MYCBP2 (MYC binding protein 2)

Gene

• Entrez ID: 23077
• Gene name: MYC binding protein 2
• Gene symbol: MYCBP2
• Synonyms (NCBI Gene): Myc-bp2, PAM, PHR1, Phr
• Chromosome: 13
• Chromosome location: 13q22.3
• Summary: This gene encodes an E3 ubiquitin-protein ligase and member of the PHR (Phr1/MYCBP2, highwire and RPM-1) family of proteins. The encoded protein plays a role in axon guidance and synapse formation in the developing nervous system. In mammalian cells, this

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030878	hsa-miR-21-5p	Microarray	18591254
MIRT050846	hsa-miR-17-5p	CLASH	23622248
MIRT050846	hsa-miR-17-5p	CLASH	23622248
MIRT048178	hsa-miR-196a-5p	CLASH	23622248
MIRT048035	hsa-miR-148a-3p	CLASH	23622248
MIRT047123	hsa-miR-183-5p	CLASH	23622248
MIRT046460	hsa-miR-15b-5p	CLASH	23622248
MIRT721112	hsa-miR-606	HITS-CLIP	19536157
MIRT721111	hsa-miR-126-5p	HITS-CLIP	19536157
MIRT721110	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT721109	hsa-miR-496	HITS-CLIP	19536157
MIRT721108	hsa-miR-4795-3p	HITS-CLIP	19536157
MIRT721107	hsa-miR-6083	HITS-CLIP	19536157
MIRT440169	hsa-miR-493-3p	HITS-CLIP	24374217
MIRT440168	hsa-miR-487a-3p	HITS-CLIP	24374217
MIRT440167	hsa-miR-377-3p	HITS-CLIP	24374217
MIRT440169	hsa-miR-493-3p	HITS-CLIP	24374217
MIRT440168	hsa-miR-487a-3p	HITS-CLIP	24374217
MIRT440167	hsa-miR-377-3p	HITS-CLIP	24374217
MIRT721112	hsa-miR-606	HITS-CLIP	19536157
MIRT721111	hsa-miR-126-5p	HITS-CLIP	19536157
MIRT721110	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT721109	hsa-miR-496	HITS-CLIP	19536157
MIRT721108	hsa-miR-4795-3p	HITS-CLIP	19536157
MIRT721107	hsa-miR-6083	HITS-CLIP	19536157
MIRT1167735	hsa-miR-190	CLIP-seq
MIRT1167736	hsa-miR-190b	CLIP-seq
MIRT1167737	hsa-miR-1972	CLIP-seq
MIRT1167738	hsa-miR-27a	CLIP-seq
MIRT1167739	hsa-miR-27b	CLIP-seq
MIRT1167740	hsa-miR-3074-3p	CLIP-seq
MIRT1167741	hsa-miR-3689a-5p	CLIP-seq
MIRT1167742	hsa-miR-3689b	CLIP-seq
MIRT1167743	hsa-miR-3689e	CLIP-seq
MIRT1167744	hsa-miR-3689f	CLIP-seq
MIRT1167745	hsa-miR-3977	CLIP-seq
MIRT1167746	hsa-miR-4275	CLIP-seq
MIRT1167747	hsa-miR-4302	CLIP-seq
MIRT1167748	hsa-miR-4307	CLIP-seq
MIRT1167749	hsa-miR-4729	CLIP-seq
MIRT1167750	hsa-miR-513a-5p	CLIP-seq
MIRT1167751	hsa-miR-556-3p	CLIP-seq
MIRT1551473	hsa-miR-140-5p	CLIP-seq
MIRT2048400	hsa-miR-132	CLIP-seq
MIRT2048401	hsa-miR-212	CLIP-seq
MIRT2048402	hsa-miR-338-3p	CLIP-seq
MIRT2048403	hsa-miR-4496	CLIP-seq
MIRT2277222	hsa-miR-1827	CLIP-seq
MIRT2277223	hsa-miR-2276	CLIP-seq
MIRT2277224	hsa-miR-3155	CLIP-seq
MIRT2277225	hsa-miR-3155b	CLIP-seq
MIRT2277226	hsa-miR-323b-3p	CLIP-seq
MIRT2277227	hsa-miR-371-5p	CLIP-seq
MIRT1167748	hsa-miR-4307	CLIP-seq
MIRT2277228	hsa-miR-4696	CLIP-seq
MIRT2277229	hsa-miR-4797-3p	CLIP-seq
MIRT2277230	hsa-miR-484	CLIP-seq
MIRT2576128	hsa-miR-4286	CLIP-seq
MIRT2576128	hsa-miR-4286	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	26304119
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005515	Function	Protein binding	IPI	15161933, 15778465, 22357847, 24136289, 26496610, 27278822, 29293652, 35271311, 36931259
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	26304119
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IC	29997255
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0007411	Process	Axon guidance	IBA
GO:0008045	Process	Motor neuron axon guidance	IEA
GO:0008270	Function	Zinc ion binding	IDA	29643511
GO:0008270	Function	Zinc ion binding	IEA
GO:0008582	Process	Regulation of synaptic assembly at neuromuscular junction	IBA
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016567	Process	Protein ubiquitination	IDA	29643511
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	IMP	27278822
GO:0016740	Function	Transferase activity	IEA
GO:0021785	Process	Branchiomotor neuron axon guidance	IEA
GO:0021952	Process	Central nervous system projection neuron axonogenesis	IEA
GO:0021952	Process	Central nervous system projection neuron axonogenesis	ISS
GO:0030424	Component	Axon	IEA
GO:0031267	Function	Small GTPase binding	IDA	26304119
GO:0031398	Process	Positive regulation of protein ubiquitination	IDA	20534529
GO:0031398	Process	Positive regulation of protein ubiquitination	IEA
GO:0032880	Process	Regulation of protein localization	IEA
GO:0032922	Process	Circadian regulation of gene expression	IEA
GO:0032922	Process	Circadian regulation of gene expression	IMP	20534529
GO:0042177	Process	Negative regulation of protein catabolic process	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042995	Component	Cell projection	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048511	Process	Rhythmic process	IEA
GO:0048667	Process	Cell morphogenesis involved in neuron differentiation	IEA
GO:0050905	Process	Neuromuscular process	IEA
GO:0050905	Process	Neuromuscular process	ISS
GO:0051493	Process	Regulation of cytoskeleton organization	IEA
GO:0061564	Process	Axon development	ISS	30304512
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	29643511
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	29997255
GO:1902667	Process	Regulation of axon guidance	IEA
GO:1902667	Process	Regulation of axon guidance	ISS

