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	55703
Gene name	RNA polymerase III subunit B
Gene symbol	POLR3B
Synonyms (NCBI Gene)	C128CMT1IHLD8INMAPRPC2
Chromosome	12
Chromosome location	12q23.3
Summary	This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. M

Show/Hide all (16)

SNP ID	Visualize variation	Clinical significance	Consequence
rs138249161	T>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs199504211	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs267608683	C>A	Pathogenic	Missense variant, coding sequence variant
rs267608684	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs267608685	A>T	Pathogenic	Stop gained, coding sequence variant
rs267608686	A>C,G	Pathogenic	Splice acceptor variant
rs267608687	G>A	Pathogenic	Missense variant, coding sequence variant
rs267608688	C>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs747912710	A>G	Pathogenic	Intron variant
rs753943393	G>A	Pathogenic	Splice donor variant
rs755312623	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs774526181	T>C	Likely-pathogenic	Splice donor variant
rs797045895	CTT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1064796907	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1158662109	G>A,T	Likely-pathogenic	Splice donor variant
rs1592752356	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (58)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030785	hsa-miR-21-5p	Microarray	18591254
MIRT032193	hsa-let-7b-5p	Proteomics	18668040
MIRT1249174	hsa-miR-1257	CLIP-seq
MIRT1249175	hsa-miR-21	CLIP-seq
MIRT1249176	hsa-miR-3065-3p	CLIP-seq
MIRT1249177	hsa-miR-3163	CLIP-seq
MIRT1249178	hsa-miR-335	CLIP-seq
MIRT1249179	hsa-miR-362-5p	CLIP-seq
MIRT1249180	hsa-miR-410	CLIP-seq
MIRT1249181	hsa-miR-4662a-5p	CLIP-seq
MIRT1249182	hsa-miR-4676-5p	CLIP-seq
MIRT1249183	hsa-miR-4761-5p	CLIP-seq
MIRT1249184	hsa-miR-4765	CLIP-seq
MIRT1249185	hsa-miR-500b	CLIP-seq
MIRT1249186	hsa-miR-501-5p	CLIP-seq
MIRT1249187	hsa-miR-575	CLIP-seq
MIRT1249188	hsa-miR-576-5p	CLIP-seq
MIRT1249189	hsa-miR-590-5p	CLIP-seq
MIRT2073594	hsa-miR-150	CLIP-seq
MIRT1249175	hsa-miR-21	CLIP-seq
MIRT2073595	hsa-miR-2467-5p	CLIP-seq
MIRT1249176	hsa-miR-3065-3p	CLIP-seq
MIRT1249178	hsa-miR-335	CLIP-seq
MIRT2073596	hsa-miR-4310	CLIP-seq
MIRT2073597	hsa-miR-455-3p	CLIP-seq
MIRT2073598	hsa-miR-4713-5p	CLIP-seq
MIRT2073599	hsa-miR-4717-3p	CLIP-seq
MIRT2073600	hsa-miR-532-3p	CLIP-seq
MIRT1249189	hsa-miR-590-5p	CLIP-seq
MIRT1249175	hsa-miR-21	CLIP-seq
MIRT1249176	hsa-miR-3065-3p	CLIP-seq
MIRT1249178	hsa-miR-335	CLIP-seq
MIRT1249179	hsa-miR-362-5p	CLIP-seq
MIRT2073597	hsa-miR-455-3p	CLIP-seq
MIRT2073599	hsa-miR-4717-3p	CLIP-seq
MIRT1249185	hsa-miR-500b	CLIP-seq
MIRT1249186	hsa-miR-501-5p	CLIP-seq
MIRT1249189	hsa-miR-590-5p	CLIP-seq
MIRT1249174	hsa-miR-1257	CLIP-seq
MIRT1249175	hsa-miR-21	CLIP-seq
MIRT1249176	hsa-miR-3065-3p	CLIP-seq
MIRT1249178	hsa-miR-335	CLIP-seq
MIRT1249179	hsa-miR-362-5p	CLIP-seq
MIRT2597397	hsa-miR-4677-3p	CLIP-seq
MIRT2597398	hsa-miR-4679	CLIP-seq
MIRT1249185	hsa-miR-500b	CLIP-seq
MIRT1249186	hsa-miR-501-5p	CLIP-seq
MIRT1249189	hsa-miR-590-5p	CLIP-seq
MIRT1249174	hsa-miR-1257	CLIP-seq
MIRT1249175	hsa-miR-21	CLIP-seq
MIRT1249176	hsa-miR-3065-3p	CLIP-seq
MIRT1249178	hsa-miR-335	CLIP-seq
MIRT1249179	hsa-miR-362-5p	CLIP-seq
MIRT2597397	hsa-miR-4677-3p	CLIP-seq
MIRT2597398	hsa-miR-4679	CLIP-seq
MIRT1249185	hsa-miR-500b	CLIP-seq
MIRT1249186	hsa-miR-501-5p	CLIP-seq
MIRT1249189	hsa-miR-590-5p	CLIP-seq

