OVOL1 (ovo like transcriptional repressor 1)

Gene

• Entrez ID: 5017
• Gene name: Ovo like transcriptional repressor 1
• Gene symbol: OVOL1
• Synonyms (NCBI Gene): HOVO1
• Chromosome: 11
• Chromosome location: 11q13.1
• Summary: This gene encodes a putative zinc finger containing transcription factor that is highly similar to homologous protein in Drosophila and mouse. Based on known functions in these species, this protein is likely involved in hair formation and spermatogenesis

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT026823	hsa-miR-192-5p	Microarray	19074876
MIRT723188	hsa-miR-8485	HITS-CLIP	19536157
MIRT723187	hsa-miR-4519	HITS-CLIP	19536157
MIRT723186	hsa-miR-148a-3p	HITS-CLIP	19536157
MIRT723185	hsa-miR-148b-3p	HITS-CLIP	19536157
MIRT723184	hsa-miR-152-3p	HITS-CLIP	19536157
MIRT723183	hsa-miR-8064	HITS-CLIP	19536157
MIRT501735	hsa-miR-190a-5p	PAR-CLIP	24398324
MIRT501734	hsa-miR-190b	PAR-CLIP	24398324
MIRT501733	hsa-miR-1252-3p	PAR-CLIP	24398324
MIRT501731	hsa-miR-5680	PAR-CLIP	24398324
MIRT501732	hsa-miR-4491	PAR-CLIP	24398324
MIRT501730	hsa-miR-4657	PAR-CLIP	24398324
MIRT501729	hsa-miR-299-3p	PAR-CLIP	24398324
MIRT501728	hsa-miR-7854-3p	PAR-CLIP	24398324
MIRT501727	hsa-miR-6134	PAR-CLIP	24398324
MIRT501726	hsa-miR-516a-3p	PAR-CLIP	24398324
MIRT501725	hsa-miR-516b-3p	PAR-CLIP	24398324
MIRT501724	hsa-miR-7162-5p	PAR-CLIP	24398324
MIRT501723	hsa-miR-3689a-5p	PAR-CLIP	24398324
MIRT501722	hsa-miR-3689b-5p	PAR-CLIP	24398324
MIRT501721	hsa-miR-3689e	PAR-CLIP	24398324
MIRT501720	hsa-miR-3689f	PAR-CLIP	24398324
MIRT501719	hsa-miR-3190-3p	PAR-CLIP	24398324
MIRT501718	hsa-miR-3978	PAR-CLIP	24398324
MIRT501717	hsa-miR-6833-5p	PAR-CLIP	24398324
MIRT723188	hsa-miR-8485	HITS-CLIP	19536157
MIRT723187	hsa-miR-4519	HITS-CLIP	19536157
MIRT723186	hsa-miR-148a-3p	HITS-CLIP	19536157
MIRT723185	hsa-miR-148b-3p	HITS-CLIP	19536157
MIRT723184	hsa-miR-152-3p	HITS-CLIP	19536157
MIRT723183	hsa-miR-8064	HITS-CLIP	19536157
MIRT501735	hsa-miR-190a-5p	PAR-CLIP	24398324
MIRT501734	hsa-miR-190b	PAR-CLIP	24398324
MIRT501733	hsa-miR-1252-3p	PAR-CLIP	24398324
MIRT501731	hsa-miR-5680	PAR-CLIP	24398324
MIRT501732	hsa-miR-4491	PAR-CLIP	24398324
MIRT501730	hsa-miR-4657	PAR-CLIP	24398324
MIRT501729	hsa-miR-299-3p	PAR-CLIP	24398324
MIRT501728	hsa-miR-7854-3p	PAR-CLIP	24398324
MIRT501727	hsa-miR-6134	PAR-CLIP	24398324
MIRT501726	hsa-miR-516a-3p	PAR-CLIP	24398324
MIRT501725	hsa-miR-516b-3p	PAR-CLIP	24398324
MIRT501724	hsa-miR-7162-5p	PAR-CLIP	24398324
MIRT501723	hsa-miR-3689a-5p	PAR-CLIP	24398324
