RPL5 (ribosomal protein L5)

Gene

• Entrez ID: 6125
• Gene name: Ribosomal protein L5
• Gene symbol: RPL5
• Synonyms (NCBI Gene): L5, MSTP030, PPP1R135, uL18
• Chromosome: 1
• Chromosome location: 1p22.1
• 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
MIRT031631	hsa-miR-16-5p	Proteomics	18668040
MIRT048387	hsa-miR-100-5p	CLASH	23622248
MIRT047180	hsa-miR-182-5p	CLASH	23622248
MIRT045009	hsa-miR-186-5p	CLASH	23622248
MIRT045009	hsa-miR-186-5p	CLASH	23622248
MIRT043744	hsa-miR-328-3p	CLASH	23622248
MIRT041938	hsa-miR-484	CLASH	23622248
MIRT040235	hsa-miR-615-3p	CLASH	23622248
MIRT038731	hsa-miR-93-3p	CLASH	23622248
MIRT367234	hsa-miR-548c-3p	HITS-CLIP	21572407
MIRT516264	hsa-miR-3200-5p	HITS-CLIP	21572407
MIRT516263	hsa-miR-4766-5p	HITS-CLIP	21572407
MIRT516262	hsa-miR-1206	HITS-CLIP	21572407
MIRT516261	hsa-miR-6853-3p	HITS-CLIP	21572407
MIRT516260	hsa-miR-4795-3p	HITS-CLIP	21572407
MIRT367234	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT516264	hsa-miR-3200-5p	PAR-CLIP	20371350
MIRT516263	hsa-miR-4766-5p	PAR-CLIP	20371350
MIRT516262	hsa-miR-1206	PAR-CLIP	20371350
MIRT516261	hsa-miR-6853-3p	PAR-CLIP	20371350
MIRT516260	hsa-miR-4795-3p	PAR-CLIP	20371350
MIRT367234	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT516264	hsa-miR-3200-5p	PAR-CLIP	20371350
MIRT516263	hsa-miR-4766-5p	PAR-CLIP	20371350
MIRT516262	hsa-miR-1206	PAR-CLIP	20371350
MIRT516261	hsa-miR-6853-3p	PAR-CLIP	20371350
MIRT516260	hsa-miR-4795-3p	PAR-CLIP	20371350
MIRT367234	hsa-miR-548c-3p	PAR-CLIP	23446348
MIRT516264	hsa-miR-3200-5p	PAR-CLIP	23446348
MIRT516263	hsa-miR-4766-5p	PAR-CLIP	23446348
MIRT516262	hsa-miR-1206	PAR-CLIP	23446348
MIRT516261	hsa-miR-6853-3p	PAR-CLIP	23446348
MIRT516260	hsa-miR-4795-3p	PAR-CLIP	23446348
MIRT439736	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT439736	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT367234	hsa-miR-548c-3p	HITS-CLIP	21572407
MIRT516264	hsa-miR-3200-5p	HITS-CLIP	21572407
MIRT516263	hsa-miR-4766-5p	HITS-CLIP	21572407
MIRT516262	hsa-miR-1206	HITS-CLIP	21572407
MIRT516261	hsa-miR-6853-3p	HITS-CLIP	21572407
MIRT516260	hsa-miR-4795-3p	HITS-CLIP	21572407
MIRT367234	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT516264	hsa-miR-3200-5p	PAR-CLIP	20371350
MIRT516263	hsa-miR-4766-5p	PAR-CLIP	20371350
MIRT516262	hsa-miR-1206	PAR-CLIP	20371350
MIRT516261	hsa-miR-6853-3p	PAR-CLIP	20371350
MIRT516260	hsa-miR-4795-3p	PAR-CLIP	20371350
MIRT367234	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT516264	hsa-miR-3200-5p	PAR-CLIP	20371350
MIRT516263	hsa-miR-4766-5p	PAR-CLIP	20371350
MIRT516262	hsa-miR-1206	PAR-CLIP	20371350
MIRT516261	hsa-miR-6853-3p	PAR-CLIP	20371350
MIRT516260	hsa-miR-4795-3p	PAR-CLIP	20371350
MIRT367234	hsa-miR-548c-3p	PAR-CLIP	23446348
MIRT516264	hsa-miR-3200-5p	PAR-CLIP	23446348
MIRT516263	hsa-miR-4766-5p	PAR-CLIP	23446348
MIRT516262	hsa-miR-1206	PAR-CLIP	23446348
MIRT516261	hsa-miR-6853-3p	PAR-CLIP	23446348
MIRT516260	hsa-miR-4795-3p	PAR-CLIP	23446348

