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	79621
Gene name	Ribonuclease H2 subunit B
Gene symbol	RNASEH2B
Synonyms (NCBI Gene)	AGS2DLEU8
Chromosome	13
Chromosome location	13q14.3
Summary	RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C) and specifically degrades the RNA of RNA:DNA hybrids. The protein encoded by this gene is the non-catalytic B subunit of RNase H2, which is thought to play a r

Show/Hide all (19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs74555752	T>G	Pathogenic	Missense variant, coding sequence variant
rs75184679	G>A	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs75186889	G>-	Pathogenic	5 prime UTR variant, splice donor variant, coding sequence variant
rs75325951	T>G	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs77301371	G>A	Pathogenic	Splice donor variant
rs78705382	C>T	Uncertain-significance, likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs79310911	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs146451037	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs367915667	G>A	Likely-pathogenic	Splice donor variant
rs372632599	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs777313709	G>A	Pathogenic	Splice acceptor variant
rs778933609	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs786205483	A>G	Pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs1057517815	A>G	Likely-pathogenic	Intron variant
rs1064797046	G>A	Likely-pathogenic	Intron variant
rs1342532406	G>A	Likely-pathogenic	Intron variant
rs1452451283	G>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1555257383	G>T	Pathogenic	Stop gained, coding sequence variant
rs1593470515	G>-	Likely-pathogenic	Coding sequence variant, splice donor variant

210

Show/Hide all (210)

