SMARCA1 (SNF2 related chromatin remodeling ATPase 1)

Gene

• Entrez ID: 6594
• Gene name: SNF2 related chromatin remodeling ATPase 1
• Gene symbol: SMARCA1
• Synonyms (NCBI Gene): ISWI, NURF140, SNF2L, SNF2L1, SNF2LB, SNF2LT, SWI, SWI2, hSNF2L
• Chromosome: X
• Chromosome location: Xq25-q26.1
• Summary: This gene encodes a member of the SWI/SNF family of proteins. The encoded protein is an ATPase which is expressed in diverse tissues and contributes to the chromatin remodeling complex that is involved in transcription. The protein may also play a role in

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1060499736	G>A	Likely-pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019340	hsa-miR-148b-3p	Microarray	17612493
MIRT021323	hsa-miR-9-5p	Microarray	17612493
MIRT023690	hsa-miR-1-3p	Proteomics	18668040
MIRT028492	hsa-miR-30a-5p	Proteomics	18668040
MIRT032345	hsa-let-7b-5p	Proteomics	18668040
MIRT1371405	hsa-miR-3136-3p	CLIP-seq
MIRT1371406	hsa-miR-4694-3p	CLIP-seq
MIRT1371407	hsa-miR-522	CLIP-seq
MIRT2110175	hsa-miR-1248	CLIP-seq
MIRT2110176	hsa-miR-144	CLIP-seq
MIRT1371405	hsa-miR-3136-3p	CLIP-seq
MIRT2110177	hsa-miR-3180-5p	CLIP-seq
MIRT2333769	hsa-miR-3124-3p	CLIP-seq
MIRT1371405	hsa-miR-3136-3p	CLIP-seq
MIRT2628013	hsa-miR-101	CLIP-seq
MIRT2628014	hsa-miR-1179	CLIP-seq
MIRT2628015	hsa-miR-1290	CLIP-seq
MIRT2628016	hsa-miR-1292	CLIP-seq
MIRT2628017	hsa-miR-142-5p	CLIP-seq
MIRT2110176	hsa-miR-144	CLIP-seq
MIRT2628018	hsa-miR-203	CLIP-seq
MIRT2628019	hsa-miR-2117	CLIP-seq
MIRT2628020	hsa-miR-28-3p	CLIP-seq
MIRT2628021	hsa-miR-3163	CLIP-seq
MIRT2628022	hsa-miR-320a	CLIP-seq
MIRT2628023	hsa-miR-320b	CLIP-seq
MIRT2628024	hsa-miR-320c	CLIP-seq
MIRT2628025	hsa-miR-320d	CLIP-seq
MIRT2628026	hsa-miR-330-3p	CLIP-seq
MIRT2628027	hsa-miR-340	CLIP-seq
MIRT2628028	hsa-miR-3617	CLIP-seq
MIRT2628029	hsa-miR-369-3p	CLIP-seq
MIRT2628030	hsa-miR-374c	CLIP-seq
MIRT2628031	hsa-miR-3927	CLIP-seq
MIRT2628032	hsa-miR-410	CLIP-seq
MIRT2628033	hsa-miR-4274	CLIP-seq
MIRT2628034	hsa-miR-4422	CLIP-seq
MIRT2628035	hsa-miR-4426	CLIP-seq
MIRT2628036	hsa-miR-4429	CLIP-seq
MIRT2628037	hsa-miR-4471	CLIP-seq
MIRT2628038	hsa-miR-4519	CLIP-seq
MIRT2628039	hsa-miR-4643	CLIP-seq
MIRT2628040	hsa-miR-4647	CLIP-seq
MIRT2628041	hsa-miR-4650-3p	CLIP-seq
MIRT2628042	hsa-miR-466	CLIP-seq
MIRT2628043	hsa-miR-4662b	CLIP-seq
MIRT2628044	hsa-miR-4696	CLIP-seq
MIRT2628045	hsa-miR-4699-5p	CLIP-seq
MIRT2628046	hsa-miR-4709-3p	CLIP-seq
MIRT2628047	hsa-miR-4731-3p	CLIP-seq
MIRT2628048	hsa-miR-4753-3p	CLIP-seq
MIRT2628049	hsa-miR-4789-3p	CLIP-seq
MIRT2628050	hsa-miR-4801	CLIP-seq
MIRT2628051	hsa-miR-494	CLIP-seq
MIRT2628052	hsa-miR-503	CLIP-seq
MIRT2628053	hsa-miR-607	CLIP-seq
MIRT2628054	hsa-miR-641	CLIP-seq
MIRT2628055	hsa-miR-651	CLIP-seq
MIRT2628056	hsa-miR-655	CLIP-seq
MIRT2628021	hsa-miR-3163	CLIP-seq
MIRT2628021	hsa-miR-3163	CLIP-seq
MIRT2628013	hsa-miR-101	CLIP-seq
MIRT2628014	hsa-miR-1179	CLIP-seq
MIRT2628015	hsa-miR-1290	CLIP-seq
MIRT2628016	hsa-miR-1292	CLIP-seq
MIRT2628017	hsa-miR-142-5p	CLIP-seq
MIRT2110176	hsa-miR-144	CLIP-seq
MIRT2628018	hsa-miR-203	CLIP-seq
MIRT2628019	hsa-miR-2117	CLIP-seq
MIRT2628020	hsa-miR-28-3p	CLIP-seq
MIRT2628021	hsa-miR-3163	CLIP-seq
MIRT2628022	hsa-miR-320a	CLIP-seq
MIRT2628023	hsa-miR-320b	CLIP-seq
MIRT2628024	hsa-miR-320c	CLIP-seq
MIRT2628025	hsa-miR-320d	CLIP-seq
MIRT2628026	hsa-miR-330-3p	CLIP-seq
MIRT2628027	hsa-miR-340	CLIP-seq
MIRT2628028	hsa-miR-3617	CLIP-seq
MIRT2628029	hsa-miR-369-3p	CLIP-seq
MIRT2628030	hsa-miR-374c	CLIP-seq
MIRT2628031	hsa-miR-3927	CLIP-seq
MIRT2628034	hsa-miR-4422	CLIP-seq
MIRT2628035	hsa-miR-4426	CLIP-seq
MIRT2628036	hsa-miR-4429	CLIP-seq
MIRT2628037	hsa-miR-4471	CLIP-seq
MIRT2628039	hsa-miR-4643	CLIP-seq
MIRT2628040	hsa-miR-4647	CLIP-seq
MIRT2628041	hsa-miR-4650-3p	CLIP-seq
MIRT2628042	hsa-miR-466	CLIP-seq
MIRT2628043	hsa-miR-4662b	CLIP-seq
MIRT2628045	hsa-miR-4699-5p	CLIP-seq
MIRT2628046	hsa-miR-4709-3p	CLIP-seq
MIRT2628047	hsa-miR-4731-3p	CLIP-seq
MIRT2628048	hsa-miR-4753-3p	CLIP-seq
MIRT2628049	hsa-miR-4789-3p	CLIP-seq
MIRT2628050	hsa-miR-4801	CLIP-seq
MIRT2628051	hsa-miR-494	CLIP-seq
MIRT2628052	hsa-miR-503	CLIP-seq
MIRT2691411	hsa-miR-548aa	CLIP-seq
MIRT2628053	hsa-miR-607	CLIP-seq
MIRT2628054	hsa-miR-641	CLIP-seq
MIRT2628056	hsa-miR-655	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SP1	Unknown	18243132