Other IDs

• MIM: 610392
• HGNC: 23386
• e!Ensembl: ENSG00000005810

Protein

• UniProt ID: O75592
• Protein name: E3 ubiquitin-protein ligase MYCBP2 (EC 2.3.2.33) (Myc-binding protein 2) (Protein associated with Myc)
• Protein function: Atypical E3 ubiquitin-protein ligase which specifically mediates ubiquitination of threonine and serine residues on target proteins, instead of ubiquitinating lysine residues (PubMed:29643511). Shows esterification activity towards both threonin
• PDB: 5O6C, 6T7F
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13540	RCC1_2	683 → 712		Repeat
  PF00415	RCC1	958 → 1006	Regulator of chromosome condensation (RCC1) repeat	Repeat
  PF08005	PHR	1235 → 1385	PHR domain	Domain
  PF08005	PHR	1726 → 1883	PHR domain	Domain
  PF08239	SH3_3	2477 → 2543	Bacterial SH3 domain	Domain
  PF03256	ANAPC10	3724 → 3892	Anaphase-promoting complex, subunit 10 (APC10)	Family
  PF13639	zf-RING_2	4426 → 4479	Ring finger domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in all tissues examined, expression is exceptionally abundant in brain and thymus. Colocalizes with TSC1 and TSC2 along the neurites and in the growth cones. Highly expressed in peripheral and central neurons. Colocalized wit
• Sequence:

