Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6223
Gene name	Ribosomal protein S19
Gene symbol	RPS19
Synonyms (NCBI Gene)	DBADBA1LOH19CR1S19eS19
Chromosome	19
Chromosome location	19q13.2
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 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal pro

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894716	G>A	Pathogenic	Coding sequence variant, stop gained
rs104894717	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs138938035	G>A,T	Pathogenic	Initiator codon variant, missense variant
rs143477104	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs146366047	G>A,C	Likely-pathogenic	Splice acceptor variant
rs147508369	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs782329429	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555839154	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1555839161	AA>-	Pathogenic	Frameshift variant, coding sequence variant

116

Show/Hide all (116)

miRTarBase ID	miRNA	Experiments	Reference
MIRT041145	hsa-miR-501-5p	CLASH	23622248
MIRT038007	hsa-miR-193b-5p	CLASH	23622248
MIRT689240	hsa-miR-508-5p	HITS-CLIP	23313552
MIRT689239	hsa-miR-652-3p	HITS-CLIP	23313552
MIRT689238	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT689237	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT689236	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT689235	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT689234	hsa-miR-4793-3p	HITS-CLIP	23313552
MIRT689233	hsa-miR-4486	HITS-CLIP	23313552
MIRT689232	hsa-miR-143-3p	HITS-CLIP	23313552
MIRT689231	hsa-miR-4770	HITS-CLIP	23313552
MIRT689230	hsa-miR-6088	HITS-CLIP	23313552
MIRT689229	hsa-miR-4708-5p	HITS-CLIP	23313552
MIRT689228	hsa-miR-1273f	HITS-CLIP	23313552
MIRT689227	hsa-miR-3160-3p	HITS-CLIP	23313552
MIRT689226	hsa-miR-558	HITS-CLIP	23313552
MIRT689225	hsa-miR-4487	HITS-CLIP	23313552
MIRT689224	hsa-miR-4252	HITS-CLIP	23313552
MIRT689223	hsa-miR-661	HITS-CLIP	23313552
MIRT689222	hsa-miR-6789-3p	HITS-CLIP	23313552
MIRT689221	hsa-miR-566	HITS-CLIP	23313552
MIRT689220	hsa-miR-4649-5p	HITS-CLIP	23313552
MIRT689219	hsa-miR-6729-5p	HITS-CLIP	23313552
MIRT689218	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT689217	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT689216	hsa-miR-7703	HITS-CLIP	23313552
MIRT508198	hsa-miR-1827	PAR-CLIP	20371350
MIRT508196	hsa-miR-4477a	PAR-CLIP	20371350
MIRT508198	hsa-miR-1827	PAR-CLIP	20371350
MIRT508196	hsa-miR-4477a	PAR-CLIP	20371350
MIRT508198	hsa-miR-1827	PAR-CLIP	20371350
MIRT508196	hsa-miR-4477a	PAR-CLIP	20371350
MIRT508198	hsa-miR-1827	PAR-CLIP	20371350
MIRT508196	hsa-miR-4477a	PAR-CLIP	20371350
MIRT508198	hsa-miR-1827	PAR-CLIP	21572407
MIRT508196	hsa-miR-4477a	PAR-CLIP	21572407
MIRT508198	hsa-miR-1827	PAR-CLIP	23446348
MIRT508196	hsa-miR-4477a	PAR-CLIP	23446348
MIRT508198	hsa-miR-1827	PAR-CLIP	23446348
MIRT508196	hsa-miR-4477a	PAR-CLIP	23446348
MIRT451120	hsa-miR-548at-5p	PAR-CLIP	23592263
MIRT451119	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT451118	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT451117	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT451116	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT451115	hsa-miR-940	PAR-CLIP	23592263
MIRT451114	hsa-miR-2682-5p	PAR-CLIP	23592263
MIRT451113	hsa-miR-34b-5p	PAR-CLIP	23592263
MIRT451112	hsa-miR-449c-5p	PAR-CLIP	23592263
MIRT451111	hsa-miR-648	PAR-CLIP	23592263
MIRT451109	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT451110	hsa-miR-874-5p	PAR-CLIP	23592263
MIRT451107	hsa-miR-6806-5p	PAR-CLIP	23592263
MIRT451108	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT451106	hsa-miR-3591-5p	PAR-CLIP	23592263
MIRT689240	hsa-miR-508-5p	HITS-CLIP	23313552
MIRT689239	hsa-miR-652-3p	HITS-CLIP	23313552
MIRT689238	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT689237	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT689236	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT689235	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT689234	hsa-miR-4793-3p	HITS-CLIP	23313552
MIRT689233	hsa-miR-4486	HITS-CLIP	23313552
MIRT689232	hsa-miR-143-3p	HITS-CLIP	23313552
MIRT689231	hsa-miR-4770	HITS-CLIP	23313552
MIRT689230	hsa-miR-6088	HITS-CLIP	23313552
MIRT689229	hsa-miR-4708-5p	HITS-CLIP	23313552
MIRT689228	hsa-miR-1273f	HITS-CLIP	23313552
MIRT689227	hsa-miR-3160-3p	HITS-CLIP	23313552
MIRT689226	hsa-miR-558	HITS-CLIP	23313552
MIRT689225	hsa-miR-4487	HITS-CLIP	23313552
MIRT689224	hsa-miR-4252	HITS-CLIP	23313552
MIRT689223	hsa-miR-661	HITS-CLIP	23313552
MIRT689222	hsa-miR-6789-3p	HITS-CLIP	23313552
MIRT689221	hsa-miR-566	HITS-CLIP	23313552
MIRT689220	hsa-miR-4649-5p	HITS-CLIP	23313552
MIRT689219	hsa-miR-6729-5p	HITS-CLIP	23313552
MIRT689218	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT689217	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT689216	hsa-miR-7703	HITS-CLIP	23313552
MIRT508198	hsa-miR-1827	PAR-CLIP	20371350
MIRT508196	hsa-miR-4477a	PAR-CLIP	20371350
MIRT508198	hsa-miR-1827	PAR-CLIP	20371350
MIRT508196	hsa-miR-4477a	PAR-CLIP	20371350
MIRT508198	hsa-miR-1827	PAR-CLIP	20371350
MIRT508196	hsa-miR-4477a	PAR-CLIP	20371350
MIRT508198	hsa-miR-1827	PAR-CLIP	20371350
MIRT508196	hsa-miR-4477a	PAR-CLIP	20371350
MIRT508198	hsa-miR-1827	PAR-CLIP	21572407
MIRT508196	hsa-miR-4477a	PAR-CLIP	21572407
MIRT508198	hsa-miR-1827	PAR-CLIP	23446348
MIRT508196	hsa-miR-4477a	PAR-CLIP	23446348
MIRT508198	hsa-miR-1827	PAR-CLIP	23446348
MIRT508196	hsa-miR-4477a	PAR-CLIP	23446348
MIRT451120	hsa-miR-548at-5p	PAR-CLIP	23592263
MIRT451119	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT451118	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT451117	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT451116	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT451115	hsa-miR-940	PAR-CLIP	23592263
MIRT451114	hsa-miR-2682-5p	PAR-CLIP	23592263
MIRT451113	hsa-miR-34b-5p	PAR-CLIP	23592263
MIRT451112	hsa-miR-449c-5p	PAR-CLIP	23592263
MIRT451111	hsa-miR-648	PAR-CLIP	23592263
MIRT451109	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT451110	hsa-miR-874-5p	PAR-CLIP	23592263
MIRT451107	hsa-miR-6806-5p	PAR-CLIP	23592263
MIRT451108	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT451106	hsa-miR-3591-5p	PAR-CLIP	23592263
MIRT1317742	hsa-miR-1273d	CLIP-seq
MIRT1317743	hsa-miR-338-3p	CLIP-seq
MIRT1317742	hsa-miR-1273d	CLIP-seq
MIRT1317743	hsa-miR-338-3p	CLIP-seq
MIRT1317742	hsa-miR-1273d	CLIP-seq
MIRT1317743	hsa-miR-338-3p	CLIP-seq