miRTarBase ID	miRNA	Experiments	Reference
MIRT043749	hsa-miR-328-3p	CLASH	23622248
MIRT694085	hsa-miR-34b-3p	HITS-CLIP	23313552
MIRT694084	hsa-miR-216a-5p	HITS-CLIP	23313552
MIRT694083	hsa-miR-216b-5p	HITS-CLIP	23313552
MIRT694082	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT694081	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT694080	hsa-miR-940	HITS-CLIP	23313552
MIRT694079	hsa-miR-3929	HITS-CLIP	23313552
MIRT694078	hsa-miR-4419b	HITS-CLIP	23313552
MIRT694077	hsa-miR-4478	HITS-CLIP	23313552
MIRT694076	hsa-miR-3614-5p	HITS-CLIP	23313552
MIRT694075	hsa-miR-6500-3p	HITS-CLIP	23313552
MIRT694074	hsa-miR-5690	HITS-CLIP	23313552
MIRT694073	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT694072	hsa-miR-6746-5p	HITS-CLIP	23313552
MIRT694071	hsa-miR-6787-3p	HITS-CLIP	23313552
MIRT694070	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT694069	hsa-miR-1827	HITS-CLIP	23313552
MIRT694068	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT694067	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT694066	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT694065	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT694064	hsa-miR-6771-5p	HITS-CLIP	23313552
MIRT694063	hsa-miR-665	HITS-CLIP	23313552
MIRT631727	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT631726	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT631725	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT631724	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT631723	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT631722	hsa-miR-3605-3p	HITS-CLIP	23824327
MIRT631721	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT631720	hsa-miR-6776-5p	HITS-CLIP	23824327
MIRT631719	hsa-miR-2277-3p	HITS-CLIP	23824327
MIRT631718	hsa-miR-4252	HITS-CLIP	23824327
MIRT631717	hsa-miR-661	HITS-CLIP	23824327
MIRT631716	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT631715	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT631714	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT631713	hsa-miR-7703	HITS-CLIP	23824327
MIRT631712	hsa-miR-1262	HITS-CLIP	23824327
MIRT631711	hsa-miR-4701-3p	HITS-CLIP	23824327
MIRT631710	hsa-miR-6736-5p	HITS-CLIP	23824327
MIRT457848	hsa-miR-4481	PAR-CLIP	24398324
MIRT457849	hsa-miR-4745-5p	PAR-CLIP	24398324
MIRT457847	hsa-miR-4708-3p	PAR-CLIP	24398324
MIRT457846	hsa-miR-6077	PAR-CLIP	24398324
MIRT457845	hsa-miR-766-5p	PAR-CLIP	24398324
MIRT457844	hsa-miR-6878-5p	PAR-CLIP	24398324
MIRT457843	hsa-miR-6731-5p	PAR-CLIP	24398324
MIRT457842	hsa-miR-8085	PAR-CLIP	24398324
MIRT457841	hsa-miR-7106-5p	PAR-CLIP	24398324
MIRT457840	hsa-miR-6825-5p	PAR-CLIP	24398324
MIRT457839	hsa-miR-1233-5p	PAR-CLIP	24398324
MIRT457838	hsa-miR-6778-5p	PAR-CLIP	24398324
MIRT457837	hsa-miR-561-5p	PAR-CLIP	24398324
MIRT457836	hsa-miR-30c-1-3p	PAR-CLIP	24398324
MIRT457835	hsa-miR-30c-2-3p	PAR-CLIP	24398324
MIRT457834	hsa-miR-6788-5p	PAR-CLIP	24398324
MIRT457848	hsa-miR-4481	PAR-CLIP	23592263
MIRT457849	hsa-miR-4745-5p	PAR-CLIP	23592263
MIRT457847	hsa-miR-4708-3p	PAR-CLIP	23592263
MIRT457846	hsa-miR-6077	PAR-CLIP	23592263
MIRT457845	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT457844	hsa-miR-6878-5p	PAR-CLIP	23592263
MIRT457843	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT457842	hsa-miR-8085	PAR-CLIP	23592263
MIRT457841	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT457840	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT457839	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT457838	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT457836	hsa-miR-30c-1-3p	PAR-CLIP	23592263
MIRT457835	hsa-miR-30c-2-3p	PAR-CLIP	23592263
MIRT457834	hsa-miR-6788-5p	PAR-CLIP	23592263
MIRT457848	hsa-miR-4481	PAR-CLIP	23592263
MIRT457849	hsa-miR-4745-5p	PAR-CLIP	23592263
MIRT457847	hsa-miR-4708-3p	PAR-CLIP	23592263
MIRT457846	hsa-miR-6077	PAR-CLIP	23592263
MIRT457845	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT457844	hsa-miR-6878-5p	PAR-CLIP	23592263
MIRT457843	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT457842	hsa-miR-8085	PAR-CLIP	23592263
MIRT457841	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT457840	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT457839	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT457838	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT457837	hsa-miR-561-5p	PAR-CLIP	23592263
MIRT457836	hsa-miR-30c-1-3p	PAR-CLIP	23592263
MIRT457835	hsa-miR-30c-2-3p	PAR-CLIP	23592263
MIRT457834	hsa-miR-6788-5p	PAR-CLIP	23592263
MIRT694085	hsa-miR-34b-3p	HITS-CLIP	23313552
MIRT694084	hsa-miR-216a-5p	HITS-CLIP	23313552
MIRT694083	hsa-miR-216b-5p	HITS-CLIP	23313552
MIRT694082	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT694081	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT694080	hsa-miR-940	HITS-CLIP	23313552
MIRT694079	hsa-miR-3929	HITS-CLIP	23313552
MIRT694078	hsa-miR-4419b	HITS-CLIP	23313552
MIRT694077	hsa-miR-4478	HITS-CLIP	23313552
MIRT694076	hsa-miR-3614-5p	HITS-CLIP	23313552
MIRT694075	hsa-miR-6500-3p	HITS-CLIP	23313552
MIRT694074	hsa-miR-5690	HITS-CLIP	23313552
MIRT694073	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT694072	hsa-miR-6746-5p	HITS-CLIP	23313552
MIRT694071	hsa-miR-6787-3p	HITS-CLIP	23313552
MIRT694070	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT694069	hsa-miR-1827	HITS-CLIP	23313552
MIRT694068	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT694067	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT694066	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT694065	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT694064	hsa-miR-6771-5p	HITS-CLIP	23313552
