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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55213
Gene name	RCC1 and BTB domain containing protein 1
Gene symbol	RCBTB1
Synonyms (NCBI Gene)	CLLD7CLLL7GLPRDEOA
Chromosome	13
Chromosome location	13q14.2
Summary	This gene encodes a protein with an N-terminal RCC1 domain and a C-terminal BTB (broad complex, tramtrack and bric-a-brac) domain. In rat, over-expression of this gene in vascular smooth muscle cells induced cellular hypertrophy. In rat, the C-terminus of

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SNP ID	Visualize variation	Clinical significance	Consequence
rs200826424	G>A	Pathogenic, likely-pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, downstream transcript variant, coding sequence variant
rs368217569	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 3 prime UTR variant
rs772592456	C>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant
rs777630688	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs869312819	C>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs879255547	C>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant

272

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miRTarBase ID	miRNA	Experiments	Reference
MIRT029126	hsa-miR-26b-5p	Microarray	19088304
MIRT043750	hsa-miR-328-3p	CLASH	23622248
MIRT054484	hsa-miR-26a-5p	Luciferase reporter assayWestern blotqRT-PCR	23689287
MIRT649962	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT649961	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT649960	hsa-miR-665	HITS-CLIP	23824327
MIRT649959	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT649958	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT649957	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT649956	hsa-miR-5189-3p	HITS-CLIP	23824327
MIRT649955	hsa-miR-6882-3p	HITS-CLIP	23824327
MIRT649954	hsa-miR-5192	HITS-CLIP	23824327
MIRT649953	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT570181	hsa-miR-1285-5p	PAR-CLIP	20371350
MIRT570180	hsa-miR-6793-3p	PAR-CLIP	20371350
MIRT570179	hsa-miR-342-3p	PAR-CLIP	20371350
MIRT570178	hsa-miR-136-5p	PAR-CLIP	20371350
MIRT570177	hsa-miR-452-3p	PAR-CLIP	20371350
MIRT570176	hsa-miR-2355-5p	PAR-CLIP	20371350
MIRT447794	hsa-miR-6831-3p	PAR-CLIP	22100165