  MMMCAATASPAAASSGLGGDGFYPAATFSSSPAPGALFMPVPDGSVAAAGLGLGLPAADS
  RGHYQLLLSGRALADRYRRIYTAALNDRDQGGGSAGHPASRNKKILNKKKLKRKQKSKSK
  VKTRSKSENLENTVIIPDIKLHSNPSAFNIYCNVRHCVLEWQKKEISLAAASKNSVQSGE
  SDSDEEEESKEPPIKLPKIIEVGLCEVFELIKETRFSHPSLCLRSLQALLNVLQGQQPEG
  LQSEPPEVLESLFQLLLEITVRSTGMNDSTGQSLTALSCACLFSLVASWGETGRTLQAIS
  AILTNNGSHACQTIQVPTILNSLQRSVQAVLVGKIQIQDWFSNGIKKAALMHKWPLKEIS
  VDEDDQCLLQNDGFFLYLLCKDGLYKIGSGYSGTVRGHIYNSTSRIRNRKEKKSWLGYAQ
  GYLLYRDVNNHSMTAIRISPETLEQDGTVMLPDCHTEGQNILFTDGEYINQIAASRDDGF
  VVRIFATSTEPVLQQELQLKLARKCLHACGISLFDLEKDLHIISTGFDEESAILGAGREF
  ALMKTANGKIYYTGKYQSLGIKQGGPSAGKWVELPITKSPKIVHFSVGHDGSHALLVAED
  GSIFFTGSASKGEDGESTKSRRQSKPYKPKKIIKMEGKIVVYTACNNGSSSVISKDGELY
  MFGKDAIYSDSSSLVTDLKGHFVTQVAMGKAHTCVLMKNGEVWTFGVNNKGQCGRDTGAM
  NQGGKGFGVENMATAMDEDLEEELDEKDEKSMMCPPGMHKWKLEQCMVCTVCGDCTGYGA
  SCVSSGRPDRVPGGICGCGSGESGCAVCGCCKACARELDGQEARQRGILDAVKEMIPLDL
  LLAVPVPGVNIEEHLQLRQEEKRQRVIRRHRLEEGRGPLVFAGPIFMNHREQALARLRSH
  PAQLKHKRDKHKDGSGERGEKDASKITTYPPGSVRFDCELRAVQVSCGFHHSVVLMENGD
  VYTFGYGQHGQLGHGDVNSRGCPTLVQALPGPSTQVTAGSNHTAVLLMDGQVFTFGSFSK
  GQLGRPILDVPYWNAKPAPMPNIGSKYGRKATWIGASGDQTFLRIDEALINSHVLATSEI
  FASKHIIGLVPASISEPPPFKCLLINKVDGSCKTFNDSEQEDLQGFGVCLDPVYDVIWRF
  RPNTRELWCYNAVVADARLPSAADMQSRCSILSPELALPTGSRALTTRSHAALHILGCLD
  TLAAMQDLKMGVASTEEETQAVMKVYSKEDYSVVNRFESHGGGWGYSAHSVEAIRFSADT
  DILLGGLGLFGGRGEYTAKIKLFELGPDGGDHETDGDLLAETDVLAYDCAAREKYAMMFD
  EPVLLQAGWWYVAWARVSGPSSDCGSHGQASITTDDGVVFQFKSSKKSNNGTDVNAGQIP
  QLLYRLPTSDGSASKGKQQTSEPVHILKRSFARTVSVECFESLLSILHWSWTTLVLGVEE
  LRGLKGFQFTATLLDLERLRFVGTCCLRLLRVYTCEIYPVSATGKAVVEETSKLAECIGK
  TRTLLRKILSEGVDHCMVKLDNDPQGYLSQPLSLLEAVLQECHNTFTACFHSFYPTPALQ
  WACLCDLLNCLDQDIQEANFKTSSSRLLAAVMSALCHTSVKLTSIFPIAYDGEVLLRSIV
  KQVSTENDSTLVHRFPLLVAHMEKLSQSEENISGMTSFREVLEKMLVIVVLPVRNSLRRE
  NELFSSHLVSNTCGLLASIVSELTASALGSEVDGLNSLHSVKASANRFTKTSQGRSWNTG
  NGSPDAICFSVDKPGIVVVGFSVYGGGGIHEYELEVLVDDSEHAGDSTHSHRWTSLELVK
  GTYTTDDSPSDIAEIRLDKVVPLKENVKYAVRLRNYGSRTANGDGGMTTVQCPDGVTFTF
  STCSLSSNGTNQTRGQIPQILYYRSEFDGDLQSQLLSKANEEDKNCSRALSVVSTVVRAS
  KDLLHRALAVDADDIPELLSSSSLFSMLLPLIIAYIGPVAAAIPKVAVEVFGLVQQLLPS
  VAILNQKYAPPAFNPNQSTDSTTGNQPEQGLSACTTSSHYAVIESEHPYKPACVMHYKVT
  FPECVRWMTIEFDPQCGTAQSEDVLRLLIPVRTVQNSGYGPKLTSVHENLNSWIELKKFS
  GSSGWPTMVLVLPGNEALFSLETASDYVKDDKASFYGFKCFAIGYEFSPGPDEGVIQLEK
  ELANLGGVCAAALMKKDLALPIGNELEEDLEILEEAALQVCKTHSGILGKGLALSHSPTI
  LEALEGNLPLQIQSNEQSFLDDFIACVPGSSGGRLARWLQPDSYADPQKTSLILNKDDIR
  CGWPTTITVQTKDQYGDVVHVPNMKVEVKAVPVSQKKMSLQQDQAKKPQRIPGSPAVTAA
