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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5932
Gene name	RB binding protein 8, endonuclease
Gene symbol	RBBP8
Synonyms (NCBI Gene)	COM1CTIPJAWADJWDSRIMSAE2SCKL2
Chromosome	18
Chromosome location	18q11.2
Summary	The protein encoded by this gene is a ubiquitously expressed nuclear protein. It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. This protein complexes with transcriptional co-repressor CTB

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434388	A>G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs373804633	C>G,T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs587776883	T>G	Pathogenic	Intron variant
rs587776884	TA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587780432	G>T	Pathogenic	Splice donor variant
rs762396810	C>T	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1064796899	C>T	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant

152

Show/Hide all (152)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019821	hsa-miR-375	Microarray	20215506
MIRT469541	hsa-miR-3174	PAR-CLIP	23592263
MIRT469540	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT469539	hsa-miR-5186	PAR-CLIP	23592263
MIRT469538	hsa-miR-6087	PAR-CLIP	23592263
MIRT469537	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT469536	hsa-miR-6086	PAR-CLIP	23592263
MIRT469535	hsa-miR-1236-5p	PAR-CLIP	23592263
MIRT469534	hsa-miR-4765	PAR-CLIP	23592263
MIRT469533	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT469532	hsa-miR-658	PAR-CLIP	23592263
MIRT469531	hsa-miR-25-5p	PAR-CLIP	23592263
MIRT469530	hsa-miR-1227-3p	PAR-CLIP	23592263
MIRT469529	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT469528	hsa-miR-550b-2-5p	PAR-CLIP	23592263
MIRT469527	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT469526	hsa-miR-4459	PAR-CLIP	23592263
MIRT079744	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT079745	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT469535	hsa-miR-1236-5p	PAR-CLIP	26701625
MIRT469535	hsa-miR-1236-5p	PAR-CLIP	26701625
MIRT469535	hsa-miR-1236-5p	PAR-CLIP	26701625
MIRT469540	hsa-miR-1247-3p	PAR-CLIP	26701625
MIRT469540	hsa-miR-1247-3p	PAR-CLIP	26701625
MIRT469540	hsa-miR-1247-3p	PAR-CLIP	26701625
MIRT469531	hsa-miR-25-5p	PAR-CLIP	26701625
MIRT469531	hsa-miR-25-5p	PAR-CLIP	26701625
MIRT469531	hsa-miR-25-5p	PAR-CLIP	26701625
MIRT469541	hsa-miR-3174	PAR-CLIP	26701625
MIRT469541	hsa-miR-3174	PAR-CLIP	26701625
MIRT469541	hsa-miR-3174	PAR-CLIP	26701625
MIRT469537	hsa-miR-377-5p	PAR-CLIP	26701625
MIRT469537	hsa-miR-377-5p	PAR-CLIP	26701625
MIRT469537	hsa-miR-377-5p	PAR-CLIP	26701625
MIRT469526	hsa-miR-4459	PAR-CLIP	26701625
MIRT469526	hsa-miR-4459	PAR-CLIP	26701625
MIRT469526	hsa-miR-4459	PAR-CLIP	26701625
MIRT469529	hsa-miR-455-3p	PAR-CLIP	26701625
MIRT469529	hsa-miR-455-3p	PAR-CLIP	26701625
MIRT469529	hsa-miR-455-3p	PAR-CLIP	26701625
MIRT469534	hsa-miR-4765	PAR-CLIP	26701625
MIRT469534	hsa-miR-4765	PAR-CLIP	26701625
MIRT469534	hsa-miR-4765	PAR-CLIP	26701625
MIRT469539	hsa-miR-5186	PAR-CLIP	26701625
MIRT469539	hsa-miR-5186	PAR-CLIP	26701625
MIRT469539	hsa-miR-5186	PAR-CLIP	26701625
MIRT469536	hsa-miR-6086	PAR-CLIP	26701625
MIRT469536	hsa-miR-6086	PAR-CLIP	26701625
MIRT469536	hsa-miR-6086	PAR-CLIP	26701625
MIRT469538	hsa-miR-6087	PAR-CLIP	26701625
MIRT469538	hsa-miR-6087	PAR-CLIP	26701625
MIRT469538	hsa-miR-6087	PAR-CLIP	26701625
MIRT469533	hsa-miR-6499-3p	PAR-CLIP	26701625
MIRT469533	hsa-miR-6499-3p	PAR-CLIP	26701625
MIRT469533	hsa-miR-6499-3p	PAR-CLIP	26701625
MIRT469527	hsa-miR-6516-5p	PAR-CLIP	26701625
MIRT469527	hsa-miR-6516-5p	PAR-CLIP	26701625
