NAT10 (N-acetyltransferase 10)

Gene

• Entrez ID: 55226
• Gene name: N-acetyltransferase 10
• Gene symbol: NAT10
• Synonyms (NCBI Gene): ALP, Kre33, NET43
• Chromosome: 11
• Chromosome location: 11p13
• Summary: The protein encoded by this gene is an RNA cytidine acetyltransferase involved in histone acetylation, tRNA acetylation, the biosynthesis of 18S rRNA, and the enhancement of nuclear architecture and chromatin organization. [provided by RefSeq, Oct 2016]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019738	hsa-miR-375	Microarray	20215506
MIRT045635	hsa-miR-149-5p	CLASH	23622248
MIRT573223	hsa-miR-512-5p	PAR-CLIP	20371350
MIRT573222	hsa-miR-510-5p	PAR-CLIP	20371350
MIRT573221	hsa-miR-5000-5p	PAR-CLIP	20371350
MIRT573220	hsa-miR-589-3p	PAR-CLIP	20371350
MIRT573219	hsa-miR-759	PAR-CLIP	20371350
MIRT573218	hsa-miR-4667-5p	PAR-CLIP	20371350
MIRT573217	hsa-miR-4700-5p	PAR-CLIP	20371350
MIRT573216	hsa-miR-8089	PAR-CLIP	20371350
MIRT573215	hsa-miR-3175	PAR-CLIP	20371350
MIRT573214	hsa-miR-1343-5p	PAR-CLIP	20371350
MIRT573213	hsa-miR-939-5p	PAR-CLIP	20371350
MIRT573212	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT573211	hsa-miR-3150a-3p	PAR-CLIP	20371350
MIRT573210	hsa-miR-6763-5p	PAR-CLIP	20371350
MIRT532067	hsa-miR-320e	PAR-CLIP	22012620
MIRT532066	hsa-miR-3064-5p	PAR-CLIP	22012620
MIRT532065	hsa-miR-6504-5p	PAR-CLIP	22012620
MIRT532064	hsa-miR-5580-5p	PAR-CLIP	22012620
MIRT532063	hsa-miR-4718	PAR-CLIP	22012620
MIRT532062	hsa-miR-7974	PAR-CLIP	22012620
MIRT532061	hsa-miR-4687-3p	PAR-CLIP	22012620
MIRT573223	hsa-miR-512-5p	PAR-CLIP	20371350
MIRT573222	hsa-miR-510-5p	PAR-CLIP	20371350
MIRT573221	hsa-miR-5000-5p	PAR-CLIP	20371350
MIRT573220	hsa-miR-589-3p	PAR-CLIP	20371350
MIRT573219	hsa-miR-759	PAR-CLIP	20371350
MIRT573218	hsa-miR-4667-5p	PAR-CLIP	20371350
MIRT573217	hsa-miR-4700-5p	PAR-CLIP	20371350
MIRT573216	hsa-miR-8089	PAR-CLIP	20371350
MIRT573215	hsa-miR-3175	PAR-CLIP	20371350
MIRT573214	hsa-miR-1343-5p	PAR-CLIP	20371350
MIRT573213	hsa-miR-939-5p	PAR-CLIP	20371350
MIRT573212	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT573211	hsa-miR-3150a-3p	PAR-CLIP	20371350
MIRT573210	hsa-miR-6763-5p	PAR-CLIP	20371350
MIRT532067	hsa-miR-320e	PAR-CLIP	22012620
MIRT532066	hsa-miR-3064-5p	PAR-CLIP	22012620
MIRT532065	hsa-miR-6504-5p	PAR-CLIP	22012620
MIRT532064	hsa-miR-5580-5p	PAR-CLIP	22012620
MIRT532063	hsa-miR-4718	PAR-CLIP	22012620
MIRT532062	hsa-miR-7974	PAR-CLIP	22012620
MIRT532061	hsa-miR-4687-3p	PAR-CLIP	22012620
MIRT1174287	hsa-miR-132	CLIP-seq
MIRT1174288	hsa-miR-212	CLIP-seq
MIRT1174289	hsa-miR-3140-3p	CLIP-seq
MIRT1174290	hsa-miR-3174	CLIP-seq
MIRT1174291	hsa-miR-3606	CLIP-seq
MIRT1174292	hsa-miR-455-3p	CLIP-seq
