RPS27 (ribosomal protein S27)

Gene

• Entrez ID: 6232
• Gene name: Ribosomal protein S27
• Gene symbol: RPS27
• Synonyms (NCBI Gene): DBA17, MPS-1, MPS1, S27, eS27
• Chromosome: 1
• Chromosome location: 1q21.3
• Summary: Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT031378	hsa-miR-16-5p	Proteomics	18668040
MIRT051425	hsa-let-7e-5p	CLASH	23622248
MIRT050605	hsa-miR-20a-5p	CLASH	23622248
MIRT048465	hsa-miR-100-5p	CLASH	23622248
MIRT044612	hsa-miR-320a	CLASH	23622248
MIRT043408	hsa-miR-331-3p	CLASH	23622248
MIRT039575	hsa-miR-636	CLASH	23622248
MIRT037982	hsa-miR-502-3p	CLASH	23622248
MIRT037843	hsa-miR-455-3p	CLASH	23622248
MIRT037255	hsa-miR-877-5p	CLASH	23622248
MIRT528760	hsa-miR-4461	PAR-CLIP	20371350
MIRT528759	hsa-miR-4698	PAR-CLIP	20371350
MIRT528758	hsa-miR-4301	PAR-CLIP	20371350
MIRT528757	hsa-miR-143-3p	PAR-CLIP	20371350
MIRT528756	hsa-miR-4770	PAR-CLIP	20371350
MIRT528755	hsa-miR-6088	PAR-CLIP	20371350
MIRT528754	hsa-miR-4708-5p	PAR-CLIP	20371350
MIRT528753	hsa-miR-1273f	PAR-CLIP	20371350
MIRT528752	hsa-miR-8069	PAR-CLIP	20371350
MIRT528751	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT528750	hsa-miR-1260a	PAR-CLIP	20371350
MIRT528749	hsa-miR-1260b	PAR-CLIP	20371350
MIRT528748	hsa-miR-3156-3p	PAR-CLIP	20371350
MIRT528747	hsa-miR-29b-2-5p	PAR-CLIP	20371350
MIRT528760	hsa-miR-4461	PAR-CLIP	21572407
MIRT528759	hsa-miR-4698	PAR-CLIP	21572407
MIRT528758	hsa-miR-4301	PAR-CLIP	21572407
MIRT528757	hsa-miR-143-3p	PAR-CLIP	21572407
MIRT528756	hsa-miR-4770	PAR-CLIP	21572407
MIRT528755	hsa-miR-6088	PAR-CLIP	21572407
MIRT528754	hsa-miR-4708-5p	PAR-CLIP	21572407
MIRT528753	hsa-miR-1273f	PAR-CLIP	21572407
MIRT528752	hsa-miR-8069	PAR-CLIP	21572407
MIRT528751	hsa-miR-188-3p	PAR-CLIP	21572407
MIRT528750	hsa-miR-1260a	PAR-CLIP	21572407
MIRT528749	hsa-miR-1260b	PAR-CLIP	21572407
MIRT528748	hsa-miR-3156-3p	PAR-CLIP	21572407
MIRT528747	hsa-miR-29b-2-5p	PAR-CLIP	21572407
MIRT528760	hsa-miR-4461	PAR-CLIP	21572407
MIRT528759	hsa-miR-4698	PAR-CLIP	21572407
MIRT528758	hsa-miR-4301	PAR-CLIP	21572407
MIRT528757	hsa-miR-143-3p	PAR-CLIP	21572407
MIRT528756	hsa-miR-4770	PAR-CLIP	21572407
MIRT528755	hsa-miR-6088	PAR-CLIP	21572407
MIRT528754	hsa-miR-4708-5p	PAR-CLIP	21572407
MIRT528753	hsa-miR-1273f	PAR-CLIP	21572407
MIRT528752	hsa-miR-8069	PAR-CLIP	21572407
MIRT528751	hsa-miR-188-3p	PAR-CLIP	21572407
MIRT528750	hsa-miR-1260a	PAR-CLIP	21572407
MIRT528749	hsa-miR-1260b	PAR-CLIP	21572407
MIRT528748	hsa-miR-3156-3p	PAR-CLIP	21572407
MIRT528747	hsa-miR-29b-2-5p	PAR-CLIP	21572407
MIRT528760	hsa-miR-4461	PAR-CLIP	22012620
MIRT528759	hsa-miR-4698	PAR-CLIP	22012620
MIRT528758	hsa-miR-4301	PAR-CLIP	22012620
MIRT528757	hsa-miR-143-3p	PAR-CLIP	22012620
MIRT528756	hsa-miR-4770	PAR-CLIP	22012620
MIRT528755	hsa-miR-6088	PAR-CLIP	22012620
MIRT528754	hsa-miR-4708-5p	PAR-CLIP	22012620
MIRT528753	hsa-miR-1273f	PAR-CLIP	22012620
MIRT528752	hsa-miR-8069	PAR-CLIP	22012620
MIRT528751	hsa-miR-188-3p	PAR-CLIP	22012620
MIRT528750	hsa-miR-1260a	PAR-CLIP	22012620
MIRT528749	hsa-miR-1260b	PAR-CLIP	22012620
MIRT528748	hsa-miR-3156-3p	PAR-CLIP	22012620
MIRT528747	hsa-miR-29b-2-5p	PAR-CLIP	22012620
MIRT528760	hsa-miR-4461	PAR-CLIP	20371350
MIRT528759	hsa-miR-4698	PAR-CLIP	20371350
MIRT528758	hsa-miR-4301	PAR-CLIP	20371350
MIRT528757	hsa-miR-143-3p	PAR-CLIP	20371350
MIRT528756	hsa-miR-4770	PAR-CLIP	20371350
MIRT528755	hsa-miR-6088	PAR-CLIP	20371350
MIRT528754	hsa-miR-4708-5p	PAR-CLIP	20371350
MIRT528753	hsa-miR-1273f	PAR-CLIP	20371350
MIRT528752	hsa-miR-8069	PAR-CLIP	20371350
MIRT528751	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT528750	hsa-miR-1260a	PAR-CLIP	20371350
MIRT528749	hsa-miR-1260b	PAR-CLIP	20371350
MIRT528748	hsa-miR-3156-3p	PAR-CLIP	20371350
