SYS1 (SYS1 golgi trafficking protein)

Gene

• Entrez ID: 90196
• Gene name: SYS1 golgi trafficking protein
• Gene symbol: SYS1
• Synonyms (NCBI Gene): C20orf169, dJ453C12.4, dJ453C12.4.1
• Chromosome: 20
• Chromosome location: 20q13.12
• Summary: SYS1 forms a complex with ADP-ribosylation factor-related protein ARFRP1 (MIM 604699) and targets ARFRP1 to the Golgi apparatus (Behnia et al., 2004 [PubMed 15077113]).[supplied by OMIM, Aug 2009]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT026991	hsa-miR-103a-3p	Sequencing	20371350
MIRT1407025	hsa-miR-134	CLIP-seq
MIRT1407026	hsa-miR-3118	CLIP-seq
MIRT1407027	hsa-miR-3160-3p	CLIP-seq
MIRT1407028	hsa-miR-3164	CLIP-seq
MIRT1407029	hsa-miR-3672	CLIP-seq
MIRT1407030	hsa-miR-432	CLIP-seq
MIRT1407031	hsa-miR-4433	CLIP-seq
MIRT1407032	hsa-miR-4461	CLIP-seq
MIRT1407033	hsa-miR-4487	CLIP-seq
MIRT1407034	hsa-miR-4795-3p	CLIP-seq
MIRT1407035	hsa-miR-485-5p	CLIP-seq
MIRT1407036	hsa-miR-558	CLIP-seq
MIRT1407037	hsa-miR-617	CLIP-seq
MIRT1407038	hsa-miR-665	CLIP-seq
MIRT1407039	hsa-miR-1182	CLIP-seq
MIRT1407040	hsa-miR-1245b-3p	CLIP-seq
MIRT1407041	hsa-miR-125a-5p	CLIP-seq
MIRT1407042	hsa-miR-125b	CLIP-seq
MIRT1407043	hsa-miR-1324	CLIP-seq
MIRT1407044	hsa-miR-146b-3p	CLIP-seq
MIRT1407045	hsa-miR-15a	CLIP-seq
MIRT1407046	hsa-miR-15b	CLIP-seq
MIRT1407047	hsa-miR-16	CLIP-seq
MIRT1407048	hsa-miR-195	CLIP-seq
MIRT1407049	hsa-miR-3157-3p	CLIP-seq
MIRT1407050	hsa-miR-3173-5p	CLIP-seq
MIRT1407051	hsa-miR-3183	CLIP-seq
MIRT1407052	hsa-miR-337-3p	CLIP-seq
MIRT1407053	hsa-miR-3660	CLIP-seq
MIRT1407054	hsa-miR-421	CLIP-seq
MIRT1407055	hsa-miR-424	CLIP-seq
MIRT1407056	hsa-miR-4257	CLIP-seq
MIRT1407057	hsa-miR-4287	CLIP-seq
MIRT1407058	hsa-miR-4303	CLIP-seq
MIRT1407059	hsa-miR-4317	CLIP-seq
MIRT1407060	hsa-miR-4319	CLIP-seq
MIRT1407061	hsa-miR-4330	CLIP-seq
MIRT1407031	hsa-miR-4433	CLIP-seq
MIRT1407062	hsa-miR-4459	CLIP-seq
MIRT1407063	hsa-miR-4468	CLIP-seq
MIRT1407064	hsa-miR-4469	CLIP-seq
MIRT1407065	hsa-miR-4524	CLIP-seq
MIRT1407066	hsa-miR-4526	CLIP-seq
MIRT1407067	hsa-miR-4685-3p	CLIP-seq
MIRT1407068	hsa-miR-4690-3p	CLIP-seq
MIRT1407069	hsa-miR-4693-3p	CLIP-seq
MIRT1407070	hsa-miR-4694-5p	CLIP-seq
MIRT1407071	hsa-miR-4709-5p	CLIP-seq
MIRT1407072	hsa-miR-4723-3p	CLIP-seq
MIRT1407073	hsa-miR-4727-5p	CLIP-seq
MIRT1407074	hsa-miR-4728-3p	CLIP-seq
MIRT1407075	hsa-miR-4732-3p	CLIP-seq
MIRT1407076	hsa-miR-4761-5p	CLIP-seq
MIRT1407077	hsa-miR-4768-3p	CLIP-seq
MIRT1407078	hsa-miR-4769-3p	CLIP-seq
MIRT1407079	hsa-miR-497	CLIP-seq
MIRT1407080	hsa-miR-503	CLIP-seq
MIRT1407081	hsa-miR-545	CLIP-seq
MIRT1407082	hsa-miR-548c-3p	CLIP-seq
MIRT1407083	hsa-miR-556-5p	CLIP-seq
MIRT1407084	hsa-miR-628-5p	CLIP-seq
MIRT1407085	hsa-miR-646	CLIP-seq
MIRT1407086	hsa-miR-668	CLIP-seq
MIRT1407087	hsa-miR-670	CLIP-seq
MIRT1407088	hsa-miR-874	CLIP-seq
MIRT1407040	hsa-miR-1245b-3p	CLIP-seq
MIRT1407089	hsa-miR-1252	CLIP-seq
MIRT1407090	hsa-miR-1285	CLIP-seq