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IBA
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IBA
GO:0004386	Function	Helicase activity	IEA
GO:0004386	Function	Helicase activity	TAS	1408766
GO:0005515	Function	Protein binding	IPI	14609955, 15640247, 26030138, 30021884, 35271311
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	14609955
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	14609955
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IDA	14609955, 15640247
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	14609955
GO:0007420	Process	Brain development	IMP	14609955
GO:0007420	Process	Brain development	NAS	14609955
GO:0008094	Function	ATP-dependent activity, acting on DNA	IDA	14609955
GO:0016589	Component	NURF complex	IDA	20850016
GO:0016589	Component	NURF complex	IEA
GO:0016589	Component	NURF complex	IPI	14609955
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030182	Process	Neuron differentiation	ISS
GO:0031491	Function	Nucleosome binding	IEA
GO:0031507	Process	Heterochromatin formation	IBA
GO:0036310	Function	ATP-dependent DNA/DNA annealing activity	IDA	22705370
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	14609955
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	14609955
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	27141965
GO:0090537	Component	CERF complex	IDA	15640247
GO:0090537	Component	CERF complex	IPI	15640247
GO:0140658	Function	ATP-dependent chromatin remodeler activity	IDA	15640247
GO:0140658	Function	ATP-dependent chromatin remodeler activity	IDA	15640247
GO:0140658	Function	ATP-dependent chromatin remodeler activity	IEA
GO:0140750	Function	Nucleosome array spacer activity	IBA
GO:1904949	Component	ATPase complex	IDA	14609955