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000428	Component	DNA-directed RNA polymerase complex	IEA
GO:0002376	Process	Immune system process	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003899	Function	DNA-directed RNA polymerase activity	IDA	34675218
GO:0003899	Function	DNA-directed RNA polymerase activity	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005666	Component	RNA polymerase III complex	IBA
GO:0005666	Component	RNA polymerase III complex	IDA	24107381, 33335104, 34675218
GO:0005737	Component	Cytoplasm	IDA	33335104
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006351	Process	DNA-templated transcription	IEA
GO:0006383	Process	Transcription by RNA polymerase III	IEA
GO:0008270	Function	Zinc ion binding	IDA	34675218
GO:0008270	Function	Zinc ion binding	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0032549	Function	Ribonucleoside binding	IEA
GO:0032728	Process	Positive regulation of interferon-beta production	IMP	19609254
GO:0034062	Function	5'-3' RNA polymerase activity	IEA
GO:0042796	Process	SnRNA transcription by RNA polymerase III	IDA	35637192
GO:0045087	Process	Innate immune response	IEA
GO:0045089	Process	Positive regulation of innate immune response	IMP	19609254
GO:0046872	Function	Metal ion binding	IEA
GO:0051607	Process	Defense response to virus	IEA
GO:0055029	Component	Nuclear DNA-directed RNA polymerase complex	IEA
GO:0071667	Function	DNA/RNA hybrid binding	IDA	34675218
GO:0071667	Function	DNA/RNA hybrid binding	IEA

MIM	HGNC	e!Ensembl
614366	30348	ENSG00000013503

Q9NW08

Protein name

DNA-directed RNA polymerase III subunit RPC2 (RNA polymerase III subunit C2) (EC 2.7.7.6) (C128) (DNA-directed RNA polymerase III 127.6 kDa polypeptide) (DNA-directed RNA polymerase III subunit B)

Protein function

Catalytic core component of RNA polymerase III (Pol III), a DNA-dependent RNA polymerase which synthesizes small non-coding RNAs using the four ribonucleoside triphosphates as substrates. Synthesizes 5S rRNA, snRNAs, tRNAs and miRNAs from at lea

PDB

7A6H , 7AE1 , 7AE3 , 7AEA , 7AST , 7D58 , 7D59 , 7DN3 , 7DU2 , 7FJI , 7FJJ , 8ITY , 8IUE , 8IUH , 9FSO , 9FSP , 9FSQ , 9FSR , 9FSS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04563	RNA_pol_Rpb2_1	38 → 413	RNA polymerase beta subunit	Family
PF04561	RNA_pol_Rpb2_2	185 → 363	RNA polymerase Rpb2, domain 2	Domain
PF04565	RNA_pol_Rpb2_3	438 → 502	RNA polymerase Rpb2, domain 3	Domain
PF04566	RNA_pol_Rpb2_4	539 → 600	RNA polymerase Rpb2, domain 4	Domain
PF04567	RNA_pol_Rpb2_5	621 → 661	RNA polymerase Rpb2, domain 5	Domain
PF00562	RNA_pol_Rpb2_6	668 → 1041	RNA polymerase Rpb2, domain 6	Domain
PF04560	RNA_pol_Rpb2_7	1043 → 1129	RNA polymerase Rpb2, domain 7	Domain