Show/Hide all (55)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000028	Process	Ribosomal small subunit assembly	IBA
GO:0000028	Process	Ribosomal small subunit assembly	IMP	17053056
GO:0000462	Process	Maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IMP	16990592, 17053056
GO:0002181	Process	Cytoplasmic translation	IC	23636399
GO:0002181	Process	Cytoplasmic translation	NAS	25901680
GO:0002548	Process	Monocyte chemotaxis	IDA	11226885
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003723	Function	RNA binding	IBA
GO:0003735	Function	Structural constituent of ribosome	HDA	15883184
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:0003735	Function	Structural constituent of ribosome	IMP	18697920
GO:0005515	Function	Protein binding	IPI	16266891, 24965446, 30021884, 32296183, 32814053, 33961781, 35271311
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA	12586610, 16289379, 17517689
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IDA	17517689
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	25901680
GO:0005829	Component	Cytosol	IDA	11716516
GO:0005829	Component	Cytosol	TAS
GO:0005840	Component	Ribosome	IDA	17517689
GO:0005840	Component	Ribosome	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006364	Process	RRNA processing	IMP	18697920
GO:0006412	Process	Translation	IC	8706699
GO:0006412	Process	Translation	IEA
GO:0007000	Process	Nucleolus organization	IMP	17053056
GO:0014069	Component	Postsynaptic density	EXP	21170055
GO:0014069	Component	Postsynaptic density	IDA	21170055
GO:0016020	Component	Membrane	HDA	19946888
GO:0017134	Function	Fibroblast growth factor binding	IPI	11716516
GO:0019901	Function	Protein kinase binding	IPI	16266891
GO:0022626	Component	Cytosolic ribosome	IDA	23636399
GO:0022626	Component	Cytosolic ribosome	IEA
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	NAS	25901680
GO:0030218	Process	Erythrocyte differentiation	IMP	16289379
GO:0030490	Process	Maturation of SSU-rRNA	IMP	16990592, 17053056
GO:0031640	Process	Killing of cells of another organism	IDA	15019208
GO:0032040	Component	Small-subunit processome	IDA	34516797
GO:0042274	Process	Ribosomal small subunit biogenesis	IDA	34516797
GO:0042274	Process	Ribosomal small subunit biogenesis	IMP	18697920
GO:0042802	Function	Identical protein binding	IPI	11226885
GO:0050829	Process	Defense response to Gram-negative bacterium	IDA	15019208
GO:0060265	Process	Positive regulation of respiratory burst involved in inflammatory response	IDA	15750715
GO:0060266	Process	Negative regulation of respiratory burst involved in inflammatory response	IDA	15750715
GO:0061844	Process	Antimicrobial humoral immune response mediated by antimicrobial peptide	IDA	15019208
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:1990904	Component	Ribonucleoprotein complex	IEA

