLLDLDFDPLPPVTSPVKAPTPSGQSIPWDLW
  EPTESPAGSLPSGEPSAAEGTFAVSWPSQTAEPGPAQPAEASEVAGGTQPAAGAQEPGET
  AASEAASSSLPAVVVETFPATVNGTVEGGSGAGRLDLPPGFMFKVQAQHDYTATDTDELQ
  LKAGDVVLVIPFQNPEEQDEGWLMGVKESDWNQHKELEKCRGVFPENFTERVP

• Sequence length: 593

Pathways

KEGG:

Endocytosis
Fc gamma R-mediated phagocytosis

Reactome:

Clathrin-mediated endocytosis

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
Myopathy, centronuclear, 2	Pathogenic; Likely pathogenic	rs587783343, rs121909273, rs121909274, rs121909275, rs777176261, rs1249621033	RCV000145341 RCV000008795 RCV000008796 RCV000008797 RCV000754843 RCV000754844	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER'S DISEASE NEUROPATHOLOGIC CHANGE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APHTHOUS ULCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant nonsyndromic hearing loss 22	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIN1-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRONUCLEAR MYOPATHY	—	ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COGNITIVE DYSFUNCTION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL STRUCTURAL MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 22	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Confusional Senile Dementia	Senile Dementia	CTD_human_DG	21460841		★☆☆☆☆ Found in Text Mining only
Acute transient psychotic disorder	Transient Psychotic Disorder	GWASCAT_DG	22005930		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	20558387, 21059989, 21220176, 21347408, 21379329, 22445811, 22482808, 22539578, 23202439, 23226438, 23360175, 23419238, 23954108, 24023061, 24205320, 24260488, 24670887, 25024306, 25129075, 25365775, 25630570, 25723573, 26101835, 26510741, 26947052, 27488240, 28005991, 28084078, 28199971, 28755476, 29103045, 30286791, 30830563, 30967682, 30992433, 31262699, 31727856, 32072450, 32233750, 32345668, 32539856, 32568785, 32709662, 32727516, 32749525, 32991610, 33516273, 33531457, 33712570, 34083789, 34752346, 35241726, 35436980, 35537244, 36280690, 36573011, 37167199, 38514804, 39751715, 39755674, 40631452	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease	Alzheimer disease	Pubtator	27346750, 36759259	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Early Onset	Alzheimer disease	CTD_human_DG	21460841		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	21321396, 21379329, 21390209, 22722634, 23419238, 23871436, 23954108, 24582639, 24590001, 25022885, 25199842, 26101835, 26553058, 26846281, 26947052, 27179792, 27346750, 27488240, 27773727, 29130937, 29504051, 30497524, 30506549, 30967682, 31263146, 31335457, 31408457		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	CTD_human_DG	21460841		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CTD_human_DG	21460841		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	22005930, 29777097		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASDB_DG	22005930		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease, Focal Onset	Alzheimer disease	CTD_human_DG	21460841		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	24205320, 25281018, 27003210, 27179792, 30692199, 30992433		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	22300662	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	22300662	Associate	★☆☆☆☆ Found in Text Mining only
Asphyxia Neonatorum	Postnatal asphyxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	24670887, 26993346	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant centronuclear myopathy	Centronuclear Myopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Dominant Myotubular Myopathy	Centronuclear Myopathy	CTD_human_DG	17676042		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Centronuclear Myopathy	Centronuclear Myopathy	BEFREE	17676042, 21129173, 23754947		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Centronuclear Myopathy	Centronuclear Myopathy	CTD_human_DG	17676042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Centronuclear Myopathy	Centronuclear Myopathy	ORPHANET_DG	17676042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive centronuclear myopathy	Centronuclear Myopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	27003210, 31408457		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10652430, 8782822		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22281836, 37247278	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	22300662	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	24590001, 27888388		★☆☆☆☆ Found in Text Mining only
Centronuclear myopathy	Centronuclear Myopathy	BEFREE	17676042, 19084976, 20927630, 21129173, 21623381, 23754947, 23938035, 24755653, 25260562, 25262827, 29130937, 30894500		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Centronuclear myopathy	Centronuclear Myopathy	CTD_human_DG	17676042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral atrophy	Cerebral Atrophy	BEFREE	27003210, 31408457		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	32727516	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	34752346, 35135506	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colitis	Colitis	BEFREE	26195312		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	19695096		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	17699764		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26195312		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19695096	Associate	★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	CTD_human_DG	17676042		★☆☆☆☆ Found in Text Mining only
Congenital Myotonic Dystrophy	Congenital Myotonic Dystrophy	BEFREE	21623381		★☆☆☆☆ Found in Text Mining only
Congenital Structural Myopathy	Congenital Structural Myopathy	LHGDN	17676042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Structural Myopathy	Congenital Structural Myopathy	CTD_human_DG	17676042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	24590001, 26578114, 27888388, 31043634, 31837094		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	24205320		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	Pubtator	30830563, 32568785, 36191742	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia Vascular	Vascular dementia	Pubtator	30830563	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	26947052	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	26947052		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	26631617		★☆☆☆☆ Found in Text Mining only