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000027	Process	Ribosomal large subunit assembly	IBA
GO:0000027	Process	Ribosomal large subunit assembly	IMP	24120868
GO:0002181	Process	Cytoplasmic translation	IC	23636399
GO:0002181	Process	Cytoplasmic translation	NAS	25901680
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	TAS	7772601
GO:0003730	Function	MRNA 3'-UTR binding	IDA	16213212
GO:0003735	Function	Structural constituent of ribosome	IBA
GO:0003735	Function	Structural constituent of ribosome	IDA	23636399, 32669547
GO:0003735	Function	Structural constituent of ribosome	IEA
GO:0003735	Function	Structural constituent of ribosome	IMP	18697920
GO:0003735	Function	Structural constituent of ribosome	NAS	12962325
GO:0003735	Function	Structural constituent of ribosome	TAS	7772601
GO:0005515	Function	Protein binding	IPI	9465063, 9687515, 12054647, 15314173, 15469983, 16648475, 17110929, 17373842, 18560357, 20434207, 20926688, 21399665, 21900206, 28514442, 30021884, 33961781, 35271311
GO:0005634	Component	Nucleus	IDA	9687515
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	24120868
GO:0005730	Component	Nucleolus	HDA	16791210
GO:0005730	Component	Nucleolus	IDA	15469983, 24120868
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	HDA	16791210
GO:0005737	Component	Cytoplasm	IDA	15314173, 15469983
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	25901680
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005840	Component	Ribosome	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006364	Process	RRNA processing	IMP	18697920
GO:0006412	Process	Translation	IEA
GO:0006412	Process	Translation	NAS	12962325
GO:0006412	Process	Translation	TAS	7772601
GO:0008097	Function	5S rRNA binding	IBA
GO:0008097	Function	5S rRNA binding	IDA	18560357
GO:0008097	Function	5S rRNA binding	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	18560357
GO:0016020	Component	Membrane	HDA	19946888
GO:0019843	Function	RRNA binding	IEA
GO:0022625	Component	Cytosolic large ribosomal subunit	HDA	12962325
GO:0022625	Component	Cytosolic large ribosomal subunit	IBA
GO:0022625	Component	Cytosolic large ribosomal subunit	IDA	32669547
GO:0022625	Component	Cytosolic large ribosomal subunit	IEA
GO:0022625	Component	Cytosolic large ribosomal subunit	IPI	25901680
GO:0022625	Component	Cytosolic large ribosomal subunit	TAS	7772601
GO:0022626	Component	Cytosolic ribosome	IDA	23636399
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	18560357
GO:0032991	Component	Protein-containing complex	IDA	15314173
GO:0042273	Process	Ribosomal large subunit biogenesis	IMP	18697920
GO:0045727	Process	Positive regulation of translation	IDA	16213212
GO:0048027	Function	MRNA 5'-UTR binding	IDA	16213212
GO:0050821	Process	Protein stabilization	IMP	18560357
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	IMP	24120868
GO:1904667	Process	Negative regulation of ubiquitin protein ligase activity	IDA	18560357
GO:1990904	Component	Ribonucleoprotein complex	IDA	18809582
GO:1990904	Component	Ribonucleoprotein complex	IEA
GO:1990948	Function	Ubiquitin ligase inhibitor activity	IDA	18560357
GO:2000059	Process	Negative regulation of ubiquitin-dependent protein catabolic process	IDA	18560357
GO:2000435	Process	Negative regulation of protein neddylation	IDA	18560357