MIRT447793	hsa-miR-539-5p	PAR-CLIP	22100165
MIRT447794	hsa-miR-6831-3p	PAR-CLIP	22100165
MIRT447793	hsa-miR-539-5p	PAR-CLIP	22100165
MIRT649962	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT649961	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT649960	hsa-miR-665	HITS-CLIP	23824327
MIRT649959	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT649958	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT649957	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT649956	hsa-miR-5189-3p	HITS-CLIP	23824327
MIRT649955	hsa-miR-6882-3p	HITS-CLIP	23824327
MIRT649954	hsa-miR-5192	HITS-CLIP	23824327
MIRT649953	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT570181	hsa-miR-1285-5p	PAR-CLIP	20371350
MIRT570180	hsa-miR-6793-3p	PAR-CLIP	20371350
MIRT570179	hsa-miR-342-3p	PAR-CLIP	20371350
MIRT570178	hsa-miR-136-5p	PAR-CLIP	20371350
MIRT570177	hsa-miR-452-3p	PAR-CLIP	20371350
MIRT570176	hsa-miR-2355-5p	PAR-CLIP	20371350
MIRT447794	hsa-miR-6831-3p	PAR-CLIP	22100165
MIRT447793	hsa-miR-539-5p	PAR-CLIP	22100165
MIRT447794	hsa-miR-6831-3p	PAR-CLIP	22100165
MIRT447793	hsa-miR-539-5p	PAR-CLIP	22100165
MIRT1297828	hsa-miR-1236	CLIP-seq
MIRT1297829	hsa-miR-1238	CLIP-seq
MIRT1297830	hsa-miR-128	CLIP-seq
MIRT1297831	hsa-miR-1296	CLIP-seq
MIRT1297832	hsa-miR-190	CLIP-seq
MIRT1297833	hsa-miR-190b	CLIP-seq
MIRT1297834	hsa-miR-205	CLIP-seq
MIRT1297835	hsa-miR-2117	CLIP-seq
MIRT1297836	hsa-miR-27a	CLIP-seq
MIRT1297837	hsa-miR-27b	CLIP-seq
MIRT1297838	hsa-miR-2909	CLIP-seq
MIRT1297839	hsa-miR-298	CLIP-seq
MIRT1297840	hsa-miR-3064-3p	CLIP-seq
MIRT1297841	hsa-miR-3158-3p	CLIP-seq
MIRT1297842	hsa-miR-3158-5p	CLIP-seq
MIRT1297843	hsa-miR-335	CLIP-seq
MIRT1297844	hsa-miR-33a	CLIP-seq
MIRT1297845	hsa-miR-33b	CLIP-seq
MIRT1297846	hsa-miR-34b	CLIP-seq
MIRT1297847	hsa-miR-3614-5p	CLIP-seq
MIRT1297848	hsa-miR-3653	CLIP-seq
MIRT1297849	hsa-miR-3658	CLIP-seq
MIRT1297850	hsa-miR-3689a-5p	CLIP-seq
MIRT1297851	hsa-miR-3689b	CLIP-seq
MIRT1297852	hsa-miR-3689e	CLIP-seq
MIRT1297853	hsa-miR-3689f	CLIP-seq
MIRT1297854	hsa-miR-378g	CLIP-seq
MIRT1297855	hsa-miR-412	CLIP-seq
MIRT1297856	hsa-miR-4273	CLIP-seq
MIRT1297857	hsa-miR-4420	CLIP-seq
MIRT1297858	hsa-miR-4446-3p	CLIP-seq
MIRT1297859	hsa-miR-4517	CLIP-seq
MIRT1297860	hsa-miR-4528	CLIP-seq