MIRT469527	hsa-miR-6516-5p	PAR-CLIP	26701625
MIRT469532	hsa-miR-658	PAR-CLIP	26701625
MIRT469532	hsa-miR-658	PAR-CLIP	26701625
MIRT469532	hsa-miR-658	PAR-CLIP	26701625
MIRT469541	hsa-miR-3174	PAR-CLIP	23592263
MIRT469540	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT469539	hsa-miR-5186	PAR-CLIP	23592263
MIRT469538	hsa-miR-6087	PAR-CLIP	23592263
MIRT469537	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT469536	hsa-miR-6086	PAR-CLIP	23592263
MIRT469535	hsa-miR-1236-5p	PAR-CLIP	23592263
MIRT469534	hsa-miR-4765	PAR-CLIP	23592263
MIRT469533	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT469532	hsa-miR-658	PAR-CLIP	23592263
MIRT469531	hsa-miR-25-5p	PAR-CLIP	23592263
MIRT469530	hsa-miR-1227-3p	PAR-CLIP	23592263
MIRT469529	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT469528	hsa-miR-550b-2-5p	PAR-CLIP	23592263
MIRT469527	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT469526	hsa-miR-4459	PAR-CLIP	23592263
MIRT1293978	hsa-miR-1237	CLIP-seq
MIRT1293979	hsa-miR-1248	CLIP-seq
MIRT1293980	hsa-miR-130a	CLIP-seq
MIRT1293981	hsa-miR-130b	CLIP-seq
MIRT1293982	hsa-miR-142-5p	CLIP-seq
MIRT1293983	hsa-miR-18a	CLIP-seq
MIRT1293984	hsa-miR-18b	CLIP-seq
MIRT1293985	hsa-miR-19a	CLIP-seq
MIRT1293986	hsa-miR-19b	CLIP-seq
MIRT1293987	hsa-miR-205	CLIP-seq
MIRT1293988	hsa-miR-301a	CLIP-seq
MIRT1293989	hsa-miR-301b	CLIP-seq
MIRT1293990	hsa-miR-3182	CLIP-seq
MIRT1293991	hsa-miR-331-5p	CLIP-seq
MIRT1293992	hsa-miR-34c-3p	CLIP-seq
MIRT1293993	hsa-miR-3646	CLIP-seq
MIRT1293994	hsa-miR-3662	CLIP-seq
MIRT1293995	hsa-miR-3666	CLIP-seq
MIRT1293996	hsa-miR-4295	CLIP-seq
MIRT1293997	hsa-miR-454	CLIP-seq
MIRT1293998	hsa-miR-4652-3p	CLIP-seq
MIRT1293999	hsa-miR-4678	CLIP-seq
MIRT1294000	hsa-miR-4698	CLIP-seq
MIRT1294001	hsa-miR-4735-3p	CLIP-seq
MIRT1294002	hsa-miR-4793-5p	CLIP-seq
MIRT1294003	hsa-miR-518a-3p	CLIP-seq
MIRT1294004	hsa-miR-518b	CLIP-seq
MIRT1294005	hsa-miR-518c	CLIP-seq
MIRT1294006	hsa-miR-518d-3p	CLIP-seq
MIRT1294007	hsa-miR-518f	CLIP-seq
MIRT1294008	hsa-miR-548a-3p	CLIP-seq
MIRT1294009	hsa-miR-548a-5p	CLIP-seq
MIRT1294010	hsa-miR-548ab	CLIP-seq
MIRT1294011	hsa-miR-548ac	CLIP-seq
MIRT1294012	hsa-miR-548ae	CLIP-seq
MIRT1294013	hsa-miR-548aj	CLIP-seq
MIRT1294014	hsa-miR-548ak	CLIP-seq
MIRT1294015	hsa-miR-548am	CLIP-seq
MIRT1294016	hsa-miR-548b-5p	CLIP-seq
MIRT1294017	hsa-miR-548c-5p	CLIP-seq
MIRT1294018	hsa-miR-548d-3p	CLIP-seq
MIRT1294019	hsa-miR-548d-5p	CLIP-seq
MIRT1294020	hsa-miR-548e	CLIP-seq
MIRT1294021	hsa-miR-548f	CLIP-seq
MIRT1294022	hsa-miR-548g	CLIP-seq
MIRT1294023	hsa-miR-548h	CLIP-seq
MIRT1294024	hsa-miR-548i	CLIP-seq
MIRT1294025	hsa-miR-548j	CLIP-seq
MIRT1294026	hsa-miR-548k	CLIP-seq
MIRT1294027	hsa-miR-548l	CLIP-seq
MIRT1294028	hsa-miR-548m	CLIP-seq
MIRT1294029	hsa-miR-548p	CLIP-seq
MIRT1294030	hsa-miR-548w	CLIP-seq
MIRT1294031	hsa-miR-548x	CLIP-seq
MIRT1294032	hsa-miR-548y	CLIP-seq
MIRT1294033	hsa-miR-548z	CLIP-seq
MIRT1294034	hsa-miR-559	CLIP-seq
MIRT1293982	hsa-miR-142-5p	CLIP-seq
MIRT1293991	hsa-miR-331-5p	CLIP-seq
MIRT1293992	hsa-miR-34c-3p	CLIP-seq
MIRT1293999	hsa-miR-4678	CLIP-seq
MIRT1294009	hsa-miR-548a-5p	CLIP-seq
MIRT1294010	hsa-miR-548ab	CLIP-seq
MIRT1294014	hsa-miR-548ak	CLIP-seq
MIRT1294016	hsa-miR-548b-5p	CLIP-seq
MIRT1294017	hsa-miR-548c-5p	CLIP-seq
MIRT1294019	hsa-miR-548d-5p	CLIP-seq
MIRT1294023	hsa-miR-548h	CLIP-seq
MIRT1294024	hsa-miR-548i	CLIP-seq
MIRT1294025	hsa-miR-548j	CLIP-seq
MIRT1294026	hsa-miR-548k	CLIP-seq
MIRT1294027	hsa-miR-548l	CLIP-seq
MIRT1294030	hsa-miR-548w	CLIP-seq
MIRT1294032	hsa-miR-548y	CLIP-seq
MIRT1294034	hsa-miR-559	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
YBX1	Repression	20596676
ZNF350	Unknown	20713352