External Ophthalmoplegia	External Ophthalmoplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	CTD_human_DG	21460841		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	24205320		★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	24670887		★☆☆☆☆ Found in Text Mining only
Generalized amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	32842621	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	22300662	Inhibit	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	24590001, 26578114, 27888388, 31043634, 31837094		★☆☆☆☆ Found in Text Mining only
Hemangioma, Cavernous	Hemangioma, Cavernous	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	26194865	Associate	★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	26194865		★☆☆☆☆ Found in Text Mining only
Hip Contracture	Hip Contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	24176626, 27005436		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	CTD_human_DG	30503753		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10616529, 22281836, 31815296		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	10616529		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	LHGDN	17699764		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	24871463	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	16143398, 24871463		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	19211505, 25578476		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10652430, 8782822		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31815296		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10738240, 11032017, 28152502		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10616529, 11032017, 19695096, 20927630, 21678469, 22281836, 30733337, 31478261, 8782822		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	19695096		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17210688, 17218774		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	8782822		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10449755, 11032017		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	10449755		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	10738240		★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	30503753, 30983028		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	CTD_human_DG	30503753		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	27488240	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	26194865		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	GWASDB_DG	21211798		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	23754947, 26506308, 31449669		★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, 1	Myopathy	CTD_human_DG	17676042		★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, Autosomal Dominant	Myopathy	CTD_human_DG	17676042		★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, Autosomal Dominant	Myopathy	BEFREE	25260562		★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, Autosomal Dominant	Myopathy	ORPHANET_DG	25260562		★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, Autosomal Recessive	Myopathy	BEFREE	17676042, 21129173, 23754947		★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, Autosomal Recessive	Myopathy	GENOMICS_ENGLAND_DG	17676042		★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, Autosomal Recessive	Myopathy	ORPHANET_DG	17676042		★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, Autosomal Recessive	Myopathy	CLINVAR_DG	17676042, 20142620, 24549043, 24755653, 29950440		★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, Autosomal Recessive	Myopathy	UNIPROT_DG	17676042, 20142620, 24755653, 29950440		★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, Autosomal Recessive	Myopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	21623381, 25262827		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	25024306	Associate	★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10380878, 10449755, 10652430, 10738240, 11032017, 11306501, 17310252, 19211505, 20927630, 21678469, 22281836, 22544318, 25683635, 28152502, 28714960, 30733337, 30885349, 31496920, 31815296, 8782822		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	16516635, 18082705, 23399914, 24205320		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	32539856	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28714960, 31478261, 31496920		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	35469824	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36068586	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	26233692		★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	CTD_human_DG	21460841		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	24205320		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10738240		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	10738240		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	10738240		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32345668, 32568785	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	22544318		★☆☆☆☆ Found in Text Mining only
Rigid spine syndrome	Rigid spine muscular dystrophy	Pubtator	29950440	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	BEFREE	25578476		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	25683635, 28152502		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	30260023	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	30830563	Associate	★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	28893863, 30487734		★☆☆☆☆ Found in Text Mining only
Tubular Aggregate Myopathy	Tubular Aggregate Myopathy	CTD_human_DG	17676042		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	26195312, 30269357, 31211444		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	40016843	Associate	★☆☆☆☆ Found in Text Mining only
X-linked centronuclear myopathy	Centronuclear Myopathy, X-Linked	CTD_human_DG	17676042		★☆☆☆☆ Found in Text Mining only
X-linked centronuclear myopathy	Centronuclear Myopathy, X-Linked	BEFREE	19084976		★☆☆☆☆ Found in Text Mining only