  SSNTDMTYGGLASPKLDVSYEPMIVKEARYIAITMMKVYENYSFEELRFASPTPKRPSEN
  MLIRVNNDGTYCANWTPGAIGLYTLHVTIDGIEIDAGLEVKVKDPPKGMIPPGTQLVKPK
  SEPQPNKVRKFVAKDSAGLRIRSHPSLQSEQIGIVKVNGTITFIDEIHNDDGVWLRLNDE
  TIKKYVPNMNGYTEAWCLSFNQHLGKSLLVPVDESKTNTDDFFKDINSCCPQEATMQEQD
  MPFLRGGPGMYKVVKTGPSGHNIRSCPNLRGIPIGMLVLGNKVKAVGEVTNSEGTWVQLD
  QNSMVEFCESDEGEAWSLARDRGGNQYLRHEDEQALLDQNSQTPPPSPFSVQAFNKGASC
  SAQGFDYGLGNSKGDRGNISTSSKPASTSGKSELSSKHSRSLKPDGRMSRTTADQKKPRG
  TESLSASESLILKSDAAKLRSDSHSRSLSPNHNTLQTLKSDGRMPSSSRAESPGPGSRLS
  SPKPKTLPANRSSPSGASSPRSSSPHDKNLPQKSTAPVKTKLDPPRERSKSDSYTLDPDT
  LRKKKMPLTEPLRGRSTSPKPKSVPKDSTDSPGSENRAPSPHVVQENLHSEVVEVCTSST
  LKTNSLTDSTCDDSSEFKSVDEGSNKVHFSIGKAPLKDEQEMRASPKISRKCANRHTRPK
  KEKSSFLFKGDGSKPLEPAKQAMSPSVAECARAVFASFLWHEGIVHDAMACSSFLKFHPE
  LSKEHAPIRSSLNSQQPTEEKETKLKNRHSLEISSALNMFNIAPHGPDISKMGSINKNKV
  LSMLKEPPLHEKCEDGKTETTFEMSMHNTMKSKSPLPLTLQHLVAFWEDISLATIKAASQ
  NMIFPSPGSCAVLKKKECEKENKKSKKEKKKKEKAEVRPRGNLFGEMAQLAVGGPEKDTI
  CELCGESHPYPVTYHMRQAHPGCGRYAGGQGYNSIGHFCGGWAGNCGDGGIGGSTWYLVC
  DRCREKYLREKQAAAREKVKQSRRKPMQVKTPRALPTMEAHQVIKANALFLLSLSSAAEP
  SILCYHPAKPFQSQLPSVKEGISEDLPVKMPCLYLQTLARHHHENFVGYQDDNLFQDEMR
  YLRSTSVPAPYISVTPDASPNVFEEPESNMKSMPPSLETSPITDTDLAKRTVFQRSYSVV
  ASEYDKQHSILPARVKAIPRRRVNSGDTEVGSSLLRHPSPELSRLISAHSSLSKGERNFQ
  WPVLAFVIQHHDLEGLEIAMKQALRKSACRVFAMEAFNWLLCNVIQTTSLHDILWHFVAS
  LTPAPVEPEEEEDEENKTSKENSEQEKDTRVCEHPLSDIVIAGEAAHPLPHTFHRLLQTI
  SDLMMSLPSGSSLQQMALRCWSLKFKQSDHQFLHQSNVFHHINNILSKSDDGDSEESFSI
  SIQSGFEAMSQELCIVMCLKDLTSIVDIKTSSRPAMIGSLTDGSTETFWESGDEDKNKTK
  NITINCVKGINARYVSVHVDNSRDLGNKVTSMTFLTGKAVEDLCRIKQVDLDSRHIGWVT
  SELPGGDNHIIKIELKGPENTLRVRQVKVLGWKDGESTKIAGQISASVAQQRNCEAETLR
  VFRLITSQVFGKLISGDAEPTPEQEEKALLSSPEGEEKVYNATSDADLKEHMVGIIFSRS
  KLTNLQKQVCAHIVQAIRMEATRVREEWEHAISSKENANSQPNDEDASSDAYCFELLSMV
  LALSGSNVGRQYLAQQLTLLQDLFSLLHTASPRVQRQVTSLLRRVLPEVTPSRLASIIGV
  KSLPPADISDIIHSTEKGDWNKLGILDMFLGCIAKALTVQLKAKGTTITGTAGTTVGKGV
  TTVTLPMIFNSSYLRRGESHWWMKGSTPTQISEIIIKLIKDMAAGHLSEAWSRVTKNAIA
  ETIIALTKMEEEFRSPVRCIATTRLWLALASLCVLDQDHVDRLSSGRWMGKDGQQKQMPM
  CDNHDDGETAAIILCNVCGNLCTDCDRFLHLHRRTKTHQRQVFKEEEEAIKVDLHEGCGR
  TKLFWLMALADSKTMKAMVEFREHTGKPTTSSSEACRFCGSRSGTELSAVGSVCSDADCQ
  EYAKIACSKTHPCGHPCGGVKNEEHCLPCLHGCDKSATSLKQDADDMCMICFTEALSAAP
  AIQLDCSHIFHLQCCRRVLENRWLGPRITFGFISCPICKNKINHIVLKDLLDPIKELYED
  VRRKALMRLEYEGLHKSEAITTPGVRFYNDPAGYAMNRYAYYVCYKCRKAYFGGEARCDA
  EAGRGDDYDPRELICGACSDVSRAQMCPKHGTDFLEYKCRYCCSVAVFFCFGTTHFCNAC
  HDDFQRMTSIPKEELPHCPAGPKGKQLEGTECPLHVVHPPTGEEFALGCGVCRNAHTF