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000014	Function	Single-stranded DNA endodeoxyribonuclease activity	IMP	18716619, 19202191, 31802118
GO:0000082	Process	G1/S transition of mitotic cell cycle	IEA
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	27814491, 27889449, 30787182, 31802118
GO:0000724	Process	Double-strand break repair via homologous recombination	IMP	26721387
GO:0001835	Process	Blastocyst hatching	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003684	Function	Damaged DNA binding	IBA
GO:0003684	Function	Damaged DNA binding	IDA	18716619
GO:0003714	Function	Transcription corepressor activity	IDA	16287852
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0005515	Function	Protein binding	IPI	9811458, 10779361, 11739404, 11751867, 16101277, 16287852, 17525340, 18285836, 18716619, 19369211, 19759395, 21052091, 22565321, 22773103, 25416956, 25558984, 26721387, 26807646, 27561354, 28834754, 29042561, 29656893, 32296183, 34591612
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	18171670
GO:0005634	Component	Nucleus	TAS	10764811
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0010792	Process	DNA double-strand break processing involved in repair via single-strand annealing	IBA
GO:0010792	Process	DNA double-strand break processing involved in repair via single-strand annealing	IMP	18716619, 19202191
GO:0016787	Function	Hydrolase activity	IEA
GO:0017053	Component	Transcription repressor complex	IDA	16287852
GO:0035825	Process	Homologous recombination	NAS	30657944
GO:0035861	Component	Site of double-strand break	IDA	27814491, 27889449, 31802118, 33836577
GO:0042802	Function	Identical protein binding	IPI	25558984
GO:0044818	Process	Mitotic G2/M transition checkpoint	NAS	22369660
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051301	Process	Cell division	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	16287852
GO:0070533	Component	BRCA1-C complex	IPI	16391231
GO:0110025	Process	DNA strand resection involved in replication fork processing	IDA	29670289, 30612738
GO:0110025	Process	DNA strand resection involved in replication fork processing	IDA	23273981, 27814491, 27889449, 30787182
GO:0110025	Process	DNA strand resection involved in replication fork processing	NAS	29709199