MIRT501722	hsa-miR-3689b-5p	PAR-CLIP	24398324
MIRT501721	hsa-miR-3689e	PAR-CLIP	24398324
MIRT501720	hsa-miR-3689f	PAR-CLIP	24398324
MIRT501719	hsa-miR-3190-3p	PAR-CLIP	24398324
MIRT501718	hsa-miR-3978	PAR-CLIP	24398324
MIRT501717	hsa-miR-6833-5p	PAR-CLIP	24398324
MIRT1208316	hsa-miR-128	CLIP-seq
MIRT1208317	hsa-miR-1284	CLIP-seq
MIRT1208318	hsa-miR-1299	CLIP-seq
MIRT1208319	hsa-miR-138	CLIP-seq
MIRT1208320	hsa-miR-148a	CLIP-seq
MIRT1208321	hsa-miR-148b	CLIP-seq
MIRT1208322	hsa-miR-152	CLIP-seq
MIRT1208323	hsa-miR-154	CLIP-seq
MIRT1208324	hsa-miR-190	CLIP-seq
MIRT1208325	hsa-miR-1915	CLIP-seq
MIRT1208326	hsa-miR-198	CLIP-seq
MIRT1208327	hsa-miR-24	CLIP-seq
MIRT1208328	hsa-miR-2467-3p	CLIP-seq
MIRT1208329	hsa-miR-2861	CLIP-seq
MIRT1208330	hsa-miR-3065-3p	CLIP-seq
MIRT1208331	hsa-miR-30a	CLIP-seq
MIRT1208332	hsa-miR-30b	CLIP-seq
MIRT1208333	hsa-miR-30c	CLIP-seq
MIRT1208334	hsa-miR-30d	CLIP-seq
MIRT1208335	hsa-miR-30e	CLIP-seq
MIRT1208336	hsa-miR-3120-3p	CLIP-seq
MIRT1208337	hsa-miR-3121-3p	CLIP-seq
MIRT1208338	hsa-miR-3125	CLIP-seq
MIRT1208339	hsa-miR-3133	CLIP-seq
MIRT1208340	hsa-miR-3155	CLIP-seq
MIRT1208341	hsa-miR-3155b	CLIP-seq
MIRT1208342	hsa-miR-3156-3p	CLIP-seq
MIRT1208343	hsa-miR-3156-5p	CLIP-seq
MIRT1208344	hsa-miR-3163	CLIP-seq
MIRT1208345	hsa-miR-3190	CLIP-seq
MIRT1208346	hsa-miR-3194-5p	CLIP-seq
MIRT1208347	hsa-miR-340	CLIP-seq
MIRT1208348	hsa-miR-3616-3p	CLIP-seq
MIRT1208349	hsa-miR-3662	CLIP-seq
MIRT1208350	hsa-miR-3663-3p	CLIP-seq
MIRT1208351	hsa-miR-3675-3p	CLIP-seq
MIRT1208352	hsa-miR-3677-5p	CLIP-seq
MIRT1208353	hsa-miR-3689b	CLIP-seq
MIRT1208354	hsa-miR-3916	CLIP-seq
MIRT1208355	hsa-miR-3942-3p	CLIP-seq
MIRT1208356	hsa-miR-4257	CLIP-seq
MIRT1208357	hsa-miR-4267	CLIP-seq
MIRT1208358	hsa-miR-4269	CLIP-seq
MIRT1208359	hsa-miR-4301	CLIP-seq
MIRT1208360	hsa-miR-4303	CLIP-seq
MIRT1208361	hsa-miR-4317	CLIP-seq
MIRT1208362	hsa-miR-433	CLIP-seq
MIRT1208363	hsa-miR-4421	CLIP-seq
MIRT1208364	hsa-miR-4434	CLIP-seq
MIRT1208365	hsa-miR-4436b-3p	CLIP-seq
MIRT1208366	hsa-miR-4468	CLIP-seq
MIRT1208367	hsa-miR-4469	CLIP-seq
MIRT1208368	hsa-miR-4476	CLIP-seq
MIRT1208369	hsa-miR-4495	CLIP-seq
MIRT1208370	hsa-miR-4509	CLIP-seq
MIRT1208371	hsa-miR-4516	CLIP-seq
MIRT1208372	hsa-miR-4531	CLIP-seq
MIRT1208373	hsa-miR-4533	CLIP-seq
MIRT1208374	hsa-miR-455-3p	CLIP-seq
MIRT1208375	hsa-miR-4643	CLIP-seq
MIRT1208376	hsa-miR-4645-5p	CLIP-seq
MIRT1208377	hsa-miR-4649-3p	CLIP-seq
MIRT1208378	hsa-miR-466	CLIP-seq
MIRT1208379	hsa-miR-4673	CLIP-seq
MIRT1208380	hsa-miR-4681	CLIP-seq