MIRT694063	hsa-miR-665	HITS-CLIP	23313552
MIRT631727	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT631726	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT631725	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT631724	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT631723	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT631722	hsa-miR-3605-3p	HITS-CLIP	23824327
MIRT631721	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT631720	hsa-miR-6776-5p	HITS-CLIP	23824327
MIRT631719	hsa-miR-2277-3p	HITS-CLIP	23824327
MIRT631718	hsa-miR-4252	HITS-CLIP	23824327
MIRT631717	hsa-miR-661	HITS-CLIP	23824327
MIRT631716	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT631715	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT631714	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT631713	hsa-miR-7703	HITS-CLIP	23824327
MIRT631712	hsa-miR-1262	HITS-CLIP	23824327
MIRT631711	hsa-miR-4701-3p	HITS-CLIP	23824327
MIRT631710	hsa-miR-6736-5p	HITS-CLIP	23824327
MIRT457848	hsa-miR-4481	PAR-CLIP	24398324
MIRT457849	hsa-miR-4745-5p	PAR-CLIP	24398324
MIRT457847	hsa-miR-4708-3p	PAR-CLIP	24398324
MIRT457846	hsa-miR-6077	PAR-CLIP	24398324
MIRT457845	hsa-miR-766-5p	PAR-CLIP	24398324
MIRT457844	hsa-miR-6878-5p	PAR-CLIP	24398324
MIRT457843	hsa-miR-6731-5p	PAR-CLIP	24398324
MIRT457842	hsa-miR-8085	PAR-CLIP	24398324
MIRT457841	hsa-miR-7106-5p	PAR-CLIP	24398324
MIRT457840	hsa-miR-6825-5p	PAR-CLIP	24398324
MIRT457839	hsa-miR-1233-5p	PAR-CLIP	24398324
MIRT457838	hsa-miR-6778-5p	PAR-CLIP	24398324
MIRT457837	hsa-miR-561-5p	PAR-CLIP	24398324
MIRT457836	hsa-miR-30c-1-3p	PAR-CLIP	24398324
MIRT457835	hsa-miR-30c-2-3p	PAR-CLIP	24398324
MIRT457834	hsa-miR-6788-5p	PAR-CLIP	24398324
MIRT457848	hsa-miR-4481	PAR-CLIP	23592263
MIRT457849	hsa-miR-4745-5p	PAR-CLIP	23592263
MIRT457847	hsa-miR-4708-3p	PAR-CLIP	23592263
MIRT457846	hsa-miR-6077	PAR-CLIP	23592263
MIRT457845	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT457844	hsa-miR-6878-5p	PAR-CLIP	23592263
MIRT457843	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT457842	hsa-miR-8085	PAR-CLIP	23592263
MIRT457841	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT457840	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT457839	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT457838	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT457836	hsa-miR-30c-1-3p	PAR-CLIP	23592263
MIRT457835	hsa-miR-30c-2-3p	PAR-CLIP	23592263
MIRT457834	hsa-miR-6788-5p	PAR-CLIP	23592263
MIRT457848	hsa-miR-4481	PAR-CLIP	23592263
MIRT457849	hsa-miR-4745-5p	PAR-CLIP	23592263
MIRT457847	hsa-miR-4708-3p	PAR-CLIP	23592263
MIRT457846	hsa-miR-6077	PAR-CLIP	23592263
MIRT457845	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT457844	hsa-miR-6878-5p	PAR-CLIP	23592263
MIRT457843	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT457842	hsa-miR-8085	PAR-CLIP	23592263
MIRT457841	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT457840	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT457839	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT457838	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT457837	hsa-miR-561-5p	PAR-CLIP	23592263
MIRT457836	hsa-miR-30c-1-3p	PAR-CLIP	23592263
MIRT457835	hsa-miR-30c-2-3p	PAR-CLIP	23592263
MIRT457834	hsa-miR-6788-5p	PAR-CLIP	23592263
MIRT1308712	hsa-miR-1321	CLIP-seq
MIRT1308713	hsa-miR-140-5p	CLIP-seq
MIRT1308714	hsa-miR-197	CLIP-seq
MIRT1308715	hsa-miR-224	CLIP-seq
MIRT1308716	hsa-miR-3545-5p	CLIP-seq
MIRT1308717	hsa-miR-376c	CLIP-seq
MIRT1308718	hsa-miR-4270	CLIP-seq
MIRT1308719	hsa-miR-4441	CLIP-seq
MIRT1308720	hsa-miR-4460	CLIP-seq
MIRT1308721	hsa-miR-4685-5p	CLIP-seq
MIRT1308722	hsa-miR-4739	CLIP-seq
MIRT1308723	hsa-miR-4756-5p	CLIP-seq
MIRT1308724	hsa-miR-552	CLIP-seq
MIRT1308725	hsa-miR-764	CLIP-seq
MIRT2091595	hsa-miR-375	CLIP-seq
MIRT2091596	hsa-miR-873	CLIP-seq
MIRT2316186	hsa-miR-106a	CLIP-seq
MIRT2316187	hsa-miR-106b	CLIP-seq
MIRT2316188	hsa-miR-17	CLIP-seq
MIRT2316189	hsa-miR-20a	CLIP-seq
MIRT2316190	hsa-miR-20b	CLIP-seq
MIRT2316191	hsa-miR-298	CLIP-seq
MIRT2316192	hsa-miR-3613-3p	CLIP-seq
MIRT2316193	hsa-miR-3662	CLIP-seq
MIRT2316194	hsa-miR-519a	CLIP-seq
MIRT2316195	hsa-miR-519b-3p	CLIP-seq
MIRT2316196	hsa-miR-519c-3p	CLIP-seq
MIRT2316197	hsa-miR-519d	CLIP-seq
MIRT2316198	hsa-miR-548t	CLIP-seq
MIRT2316199	hsa-miR-582-5p	CLIP-seq
MIRT2316200	hsa-miR-93	CLIP-seq
MIRT1308714	hsa-miR-197	CLIP-seq
MIRT1308715	hsa-miR-224	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0005515	Function	Protein binding	IPI	30889214
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IBA
GO:0005654	Component	Nucleoplasm	IDA
GO:0006139	Process	Nucleobase-containing compound metabolic process	IEA
GO:0006298	Process	Mismatch repair	NAS	21177858
GO:0006401	Process	RNA catabolic process	IBA
GO:0006401	Process	RNA catabolic process	IDA	21177858
GO:0009259	Process	Ribonucleotide metabolic process	IEA
GO:0010389	Process	Regulation of G2/M transition of mitotic cell cycle	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0032299	Component	Ribonuclease H2 complex	IBA
GO:0032299	Component	Ribonuclease H2 complex	IDA	21177858
GO:0032299	Component	Ribonuclease H2 complex	IEA
GO:0032299	Component	Ribonuclease H2 complex	IPI	21177858
GO:0048144	Process	Fibroblast proliferation	IEA
GO:0048146	Process	Positive regulation of fibroblast proliferation	IEA
GO:2000001	Process	Regulation of DNA damage checkpoint	IEA