MIRT1297861	hsa-miR-4705	CLIP-seq
MIRT1297862	hsa-miR-4753-3p	CLIP-seq
MIRT1297863	hsa-miR-4766-5p	CLIP-seq
MIRT1297864	hsa-miR-4789-3p	CLIP-seq
MIRT1297865	hsa-miR-494	CLIP-seq
MIRT1297866	hsa-miR-499-3p	CLIP-seq
MIRT1297867	hsa-miR-499a-3p	CLIP-seq
MIRT1297868	hsa-miR-513a-5p	CLIP-seq
MIRT1297869	hsa-miR-548p	CLIP-seq
MIRT1297870	hsa-miR-944	CLIP-seq
MIRT1297830	hsa-miR-128	CLIP-seq
MIRT1297834	hsa-miR-205	CLIP-seq
MIRT2088496	hsa-miR-218	CLIP-seq
MIRT1297836	hsa-miR-27a	CLIP-seq
MIRT1297837	hsa-miR-27b	CLIP-seq
MIRT2088497	hsa-miR-31	CLIP-seq
MIRT2088498	hsa-miR-3682-3p	CLIP-seq
MIRT2088499	hsa-miR-4476	CLIP-seq
MIRT1297868	hsa-miR-513a-5p	CLIP-seq
MIRT2088500	hsa-miR-645	CLIP-seq
MIRT2088501	hsa-miR-651	CLIP-seq
MIRT1297870	hsa-miR-944	CLIP-seq
MIRT2313475	hsa-miR-124	CLIP-seq
MIRT1297830	hsa-miR-128	CLIP-seq
MIRT1297831	hsa-miR-1296	CLIP-seq
MIRT2313476	hsa-miR-145	CLIP-seq
MIRT1297834	hsa-miR-205	CLIP-seq
MIRT2313477	hsa-miR-2278	CLIP-seq
MIRT1297836	hsa-miR-27a	CLIP-seq
MIRT1297837	hsa-miR-27b	CLIP-seq
MIRT1297838	hsa-miR-2909	CLIP-seq
MIRT1297840	hsa-miR-3064-3p	CLIP-seq
MIRT1297841	hsa-miR-3158-3p	CLIP-seq
MIRT1297848	hsa-miR-3653	CLIP-seq
MIRT1297849	hsa-miR-3658	CLIP-seq
MIRT2313478	hsa-miR-3714	CLIP-seq
MIRT2313479	hsa-miR-3910	CLIP-seq
MIRT2313480	hsa-miR-4310	CLIP-seq
MIRT1297857	hsa-miR-4420	CLIP-seq
MIRT1297858	hsa-miR-4446-3p	CLIP-seq
MIRT1297859	hsa-miR-4517	CLIP-seq
MIRT2313481	hsa-miR-4666-5p	CLIP-seq
MIRT2313482	hsa-miR-4690-3p	CLIP-seq
MIRT2313483	hsa-miR-4712-5p	CLIP-seq
MIRT2313484	hsa-miR-4726-3p	CLIP-seq
MIRT2313485	hsa-miR-4732-5p	CLIP-seq
MIRT1297864	hsa-miR-4789-3p	CLIP-seq
MIRT2313486	hsa-miR-485-3p	CLIP-seq
MIRT2313487	hsa-miR-506	CLIP-seq
MIRT2313488	hsa-miR-5096	CLIP-seq
MIRT1297868	hsa-miR-513a-5p	CLIP-seq
MIRT2313489	hsa-miR-664	CLIP-seq
MIRT2313490	hsa-miR-770-5p	CLIP-seq
MIRT1297870	hsa-miR-944	CLIP-seq
MIRT2313475	hsa-miR-124	CLIP-seq
MIRT1297830	hsa-miR-128	CLIP-seq
MIRT1297836	hsa-miR-27a	CLIP-seq
MIRT1297837	hsa-miR-27b	CLIP-seq
MIRT2393590	hsa-miR-3185	CLIP-seq
MIRT2313478	hsa-miR-3714	CLIP-seq
MIRT2313479	hsa-miR-3910	CLIP-seq
MIRT2393591	hsa-miR-409-3p	CLIP-seq
MIRT2313487	hsa-miR-506	CLIP-seq
MIRT1297868	hsa-miR-513a-5p	CLIP-seq
MIRT2457978	hsa-miR-3148	CLIP-seq
MIRT2457979	hsa-miR-3190	CLIP-seq