MIRT1208381	hsa-miR-4687-3p	CLIP-seq
MIRT1208382	hsa-miR-4726-3p	CLIP-seq
MIRT1208383	hsa-miR-4731-5p	CLIP-seq
MIRT1208384	hsa-miR-4735-5p	CLIP-seq
MIRT1208385	hsa-miR-4744	CLIP-seq
MIRT1208386	hsa-miR-4755-3p	CLIP-seq
MIRT1208387	hsa-miR-4762-3p	CLIP-seq
MIRT1208388	hsa-miR-4765	CLIP-seq
MIRT1208389	hsa-miR-4775	CLIP-seq
MIRT1208390	hsa-miR-4778-5p	CLIP-seq
MIRT1208391	hsa-miR-4789-3p	CLIP-seq
MIRT1208392	hsa-miR-4789-5p	CLIP-seq
MIRT1208393	hsa-miR-484	CLIP-seq
MIRT1208394	hsa-miR-489	CLIP-seq
MIRT1208395	hsa-miR-503	CLIP-seq
MIRT1208396	hsa-miR-515-3p	CLIP-seq
MIRT1208397	hsa-miR-519e	CLIP-seq
MIRT1208398	hsa-miR-520d-5p	CLIP-seq
MIRT1208399	hsa-miR-524-5p	CLIP-seq
MIRT1208400	hsa-miR-550a	CLIP-seq
MIRT1208401	hsa-miR-590-3p	CLIP-seq
MIRT1208402	hsa-miR-593	CLIP-seq
MIRT1208403	hsa-miR-616	CLIP-seq
MIRT1208404	hsa-miR-626	CLIP-seq
MIRT1208405	hsa-miR-633	CLIP-seq
MIRT1208406	hsa-miR-642a	CLIP-seq
MIRT1208407	hsa-miR-665	CLIP-seq
MIRT1208408	hsa-miR-875-3p	CLIP-seq
MIRT2059840	hsa-miR-1202	CLIP-seq
MIRT2059841	hsa-miR-1228	CLIP-seq
MIRT2059842	hsa-miR-1266	CLIP-seq
MIRT2059843	hsa-miR-1271	CLIP-seq
MIRT2059844	hsa-miR-1285	CLIP-seq
MIRT1208320	hsa-miR-148a	CLIP-seq
MIRT1208321	hsa-miR-148b	CLIP-seq
MIRT1208322	hsa-miR-152	CLIP-seq
MIRT2059845	hsa-miR-188-5p	CLIP-seq
MIRT1208324	hsa-miR-190	CLIP-seq
MIRT2059846	hsa-miR-1914	CLIP-seq
MIRT2059847	hsa-miR-210	CLIP-seq
MIRT1208330	hsa-miR-3065-3p	CLIP-seq
MIRT1208336	hsa-miR-3120-3p	CLIP-seq
MIRT2059848	hsa-miR-3132	CLIP-seq
MIRT1208339	hsa-miR-3133	CLIP-seq
MIRT2059849	hsa-miR-3136-3p	CLIP-seq
MIRT1208343	hsa-miR-3156-5p	CLIP-seq
MIRT2059850	hsa-miR-3173-5p	CLIP-seq
MIRT2059851	hsa-miR-3187-5p	CLIP-seq
MIRT1208345	hsa-miR-3190	CLIP-seq
MIRT1208346	hsa-miR-3194-5p	CLIP-seq
MIRT2059852	hsa-miR-326	CLIP-seq
MIRT2059853	hsa-miR-328	CLIP-seq
MIRT2059854	hsa-miR-330-5p	CLIP-seq
MIRT2059855	hsa-miR-3664-3p	CLIP-seq
MIRT2059856	hsa-miR-3667-3p	CLIP-seq
MIRT1208352	hsa-miR-3677-5p	CLIP-seq
MIRT1208353	hsa-miR-3689b	CLIP-seq
MIRT2059857	hsa-miR-370	CLIP-seq
MIRT2059858	hsa-miR-3972	CLIP-seq
MIRT2059859	hsa-miR-4265	CLIP-seq
MIRT1208357	hsa-miR-4267	CLIP-seq
MIRT2059860	hsa-miR-4296	CLIP-seq
MIRT2059861	hsa-miR-4322	CLIP-seq
MIRT2059862	hsa-miR-4417	CLIP-seq
MIRT1208363	hsa-miR-4421	CLIP-seq
MIRT1208368	hsa-miR-4476	CLIP-seq
MIRT2059863	hsa-miR-4505	CLIP-seq
MIRT1208370	hsa-miR-4509	CLIP-seq
MIRT2059864	hsa-miR-4518	CLIP-seq
MIRT1208376	hsa-miR-4645-5p	CLIP-seq
MIRT1208379	hsa-miR-4673	CLIP-seq
MIRT1208381	hsa-miR-4687-3p	CLIP-seq