Other IDs

• MIM: 603634
• HGNC: 10360
• e!Ensembl: ENSG00000122406

Protein

• UniProt ID: P46777
• Protein name: Large ribosomal subunit protein uL18 (60S ribosomal protein L5)
• Protein function: Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-
• PDB: 4UG0, 4V6X, 5AJ0, 5LKS, 5T2C, 6IP5, 6IP6, 6IP8, 6LQM, 6LSR, 6LSS, 6LU8, 6OLE, 6OLF, 6OLG, 6OLI, 6OLZ, 6OM0, 6OM7, 6QZP, 6W6L, 6XA1, 6Y0G, 6Y2L, 6Y57, 6Y6X, 6Z6L, 6Z6M, 6Z6N, 6ZM7, 6ZME, 6ZMI, 6ZMO, 7BHP, 7F5S, 7OW7, 7QVP, 7XNX, 7XNY, 8A3D, 8BGU, 8FL0, 8FL2, 8FL3, 8FL4, 8FL6, 8FL7, 8FL9, 8FLA, 8FLB, 8FLC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17144	Ribosomal_L5e	14 → 176	Ribosomal large subunit proteins 60S L5, and 50S L18	Family
  PF14204	Ribosomal_L18_c	192 → 283	Ribosomal L18 C-terminal region	Domain

• Sequence:

  MGFVKVVKNKAYFKRYQVKFRRRREGKTDYYARKRLVIQDKNKYNTPKYRMIVRVTNRDI
  ICQIAYARIEGDMIVCAAYAHELPKYGVKVGLTNYAAAYCTGLLLARRLLNRFGMDKIYE
  GQVEVTGDEYNVESIDGQPGAFTCYLDAGLARTTTGNKVFGALKGAVDGGLSIPHSTKRF
  PGYDSESKEFNAEVHRKHIMGQNVADYMRYLMEEDEDAYKKQFSQYIKNSVTPDMMEEMY
  KKAHAAIRENPVYEKKPKKEVKKKRWNRPKMSLAQKKDRVAQKKASFLRAQERAAES

• Sequence length: 297

Pathways

KEGG:

Ribosome
Coronavirus disease - COVID-19

Reactome:

L13a-mediated translational silencing of Ceruloplasmin expression
SRP-dependent cotranslational protein targeting to membrane
Viral mRNA Translation
Major pathway of rRNA processing in the nucleolus and cytosol
Formation of a pool of free 40S subunits
GTP hydrolysis and joining of the 60S ribosomal subunit
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	Likely pathogenic; Pathogenic	rs1686989669, rs2100672432, rs2100677043, rs587777117, rs2100685111, rs2100685034, rs2100676852, rs2100688383, rs2524457676, rs138710531, rs1190811369, rs148673599, rs2524462266, rs2524447751, rs2524448276, rs2524448314, rs2524473865, rs2524448581, rs2524452384, rs2524447645, rs2524447634, rs2524440268, rs2524458024, rs2524440255, rs2524448571, rs2524452362, rs2524448221, rs121434405, rs878854146, rs2524447807, rs2524448381, rs2524452614, rs2524447545, rs1057520746, rs1060503527, rs1553121909, rs1558283792, rs1558283853, rs1558284033, rs1558284062, rs1571024385, rs1571024430, rs1686990557, rs1686990676, rs1553284997, rs1687178005	RCV001377843 RCV001380814 RCV001387662 RCV002444558 RCV001971307 RCV002035339 RCV002045961 RCV001924534 RCV002355543 RCV002375646 RCV002333052 RCV002340604 RCV002353824 RCV002360149 RCV002434901 RCV002371533 RCV002385015 RCV002404073 RCV002428225 RCV002428991 RCV002428467 RCV005098433 RCV003072754 RCV002648164 RCV002664165 RCV002871157 RCV002885333 RCV001217229 RCV000229721 RCV003508732 RCV003507822 RCV003616280 RCV003615722 RCV005090723 RCV000466439 RCV000543851 RCV000691755 RCV000694413 RCV000702906 RCV000691705 RCV000822654 RCV000805012 RCV000819548 RCV001044815 RCV001056294 RCV005093454 RCV001239349	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diamond-Blackfan anemia 1	Pathogenic	rs1558284033	RCV000761557	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diamond-Blackfan anemia 6	Pathogenic; Likely pathogenic	rs1687123286, rs587777117, rs587777118, rs2100677045, rs2100685111, rs2100688414, rs2100676969, rs1394064043, rs2524458087, rs2524448581, rs2524440268, rs121434405, rs1571026775, rs142156224, rs2524452489, rs2524447545, rs1558284033, rs1571024430, rs1571032029, rs1687054029, rs1687004626	RCV001332618 RCV000087038 RCV000087039 RCV001783692 RCV004594615 RCV002052118 RCV002053872 RCV002283677 RCV002283945 RCV003134434 RCV002466790 RCV000006556 RCV000006559 RCV000006561 RCV003486402 RCV005631229 RCV002249419 RCV000006558 RCV000853337 RCV001265621 RCV001267892	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glioma susceptibility 1	Likely pathogenic	rs1394064043	RCV005930266	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RPL5-related disorder	Likely pathogenic	rs2524448298	RCV003400213	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, DIAMOND-BLACKFAN	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APLASTIC ANEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABSENCE OF OVARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHROID HYPOPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALFORMATION OF AURICLE	—	Disgenet	★★☆☆☆ 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
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CYSTS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREECLAMPSIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY ARTERIAL HYPERTENSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR HYDROCELE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Conflicting classifications of pathogenicity	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	GENOMICS_ENGLAND_DG	19061985, 19191325		★☆☆☆☆ Found in Text Mining only
Aase Smith syndrome 2	Aase-Smith syndrome	UNIPROT_DG	19061985, 19191325		★☆☆☆☆ Found in Text Mining only
Aase Smith syndrome 2	Aase-Smith syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Aase Smith syndrome 2	Aase-Smith syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	39252332	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Diamond-Blackfan	Anemia	BEFREE	19061985, 19191325, 19773262, 20358230, 21435509, 22510774, 27258031, 28376382, 29476317, 30933022		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan	Anemia	LHGDN	19061985		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan	Anemia	CLINVAR_DG	19061985, 19773262, 23718193		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan	Anemia	GENOMICS_ENGLAND_DG	19061985, 19191325, 28297620		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Macrocytic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	Pubtator	19061985, 20378560	Associate	★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Appendicitis	Appendicitis	Pubtator	39252332	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Teratoid Rhabdoid Tumor	Teratoid Rhabdoid Tumor	BEFREE	30479569		★☆☆☆☆ Found in Text Mining only
Blackfan-Diamond anemia	Blackfan-Diamond Anemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28147343		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27926932	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32316188, 35318110	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	34032749	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	19061985, 20378560	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36384455	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of ovary	Aplasia of the ovary	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corpus Luteum Cyst	Corpus Luteum Cyst	CTD_human_DG	21239663		★☆☆☆☆ Found in Text Mining only
Craniofacial Abnormalities	Craniofacial abnormalities	Pubtator	19773262	Associate	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	20368992	Associate	★☆☆☆☆ Found in Text Mining only
Diamond-Blackfan Anemia 1	Diamond-Blackfan anemia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectrodactyly	Ectrodactyly	Pubtator	19773262	Associate	★☆☆☆☆ Found in Text Mining only
Erythroid hypoplasia	Erythroid hypoplasia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	28147343		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28147343		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	22262766	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28147343		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28147343, 29547122, 31022952		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28147343		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microspherocytosis	Microspherocytosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	19061985		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	27909306		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	27909306	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	18650830, 19525955, 20087403, 20368992		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	20087403, 34483448	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	BEFREE	31583571		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28147343		★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian Cysts	CTD_human_DG	21239663		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	23263491		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	23263491		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Relative macrocephaly	Macrocephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	30479569		★☆☆☆☆ Found in Text Mining only
Testicular Hydrocele	Testicular Hydrocele	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	34483448	Associate	★☆☆☆☆ Found in Text Mining only
Tracheomalacia	Tracheomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	19061985		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	32415113	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous Thromboembolism	Venous thromboembolism	Pubtator	29620629	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular hypertrophy	Ventricular hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only