MIRT2457980	hsa-miR-3657	CLIP-seq
MIRT2457981	hsa-miR-4491	CLIP-seq
MIRT2457982	hsa-miR-4657	CLIP-seq
MIRT2457983	hsa-miR-4669	CLIP-seq
MIRT2457984	hsa-miR-576-3p	CLIP-seq
MIRT2457985	hsa-miR-892a	CLIP-seq
MIRT2610087	hsa-miR-103b	CLIP-seq
MIRT2313475	hsa-miR-124	CLIP-seq
MIRT2610088	hsa-miR-1246	CLIP-seq
MIRT2610089	hsa-miR-1253	CLIP-seq
MIRT2610090	hsa-miR-1272	CLIP-seq
MIRT2610091	hsa-miR-127-5p	CLIP-seq
MIRT1297830	hsa-miR-128	CLIP-seq
MIRT2610092	hsa-miR-1305	CLIP-seq
MIRT1297834	hsa-miR-205	CLIP-seq
MIRT2610093	hsa-miR-224	CLIP-seq
MIRT2610094	hsa-miR-2681	CLIP-seq
MIRT1297836	hsa-miR-27a	CLIP-seq
MIRT1297837	hsa-miR-27b	CLIP-seq
MIRT1297840	hsa-miR-3064-3p	CLIP-seq
MIRT2610095	hsa-miR-3140-3p	CLIP-seq
MIRT2610096	hsa-miR-3168	CLIP-seq
MIRT2610097	hsa-miR-3201	CLIP-seq
MIRT2610098	hsa-miR-3545-5p	CLIP-seq
MIRT2610099	hsa-miR-3591-3p	CLIP-seq
MIRT2610100	hsa-miR-3613-5p	CLIP-seq
MIRT2610101	hsa-miR-3671	CLIP-seq
MIRT2610102	hsa-miR-3674	CLIP-seq
MIRT2610103	hsa-miR-3675-5p	CLIP-seq
MIRT2313478	hsa-miR-3714	CLIP-seq
MIRT2610104	hsa-miR-3907	CLIP-seq
MIRT2313479	hsa-miR-3910	CLIP-seq
MIRT2610105	hsa-miR-3914	CLIP-seq
MIRT2313480	hsa-miR-4310	CLIP-seq
MIRT1297857	hsa-miR-4420	CLIP-seq
MIRT1297859	hsa-miR-4517	CLIP-seq
MIRT2610106	hsa-miR-4643	CLIP-seq
MIRT2610107	hsa-miR-4661-3p	CLIP-seq
MIRT2610108	hsa-miR-4712-3p	CLIP-seq
MIRT2610109	hsa-miR-4719	CLIP-seq
MIRT2313484	hsa-miR-4726-3p	CLIP-seq
MIRT2610110	hsa-miR-4733-5p	CLIP-seq
MIRT2610111	hsa-miR-4738-3p	CLIP-seq
MIRT2610112	hsa-miR-4757-5p	CLIP-seq
MIRT2610113	hsa-miR-4760-3p	CLIP-seq
MIRT2610114	hsa-miR-4761-5p	CLIP-seq
MIRT2610115	hsa-miR-4762-3p	CLIP-seq
MIRT2610116	hsa-miR-4775	CLIP-seq
MIRT1297864	hsa-miR-4789-3p	CLIP-seq
MIRT2610117	hsa-miR-4791	CLIP-seq
MIRT2610118	hsa-miR-4795-5p	CLIP-seq
MIRT2313486	hsa-miR-485-3p	CLIP-seq
MIRT1297865	hsa-miR-494	CLIP-seq
MIRT2610119	hsa-miR-498	CLIP-seq
MIRT2313487	hsa-miR-506	CLIP-seq
MIRT2610120	hsa-miR-511	CLIP-seq
MIRT1297868	hsa-miR-513a-5p	CLIP-seq
MIRT2610121	hsa-miR-520d-5p	CLIP-seq
MIRT2610122	hsa-miR-524-5p	CLIP-seq
MIRT2610123	hsa-miR-587	CLIP-seq
MIRT2610124	hsa-miR-590-3p	CLIP-seq
MIRT2610125	hsa-miR-600	CLIP-seq
MIRT2610126	hsa-miR-606	CLIP-seq
MIRT2610127	hsa-miR-607	CLIP-seq
MIRT2610128	hsa-miR-628-3p	CLIP-seq