MIRT1174293	hsa-miR-4693-3p	CLIP-seq
MIRT1174294	hsa-miR-921	CLIP-seq
MIRT1174295	hsa-miR-935	CLIP-seq
MIRT1174296	hsa-miR-1236	CLIP-seq
MIRT1174297	hsa-miR-147	CLIP-seq
MIRT1174298	hsa-miR-149	CLIP-seq
MIRT1174299	hsa-miR-24	CLIP-seq
MIRT1174290	hsa-miR-3174	CLIP-seq
MIRT1174300	hsa-miR-320a	CLIP-seq
MIRT1174301	hsa-miR-320b	CLIP-seq
MIRT1174302	hsa-miR-320c	CLIP-seq
MIRT1174303	hsa-miR-320d	CLIP-seq
MIRT1174304	hsa-miR-330-3p	CLIP-seq
MIRT1174291	hsa-miR-3606	CLIP-seq
MIRT1174305	hsa-miR-3672	CLIP-seq
MIRT1174306	hsa-miR-3911	CLIP-seq
MIRT1174307	hsa-miR-4284	CLIP-seq
MIRT1174308	hsa-miR-4429	CLIP-seq
MIRT1174309	hsa-miR-4648	CLIP-seq
MIRT1174310	hsa-miR-4654	CLIP-seq
MIRT1174293	hsa-miR-4693-3p	CLIP-seq
MIRT1174311	hsa-miR-4753-3p	CLIP-seq
MIRT1174312	hsa-miR-4768-5p	CLIP-seq
MIRT1174313	hsa-miR-4769-5p	CLIP-seq
MIRT1174314	hsa-miR-548p	CLIP-seq
MIRT1174315	hsa-miR-644	CLIP-seq
MIRT1174294	hsa-miR-921	CLIP-seq
MIRT1174295	hsa-miR-935	CLIP-seq
MIRT1174287	hsa-miR-132	CLIP-seq
MIRT1174288	hsa-miR-212	CLIP-seq
MIRT1174289	hsa-miR-3140-3p	CLIP-seq
MIRT1174290	hsa-miR-3174	CLIP-seq
MIRT1174291	hsa-miR-3606	CLIP-seq
MIRT2050431	hsa-miR-3670	CLIP-seq
MIRT1174292	hsa-miR-455-3p	CLIP-seq
MIRT1174293	hsa-miR-4693-3p	CLIP-seq
MIRT2050432	hsa-miR-4757-5p	CLIP-seq
MIRT2050433	hsa-miR-545	CLIP-seq
MIRT1174294	hsa-miR-921	CLIP-seq
MIRT1174295	hsa-miR-935	CLIP-seq
MIRT1174287	hsa-miR-132	CLIP-seq
MIRT1174298	hsa-miR-149	CLIP-seq
MIRT2577727	hsa-miR-2115	CLIP-seq
MIRT1174288	hsa-miR-212	CLIP-seq
MIRT1174299	hsa-miR-24	CLIP-seq
MIRT2577728	hsa-miR-3124-5p	CLIP-seq
MIRT1174289	hsa-miR-3140-3p	CLIP-seq
MIRT2577729	hsa-miR-3173-3p	CLIP-seq
MIRT1174300	hsa-miR-320a	CLIP-seq
MIRT1174301	hsa-miR-320b	CLIP-seq
MIRT1174302	hsa-miR-320c	CLIP-seq
MIRT1174303	hsa-miR-320d	CLIP-seq
MIRT1174304	hsa-miR-330-3p	CLIP-seq
MIRT1174305	hsa-miR-3672	CLIP-seq
MIRT2577730	hsa-miR-3934	CLIP-seq
MIRT1174307	hsa-miR-4284	CLIP-seq
MIRT1174308	hsa-miR-4429	CLIP-seq
MIRT2577731	hsa-miR-4496	CLIP-seq
MIRT2577732	hsa-miR-4515	CLIP-seq
MIRT2577733	hsa-miR-4517	CLIP-seq
MIRT1174292	hsa-miR-455-3p	CLIP-seq
MIRT2050432	hsa-miR-4757-5p	CLIP-seq
MIRT2577734	hsa-miR-4779	CLIP-seq
MIRT1174314	hsa-miR-548p	CLIP-seq
MIRT1174298	hsa-miR-149	CLIP-seq
MIRT2577727	hsa-miR-2115	CLIP-seq
MIRT1174299	hsa-miR-24	CLIP-seq
MIRT2577728	hsa-miR-3124-5p	CLIP-seq
MIRT2577729	hsa-miR-3173-3p	CLIP-seq
MIRT1174300	hsa-miR-320a	CLIP-seq
MIRT1174301	hsa-miR-320b	CLIP-seq
MIRT1174302	hsa-miR-320c	CLIP-seq
MIRT1174303	hsa-miR-320d	CLIP-seq
MIRT1174304	hsa-miR-330-3p	CLIP-seq
MIRT1174305	hsa-miR-3672	CLIP-seq
MIRT2577730	hsa-miR-3934	CLIP-seq
MIRT1174307	hsa-miR-4284	CLIP-seq
