NUP214 (nucleoporin 214)

Gene

• Entrez ID: 8021
• Gene name: Nucleoporin 214
• Gene symbol: NUP214
• Synonyms (NCBI Gene): CAIN, CAN, IIAE9
• Chromosome: 9
• Chromosome location: 9q34.13
• Summary: The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex i

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs143595616	C>T	Likely-pathogenic, risk-factor	Missense variant, genic upstream transcript variant, coding sequence variant
rs563025075	C>G,T	Risk-factor	Missense variant, genic upstream transcript variant, coding sequence variant
rs1135402758	T>-	Likely-pathogenic	Intron variant
rs1210153519	C>-,CC	Risk-factor	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1564175808	A>G	Risk-factor	Genic upstream transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT032370	hsa-let-7b-5p	Proteomics	18668040
MIRT032370	hsa-let-7b-5p	CLASH	23622248
MIRT050542	hsa-miR-20a-5p	CLASH	23622248
MIRT050464	hsa-miR-22-3p	CLASH	23622248
MIRT046465	hsa-miR-15b-5p	CLASH	23622248
MIRT045641	hsa-miR-149-5p	CLASH	23622248
MIRT043751	hsa-miR-328-3p	CLASH	23622248
MIRT043374	hsa-miR-331-3p	CLASH	23622248
MIRT041295	hsa-miR-193b-3p	CLASH	23622248
MIRT041295	hsa-miR-193b-3p	CLASH	23622248
MIRT619455	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT619453	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT619452	hsa-miR-520f-5p	HITS-CLIP	23824327
MIRT619451	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT663320	hsa-miR-767-3p	HITS-CLIP	23824327
MIRT663319	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT619455	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT619453	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT619452	hsa-miR-520f-5p	HITS-CLIP	23824327
MIRT619451	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT646427	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT619455	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT619454	hsa-miR-618	HITS-CLIP	23824327
MIRT619453	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT619452	hsa-miR-520f-5p	HITS-CLIP	23824327
MIRT619451	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT440073	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440073	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT619455	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT619453	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT619452	hsa-miR-520f-5p	HITS-CLIP	23824327
MIRT619451	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT663320	hsa-miR-767-3p	HITS-CLIP	23824327
MIRT663319	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT619455	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT619453	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT619452	hsa-miR-520f-5p	HITS-CLIP	23824327
MIRT619451	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT646427	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT619455	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT619454	hsa-miR-618	HITS-CLIP	23824327
MIRT619453	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT619452	hsa-miR-520f-5p	HITS-CLIP	23824327
MIRT619451	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT1199302	hsa-miR-3163	CLIP-seq
MIRT1199303	hsa-miR-4787-3p	CLIP-seq
MIRT2286122	hsa-miR-3689a-3p	CLIP-seq
MIRT2286123	hsa-miR-3689c	CLIP-seq
MIRT2286124	hsa-miR-4668-5p	CLIP-seq
MIRT2286125	hsa-miR-4728-5p	CLIP-seq
MIRT1199302	hsa-miR-3163	CLIP-seq
MIRT2286122	hsa-miR-3689a-3p	CLIP-seq
MIRT2286123	hsa-miR-3689c	CLIP-seq
MIRT2584024	hsa-miR-4261	CLIP-seq
MIRT2584025	hsa-miR-4494	CLIP-seq
MIRT2584026	hsa-miR-452	CLIP-seq
MIRT2286124	hsa-miR-4668-5p	CLIP-seq
MIRT2584027	hsa-miR-4676-3p	CLIP-seq
MIRT2584028	hsa-miR-4727-3p	CLIP-seq
MIRT2286125	hsa-miR-4728-5p	CLIP-seq
MIRT2584029	hsa-miR-633	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005049	Function	Nuclear export signal receptor activity	IDA	10358091
GO:0005515	Function	Protein binding	IPI	11545741, 11777942, 14766228, 19208808, 19219046, 30021884, 30543681, 33961781, 35271311
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	24315095
GO:0005635	Component	Nuclear envelope	IEA
GO:0005643	Component	Nuclear pore	IBA
GO:0005643	Component	Nuclear pore	IEA
GO:0005643	Component	Nuclear pore	NAS	24315095
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006405	Process	RNA export from nucleus	IBA
GO:0006406	Process	MRNA export from nucleus	IEA
GO:0006406	Process	MRNA export from nucleus	IEA
GO:0006406	Process	MRNA export from nucleus	IMP	10557333
GO:0006606	Process	Protein import into nucleus	IBA
GO:0006606	Process	Protein import into nucleus	IEA
GO:0006611	Process	Protein export from nucleus	IMP	12191473
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006913	Process	Nucleocytoplasmic transport	NAS	27016207
GO:0008139	Function	Nuclear localization sequence binding	IBA
GO:0008139	Function	Nuclear localization sequence binding	IEA
GO:0015031	Process	Protein transport	IEA
GO:0017056	Function	Structural constituent of nuclear pore	IBA
GO:0017056	Function	Structural constituent of nuclear pore	IEA
GO:0046822	Process	Regulation of nucleocytoplasmic transport	IMP	11000203
GO:0051028	Process	MRNA transport	IEA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:1990876	Component	Cytoplasmic side of nuclear pore	IDA	8108440