Sequence

MDVLAEEFGNLTPEQLAAPIPTVEEKWRLLPAFLKVKGLVKQHIDSFNYFINVEIKKIMK
ANEKVTSDADPMWYLKYLNIYVGLPDVEESFNVTRPVSPHECRLRDMTYSAPITVDIEYT
RGSQRIIRNALPIGRMPIMLRSSNCVLTGKTPAEFAKLNECPLDPGGYFIVKGVEKVILI
QEQLSKNRIIVEADRKGAVGASVTSSTHEKKSRTNMAVKQGRFYLRHNTLSEDIPIVIIF
KAMGVESDQEIVQMIGTEEHVMAAFGPSLEECQKAQIFTQMQALKYIGNKVRRQRMWGGG
PKKTKIEEARELLASTILTHVPVKEFNFRAKCIYTAVMVRRVILAQGDNKVDDRDYYGNK
RLELAGQLLSLLFEDLFKKFNSEMKKIADQVIPKQRAAQFDVVKHMRQDQITNGMVNAIS
TGNWSLKRFKMDRQGVTQVLSRLSYISALGMMTRISSQFEKTRKVSGPRSLQPSQWGMLC
PSDTPEGEACGLVKNLALMTHITTDMEDGPIVKLASNLGVEDVNLLCGEELSYPNVFLVF
LNGNILGVIRDHKKLVNTFRLMRRAGYINEFVSISTNLTDRCVYISSDGGRLCRPYIIVK
KQKPAVTNKHMEELAQGYRNFEDFLHESLVEYLDVNEENDCNIALYEHTINKDTTHLEIE
PFTLLGVCAGLIPYPHHNQSPRNTYQCAMGKQAMGTIGYNQRNRIDTLMYLLAYPQKPMV
KTKTIELIEFEKLPAGQNATVAVMSYSGYDIEDALVLNKASLDRGFGRCLVYKNAKCTLK
RYTNQTFDKVMGPMLDAATRKPIWRHEILDADGICSPGEKVENKQVLVNKSMPTVTQIPL
EGSNVPQQPQYKDVPITYKGATDSYIEKVMISSNAEDAFLIKMLLRQTRRPEIGDKFSSR
HGQKGVCGLIVPQEDMPFCDSGICPDIIMNPHGFPSRMTVGKLIELLAGKAGVLDGRFHY
GTAFGGSKVKDVCEDLVRHGYNYLGKDYVTSGITGEPLEAYIYFGPVYYQKLKHMVLDKM
HARARGPRAVLTRQPTEGRSRDGGLRLGEMERDCLIGYGASMLLLERLMISSDAFEVDVC
GQCGLLGYSGWCHYCKSSCHVSSLRIPYACKLLFQELQSMNIIPRLKLSKYNE

Sequence length

1133

Interactions

View interactions

	KEGG		Reactome
	RNA polymerase Cytosolic DNA-sensing pathway		Cytosolic sensors of pathogen-associated DNA RNA Polymerase III Transcription Initiation From Type 1 Promoter RNA Polymerase III Transcription Initiation From Type 2 Promoter RNA Polymerase III Transcription Initiation From Type 3 Promoter