Other IDs

• MIM: 300012
• HGNC: 11097
• e!Ensembl: ENSG00000102038

Protein

• UniProt ID: P28370
• Protein name: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 1 (SMARCA1) (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin A1) (EC 3.6.4.-) (Global transcription activator SNF2L1) (Nucleosome-remodeli
• Protein function: [Isoform 1]: ATPase that possesses intrinsic ATP-dependent chromatin-remodeling activity (PubMed:14609955, PubMed:15310751, PubMed:15640247, PubMed:28801535). ATPase activity is substrate-dependent, and is increased when nucleosomes are the subs
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13892	DBINO	43 → 116	DNA-binding domain	Domain
  PF00176	SNF2_N	186 → 466	SNF2 family N-terminal domain	Family
  PF00271	Helicase_C	486 → 612	Helicase conserved C-terminal domain	Family
  PF09110	HAND	758 → 856	HAND	Domain
  PF09111	SLIDE	913 → 1027	SLIDE	Domain

• Tissue specificity: TISSUE SPECIFICITY: [Isoform 1]: Expressed in lung, breast, kidney, ovary, skeletal muscle and brain. {ECO:0000269|PubMed:15310751}.; TISSUE SPECIFICITY: [Isoform 2]: Mainly expressed in non-neuronal tissues such as lung, breast, kidney, and ovary. {ECO:0
• Sequence:

  MEQDTAAVAATVAAADATATIVVIEDEQPGPSTSQEEGAAAAATEATAATEKGEKKKEKN
  VSSFQLKLAAKAPKSEKEMDPEYEEKMKADRAKRFEFLLKQTELFAHFIQPSAQKSPTSP
  LNMKLGRPRIKKDEKQSLISAGDYRHRRTEQEEDEELLSESRKTSNVCIRFEVSPSYVKG
  GPLRDYQIRGLNWLISLYENGVNGILADEMGLGKTLQTIALLGYLKHYRNIPGPHMVLVP
  KSTLHNWMNEFKRWVPSLRVICFVGDKDARAAFIRDEMMPGEWDVCVTSYEMVIKEKSVF
  KKFHWRYLVIDEAHRIKNEKSKLSEIVREFKSTNRLLLTGTPLQNNLHELWALLNFLLPD
  VFNSADDFDSWFDTKNCLGDQKLVERLHAVLKPFLLRRIKTDVEKSLPPKKEIKIYLGLS
  KMQREWYTKILMKDIDVLNSSGKMDKMRLLNILMQLRKCCNHPYLFDGAEPGPPYTTDEH
  IVSNSGKMVVLDKLLAKLKEQGSRVLIFSQMTRLLDILEDYCMWRGYEYCRLDGQTPHEE
  REDKFLEVEFLGQREAIEAFNAPNSSKFIFMLSTRAGGLGINLASADVVILYDSDWNPQV
  DLQAMDRAHRIGQKKPVRVFRLITDNTVEERIVERAEIKLRLDSIVIQQGRLIDQQSNKL
  AKEEMLQMIRHGATHVFASKESELTDEDITTILERGEKKTAEMNERLQKMGESSLRNFRM
  DIEQSLYKFEGEDYREKQKLGMVEWIEPPKRERKANYAVDAYFREALRVSEPKIPKAPRP
  PKQPNVQDFQFFPPRLFELLEKEILYYRKTIGYKVPRNPDIPNPALAQREEQKKIDGAEP
  LTPEETEEKEKLLTQGFTNWTKRDFNQFIKANEKYGRDDIDNIAREVEGKSPEEVMEYSA
  VFWERCNELQDIEKIMAQIERGEARIQRRISIKKALDAKIARYKAPFHQLRIQYGTSKGK
  NYTEEEDRFLICMLHKMGFDRENVYEELRQCVRNAPQFRFDWFIKSRTAMEFQRRCNTLI
  SLIEKENMEIEERERAEKKKRATKTPMVKFSAFS