Other IDs

• MIM: 114350
• HGNC: 8064
• e!Ensembl: ENSG00000126883

Protein

• UniProt ID: P35658
• Protein name: Nuclear pore complex protein Nup214 (214 kDa nucleoporin) (Nucleoporin Nup214) (Protein CAN)
• Protein function: Part of the nuclear pore complex (PubMed:9049309). Has a critical role in nucleocytoplasmic transport (PubMed:31178128). May serve as a docking site in the receptor-mediated import of substrates across the nuclear pore complex (PubMed:31178128,
• PDB: 2OIT, 3FHC, 3FMO, 3FMP, 5DIS, 7R5J, 7R5K
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18617	Nup214_FG	1915 → 1977	Nucleoporin Nup214 phenylalanine-glycine (FG) domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in thymus, spleen, bone marrow, kidney, brain and testis, but hardly in all other tissues or in whole embryos during development.
• Sequence:

  MGDEMDAMIPEREMKDFQFRALKKVRIFDSPEELPKERSSLLAVSNKYGLVFAGGASGLQ
  IFPTKNLLIQNKPGDDPNKIVDKVQGLLVPMKFPIHHLALSCDNLTLSACMMSSEYGSII
  AFFDVRTFSNEAKQQKRPFAYHKLLKDAGGMVIDMKWNPTVPSMVAVCLADGSIAVLQVT
  ETVKVCATLPSTVAVTSVCWSPKGKQLAVGKQNGTVVQYLPTLQEKKVIPCPPFYESDHP
  VRVLDVLWIGTYVFAIVYAAADGTLETSPDVVMALLPKKEEKHPEIFVNFMEPCYGSCTE
  RQHHYYLSYIEEWDLVLAASAASTEVSILARQSDQINWESWLLEDSSRAELPVTDKSDDS
  LPMGVVVDYTNQVEITISDEKTLPPAPVLMLLSTDGVLCPFYMINQNPGVKSLIKTPERL
  SLEGERQPKSPGSTPTTPTSSQAPQKLDASAAAAPASLPPSSPAAPIATFSLLPAGGAPT
  VFSFGSSSLKSSATVTGEPPSYSSGSDSSKAAPGPGPSTFSFVPPSKASLAPTPAASPVA
  PSAASFSFGSSGFKPTLESTPVPSVSAPNIAMKPSFPPSTSAVKVNLSEKFTAAATSTPV
  SSSQSAPPMSPFSSASKPAASGPLSHPTPLSAPPSSVPLKSSVLPSPSGRSAQGSSSPVP
  SMVQKSPRITPPAAKPGSPQAKSLQPAVAEKQGHQWKDSDPVMAGIGEEIAHFQKELEEL