MIRT528747	hsa-miR-29b-2-5p	PAR-CLIP	20371350
MIRT528760	hsa-miR-4461	PAR-CLIP	21572407
MIRT528759	hsa-miR-4698	PAR-CLIP	21572407
MIRT528758	hsa-miR-4301	PAR-CLIP	21572407
MIRT528757	hsa-miR-143-3p	PAR-CLIP	21572407
MIRT528756	hsa-miR-4770	PAR-CLIP	21572407
MIRT528755	hsa-miR-6088	PAR-CLIP	21572407
MIRT528754	hsa-miR-4708-5p	PAR-CLIP	21572407
MIRT528753	hsa-miR-1273f	PAR-CLIP	21572407
MIRT528752	hsa-miR-8069	PAR-CLIP	21572407
MIRT528751	hsa-miR-188-3p	PAR-CLIP	21572407
MIRT528750	hsa-miR-1260a	PAR-CLIP	21572407
MIRT528749	hsa-miR-1260b	PAR-CLIP	21572407
MIRT528748	hsa-miR-3156-3p	PAR-CLIP	21572407
MIRT528747	hsa-miR-29b-2-5p	PAR-CLIP	21572407
MIRT528760	hsa-miR-4461	PAR-CLIP	21572407
MIRT528759	hsa-miR-4698	PAR-CLIP	21572407
MIRT528758	hsa-miR-4301	PAR-CLIP	21572407
MIRT528757	hsa-miR-143-3p	PAR-CLIP	21572407
MIRT528756	hsa-miR-4770	PAR-CLIP	21572407
MIRT528755	hsa-miR-6088	PAR-CLIP	21572407
MIRT528754	hsa-miR-4708-5p	PAR-CLIP	21572407
MIRT528753	hsa-miR-1273f	PAR-CLIP	21572407
MIRT528752	hsa-miR-8069	PAR-CLIP	21572407
MIRT528751	hsa-miR-188-3p	PAR-CLIP	21572407
MIRT528750	hsa-miR-1260a	PAR-CLIP	21572407
MIRT528749	hsa-miR-1260b	PAR-CLIP	21572407
MIRT528748	hsa-miR-3156-3p	PAR-CLIP	21572407
MIRT528747	hsa-miR-29b-2-5p	PAR-CLIP	21572407
MIRT528760	hsa-miR-4461	PAR-CLIP	22012620
MIRT528759	hsa-miR-4698	PAR-CLIP	22012620
MIRT528758	hsa-miR-4301	PAR-CLIP	22012620
MIRT528757	hsa-miR-143-3p	PAR-CLIP	22012620
MIRT528756	hsa-miR-4770	PAR-CLIP	22012620
MIRT528755	hsa-miR-6088	PAR-CLIP	22012620
MIRT528754	hsa-miR-4708-5p	PAR-CLIP	22012620
MIRT528753	hsa-miR-1273f	PAR-CLIP	22012620
MIRT528752	hsa-miR-8069	PAR-CLIP	22012620
MIRT528751	hsa-miR-188-3p	PAR-CLIP	22012620
MIRT528750	hsa-miR-1260a	PAR-CLIP	22012620
MIRT528749	hsa-miR-1260b	PAR-CLIP	22012620
MIRT528748	hsa-miR-3156-3p	PAR-CLIP	22012620
MIRT528747	hsa-miR-29b-2-5p	PAR-CLIP	22012620
MIRT1317927	hsa-miR-1260	CLIP-seq
MIRT1317928	hsa-miR-143	CLIP-seq
MIRT1317929	hsa-miR-520f	CLIP-seq
MIRT1317930	hsa-miR-759	CLIP-seq
MIRT1317927	hsa-miR-1260	CLIP-seq
MIRT1317928	hsa-miR-143	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000028	Process	Ribosomal small subunit assembly	IBA
GO:0002181	Process	Cytoplasmic translation	IC	23636399
GO:0003677	Function	DNA binding	NAS	8908372
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003723	Function	RNA binding	IBA
GO:0003735	Function	Structural constituent of ribosome	IBA
GO:0003735	Function	Structural constituent of ribosome	IDA	23636399
GO:0003735	Function	Structural constituent of ribosome	IEA
GO:0005515	Function	Protein binding	IPI	16864798, 21170087, 24725412, 31046837, 32296183
GO:0005634	Component	Nucleus	IDA	8407955
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005840	Component	Ribosome	IEA
GO:0005840	Component	Ribosome	NAS	8908372
GO:0006364	Process	RRNA processing	IMP	25424902
GO:0006412	Process	Translation	IC	8706699, 15883184
GO:0006412	Process	Translation	IEA
GO:0006412	Process	Translation	NAS	8908372
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	NAS	8407955
GO:0014069	Component	Postsynaptic density	EXP	21170055
GO:0014069	Component	Postsynaptic density	IDA	21170055
GO:0022626	Component	Cytosolic ribosome	IDA	23636399
GO:0022627	Component	Cytosolic small ribosomal subunit	HDA	15883184
GO:0022627	Component	Cytosolic small ribosomal subunit	IBA
GO:0022627	Component	Cytosolic small ribosomal subunit	IDA	8706699
GO:0022627	Component	Cytosolic small ribosomal subunit	IEA
GO:0032040	Component	Small-subunit processome	IDA	34516797
GO:0042274	Process	Ribosomal small subunit biogenesis	IDA	34516797
GO:0046872	Function	Metal ion binding	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:1990904	Component	Ribonucleoprotein complex	IEA