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 (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Charcot-Marie-Tooth disease, demyelinating, IIA 1I	Likely pathogenic; Pathogenic	rs2037451945, rs2038648611, rs2136937347, rs767558518, rs2542229310, rs138249161, rs747912710, rs774526181, rs2037218302	RCV001836991 RCV001836992 RCV001837163 RCV005409917 RCV004527481 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colon adenocarcinoma	Pathogenic	rs753943393	RCV005897331	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Pathogenic	rs753943393	RCV005897330	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypogonadotropic hypogonadism	Likely pathogenic; Pathogenic	rs138249161	RCV001849282	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypogonadotropic hypogonadism 7 with or without anosmia	Likely pathogenic; Pathogenic	rs138249161, rs774526181	RCV000763295 RCV000763294	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	Likely pathogenic; Pathogenic	rs1437442253, rs2136887072, rs148879912, rs773891661, rs758437925, rs201401034, rs2137005362, rs763154774, rs965079938, rs797045895, rs755312623, rs767558518, rs1158662109, rs2542073597, rs2542167959 View all (14 more)	RCV002550263 RCV001542038 RCV001542041 RCV001542053 RCV001542598 View all (24 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism	Likely pathogenic; Pathogenic	rs138249161, rs774526181	RCV000763295 RCV000763294	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
POLR-related leukodystrophy	Likely pathogenic; Pathogenic	rs1437442253, rs138249161	RCV001841216 RCV001095758	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
POLR3B-related disorder	Likely pathogenic; Pathogenic	rs2037451945, rs138249161, rs2037218302	RCV004548196 RCV004549388 RCV001249292	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs1360058966, rs774526181	RCV005926779 RCV005898550	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (29)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amenorrhea	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA, EARLY ONSET	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar CTD	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Leukodystrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKODYSTROPHY, HYPOMYELINATING, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (88)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Addison Disease	Addison`s Disease	BEFREE	26204956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal cortical hypofunction	Adrenal Cortical Hypofunction	BEFREE	26204956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	22036171, 27029625	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	25311278	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anodontia	Anodontia	Pubtator	25339210, 33005949, 34666706	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	39217320	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	32319736, 33417887, 35482004	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	31969655	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31826912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	26478204		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	26478204	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	GWASCAT_DG	26424050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	31221184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	22036172, 26204956, 27029625, 35482004	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	35436926, 35482004	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	23364394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniofacial Abnormalities	Craniofacial abnormalities	Pubtator	35436926, 37197783	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	22036171, 25339210, 26478204, 27029625, 29618326, 33417887, 34666706, 35482004	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	32319736	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	26204956	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Elejalde Disease	Hereditary elliptocytosis	Pubtator	31089205	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endosteal sclerosis-cerebellar hypoplasia syndrome	Endosteal Sclerosis-Cerebellar Hypoplasia Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	31969655, 33417887, 35482004	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26424050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	GWASCAT_DG	26424050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26424050		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	GWASCAT_DG	26424050		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	GWASCAT_DG	26424050		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	37884559	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Horizontal Nystagmus	Horizontal nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	23643445, 24190003, 26151409		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	22036172, 25339210, 26204956, 27512013, 33005949, 34666706, 36042647	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism, Isolated Hypogonadotropic	Hypogonadism	BEFREE	27512013		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	23355746, 23643445, 26151409, 26204956		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome	Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	BEFREE	27029625		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism	Pubtator	27512013	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	26204956, 32319736, 33417887, 35436926, 35482004	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Language Disorders	Language development disorders	Pubtator	26204956	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	26204956	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	22036172, 23355746, 24105487, 24190003, 26011300, 26045207, 26151409, 26204956, 26478204, 27512013, 28051070, 28486794, 30548255, 31221184, 31368241, 31577365 View all (1 more)		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Leukodystrophy	Leukodystrophy	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Leukodystrophy Hypomyelinating 5	Hypomyelinating leukodystrophy	Pubtator	29618326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy Hypomyelinating with Hypodontia and Hypogonadotropic Hypogonadism	Hypomyelinating leukodystrophy	Pubtator	25339210, 26045207, 26204956, 26478204, 27512013, 28589944, 29618326, 32319736, 33005949, 36042647	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	25339210, 26045207, 26204956, 26478204, 28051070, 31368241, 33005949, 33417887, 36042647, 36451185, 37197783, 40176224	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM	Hypomyelinating Leukodystrophy WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM	UNIPROT_DG	22036171, 22036172, 23355746		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM	Hypomyelinating Leukodystrophy WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM	GENOMICS_ENGLAND_DG	24357685, 25655951		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM	Hypomyelinating Leukodystrophy WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism	Hypomyelinating Leukodystrophy, With Hypodontia And Hypogonadotropic Hypogonadism	GENOMICS_ENGLAND_DG	21937992		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism	Hypomyelinating Leukodystrophy, With Hypodontia And Hypogonadotropic Hypogonadism	ORPHANET_DG	22036172		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism	Hypomyelinating Leukodystrophy, With Hypodontia And Hypogonadotropic Hypogonadism	BEFREE	23643445, 26204956, 29618326		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism	Hypomyelinating Leukodystrophy, With Hypodontia And Hypogonadotropic Hypogonadism	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism	Hypomyelinating Leukodystrophy, With Hypodontia And Hypogonadotropic Hypogonadism	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukoencephalopathy	Leukoencephalopathy	BEFREE	22036171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	31826912	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31826912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	29346494, 36042647	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25635878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	33417887, 35482004	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	BEFREE	26478204		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	Pubtator	26478204	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	31368241	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tooth Abnormalities	Tooth abnormalities	Pubtator	36042647	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	26204956		★★★★★ ★☆☆☆☆ Found in Text Mining only

POLR3B (RNA polymerase III subunit B)