• Sequence length: 1054

Pathways

KEGG:

ATP-dependent chromatin remodeling

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
Abnormal brain morphology	Likely pathogenic	rs1060499736	RCV000454288	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-syndromic X-linked intellectual disability	Likely pathogenic	rs2521753491, rs2521764639	RCV004584578 RCV004584579	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED NONSYNDROMIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMARCA1-related disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked intellectual disability	Uncertain significance	ClinVar ClinGen, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	24285714		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	19066270		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	28038711		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25855381, 28202515		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	30382367		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	19066270		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	28695822, 30382367		★☆☆☆☆ Found in Text Mining only
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED	alpha-Thalassemia Mental Retardation Syndrome, X-Linked	BEFREE	20110566, 23329831, 30649195		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	26126041, 26743474, 27562491, 28863077		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	30382367		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	29596882		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	23276717		★☆☆☆☆ Found in Text Mining only
Atypical Teratoid Rhabdoid Tumor	Teratoid Rhabdoid Tumor	BEFREE	27656868		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	24531329, 25169753, 26238514, 28330902		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30567752		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30138427		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23533649, 25733871		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	26437030, 30567752		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12324708, 26126041, 26551623, 27656868, 28038711		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30138427		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15735765, 16247481, 22721696, 25370573, 29892061, 30104769		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36126083	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	26743474		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30037854		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28000975		★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	CHARGE Syndrome	BEFREE	28330902		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	19066270, 27941797		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	29427621		★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	29689242		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	BEFREE	16772382, 18369450		★☆☆☆☆ Found in Text Mining only
Coffin-Siris syndrome	Coffin-Siris Syndrome	BEFREE	22426308, 23815551, 24700502, 27511161, 29397238, 29698805, 31658463		★☆☆☆☆ Found in Text Mining only
Coffin-Siris syndrome	Coffin-Siris Syndrome	CLINGEN_DG	26539891, 26740508		★☆☆☆☆ Found in Text Mining only
Coffin-Siris syndrome	Coffin-Siris Syndrome	GENOMICS_ENGLAND_DG	26740508		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	11904375, 12901794		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	36126083	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	12766908, 21102582, 30098595		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	24183004		★☆☆☆☆ Found in Text Mining only
Congenital Mesoblastic Nephroma	Congenital Mesoblastic Nephroma	BEFREE	30819530		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23416164, 24053427, 24817979, 26166446, 29218250, 29689242		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	31515212		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	30846435		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	26740508	Associate	★☆☆☆☆ Found in Text Mining only
Ectrodactyly	Ectrodactyly	Pubtator	22577152	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	26126041, 26743474, 28863077		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36126083	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	30037854		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	29236342		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	28838910		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23276717, 31473463		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23276717		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23276717, 28420882		★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid Receptor Deficiency	BEFREE	19066270		★☆☆☆☆ Found in Text Mining only
Histiocytoma, Angiomatoid Fibrous	Histiocytoma	BEFREE	30819530		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	30423378		★☆☆☆☆ Found in Text Mining only
Inflammatory Myofibroblastic Tumor	Inflammatory Myofibroblastic Tumor	BEFREE	30819530		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	22405089, 23010866, 26238514, 28884947, 29397238, 29698805, 30123105, 30649195, 30838730, 30923190, 31680852		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12665591, 24285714, 25789315		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10910076, 26802049, 27376689, 29483235		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	28683324		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22922871, 23088494, 24556940, 27351279, 28700662, 29097941		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	29427621		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	27737960		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	19176640		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	28064239		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	31680852		★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	22544318		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	30455436		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23533649, 25733871		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	23416164		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	27737960		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15735765, 22721696, 25370573, 29892061, 30104769		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	28683324		