  KARTSKACFQVGTSEEMKMLRTESDDLHTFLLEIKETTESLHGDISSLKTTLLEGFAGVE
  EAREQNERNRDSGYLHLLYKRPLDPKSEAQLQEIRRLHQYVKFAVQDVNDVLDLEWDQHL
  EQKKKQRHLLVPERETLFNTLANNREIINQQRKRLNHLVDSLQQLRLYKQTSLWSLSSAV
  PSQSSIHSFDSDLESLCNALLKTTIESHTKSLPKVPAKLSPMKQAQLRNFLAKRKTPPVR
  STAPASLSRSAFLSQRYYEDLDEVSSTSSVSQSLESEDARTSCKDDEAVVQAPRHAPVVR
  TPSIQPSLLPHAAPFAKSHLVHGSSPGVMGTSVATSASKIIPQGADSTMLATKTVKHGAP
  SPSHPISAPQAAAAAALRRQMASQAPAVNTLTESTLKNVPQVVNVQELKNNPATPSTAMG
  SSVPYSTAKTPHPVLTPVAANQAKQGSLINSLKPSGPTPASGQLSSGDKASGTAKIETAV
  TSTPSASGQFSKPFSFSPSGTGFNFGIITPTPSSNFTAAQGATPSTKESSQPDAFSSGGG
  SKPSYEAIPESSPPSGITSASNTTPGEPAASSSRPVAPSGTALSTTSSKLETPPSKLGEL
  LFPSSLAGETLGSFSGLRVGQADDSTKPTNKASSTSLTSTQPTKTSGVPSGFNFTAPPVL
  GKHTEPPVTSSATTTSVAPPAATSTSSTAVFGSLPVTSAGSSGVISFGGTSLSAGKTSFS
  FGSQQTNSTVPPSAPPPTTAATPLPTSFPTLSFGSLLSSATTPSLPMSAGRSTEEATSSA
  LPEKPGDSEVSASAASLLEEQQSAQLPQAPPQTSDSVKKEPVLAQPAVSNSGTAASSTSL
  VALSAEATPATTGVPDARTEAVPPASSFSVPGQTAVTAAAISSAGPVAVETSSTPIASST
  TSIVAPGPSAEAAAFGTVTSGSSVFAQPPAASSSSAFNQLTNNTATAPSATPVFGQVAAS
  TAPSLFGQQTGSTASTAAATPQVSSSGFSSPAFGTTAPGVFGQTTFGQASVFGQSASSAA
  SVFSFSQPGFSSVPAFGQPASSTPTSTSGSVFGAASSTSSSSSFSFGQSSPNTGGGLFGQ
  SNAPAFGQSPGFGQGGSVFGGTSAATTTAATSGFSFCQASGFGSSNTGSVFGQAASTGGI
  VFGQQSSSSSGSVFGSGNTGRGGGFFSGLGGKPSQDAANKNPFSSASGGFGSTATSNTSN
  LFGNSGAKTFGGFASSSFGEQKPTGTFSSGGGSVASQGFGFSSPNKTGGFGAAPVFGSPP
  TFGGSPGFGGVPAFGSAPAFTSPLGSTGGKVFGEGTAAASAGGFGFGSSSNTTSFGTLAS
  QNAPTFGSLSQQTSGFGTQSSGFSGFGSGTGGFSFGSNNSSVQGFGGWRS

• Sequence length: 2090

Pathways

KEGG:

Nucleocytoplasmic transport
Amyotrophic lateral sclerosis

Reactome:

ISG15 antiviral mechanism
Transport of the SLBP independent Mature mRNA
Transport of the SLBP Dependant Mature mRNA
Transport of Mature mRNA Derived from an Intronless Transcript
Transport of Mature mRNA derived from an Intron-Containing Transcript
Rev-mediated nuclear export of HIV RNA
Transport of Ribonucleoproteins into the Host Nucleus
NS1 Mediated Effects on Host Pathways
Viral Messenger RNA Synthesis
NEP/NS2 Interacts with the Cellular Export Machinery
Regulation of Glucokinase by Glucokinase Regulatory Protein
Vpr-mediated nuclear import of PICs
snRNP Assembly
SUMOylation of DNA damage response and repair proteins
SUMOylation of ubiquitinylation proteins
Nuclear Pore Complex (NPC) Disassembly
Regulation of HSF1-mediated heat shock response
SUMOylation of SUMOylation proteins
HuR (ELAVL1) binds and stabilizes mRNA
SUMOylation of chromatin organization proteins
SUMOylation of RNA binding proteins
SUMOylation of DNA replication proteins
Transcriptional regulation by small RNAs
Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
tRNA processing in the nucleus
HCMV Early Events
HCMV Late Events

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
Congenital anomaly of face	Likely pathogenic	rs1135402758	RCV000497237	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental delay	Likely pathogenic	rs1135402758	RCV000497237	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Encephalopathy, acute, infection-induced, susceptibility to, 9	Likely pathogenic; Pathogenic	rs2538417680, rs143595616, rs563025075, rs1210153519	RCV003225673 RCV000785780 RCV000785781 RCV000785782	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Growth delay	Likely pathogenic	rs1135402758	RCV000497237	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NUP214-related disorder	Likely pathogenic	rs143224806	RCV003231006	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive microcephaly	Likely pathogenic; Pathogenic	rs143595616	RCV000714270	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Recurrent encephalopathy	Likely pathogenic; Pathogenic	rs143595616	RCV000714270	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, ACUTE LYMPHOBLASTIC	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, ACUTE MYELOID	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal encephalopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	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	27821800, 29067094, 30125757, 30669574, 31186352		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	27065320, 29344131		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia with t(6;9)(p23;q34)	Myeloid Leukemia With T(6;9)(P23;Q34)	Orphanet			★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	17233820, 20682390		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	30125757, 30669574		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	25128083		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	35355568	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27506935, 29372033		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27506935	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	27114368	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	31178128	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	29219890, 30125757, 30669574		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	25128083		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	15973457, 21720744		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	31472262		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29483668	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental regression	Developmental regression	GENOMICS_ENGLAND_DG	30758658		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	30758658		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	30758658		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	24657637, 30361777		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	37833906	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	29483668	Associate	★☆☆☆☆ Found in Text Mining only
L2 Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	14671643		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	1549122, 24073922, 27114368, 27317766, 27613868, 32664447, 33327316, 34320268	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	18181180, 18401417, 19166587, 24657637, 27317766, 29109093, 30669574		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	24441146	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	1549122, 19166587, 2370860, 24441146, 28318095, 30809988, 31755865, 32664447, 33327316, 33558656, 35941390, 36288392, 37833906, 39361146	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	15973457, 18976025, 19166587, 24073922, 24441146, 24657637, 25128083, 25605311, 25765544, 26517539, 27065320, 28318095, 29344131, 30669574, 31755865, 9858599		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	17296573		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27506935, 29372033		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15361874, 18401417, 25743594		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	27407063		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	30758658		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	GENOMICS_ENGLAND_DG	30758658		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	31178128	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	24441146		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	24441146, 28318095		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	24441146, 28318095, 33558656	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	24441146		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19577736		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	24441146	Associate	★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	27821800, 29067094		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor T-cell acute lymphoblastic leukemia	Lymphoblastic Leukemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	15361874, 16873673, 18185524, 18299449, 18401417, 18784740, 18835836, 18923437, 19166587, 20065082, 20073070, 20682390, 21435002, 21880637, 23872305, 24449214, 29067094		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	ORPHANET_DG	29279377		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	31472262		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	19946248		★☆☆☆☆ Found in Text Mining only