MIRT2059865	hsa-miR-4703-3p	CLIP-seq
MIRT2059866	hsa-miR-4731-3p	CLIP-seq
MIRT1208385	hsa-miR-4744	CLIP-seq
MIRT2059867	hsa-miR-4753-3p	CLIP-seq
MIRT1208386	hsa-miR-4755-3p	CLIP-seq
MIRT2059868	hsa-miR-4801	CLIP-seq
MIRT2059869	hsa-miR-486-3p	CLIP-seq
MIRT1208394	hsa-miR-489	CLIP-seq
MIRT2059870	hsa-miR-494	CLIP-seq
MIRT1208395	hsa-miR-503	CLIP-seq
MIRT1208396	hsa-miR-515-3p	CLIP-seq
MIRT1208397	hsa-miR-519e	CLIP-seq
MIRT1208398	hsa-miR-520d-5p	CLIP-seq
MIRT1208399	hsa-miR-524-5p	CLIP-seq
MIRT1208400	hsa-miR-550a	CLIP-seq
MIRT1208402	hsa-miR-593	CLIP-seq
MIRT2059871	hsa-miR-612	CLIP-seq
MIRT1208404	hsa-miR-626	CLIP-seq
MIRT2059872	hsa-miR-942	CLIP-seq
MIRT2059873	hsa-miR-96	CLIP-seq
MIRT2288173	hsa-miR-1184	CLIP-seq
MIRT2288174	hsa-miR-1207-3p	CLIP-seq
MIRT2288175	hsa-miR-1248	CLIP-seq
MIRT2059843	hsa-miR-1271	CLIP-seq
MIRT2059844	hsa-miR-1285	CLIP-seq
MIRT2288176	hsa-miR-134	CLIP-seq
MIRT1208319	hsa-miR-138	CLIP-seq
MIRT2288177	hsa-miR-146b-3p	CLIP-seq
MIRT1208320	hsa-miR-148a	CLIP-seq
MIRT1208321	hsa-miR-148b	CLIP-seq
MIRT1208322	hsa-miR-152	CLIP-seq
MIRT1208324	hsa-miR-190	CLIP-seq
MIRT2059846	hsa-miR-1914	CLIP-seq
MIRT1208325	hsa-miR-1915	CLIP-seq
MIRT2288178	hsa-miR-2115	CLIP-seq
MIRT1208331	hsa-miR-30a	CLIP-seq
MIRT1208332	hsa-miR-30b	CLIP-seq
MIRT1208333	hsa-miR-30c	CLIP-seq
MIRT1208334	hsa-miR-30d	CLIP-seq
MIRT1208335	hsa-miR-30e	CLIP-seq
MIRT2288179	hsa-miR-3118	CLIP-seq
MIRT1208336	hsa-miR-3120-3p	CLIP-seq
MIRT2288180	hsa-miR-3143	CLIP-seq
MIRT2288181	hsa-miR-3144-5p	CLIP-seq
MIRT2288182	hsa-miR-3164	CLIP-seq
MIRT2059850	hsa-miR-3173-5p	CLIP-seq
MIRT2288183	hsa-miR-3180-5p	CLIP-seq
MIRT2059851	hsa-miR-3187-5p	CLIP-seq
MIRT2288184	hsa-miR-3191	CLIP-seq
MIRT2288185	hsa-miR-3192	CLIP-seq
MIRT2288186	hsa-miR-323-3p	CLIP-seq
MIRT2288187	hsa-miR-34a	CLIP-seq
MIRT2288188	hsa-miR-34c-5p	CLIP-seq
MIRT2288189	hsa-miR-3612	CLIP-seq
MIRT2288190	hsa-miR-3649	CLIP-seq
MIRT2288191	hsa-miR-3689a-3p	CLIP-seq
MIRT1208353	hsa-miR-3689b	CLIP-seq
MIRT2288192	hsa-miR-3689c	CLIP-seq
MIRT1208355	hsa-miR-3942-3p	CLIP-seq
MIRT2059859	hsa-miR-4265	CLIP-seq
MIRT2059860	hsa-miR-4296	CLIP-seq
MIRT1208360	hsa-miR-4303	CLIP-seq
MIRT2288193	hsa-miR-4318	CLIP-seq
MIRT2059861	hsa-miR-4322	CLIP-seq
MIRT1208362	hsa-miR-433	CLIP-seq
MIRT2059862	hsa-miR-4417	CLIP-seq
MIRT2288194	hsa-miR-4435	CLIP-seq
MIRT1208369	hsa-miR-4495	CLIP-seq
MIRT2288195	hsa-miR-449a	CLIP-seq
MIRT2288196	hsa-miR-449b	CLIP-seq
MIRT2288197	hsa-miR-4501	CLIP-seq
MIRT2059863	hsa-miR-4505	CLIP-seq
MIRT1208370	hsa-miR-4509	CLIP-seq