• Sequence length: 4678

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder due to AUTS2 deficiency	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GASTRIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 26	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYCBP2-associated disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYCBP2-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREECLAMPSIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	9509510		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	26886259		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	11221851		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25937533		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	26517351, 9509510		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	31418046		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	11824969		★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	BEFREE	31418046		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	CTD_human_DG	19815072		★☆☆☆☆ Found in Text Mining only
Anxiety States, Neurotic	Anxiety Disorder	CTD_human_DG	19815072		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29206810		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	11221851		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	23589689		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25833211, 31227537		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	39988826	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	9689053	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36177006	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10413197		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28669653		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	9509510		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	22884155		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	30879092		★☆☆☆☆ Found in Text Mining only
Classical phenylketonuria	Phenylketonuria	BEFREE	29973227		★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	19815072		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28168856, 30318507		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21988782, 24959000, 29258112		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29194591	Associate	★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	19815072		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	8702008	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28705314		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	31234848		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	16622024		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28160187, 29763431, 30232587		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29548599		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29548599		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	24464100, 30054598		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	24464100, 30054598		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	29632382, 30054458, 30595370		★☆☆☆☆ Found in Text Mining only
Dysplastic Nevus	Dysplastic Nevus	BEFREE	3891875		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29206810		★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	19815072		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	25937533		★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	19815072		★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	BEFREE	30972774		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	11943713		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	11943713		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	11943713		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28705314		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	14559986		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	28129107		★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninaemia	Hyperphenylalaninemia	BEFREE	10051643		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	29162152	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29162152		★☆☆☆☆ Found in Text Mining only
Hypocupremia	Hypocupremia	BEFREE	9396570		★☆☆☆☆ Found in Text Mining only
Infantile myofibromatosis	myofibromatosis	BEFREE	8600777		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	29162152	Associate	★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	19815072		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	14559986		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	26517351		★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	26886259	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25937533		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	40065360	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	10413197		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	8794407	Associate	★☆☆☆☆ Found in Text Mining only
Lymphangioma	Lymphangioma	BEFREE	14559986		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	28769796		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25833211, 31227537		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	10413197		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25937533, 28196208, 28985716, 29764181, 30274721, 30863169, 30890760, 31433533, 31563863		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28168856, 29194591, 30318507		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	3891875		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	3891875		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Menkes Kinky Hair Syndrome	Menkes Kinky Hair Syndrome	BEFREE	9396570		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28160187, 29763431, 30232587		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	28106560		★☆☆☆☆ Found in Text Mining only
Motor Disorders	Motor Disorders	BEFREE	27913104		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	22819074		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	9973484		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	27174688		★☆☆☆☆ Found in Text Mining only
Myofibromatosis	Myofibromatosis	BEFREE	8600777		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15057971, 17149698, 21988782, 26848797, 27225591, 2890432, 29788427, 30890760, 8187161		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11507071, 17879237		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29116785		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	27441572		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	GWASCAT_DG	28892059		★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	28343264, 29628378, 29973227		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	37388215	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12949839		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32800727	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	29240630		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	2890432		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11824969, 31410215		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	2036813		★☆☆☆☆ Found in Text Mining only
Septic Toxemia	Septic Toxemia	GWASCAT_DG	23551011		★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	25634536		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	BEFREE	27113428		★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	19815072		★☆☆☆☆ Found in Text Mining only
Splenomegaly	Splenomegaly	Pubtator	26517351	Inhibit	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	28697900		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	29802961, 30790623		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	25832135		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	2357221		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	36582246	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	19815072		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	29206810		★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	19815072		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	23325447		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	23325447		★☆☆☆☆ Found in Text Mining only