MIRT2610129	hsa-miR-633	CLIP-seq
MIRT2610130	hsa-miR-653	CLIP-seq
MIRT2610131	hsa-miR-656	CLIP-seq
MIRT2313489	hsa-miR-664	CLIP-seq
MIRT2610132	hsa-miR-873	CLIP-seq
MIRT1297870	hsa-miR-944	CLIP-seq
MIRT2610087	hsa-miR-103b	CLIP-seq
MIRT2313475	hsa-miR-124	CLIP-seq
MIRT2610088	hsa-miR-1246	CLIP-seq
MIRT2610089	hsa-miR-1253	CLIP-seq
MIRT2610090	hsa-miR-1272	CLIP-seq
MIRT2610091	hsa-miR-127-5p	CLIP-seq
MIRT1297830	hsa-miR-128	CLIP-seq
MIRT1297834	hsa-miR-205	CLIP-seq
MIRT2610093	hsa-miR-224	CLIP-seq
MIRT2610094	hsa-miR-2681	CLIP-seq
MIRT1297836	hsa-miR-27a	CLIP-seq
MIRT1297837	hsa-miR-27b	CLIP-seq
MIRT1297840	hsa-miR-3064-3p	CLIP-seq
MIRT2610096	hsa-miR-3168	CLIP-seq
MIRT2610097	hsa-miR-3201	CLIP-seq
MIRT2610098	hsa-miR-3545-5p	CLIP-seq
MIRT2610099	hsa-miR-3591-3p	CLIP-seq
MIRT2610100	hsa-miR-3613-5p	CLIP-seq
MIRT2610101	hsa-miR-3671	CLIP-seq
MIRT2610102	hsa-miR-3674	CLIP-seq
MIRT2610103	hsa-miR-3675-5p	CLIP-seq
MIRT2313478	hsa-miR-3714	CLIP-seq
MIRT1297854	hsa-miR-378g	CLIP-seq
MIRT2313479	hsa-miR-3910	CLIP-seq
MIRT2610105	hsa-miR-3914	CLIP-seq
MIRT2313480	hsa-miR-4310	CLIP-seq
MIRT1297857	hsa-miR-4420	CLIP-seq
MIRT1297859	hsa-miR-4517	CLIP-seq
MIRT2610106	hsa-miR-4643	CLIP-seq
MIRT2610107	hsa-miR-4661-3p	CLIP-seq
MIRT2610108	hsa-miR-4712-3p	CLIP-seq
MIRT2610109	hsa-miR-4719	CLIP-seq
MIRT2313484	hsa-miR-4726-3p	CLIP-seq
MIRT2610110	hsa-miR-4733-5p	CLIP-seq
MIRT2610111	hsa-miR-4738-3p	CLIP-seq
MIRT2610112	hsa-miR-4757-5p	CLIP-seq
MIRT2610113	hsa-miR-4760-3p	CLIP-seq
MIRT2610115	hsa-miR-4762-3p	CLIP-seq
MIRT1297864	hsa-miR-4789-3p	CLIP-seq
MIRT2610117	hsa-miR-4791	CLIP-seq
MIRT2610118	hsa-miR-4795-5p	CLIP-seq
MIRT2313486	hsa-miR-485-3p	CLIP-seq
MIRT1297865	hsa-miR-494	CLIP-seq
MIRT2313487	hsa-miR-506	CLIP-seq
MIRT2610120	hsa-miR-511	CLIP-seq
MIRT1297868	hsa-miR-513a-5p	CLIP-seq
MIRT2610121	hsa-miR-520d-5p	CLIP-seq
MIRT2610122	hsa-miR-524-5p	CLIP-seq
MIRT2610123	hsa-miR-587	CLIP-seq
MIRT2610125	hsa-miR-600	CLIP-seq
MIRT2610126	hsa-miR-606	CLIP-seq
MIRT2610127	hsa-miR-607	CLIP-seq
MIRT2610128	hsa-miR-628-3p	CLIP-seq
MIRT2610129	hsa-miR-633	CLIP-seq
MIRT2610130	hsa-miR-653	CLIP-seq
MIRT2610131	hsa-miR-656	CLIP-seq
MIRT2313489	hsa-miR-664	CLIP-seq
MIRT2610132	hsa-miR-873	CLIP-seq
MIRT1297870	hsa-miR-944	CLIP-seq