MIM	HGNC	e!Ensembl
610326	25671	ENSG00000136104

Q5TBB1

Protein name

Ribonuclease H2 subunit B (RNase H2 subunit B) (Aicardi-Goutieres syndrome 2 protein) (AGS2) (Deleted in lymphocytic leukemia 8) (Ribonuclease HI subunit B)

Protein function

Non catalytic subunit of RNase H2, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers during DNA replication. M

PDB

3P56 , 3P87 , 3PUF , 8YJZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF17745	Ydr279_N	25 → 92	Ydr279p protein triple barrel domain	Domain
PF09468	RNase_H2-Ydr279	95 → 229	Ydr279p protein family (RNase H2 complex component) wHTH domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:16845400}.

Sequence

MAAGVDCGDGVGARQHVFLVSEYLKDASKKMKNGLMFVKLVNPCSGEGAIYLFNMCLQQL
FEVKVFKEKHHSWFINQSVQSGGLLHFATPVDPLFLLLHYLIKADKEGKFQPLDQVVVDN
VFPNCILLLKLPGLEKLLHHVTEEKGNPEIDNKKYYKYSKEKTLKWLEKKVNQTVAALKT
NNVNVSSRVQSTAFFSGDQASTDKEEDYIRYAHGLISDYIPKELSDDLSKYLKLPEPSAS
LPNPPSKKIKLSDEPVEAKEDYTKFNTKDLKTEKKNSKMTAAQKALAKVDKSGMKSIDTF
FGVKNKKKIGKV