MIM	HGNC	e!Ensembl
603474	10402	ENSG00000105372

P39019

Protein name

Small ribosomal subunit protein eS19 (40S ribosomal protein S19)

Protein function

Component of the small ribosomal subunit (PubMed:23636399). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399). Required for pre-rRNA processing and maturation of 40S ribosom

PDB

4UG0 , 4V6X , 5A2Q , 5AJ0 , 5FLX , 5LKS , 5OA3 , 5T2C , 5VYC , 6G18 , 6G4S , 6G4W , 6G51 , 6G53 , 6G5H , 6G5I , 6IP5 , 6IP6 , 6IP8 , 6OLE , 6OLF , 6OLG , 6OLI , 6OLZ , 6OM0 , 6OM7 , 6QZP , 6XA1 , 6Y0G , 6Y2L , 6Y57 , 6YBS , 6Z6L , 6Z6M , 6Z6N , 6ZLW , 6ZM7 , 6ZME , 6ZMI , 6ZMO , 6ZMT , 6ZMW , 6ZN5 , 6ZOJ , 6ZOL , 6ZON , 6ZP4 , 6ZUO , 6ZV6 , 6ZVH , 6ZVJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01090	Ribosomal_S19e	5 → 141	Ribosomal protein S19e	Family

Tissue specificity

TISSUE SPECIFICITY: Higher level expression is seen in the colon carcinoma tissue than normal colon tissue. {ECO:0000269|PubMed:1339304}.

Sequence

MPGVTVKDVNQQEFVRALAAFLKKSGKLKVPEWVDTVKLAKHKELAPYDENWFYTRAAST
ARHLYLRGGAGVGSMTKIYGGRQRNGVMPSHFSRGSKSVARRVLQALEGLKMVEKDQDGG
RKLTPQGQRDLDRIAGQVAAANKKH

Sequence length

145

Interactions

View interactions

	KEGG		Reactome
	Ribosome Coronavirus disease - COVID-19		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 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 Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)