MIRT1174308	hsa-miR-4429	CLIP-seq
MIRT2577731	hsa-miR-4496	CLIP-seq
MIRT2577733	hsa-miR-4517	CLIP-seq
MIRT2577734	hsa-miR-4779	CLIP-seq
MIRT1174314	hsa-miR-548p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IBA
GO:0000154	Process	RRNA modification	IEA
GO:0000154	Process	RRNA modification	TAS
GO:0000166	Function	Nucleotide binding	IEA
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0002101	Process	TRNA wobble cytosine modification	IBA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0005515	Function	Protein binding	IPI	25653167, 28514442, 30021884, 31722219, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	11214970
GO:0005654	Component	Nucleoplasm	TAS
GO:0005697	Component	Telomerase holoenzyme complex	IDA	18082603
GO:0005730	Component	Nucleolus	IBA
GO:0005730	Component	Nucleolus	IDA	18082603
GO:0005730	Component	Nucleolus	IEA
GO:0006364	Process	RRNA processing	IEA
GO:0006417	Process	Regulation of translation	IDA	35679869
GO:0006473	Process	Protein acetylation	IDA	31722219
GO:0008033	Process	TRNA processing	IEA
GO:0008080	Function	N-acetyltransferase activity	EXP	25411247, 25653167
GO:0008080	Function	N-acetyltransferase activity	IEA
GO:0009451	Process	RNA modification	IEA
GO:0010824	Process	Regulation of centrosome duplication	IDA	31722219
GO:0016020	Component	Membrane	HDA	19946888
GO:0016072	Process	RRNA metabolic process	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0016747	Function	Acyltransferase activity, transferring groups other than amino-acyl groups	IEA
GO:0030496	Component	Midbody	IDA
GO:0030496	Component	Midbody	IEA
GO:0032040	Component	Small-subunit processome	IDA	34516797
GO:0032211	Process	Negative regulation of telomere maintenance via telomerase	IMP	18082603
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0042274	Process	Ribosomal small subunit biogenesis	IDA	34516797
GO:0042274	Process	Ribosomal small subunit biogenesis	IEA
GO:0045727	Process	Positive regulation of translation	IDA	30449621
GO:0051391	Process	TRNA acetylation	IBA
GO:0051391	Process	TRNA acetylation	IEA
GO:0051392	Function	TRNA cytidine N4-acetyltransferase activity	IBA
GO:0051392	Function	TRNA cytidine N4-acetyltransferase activity	IEA
GO:0070182	Function	DNA polymerase binding	IPI	18082603
GO:0106162	Function	MRNA N-acetyltransferase activity	IDA	30449621, 35679869
GO:0106162	Function	MRNA N-acetyltransferase activity	IEA
GO:1904812	Process	RRNA acetylation involved in maturation of SSU-rRNA	IBA
GO:1904812	Process	RRNA acetylation involved in maturation of SSU-rRNA	IEA
GO:1990883	Function	18S rRNA cytidine N-acetyltransferase activity	IBA
GO:1990883	Function	18S rRNA cytidine N-acetyltransferase activity	IEA