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30037854		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	22233809, 23229642, 23660946, 24585446		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17075831, 18559499, 24076601, 24165726		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22037554, 27102722		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30138427		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11790558, 11904375, 12149641, 16538531, 17546055, 18034322, 18437052, 18723114, 19234488, 19789351, 19808872, 19996304, 20137775, 21102582, 21654818, 21730156, 22139574, 22435813, 22577152, 22952240, 23010866, 23276717, 23698369, 23752187, 23872584, 23904343, 24122795, 24145903, 24556940, 24585446, 24853101, 25169151, 25203320, 25355421, 25387058, 25391308, 25656847, 25808524, 26073604, 26125128, 26370283, 26552009, 27593925, 27756662, 28138149, 28262751, 28292935, 28391084, 28521512, 28961249, 28967863, 29087303, 29391527, 29397238, 29482773, 29483235, 29730444, 30025943, 30286321, 30397315, 30447346, 30753823, 30897376, 31028182, 31077186, 31123059, 31819269		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	11904375, 12901794		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	29397238		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	30455436		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19149898, 19784067, 20083088, 20543574, 22508985, 23349796, 24940768, 25026375, 29045843		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	23377182		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	30649195		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	17957225, 18302774, 19088125		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	LHGDN	18302774		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	27686485		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	29596882		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28737171		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11790558, 11921280, 12082626, 12901794, 15769941, 15899790, 16538531, 16824695, 17075831, 18641990, 18710953, 19149898, 19176640, 19789351, 21521802, 21566516, 21900401, 22233809, 23208470, 23276717, 23355908, 23377182, 23435428, 23698369, 23936361, 24036443, 24122795, 24145903, 24183004, 24285714, 25169151, 25355421, 25387058, 25827435, 26067140, 26364901, 26370283, 26552009, 26802049, 27267444, 27827316, 28138149, 28249160, 28253716, 28256572, 28731042, 28754838, 28863077, 28885261, 29087303, 29136504, 29397238, 29482773, 29689242, 29892061, 30097580, 30138427, 30315093, 30755442, 30819530, 30962207, 30970016, 31722744		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30846435		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	22405089, 26238514, 26740508, 28124119, 29249292, 30879640, 31077186		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nicolaides Baraitser syndrome	Nicolaides Baraitser Syndrome	BEFREE	23906836		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24445599, 27827316, 28038711, 28555282, 30478150, 31630044		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	29427621		★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal Syndrome	BEFREE	31376231		★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	31376231	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	26059320		★☆☆☆☆ Found in Text Mining only
Ovarian clear cell carcinoma	Ovarian Carcinoma	BEFREE	27340867, 28728166		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30037854		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	22233809, 23229642, 23660946, 24585446		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28705819, 31612404		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	24561622		★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	28838910		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	19066270		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	31515212		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18559499, 24076601, 24165726		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	BEFREE	27001614		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	21248752, 23416164		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21248752, 24817979, 29689242		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	29236342		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	10602515, 11719516		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	26740508	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	10463572, 10556283, 11782395, 11921280, 12149641, 15769941, 15899790, 16288006, 16912184, 17040295, 20137775, 21521802, 22544318, 24913006, 25009291, 26646792, 27656868, 27941797, 30755442, 31015438		★☆☆☆☆ Found in Text Mining only
Rhabdoid tumor predisposition syndrome	Rhabdoid Tumor Predisposition Syndrome	BEFREE	24853101		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	23728344		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	28084340, 29359803		★☆☆☆☆ Found in Text Mining only
Sarcoma, Epithelioid	Sarcoma	BEFREE	26365879, 29309303, 31686193		★☆☆☆☆ Found in Text Mining only
Schimke immunoosseous dysplasia	Spondyloepiphyseal dysplasia nephrotic syndrome	BEFREE	25319549		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	19363039, 20457675		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schwannomatosis	Schwannomatosis	BEFREE	26073604		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	BEFREE	29334836		★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	21564052		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	26356327, 29397238, 29440177, 30037854, 31166966		★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	31686193		★☆☆☆☆ Found in Text Mining only
Solitary fibrous tumor	Solitary fibrous tumor	BEFREE	30819530		★☆☆☆☆ Found in Text Mining only
Spinal Meningioma	Spinal Meningioma	BEFREE	23377182		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	21564052, 28038711		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36126083	Associate	★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	29502955		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	25955282		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25808524		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	27656868, 28084340, 28863077		★☆☆☆☆ Found in Text Mining only
Vein of Galen aneurysm	Vein Of Galen Aneurysm	BEFREE	30423378		★☆☆☆☆ Found in Text Mining only