Show/Hide all (5)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	28514442, 32814053, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA
GO:0006325	Process	Chromatin organization	IEA

MIM	HGNC	e!Ensembl
607867	18243	ENSG00000136144

Q8NDN9

Protein name

RCC1 and BTB domain-containing protein 1 (Chronic lymphocytic leukemia deletion region gene 7 protein) (CLL deletion region gene 7 protein) (Regulator of chromosome condensation and BTB domain-containing protein 1)

Protein function

May be involved in cell cycle regulation by chromatin remodeling.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00415	RCC1	40 → 88	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	93 → 143	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	146 → 196	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	199 → 248	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00415	RCC1	251 → 300	Regulator of chromosome condensation (RCC1) repeat	Repeat
PF00651	BTB	360 → 467	BTB/POZ domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed (PubMed:11306461, PubMed:27486781). In the retina, present in the nerve fiber layer and to a lesser extent in the inner and outer plexiform layers (at protein level) (PubMed:27486781). {ECO:0000269|PubMed:1130646

Sequence

MVDVGKWPIFTLLSPQEIASIRKACVFGTSASEALYVTDNDEVFVFGLNYSNCLGTGDNQ
STLVPKKLEGLCGKKIKSLSYGSGPHVLLSTEDGVVYAWGHNGYSQLGNGTTNQGIAPVQ
VCTNLLIKQVVEVACGSHHSMALAADGEVFAWGYNNCGQVGSGSTANQPTPRKVTNCLHI
KRVVGIACGQTSSMAVLDNGEVYGWGYNGNGQLGLGNNGNQLTPVRVAALHSVCVNQIVC
GYAHTLALTDEGLLYAWGANTYGQLGTGNKNNLLSPAHIMVEKERVVEIAACHSAHTSAA
KTQGGHVYMWGQCRGQSVILPHLTHFSCTDDVFACFATPAVSWRLLSVEHEDFLTVAESL
KKEFDSPETADLKFRIDGKYIHVHKAVLKIRCEHFRSMFQSYWNEDMKEVIEIDQFSYPV
YRAFLQYLYTDTVDLPPEDAIGLLDLATSYCENRLKKLCQHIIKRGITVENAFSLFSAAV
RYDAEDLEEFCFKFCINHLTEVTQTAAFWQMDGPLLKEFIAKASKCGAFKN

Sequence length

531

Interactions

View interactions

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 (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Coats disease	Likely pathogenic; Pathogenic	rs869312819, rs777630688	RCV000210240 RCV000210228	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs368217569	RCV005891081	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial exudative vitreoretinopathy	Likely pathogenic	rs869312819	RCV000210240	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RCBTB1-related disorder	Likely pathogenic	rs200826424	RCV004757981	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RCBTB1-related retinopathy	Likely pathogenic; Pathogenic	rs777630688, rs879255547, rs200826424, rs368217569, rs767690421	RCV002250599 RCV000258092 RCV005863073 RCV000258120 RCV005235507	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES	Likely pathogenic	rs200826424	RCV000258084	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs879255547, rs200826424, rs368217569	RCV000239603 RCV000239605 RCV000239609	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (10)