Sequence length

312

Interactions

View interactions

	KEGG
	DNA replication

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
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs75184679	RCV001813931	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aicardi Goutieres syndrome	Pathogenic; Likely pathogenic	rs2137952274, rs75184679, rs1337018128, rs367915667, rs75186889, rs75325951	RCV003235636 RCV000343151 RCV003490846 RCV001192743 RCV004800537 RCV004689883 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aicardi-Goutieres syndrome 1	Likely pathogenic; Pathogenic	rs786205483	RCV003987401	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aicardi-Goutieres syndrome 2	Likely pathogenic; Pathogenic	rs80087649, rs74876702, rs2137866137, rs2137982729, rs75326546, rs2137952274, rs2137925083, rs2137866660, rs75184679, rs74555752, rs786205483, rs772788079, rs367915667, rs2541543792, rs767139201 View all (20 more)	RCV002046000 RCV001384074 RCV002007221 RCV001993362 RCV001917925 View all (32 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autism spectrum disorder	Likely pathogenic; Pathogenic	rs75184679	RCV003125824	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral palsy	Likely pathogenic; Pathogenic	rs75184679	RCV001293274	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clear cell carcinoma of kidney	Likely pathogenic	rs751915137	RCV005931503	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia	Likely pathogenic; Pathogenic	rs75184679	RCV005624663	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Papillary renal cell carcinoma type 1	Pathogenic	rs75186889	RCV005870795	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RNASEH2B-related disorder	Likely pathogenic; Pathogenic	rs75184679, rs75186889	RCV003415614 RCV003918124	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (19)

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.
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AICARDI-GOUTIERES SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN PROSTATIC HYPERPLASIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RNASEH2B-RELATED HEREDITARY SPASTIC PARAPLEGIA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RNASEH2B-RELATED TYPE 1 INTERFERONOPATHY	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (92)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired porencephaly	Acquired Porencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	30532030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	28739201	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aicardi Goutieres syndrome	Aicardi goutieres syndrome	Pubtator	17846997, 19015152, 23592335, 24183309, 25604658, 25769924, 28739201, 28762473, 31559893, 31678772, 31920009, 33482855, 33981319, 35262626, 35551623, 37296061, 38041217, 38368708 View all (3 more)	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	15908569, 19015152, 22882256, 24183309, 26182405, 28762473, 29030706, 31678772		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	CLINVAR_DG	16845400, 17846997, 19034401, 20131292, 25243380, 25274781, 25343331, 25604658, 26182405, 26846091, 26903602		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
	Aicardi Goutieres Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	GENOMICS_ENGLAND_DG	25604658		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AICARDI-GOUTIERES SYNDROME 1	Aicardi Goutieres Syndrome	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aicardi-Goutieres Syndrome 2	Aicardi Goutieres Syndrome	GENOMICS_ENGLAND_DG	16845400, 24357685, 25604658, 28762473, 29239743		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aicardi-Goutieres Syndrome 2	Aicardi Goutieres Syndrome	UNIPROT_DG	16845400, 17846997, 20131292, 21177858		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aicardi-Goutieres Syndrome 2	Aicardi Goutieres Syndrome	CLINVAR_DG	16845400, 17846997, 18754903, 19015152, 19034401, 19694776, 20131292, 25243380, 25274781, 25343331, 26182405, 26846091, 28762473		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aicardi-Goutieres Syndrome 2	Aicardi Goutieres Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aortic Aneurysm	Aortic Aneurysm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arhinencephaly	Arrhinencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	33482855	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	33482855	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	28762473	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	29030706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	31467233	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	34655526	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	28762473	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chilblains	Chilblain lesions	BEFREE	28332073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chilblains	Chilblain lesions	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	30273559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Degeneration of the striatum	Degeneration of the striatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	35551623	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	26581299	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	35551623	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Enchondroma	Enchondroma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	35551623	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma of childhood	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29030706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29030706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Growth Disorders	Growth disorder	Pubtator	35551623	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	33482855	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	35551623	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	33482855	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	35551623	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	38561019	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	35551623	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	35551623	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	35551623	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphocytosis	Lymphocytosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	29973717		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	35551623	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Skills Disorders	Motor skills disorder	Pubtator	35551623	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Alloimmune Thrombocytopenia	Alloimmune Thrombocytopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Panniculitis	Panniculitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Porencephalic cyst	Porencephalic cyst	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29030706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32800727, 35179959	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudo-TORCH syndrome	Pseudo-TORCH Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Raynaud Phenomenon	Raynaud Phenomenon	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	24532677		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	25243380		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	30223285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	35551623	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

RNASEH2B (ribonuclease H2 subunit B)