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)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Diamond-Blackfan anemia	Pathogenic; Likely pathogenic	rs2123256254, rs1555841301, rs2123256342, rs2123283622, rs879993801, rs2513666127, rs869066130, rs138938035, rs2513685131, rs2513667116, rs2513667328, rs2513667411, rs2513667441, rs2513682836, rs1555841307 View all (26 more)	RCV001384824 RCV001383782 RCV002031373 RCV001876903 RCV002010419 View all (41 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diamond-Blackfan anemia 1	Pathogenic; Likely pathogenic	rs2123285949, rs2123284131, rs1555841356, rs869066130, rs2513667116, rs2513667169, rs61762293, rs104894711, rs104894716, rs121908649, rs786200935, rs786200936, rs2513683320, rs2513666238, rs2513685020 View all (7 more)	RCV001784919 RCV004594595 RCV002251029 RCV005227595 RCV005631043 View all (17 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RPS19-related disorder	Likely pathogenic; Pathogenic	rs2513667441, rs104894711, rs1555841301	RCV004725271 RCV003415668 RCV003900162	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANEMIA, DIAMOND-BLACKFAN	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Landsteiner-Wiener phenotype	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (171)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Aase syndrome	Aase-Smith syndrome	BEFREE	1746615, 4017281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	28566565		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31168300		★★★★★ ★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	26272185, 31063933		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	29233793		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	20395159, 25216681, 25270909, 28566565, 29044489, 30530752, 9166327		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	20395159, 24463277	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	16159874	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Diamond-Blackfan	Anemia	BEFREE	10450869, 10541318, 10590074, 10598818, 10698294, 10753603, 11112378, 11176237, 11264183, 11424144, 11563775, 12351378, 12358933, 12430621, 12586610 View all (101 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan	Anemia	CLINVAR_DG	10590074, 11112378, 15059149, 15075082, 25946618		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan	Anemia	GENOMICS_ENGLAND_DG	15384984, 28297620, 9988267		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan	Anemia	LHGDN	17178250, 17517689, 17962699, 18412286, 18768533		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan	Anemia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Hemolytic	Anemia	BEFREE	29396846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Macrocytic	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	29663858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	Pubtator	20378560	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	BEFREE	27375005		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	31557158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	31557158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	16794503, 30524470, 31802424, 9042404		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28837567, 30587087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	10051620, 10430627, 10436178, 10640777, 10765929, 11407707, 11592381, 11937551, 12102470, 12133271, 14528319, 14978100, 15084914, 15742154, 15902307 View all (50 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28837567, 30587087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	12724345, 30334466		★★★★★ ★☆☆☆☆ Found in Text Mining only
Avellino corneal dystrophy	Avellino Corneal Dystrophy	BEFREE	31505487		★★★★★ ★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	8562946		★★★★★ ★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	8562946		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blackfan-Diamond anemia	Blackfan-Diamond Anemia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow failure syndromes	Bone marrow failure syndrome	BEFREE	16507776, 29954325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28228558		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brooke-Spiegler syndrome	Brooke-Spiegler Syndrome	BEFREE	27248996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bulimia	Bulimia	BEFREE	30261172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of uterine cervix	Cervical Intraepithelial Neoplasia	BEFREE	22496757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	28932757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Catalepsy	Catalepsy	BEFREE	10765558		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29051281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	29051281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	27189785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	20378560	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	BEFREE	29141182		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	28926599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	1339304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	9042404		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	24352913, 31574871		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital dyserythropoietic anemia	Congenital dyserythropoietic anemia	BEFREE	29396846, 31505487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hernia of foramen of Bochdalek	Posterolateral diaphragmatic hernia	BEFREE	31574871		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of radius	Congenital Hypoplasia Of Radius	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplastic anemia	Congenital Hypoplastic Anemia	BEFREE	10698294, 11264183, 12586610, 15523650, 17517689, 9321770, 9443046		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplastic anemia	Congenital Hypoplastic Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	BEFREE	20435624, 20569259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	BEFREE	11424144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	28279190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29089371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29089371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29893858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	25207540, 27852608, 27899487, 29979777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic Nephropathy	BEFREE	20979611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	25207540		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diamond-Blackfan Anemia 1	Diamond-Blackfan anemia	UNIPROT_DG	10590074, 11112378, 12586610, 12750732, 15384984, 17517689, 18412286, 9988267		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diamond-Blackfan Anemia 1	Diamond-Blackfan anemia	BEFREE	12430621, 16200626, 1746615, 19126570, 20116044, 20655265, 24341334, 29930140, 4017281		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diamond-Blackfan Anemia 1	Diamond-Blackfan anemia	GENOMICS_ENGLAND_DG	15384984, 1746615, 9988267		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diamond-Blackfan Anemia 1	Diamond-Blackfan anemia	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Down Syndrome	Down Syndrome	BEFREE	31234775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis Congenita	BEFREE	16676307, 20569259, 27248996, 28623394, 28801981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Enthesitis	Enthesitis	BEFREE	27695067		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30165263, 31056750, 31283708		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	BEFREE	31697745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Erythroid hypoplasia	Erythroid hypoplasia	BEFREE	10598818, 15082795, 16794503, 17053056, 18217898, 18768533, 30933022		★★★★★ ★☆☆☆☆ Found in Text Mining only