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.
ATOPIC ECZEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXUDATIVE RETINOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXUDATIVE VITREORETINOPATHY	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (96)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	28102093, 29463450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	28105738, 28249585		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	31804189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	30465895		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	BEFREE	27908915, 28811293, 29949410		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	31270216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	19672052	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	31270216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	35057699	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	30954559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	31680842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29259012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	26952936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28407414, 29272081, 29702499, 29886514, 29944969, 30545359, 30607467, 30700910, 31108136, 31254356, 31373167, 31551292, 31673896, 31825468		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28407414, 29411931, 30653708, 30957945, 31175007, 31373167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	31379119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholecystitis	Cholecystitis	BEFREE	30137354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	30477733		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	31318152		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	LHGDN	14565662		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	20926398, 29855824		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	30703547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	27653447, 28431666, 29421011, 29437648, 30653708, 31175007, 31373167, 31408637		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30271789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30271789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30271789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28065744, 28260235, 28290604, 28721686, 28748377, 28942790, 28969637, 29167470, 29247356, 29449951, 30187176, 30520247, 30730773, 30788807, 31209982 View all (8 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28065744, 28260235, 28290604, 28721686, 28748377, 28942790, 28969637, 29167470, 29247356, 29449951, 30187176, 30520247, 30730773, 30772113, 30788807 View all (9 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	27868372, 28211611, 28616805, 30041175, 30536789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27629433, 27717126, 27717222, 27981757, 28078541, 28102093, 28105738, 28133970, 28150516, 28155131, 28181725, 28188972, 28230449, 28233273, 28236271 View all (85 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	31373167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Polyneuropathies	Diabetic polyneuropathy	BEFREE	30918901		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	28807775, 29104476, 29369494, 31589290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	29217412, 29345505		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exudative retinopathy	Exudative retinopathy	BEFREE	26908610		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exudative retinopathy	Exudative retinopathy	GENOMICS_ENGLAND_DG	27486781		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exudative retinopathy	Exudative retinopathy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Exudative Vitreoretinopathy	Exudative Vitreoretinopathy	BEFREE	26908610		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial Exudative Vitreoretinopathy	Exudative Vitreoretinopathy	GENOMICS_ENGLAND_DG	27486781		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial Exudative Vitreoretinopathy	Exudative Vitreoretinopathy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fatty Liver Disease	Fatty Liver	BEFREE	28065744		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	31642583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroparesis	Gastroparesis	BEFREE	28118069		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	27653447, 28431666, 29421011, 29437648, 30653708, 31175007, 31373167, 31408637		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	27629433, 28118069, 31318152, 31401268, 31551292		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	31401268		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31589290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	27868372, 27981757, 28102093, 28150516, 28249585, 28526416, 28589542, 28721686, 28942790, 29205774, 29272081, 29334278, 29511288, 30148851, 30383495 View all (6 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30465895, 30703547		★★★★★ ★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	29877881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	27486781	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
INTERSTITIAL NEPHRITIS, KARYOMEGALIC	Interstitial Nephritis	BEFREE	30277423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	28748377, 28924916		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	30477733		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kleefstra syndrome	Kleefstra Syndrome	BEFREE	28361100, 29459631		★★★★★ ★☆☆☆☆ Found in Text Mining only
KLEEFSTRA SYNDROME 1	Kleefstra Syndrome	BEFREE	28361100, 29459631		★★★★★ ★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	30641971		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	26147105		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28301528		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29259012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	28249585, 30306620, 31420784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29259012, 31420784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	37408192	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28249585, 30957945		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20926398, 26147105, 29877881, 30277423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28065744, 28431668, 28918389, 30459715, 30861258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	27717222, 28722834, 28822994, 30459715, 31595657, 31790314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	28855317		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	20926398		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	20926398	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	29259012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28249585, 30306620, 31420784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic Diseases	BEFREE	29335890		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	31420784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	28526416, 31077072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28991675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	29335890		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	30565836		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Reticular Dystrophy Of Retinal Pigment Epithelium	Reticular Dystrophy Of Retinal Pigment Epithelium	ORPHANET_DG	27486781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Reticular dystrophy of the retinal pigment epithelium	Reticular Dystrophy Of Retinal Pigment Epithelium	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	28748377, 28924916, 29449951		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	31494449, 34617687, 37408192	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES	RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES	Retinal Dystrophy With Or Without Extraocular Anomalies	GENOMICS_ENGLAND_DG	27486781		★★★★★ ★☆☆☆☆ Found in Text Mining only
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES	Retinal Dystrophy With Or Without Extraocular Anomalies	UNIPROT_DG	27486781		★★★★★ ★☆☆☆☆ Found in Text Mining only
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES	Retinal Dystrophy With Or Without Extraocular Anomalies	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES	Retinal Dystrophy With Or Without Extraocular Anomalies	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG	27486781		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	27486781	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schizophrenia	Schizophrenia	BEFREE	23815974, 28260235, 30187620		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	23815974		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Steatohepatitis	Fatty Liver	BEFREE	28065744		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sveinsson Chorioretinal Atrophy	Sveinsson chorioretinal atrophy	Pubtator	35057699	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	29459631		★★★★★ ★☆☆☆☆ Found in Text Mining only

RCBTB1 (RCC1 and BTB domain containing protein 1)