Other IDs

• MIM: 603702
• HGNC: 10416
• e!Ensembl: ENSG00000177954

Protein

• UniProt ID: P42677
• Protein name: Small ribosomal subunit protein eS27 (40S ribosomal protein S27) (Metallopan-stimulin 1) (MPS-1)
• Protein function: Component of the small ribosomal subunit (PubMed:23636399, PubMed:8706699). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399). Required for proper rRNA processing and matura
• PDB: 4UG0, 4V6X, 5A2Q, 5AJ0, 5FLX, 5LKS, 5OA3, 5T2C, 5VYC, 6FEC, 6G18, 6G4S, 6G4W, 6G51, 6G53, 6G5H, 6G5I, 6IP5, 6IP6, 6IP8, 6OLE, 6OLF, 6OLG, 6OLI, 6OLZ, 6OM0, 6OM7, 6QZP, 6XA1, 6Y0G, 6Y2L, 6Y57, 6YBD, 6YBW, 6Z6L, 6Z6M, 6Z6N, 6ZLW, 6ZM7, 6ZME, 6ZMI, 6ZMO, 6ZMT, 6ZMW, 6ZN5, 6ZOJ, 6ZOK, 6ZON, 6ZP4, 6ZUO, 6ZV6
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01667	Ribosomal_S27e	28 → 82	Ribosomal protein S27	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in a wide variety of actively proliferating cells and tumor tissues. {ECO:0000269|PubMed:8407955}.
• Sequence:

  MPLAKDLLHPSPEEEKRKHKKKRLVQSPNSYFMDVKCPGCYKITTVFSHAQTVVLCVGCS
  TVLCQPTGGKARLTEGCSFRRKQH

• Sequence length: 84

Pathways

KEGG:

Ribosome
Coronavirus disease - COVID-19

Reactome:

Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
L13a-mediated translational silencing of Ceruloplasmin expression
SRP-dependent cotranslational protein targeting to membrane
Viral mRNA Translation
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
RHO GTPases Activate Formins
Major pathway of rRNA processing in the nucleolus and cytosol
Mitotic Prometaphase
Translation initiation complex formation
Formation of a pool of free 40S subunits
Formation of the ternary complex, and subsequently, the 43S complex
Ribosomal scanning and start codon recognition
GTP hydrolysis and joining of the 60S ribosomal subunit
EML4 and NUDC in mitotic spindle formation
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)

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
Diamond-Blackfan anemia 17	Pathogenic	rs1085307115	RCV000477728	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIAMOND-BLACKFAN ANEMIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RPS27-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aase Smith syndrome 2	Aase-Smith syndrome	ORPHANET_DG	25424902		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	27633003		★☆☆☆☆ Found in Text Mining only
alpha-L-Iduronidase Deficiency	Mucopolysaccharidosis	BEFREE	19751987, 24411223		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	17927985		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia, Diamond-Blackfan	Anemia	BEFREE	25424902		★☆☆☆☆ Found in Text Mining only
Anemia, Diamond-Blackfan	Anemia	GENOMICS_ENGLAND_DG	25424902, 28297620		★☆☆☆☆ Found in Text Mining only
Anemia, Diamond-Blackfan	Anemia	ORPHANET_DG	25424902		★☆☆☆☆ Found in Text Mining only
Anemia, Macrocytic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	24282275, 25137017		★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	37373158	Associate	★☆☆☆☆ Found in Text Mining only
Blackfan-Diamond anemia	Blackfan-Diamond Anemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12175529, 21402910, 28259529, 30693152		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32444848, 33305312	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32627011	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	28619065		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	27633003		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	30601084		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	25063032, 29925769		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30854056, 31506433		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31506433	Associate	★☆☆☆☆ Found in Text Mining only
Compression of spinal cord	Spinal cord compression	BEFREE	18792977		★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	BEFREE	15194053		★☆☆☆☆ Found in Text Mining only
DIAMOND-BLACKFAN ANEMIA 17	Diamond-Blackfan anemia	GENOMICS_ENGLAND_DG	25424902		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DIAMOND-BLACKFAN ANEMIA 17	Diamond-Blackfan anemia	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	34266426	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Partial with Variable Foci	Progressive myoclonic epilepsy	Pubtator	34266426	Associate	★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	29143201		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	31467635		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	28721335		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23940287, 25722303, 25991676, 27819146, 30693152		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23940287, 25722303, 25991676, 27819146, 30693152		★☆☆☆☆ Found in Text Mining only
Hartnup Disease	Hartnup Disease	BEFREE	19751987, 24411223		★☆☆☆☆ Found in Text Mining only
Hurler-Scheie Syndrome	Hurler-Scheie Syndrome	BEFREE	28660346, 30575621		★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	31065277, 31473686		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11425264, 28299790, 29925769		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	28759042		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12175529, 21402910, 24462521, 28259529, 30693152		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28299790		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16914586, 21796632, 23803695		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11425264, 16864798, 16914586, 19642098, 25063032, 27819146, 28299790, 29736010, 30199249, 30693152, 30854056, 31121430, 31235856		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25063032, 29925769		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	27633003		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	22430208, 24913145, 30854056, 31663663		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	24913145, 8407955	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
MPS III B	Mucopolysaccharidosis	BEFREE	29942826		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis I	Mucopolysaccharidosis	BEFREE	19751987, 24411223, 28619065, 28721335, 29310675		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis II	Mucopolysaccharidosis	BEFREE	27146977, 28660346		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis Type IIIA	Mucopolysaccharidosis	BEFREE	19690583, 19690584, 27718145, 28660346, 29046964, 29310675, 29735373, 30226843		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis, MPS-IV-A	Mucopolysaccharidosis	BEFREE	18546277, 26740238, 28538597, 30136169, 31452203, 31590383		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	21889435		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12175529, 16914586, 19642098, 22430208, 23940287, 24282275, 24462521, 25991676, 26398286, 26637805, 28334731, 29736010, 31506433		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28619065		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Diseases	Sphingomyelinase deficiency	BEFREE	28728811		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	31506433	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	24282275		★☆☆☆☆ Found in Text Mining only
Pfaundler-Hurler Syndrome	Pfaundler-Hurler Syndrome	BEFREE	16435198, 19751987, 24411223, 27146977, 28170539, 29128371, 29310675, 31065277, 31473686, 8664897		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	25197064		★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	40016701	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	19642098		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	16914586, 21796632, 23803695		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	16914586		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	29805692		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	35546566	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	35546566	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26398286, 28539250, 31121430, 31575759		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	33305312	Associate	★☆☆☆☆ Found in Text Mining only