Erythrokeratodermia Variabilis	Erythrokeratodermia variabilis	Pubtator	18217898	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	11802189, 16676307, 27248996, 28623394, 28801981		★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	11802189, 16676307, 27248996, 28623394, 28801981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	BEFREE	31063933		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	12011806, 16827931, 21246546, 21383504, 25207540, 26903709, 27849168, 28516453, 28540323, 28981549, 29085298, 29209164, 29294337, 29342845, 29760184 View all (6 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	BEFREE	11743578, 15985430, 29283693, 30660703		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	29954325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	23863123, 27765567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	21364753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary spherocytosis	Hereditary Spherocytosis	BEFREE	29396846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	22290451		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	22290451		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	BEFREE	9166327		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	27899487, 27989651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperostosis	Hyperostosis	BEFREE	10765929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	11884447		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	GENOMICS_ENGLAND_DG	15384984, 1746615		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	18715690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	31697745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inherited bone marrow failure syndrome	Inherited Bone Marrow Failure Syndrome	BEFREE	29222326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	27852608, 27914709		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30077612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Klippel-Feil Syndrome	Klippel Feil syndrome	BEFREE	30524470		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	1423230, 29017823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	18024606, 27248996, 27256803		★★★★★ ★☆☆☆☆ Found in Text Mining only
Li-Fraumeni Syndrome	Li-Fraumeni Syndrome	BEFREE	12430621, 31203998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12907637		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	17312121, 24462761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	35558576	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	17312121, 24462761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	17312121, 24462761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	17312121, 24462761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	10450869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28228558		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17199135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29016636		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	21364753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22496757, 25270909, 29976410, 31203998, 31799629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29051281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mandibulofacial Dysostosis	Mandibulofacial Dysostosis	BEFREE	28046103		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30824801, 31320995		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	15123654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	31178692		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	29967977, 31203998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	18024606, 27248996, 29663858, 29967977, 31203998, 31341143		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28148779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	23990987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12430621, 22693453, 28228558		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	32593299	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	29020118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29893858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	28062298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	12430621, 18024606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	17376718, 25216681, 27248996, 27256803, 28434866, 29051281, 29296843, 30784369, 31799629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	Pubtator	23826176	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PARIETAL FORAMINA	Parietal Foramina	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	31737959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pleurisy	Pleuritis	BEFREE	28190533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarteritis Nodosa	Polyarteritis Nodosa	BEFREE	31043544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarthritis	Polyarthritis	BEFREE	10765929, 15383603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	30986492, 31805289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29016636		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17199135		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29016636	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	16980409, 20131275, 21905879, 27460490, 28550307, 28675838, 28935500, 29456573, 31297569, 31446118, 31837437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	BEFREE	28735674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	23209647		★★★★★ ★☆☆☆☆ Found in Text Mining only
SEBASTIAN SYNDROME	SEBASTIAN SYNDROME	BEFREE	27248996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	8750012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Shwachman syndrome	Shwachman Syndrome	BEFREE	16507776, 16676307, 17475909, 22709827, 24875531, 27248996, 28486441, 28637614, 28801981, 29167174, 29222241, 30908982		★★★★★ ★☆☆☆☆ Found in Text Mining only
Splenic Hypoplasia	Splenic Hypoplasia	BEFREE	31630789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylometaphyseal dysplasia, Sedaghatian type	Spondylometaphyseal Dysplasia	BEFREE	29199464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	15330156	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	15330156		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	21364753		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	37449524	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
stomatocytic anemia	Anemia	BEFREE	29396846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thumb aplasia	Thumb Aplasia	GENOMICS_ENGLAND_DG	15384984, 1746615		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thumb aplasia	Thumb Aplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	BEFREE	20573721		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	BEFREE	31634345		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	12430621		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	31366877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	11424144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	22496757	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	22496757	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	31320995		★★★★★ ★☆☆☆☆ Found in Text Mining only

RPS19 (ribosomal protein S19)