Other IDs

• MIM: 609221
• HGNC: 29830
• e!Ensembl: ENSG00000135372

Protein

• UniProt ID: Q9H0A0
• Protein name: RNA cytidine acetyltransferase (EC 2.3.1.-) (18S rRNA cytosine acetyltransferase) (N-acetyltransferase 10) (N-acetyltransferase-like protein) (hALP)
• Protein function: RNA cytidine acetyltransferase that catalyzes the formation of N(4)-acetylcytidine (ac4C) modification on mRNAs, 18S rRNA and tRNAs (PubMed:25411247, PubMed:25653167, PubMed:30449621, PubMed:35679869). Catalyzes ac4C modification of a broad rang
• PDB: 6VLA, 7MQ8, 7MQ9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08351	DUF1726	107 → 201	Domain of unknown function (DUF1726)	Family
  PF05127	Helicase_RecD	281 → 488	Helicase	Domain
  PF13718	GNAT_acetyltr_2	528 → 753	GNAT acetyltransferase 2	Family
  PF13725	tRNA_bind_2	763 → 976	Possible tRNA binding domain	Family

• Sequence:

  MHRKKVDNRIRILIENGVAERQRSLFVVVGDRGKDQVVILHHMLSKATVKARPSVLWCYK
  KELGFSSHRKKRMRQLQKKIKNGTLNIKQDDPFELFIAATNIRYCYYNETHKILGNTFGM
  CVLQDFEALTPNLLARTVETVEGGGLVVILLRTMNSLKQLYTVTMDVHSRYRTEAHQDVV
  GRFNERFILSLASCKKCLVIDDQLNILPISSHVATMEALPPQTPDESLGPSDLELRELKE
  SLQDTQPVGVLVDCCKTLDQAKAVLKFIEGISEKTLRSTVALTAARGRGKSAALGLAIAG
  AVAFGYSNIFVTSPSPDNLHTLFEFVFKGFDALQYQEHLDYEIIQSLNPEFNKAVIRVNV
  FREHRQTIQYIHPADAVKLGQAELVVIDEAAAIPLPLVKSLLGPYLVFMASTINGYEGTG
  RSLSLKLIQQLRQQSAQSQVSTTAENKTTTTARLASARTLYEVSLQESIRYAPGDAVEKW
  LNDLLCLDCLNITRIVSGCPLPEACELYYVNRDTLFCYHKASEVFLQRLMALYVASHYKN
  SPNDLQMLSDAPAHHLFCLLPPVPPTQNALPEVLAVIQVCLEGEISRQSILNSLSRGKKA
  SGDLIPWTVSEQFQDPDFGGLSGGRVVRIAVHPDYQGMGYGSRALQLLQMYYEGRFPCLE
  EKVLETPQEIHTVSSEAVSLLEEVITPRKDLPPLLLKLNERPAERLDYLGVSYGLTPRLL
  KFWKRAGFVPVYLRQTPNDLTGEHSCIMLKTLTDEDEADQGGWLAAFWKDFRRRFLALLS
  YQFSTFSPSLALNIIQNRNMGKPAQPALSREELEALFLPYDLKRLEMYSRNMVDYHLIMD
  MIPAISRIYFLNQLGDLALSAAQSALLLGIGLQHKSVDQLEKEIELPSGQLMGLFNRIIR
  KVVKLFNEVQEKAIEEQMVAAKDVVMEPTMKTLSDDLDEAAKEFQEKHKKEVGKLKSMDL
  SEYIIRGDDEEWNEVLNKAGPNASIISLKSDKKRKLEAKQEPKQSKKLKNRETKNKKDMK
  LKRKK

• Sequence length: 1025

Pathways

KEGG:

Ribosome biogenesis in eukaryotes

Reactome:

rRNA modification in the nucleus and cytosol

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
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acromegaly	Acromegaly	BEFREE	29895074		★☆☆☆☆ Found in Text Mining only
Adult hypophosphatasia (disorder)	Hypophosphatasia	BEFREE	15629439		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	30290707, 31690171		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	29880011, 30415492		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	38058058	Associate	★☆☆☆☆ Found in Text Mining only
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	30599794		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	29335609		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	27881006		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	30728842		★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	30123093		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28900285, 29423010, 30706358		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32112098, 35091678, 38409918	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36209353, 36609449, 37705232	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26823802, 31354912	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28859621	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	29335609		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	20804919, 28835603, 29683727		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	23666744	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35978332, 36949954	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	31302425		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	38058058	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	29223554		★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	32912094	Associate	★☆☆☆☆ Found in Text Mining only
Chloasma	Melasma	BEFREE	28880216		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	28267673		★☆☆☆☆ Found in Text Mining only
Cholestasis, Extrahepatic	Cholestasis	BEFREE	31117415		★☆☆☆☆ Found in Text Mining only
Cholesteryl Ester Transfer Protein Deficiency	Hyperalphalipoproteinemia	BEFREE	18926541		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	2745460		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	30125307		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	25037223, 9221854		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24982245, 26882543, 31239781		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26882543	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36209353, 36908042	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	19373952		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	27806633		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24909115, 25241253		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	28880216		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31088856		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	24276437		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	28454919, 31658881, 31671940		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	28268208		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	28268208		★☆☆☆☆ Found in Text Mining only
Esophagitis	Esophagitis	BEFREE	11121210		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	31010354		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	25919795, 29174446		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	2745460		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37277492	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	25411247	Associate	★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	19373952		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	31838773		★☆☆☆☆ Found in Text Mining only
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	BEFREE	17395561, 26797772, 28436937, 30289311, 31146036		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	30290707		★☆☆☆☆ Found in Text Mining only
HYPERALPHALIPOPROTEINEMIA 1	Hyperalphalipoproteinemia	BEFREE	18926541		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	17395561, 28687737		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	28917868		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	28687737, 30289299		★☆☆☆☆ Found in Text Mining only
Hypocalciuric hypercalcemia, familial, type 1	Hypocalciuric Hypercalcemia	BEFREE	18661088, 3665125		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	18661088		★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	BEFREE	10451522, 10679946, 24022022, 2605956, 2705456, 28000043, 28436937, 30289311, 3174660, 8964842		★☆☆☆☆ Found in Text Mining only
Infantile hypophosphatasia	Hypophosphatasia	BEFREE	12412800, 15660230		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	18661088		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	28808392		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	31760208		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	20804919, 31279531		★☆☆☆☆ Found in Text Mining only
Liposarcoma, well differentiated	liposarcoma	BEFREE	20804919		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25369784, 26753954, 28859621, 29634924, 31354912		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	30125307		★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	31838773		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	38058058, 38308713	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	20804919		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28900285, 29423010, 30706358		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	28268208		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31117415		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28835603, 29683727		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18976018, 31028291		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	29335609		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24982245, 28880216		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25037223, 9221854		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28880216		★☆☆☆☆ Found in Text Mining only
Microphthalmia syndromic 1	Microphthalmia	Pubtator	30842225	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmia, syndromic 1	Syndromic microphthalmia	BEFREE	30842225		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	11238905		★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA	Myeloproliferative Disorder with Eosinophilia	BEFREE	31837116		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	21549096		★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	21549096		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10959091, 24982245, 25119103		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	17395561		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	31690171		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	26270641, 29964102		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	18661088, 28620614, 29786747, 30338786, 30638953, 31452264		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28122543		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35978332	Associate	★☆☆☆☆ Found in Text Mining only
Pigmentation Disorders	Pigmentation Disorders	BEFREE	28880216		★☆☆☆☆ Found in Text Mining only
Pleomorphic Lipoma	Lipoma	BEFREE	10959091		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	14687829, 29193593, 31714880		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	29703891, 29970603, 31491951		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31028291		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	30864863		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24909115, 25241253		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	12846052, 30864863		★☆☆☆☆ Found in Text Mining only
Sagittal craniosynostosis	Sagittal craniosynostosis	BEFREE	25753363		★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	BEFREE	25753363		★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	38167491	Inhibit	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28268208		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37705232, 38246918	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	31010354		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36609449	Associate	★☆☆☆☆ Found in Text Mining only
Subcortical Band Heterotopia	Subcortical Band Heterotopia	BEFREE	30643535		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	36553667	Associate	★☆☆☆☆ Found in Text Mining only
TROPICAL CALCIFIC PANCREATITIS	TROPICAL CALCIFIC PANCREATITIS	BEFREE	29269312		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	BEFREE	25736332		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	38182571	Associate	★☆☆☆☆ Found in Text Mining only
Urolithiasis	Urolithiasis	BEFREE	28808392		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	37484809, 37818745	Associate	★☆☆☆☆ Found in Text Mining only
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	BEFREE	30599794		★☆☆☆☆ Found in Text Mining only