RCBTB1 (RCC1 and BTB domain containing protein 1)

Gene

• Entrez ID: 55213
• Gene name: RCC1 and BTB domain containing protein 1
• Gene symbol: RCBTB1
• Synonyms (NCBI Gene): CLLD7, CLLL7, GLP, RDEOA
• 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

SNPs

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

miRNA

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 assay, Western blot, qRT-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

Gene ontology (GO)

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

Other IDs

• MIM: 607867
• HGNC: 18243
• e!Ensembl: ENSG00000136144

Protein

• UniProt ID: 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

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ 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

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Asthma	Associate	19672052	★☆☆☆☆ Found in Text Mining only
Atrophy	Associate	35057699	★☆☆☆☆ Found in Text Mining only
Familial Exudative Vitreoretinopathies	Associate	35876299, 37089697	★☆☆☆☆ Found in Text Mining only
Goiter	Associate	27486781	★☆☆☆☆ Found in Text Mining only
Hypertensive Retinopathy	Associate	34617687, 37408192	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Associate	27486781	★☆☆☆☆ Found in Text Mining only
Leukemia Lymphocytic Chronic B Cell	Associate	12010815	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Associate	37408192	★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	20926398	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	36099812	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Associate	20926398	★☆☆☆☆ Found in Text Mining only
Primary Ovarian Insufficiency	Associate	27486781, 36099812	★☆☆☆☆ Found in Text Mining only
Reticular dysgenesis	Associate	35057699	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Associate	31494449, 34617687, 37408192	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Associate	27486781, 31494449, 34617687, 35057699	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Associate	27486781	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sveinsson Chorioretinal Atrophy	Associate	35057699	★☆☆☆☆ Found in Text Mining only
Syndrome	Associate	27486781	★☆☆☆☆ Found in Text Mining only