MIM	HGNC	e!Ensembl
604124	9891	ENSG00000101773

Q99708

Protein name

DNA endonuclease RBBP8 (EC 3.1.-.-) (CtBP-interacting protein) (CtIP) (Retinoblastoma-binding protein 8) (RBBP-8) (Retinoblastoma-interacting protein and myosin-like) (RIM) (Sporulation in the absence of SPO11 protein 2 homolog) (SAE2)

Protein function

Endonuclease that cooperates with the MRE11-RAD50-NBN (MRN) complex in DNA-end resection, the first step of double-strand break (DSB) repair through the homologous recombination (HR) pathway (PubMed:17965729, PubMed:19202191, PubMed:19759395, Pu

PDB

1Y98 , 2L4Z , 4D2H , 7BGF

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10482	CtIP_N	20 → 139	Tumour-suppressor protein CtIP N-terminal domain	Coiled-coil
PF08573	SAE2	822 → 858	DNA repair protein endonuclease SAE2/CtIP C-terminus	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in ER-positive breast cancer lines, but tends to be down-regulated ER-negative cells (at protein level). {ECO:0000269|PubMed:18171986}.

Sequence

MNISGSSCGSPNSADTSSDFKDLWTKLKECHDREVQGLQVKVTKLKQERILDAQRLEEFF
TKNQQLREQQKVLHETIKVLEDRLRAGLCDRCAVTEEHMRKKQQEFENIRQQNLKLITEL
MNERNTLQEENKKLSEQLQQKIENDQQHQAAELECEEDVIPDSPITAFSFSGVNRLRRKE
NPHVRYIEQTHTKLEHSVCANEMRKVSKSSTHPQHNPNENEILVADTYDQSQSPMAKAHG
TSSYTPDKSSFNLATVVAETLGLGVQEESETQGPMSPLGDELYHCLEGNHKKQPFEESTR
NTEDSLRFSDSTSKTPPQEELPTRVSSPVFGATSSIKSGLDLNTSLSPSLLQPGKKKHLK
TLPFSNTCISRLEKTRSKSEDSALFTHHSLGSEVNKIIIQSSNKQILINKNISESLGEQN
RTEYGKDSNTDKHLEPLKSLGGRTSKRKKTEEESEHEVSCPQASFDKENAFPFPMDNQFS
MNGDCVMDKPLDLSDRFSAIQRQEKSQGSETSKNKFRQVTLYEALKTIPKGFSSSRKASD
GNCTLPKDSPGEPCSQECIILQPLNKCSPDNKPSLQIKEENAVFKIPLRPRESLETENVL
DDIKSAGSHEPIKIQTRSDHGGCELASVLQLNPCRTGKIKSLQNNQDVSFENIQWSIDPG
ADLSQYKMDVTVIDTKDGSQSKLGGETVDMDCTLVSETVLLKMKKQEQKGEKSSNEERKM
NDSLEDMFDRTTHEEYESCLADSFSQAADEEEELSTATKKLHTHGDKQDKVKQKAFVEPY
FKGDERETSLQNFPHIEVVRKKEERRKLLGHTCKECEIYYADMPAEEREKKLASCSRHRF
RYIPPNTPENFWEVGFPSTQTCMERGYIKEDLDPCPRPKRRQPYNAIFSPKGKEQKT

Sequence length

897

Interactions

View interactions

	KEGG		Reactome
	Homologous recombination		HDR through Single Strand Annealing (SSA) HDR through MMEJ (alt-NHEJ) HDR through Homologous Recombination (HRR) Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) Resolution of D-loop Structures through Holliday Junction Intermediates Homologous DNA Pairing and Strand Exchange Processing of DNA double-strand break ends Presynaptic phase of homologous DNA pairing and strand exchange Regulation of TP53 Activity through Phosphorylation G2/M DNA damage checkpoint Transcriptional Regulation by E2F6