MIRT2288198	hsa-miR-4514	CLIP-seq
MIRT1208375	hsa-miR-4643	CLIP-seq
MIRT1208376	hsa-miR-4645-5p	CLIP-seq
MIRT1208377	hsa-miR-4649-3p	CLIP-seq
MIRT2288199	hsa-miR-4652-5p	CLIP-seq
MIRT2288200	hsa-miR-4667-5p	CLIP-seq
MIRT1208379	hsa-miR-4673	CLIP-seq
MIRT2288201	hsa-miR-4692	CLIP-seq
MIRT2288202	hsa-miR-4693-5p	CLIP-seq
MIRT2288203	hsa-miR-4700-5p	CLIP-seq
MIRT2059865	hsa-miR-4703-3p	CLIP-seq
MIRT2288204	hsa-miR-4728-5p	CLIP-seq
MIRT2059866	hsa-miR-4731-3p	CLIP-seq
MIRT1208384	hsa-miR-4735-5p	CLIP-seq
MIRT1208385	hsa-miR-4744	CLIP-seq
MIRT1208386	hsa-miR-4755-3p	CLIP-seq
MIRT1208387	hsa-miR-4762-3p	CLIP-seq
MIRT2059868	hsa-miR-4801	CLIP-seq
MIRT2288205	hsa-miR-492	CLIP-seq
MIRT2059870	hsa-miR-494	CLIP-seq
MIRT1208395	hsa-miR-503	CLIP-seq
MIRT2288206	hsa-miR-520a-5p	CLIP-seq
MIRT2288207	hsa-miR-525-5p	CLIP-seq
MIRT2288208	hsa-miR-543	CLIP-seq
MIRT2288209	hsa-miR-576-5p	CLIP-seq
MIRT1208402	hsa-miR-593	CLIP-seq
MIRT2059871	hsa-miR-612	CLIP-seq
MIRT2288210	hsa-miR-650	CLIP-seq
MIRT2288211	hsa-miR-874	CLIP-seq
MIRT2288212	hsa-miR-892a	CLIP-seq
MIRT2059873	hsa-miR-96	CLIP-seq
MIRT1208325	hsa-miR-1915	CLIP-seq
MIRT1208327	hsa-miR-24	CLIP-seq
MIRT1208340	hsa-miR-3155	CLIP-seq
MIRT1208341	hsa-miR-3155b	CLIP-seq
MIRT1208346	hsa-miR-3194-5p	CLIP-seq
MIRT2288186	hsa-miR-323-3p	CLIP-seq
MIRT1208382	hsa-miR-4726-3p	CLIP-seq
MIRT1208393	hsa-miR-484	CLIP-seq
MIRT2455769	hsa-miR-2964a-5p	CLIP-seq
MIRT2288181	hsa-miR-3144-5p	CLIP-seq
MIRT2288184	hsa-miR-3191	CLIP-seq
MIRT2455770	hsa-miR-4502	CLIP-seq
MIRT2455771	hsa-miR-4522	CLIP-seq
MIRT2288199	hsa-miR-4652-5p	CLIP-seq
MIRT2288200	hsa-miR-4667-5p	CLIP-seq
MIRT2288203	hsa-miR-4700-5p	CLIP-seq
MIRT2455772	hsa-miR-4714-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001822	Process	Kidney development	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007498	Process	Mesoderm development	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008544	Process	Epidermis development	IEA
GO:0009913	Process	Epidermal cell differentiation	IBA
GO:0010839	Process	Negative regulation of keratinocyte proliferation	IEA
GO:0043588	Process	Skin development	IEA
GO:0043616	Process	Keratinocyte proliferation	IEA
GO:0044771	Process	Meiotic cell cycle phase transition	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051729	Process	Germline cell cycle switching, mitotic to meiotic cell cycle	IEA
GO:0072089	Process	Stem cell proliferation	IEA
GO:1901994	Process	Negative regulation of meiotic cell cycle phase transition	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA
GO:2000647	Process	Negative regulation of stem cell proliferation	IEA

Other IDs

• MIM: 602313
• HGNC: 8525
• e!Ensembl: ENSG00000172818

Protein

• UniProt ID: O14753
• Protein name: Putative transcription factor Ovo-like 1 (hOvo1)
• Protein function: Putative transcription factor. Involved in hair formation and spermatogenesis. May function in the differentiation and/or maintenance of the urogenital system (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00096	zf-C2H2	118 → 140	Zinc finger, C2H2 type	Domain
  PF13465	zf-H2C2_2	160 → 185		Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in fetal kidney, and also in adult pancreas and placenta. Not expressed in intestine, peripheral blood lymphocytes and ovary.
• Sequence:

  MPRAFLVKKPCVSTCKRNWSELPDEERGEIYVPVSLGFCPPQPYREPEPSVAEPPSCPLA
  LNMSLRDSSYSMAPGPCVVAQLPSEDMGHLTDPQSRDHGFLRTKMKVTLGDSPSGDLFTC
  RVCQKAFTYQRMLNRHMKCHNDVKRHLCTYCGKGFNDTFDLKRHVRTHTGVRPYKCSLCD
  KAFTQRCSLESHLKKIHGVQQKYAYKERRAKLYVCEECGCTSESQEGHVLHLKEHHPDSP
  LLRKTSKKVAVALQNTVTSLLQGSPHL

• Sequence length: 267

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLADDER CALCULUS	—	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
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, ATOPIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATINOCYTE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Acne Vulgaris	Associate	24927181	★☆☆☆☆ Found in Text Mining only
Alopecia	Associate	26873447	★☆☆☆☆ Found in Text Mining only
Asthma	Associate	33710309	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bowen's Disease	Stimulate	28339425	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Inhibit	35484112	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	37950222	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Associate	22430804	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Inhibit	28339425	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Associate	29749538	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Associate	28703805	★☆☆☆☆ Found in Text Mining only
Hair Diseases	Associate	26873447	★☆☆☆☆ Found in Text Mining only
Hereditary leiomyomatosis and renal cell cancer	Inhibit	36455002	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Associate	27765529	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	40261955	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	22430804, 28339425, 28578692, 40261955	★☆☆☆☆ Found in Text Mining only
Pilomatrixoma	Associate	26873447	★☆☆☆☆ Found in Text Mining only