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
Jawad syndrome	Pathogenic; Likely pathogenic	rs1913849770, rs2045952037, rs2045882525, rs587776884	RCV001335995 RCV001808071 RCV002244119 RCV000023362	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RBBP8-related disorder	Likely pathogenic	rs749174131	RCV002308497	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seckel syndrome 2	Likely pathogenic; Pathogenic	rs2045882525, rs762396810, rs587776883	RCV002244119 RCV002272237 RCV000023361	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (23)

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	Benign; -	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of pancreas	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET MYASTHENIA GRAVIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY WITH MENTAL RETARDATION AND DIGITAL ANOMALIES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY-DIGITAL ANOMALIES SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seckel syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (93)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29855336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	27418160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	22544744	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia Like Disorder	Ataxia telangiectasia	Pubtator	23080121	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign tumor of pancreas	Benign Tumor Of Pancreas	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	23443904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10815897, 11034106, 12174869, 15957166, 18095152, 18171986, 23353824		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	18171986, 21799032, 23468639, 24403251, 32379725, 34718410	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	30622325, 9535825	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10815897, 12174869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	23443904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20335521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	12414815, 23770684	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	25053769		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	BEFREE	26333564		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	26333564		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	31628488		★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	31628488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	28734530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	12174869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30915754, 35106666, 37713468	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	29952772		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	27399284, 30306255	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	29855336	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	20364137, 27418160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	20364137, 31250579	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Jawad syndrome	Jawad Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukemia	Leukemia	Pubtator	23536721	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23349304	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10815897, 11034106, 15957166, 18095152, 18171986, 22157079, 23353824		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17016631, 17089023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31636387		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	23443904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15957166, 23443904, 25860128, 26063074, 28122957, 30306255, 30622325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	16249056		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	15957166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18095152, 18171986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	21998596	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	BEFREE	24440292, 26333564		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly with Mental Retardation and Digital Anomalies	Microcephaly	Pubtator	21998596	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
microcephaly-digital anomalies syndrome	Microcephaly-Digital Anomalies Syndrome	GENOMICS_ENGLAND_DG	11781686		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
microcephaly-digital anomalies syndrome	Microcephaly-Digital Anomalies Syndrome	BEFREE	21998596		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
microcephaly-digital anomalies syndrome	Microcephaly-Digital Anomalies Syndrome	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
microcephaly-digital anomalies syndrome	Microcephaly-Digital Anomalies Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
microcephaly-digital anomalies syndrome	Microcephaly-Digital Anomalies Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microdontia (disorder)	Microdontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microglossia	Microglossia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	30622325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	30622325, 35414773	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	GWASCAT_DG	26562150		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	29845587		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10815897, 16101277, 17016631, 17089023, 18604545, 19083478, 19270026, 20335521, 22157079, 22493353, 23353824, 23443904, 25860128, 26063074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	18171986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	30646895		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary microcephaly	Microcephaly	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17016631, 17089023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	17016631		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32300177	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	19270026		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	24403251	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seckel syndrome	Seckel Syndrome	BEFREE	21998596		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Seckel syndrome	Seckel Syndrome	ORPHANET_DG	21998596		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Seckel syndrome	Seckel Syndrome	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Seckel syndrome 1	Seckel syndrome	Pubtator	21998596	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SECKEL SYNDROME 2	Seckel Syndrome	GENOMICS_ENGLAND_DG	21998596		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SECKEL SYNDROME 2	Seckel Syndrome	UNIPROT_DG	21998596, 24389050		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SECKEL SYNDROME 2	Seckel Syndrome	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SECKEL SYNDROME 2	Seckel Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Small cell carcinoma of lung	Lung carcinoma	BEFREE	26063074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31636387		★★★★★ ★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	17101797		★★★★★ ★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	BEFREE	26333564		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	14571270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	29445424, 36076047	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	31418900	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

RBBP8 (RB binding protein 8, endonuclease)