MIRT1407091	hsa-miR-150	CLIP-seq
MIRT1407092	hsa-miR-1587	CLIP-seq
MIRT1407045	hsa-miR-15a	CLIP-seq
MIRT1407046	hsa-miR-15b	CLIP-seq
MIRT1407047	hsa-miR-16	CLIP-seq
MIRT1407048	hsa-miR-195	CLIP-seq
MIRT1407093	hsa-miR-22	CLIP-seq
MIRT1407094	hsa-miR-2276	CLIP-seq
MIRT1407095	hsa-miR-23a	CLIP-seq
MIRT1407096	hsa-miR-23b	CLIP-seq
MIRT1407097	hsa-miR-23c	CLIP-seq
MIRT1407098	hsa-miR-298	CLIP-seq
MIRT1407099	hsa-miR-3125	CLIP-seq
MIRT1407100	hsa-miR-3180-5p	CLIP-seq
MIRT1407051	hsa-miR-3183	CLIP-seq
MIRT1407101	hsa-miR-3187-5p	CLIP-seq
MIRT1407052	hsa-miR-337-3p	CLIP-seq
MIRT1407102	hsa-miR-3652	CLIP-seq
MIRT1407103	hsa-miR-3675-3p	CLIP-seq
MIRT1407104	hsa-miR-378g	CLIP-seq
MIRT1407105	hsa-miR-3916	CLIP-seq
MIRT1407106	hsa-miR-3974	CLIP-seq
MIRT1407055	hsa-miR-424	CLIP-seq
MIRT1407107	hsa-miR-4326	CLIP-seq
MIRT1407061	hsa-miR-4330	CLIP-seq
MIRT1407108	hsa-miR-4430	CLIP-seq
MIRT1407031	hsa-miR-4433	CLIP-seq
MIRT1407062	hsa-miR-4459	CLIP-seq
MIRT1407109	hsa-miR-4486	CLIP-seq
MIRT1407033	hsa-miR-4487	CLIP-seq
MIRT1407110	hsa-miR-4492	CLIP-seq
MIRT1407111	hsa-miR-4496	CLIP-seq
MIRT1407112	hsa-miR-4498	CLIP-seq
MIRT1407065	hsa-miR-4524	CLIP-seq
MIRT1407113	hsa-miR-4535	CLIP-seq
MIRT1407114	hsa-miR-4656	CLIP-seq
MIRT1407115	hsa-miR-4675	CLIP-seq
MIRT1407116	hsa-miR-4685-5p	CLIP-seq
MIRT1407117	hsa-miR-4713-5p	CLIP-seq
MIRT1407072	hsa-miR-4723-3p	CLIP-seq
MIRT1407118	hsa-miR-4741	CLIP-seq
MIRT1407119	hsa-miR-4749-3p	CLIP-seq
MIRT1407077	hsa-miR-4768-3p	CLIP-seq
MIRT1407120	hsa-miR-4781-3p	CLIP-seq
MIRT1407121	hsa-miR-492	CLIP-seq
MIRT1407079	hsa-miR-497	CLIP-seq
MIRT1407080	hsa-miR-503	CLIP-seq
MIRT1407122	hsa-miR-514	CLIP-seq
MIRT1407123	hsa-miR-514b-3p	CLIP-seq
MIRT1407124	hsa-miR-532-3p	CLIP-seq
MIRT1407081	hsa-miR-545	CLIP-seq
MIRT1407082	hsa-miR-548c-3p	CLIP-seq
MIRT1407083	hsa-miR-556-5p	CLIP-seq
MIRT1407125	hsa-miR-612	CLIP-seq
MIRT1407085	hsa-miR-646	CLIP-seq
MIRT1407126	hsa-miR-7	CLIP-seq
MIRT1407127	hsa-miR-762	CLIP-seq
MIRT1407128	hsa-miR-885-3p	CLIP-seq
MIRT1407031	hsa-miR-4433	CLIP-seq
MIRT1407038	hsa-miR-665	CLIP-seq
MIRT2121979	hsa-miR-1827	CLIP-seq
MIRT2121980	hsa-miR-3689a-3p	CLIP-seq
MIRT2121981	hsa-miR-3689c	CLIP-seq
MIRT2121982	hsa-miR-4728-5p	CLIP-seq
MIRT2121983	hsa-miR-940	CLIP-seq
MIRT2121984	hsa-miR-1915	CLIP-seq
MIRT2121985	hsa-miR-214	CLIP-seq
MIRT1407051	hsa-miR-3183	CLIP-seq
MIRT2121986	hsa-miR-3619-5p	CLIP-seq
MIRT1407103	hsa-miR-3675-3p	CLIP-seq
MIRT1407068	hsa-miR-4690-3p	CLIP-seq
MIRT1407072	hsa-miR-4723-3p	CLIP-seq
MIRT2121987	hsa-miR-4726-3p	CLIP-seq
MIRT2121988	hsa-miR-761	CLIP-seq
MIRT1407089	hsa-miR-1252	CLIP-seq
MIRT2344292	hsa-miR-136	CLIP-seq
MIRT2344293	hsa-miR-141	CLIP-seq
MIRT2344294	hsa-miR-200a	CLIP-seq
MIRT2121985	hsa-miR-214	CLIP-seq
MIRT2344295	hsa-miR-2392	CLIP-seq
MIRT2344296	hsa-miR-3144-5p	CLIP-seq
MIRT2344297	hsa-miR-3154	CLIP-seq
MIRT1407051	hsa-miR-3183	CLIP-seq
MIRT2344298	hsa-miR-3191	CLIP-seq
MIRT2344299	hsa-miR-3529	CLIP-seq
MIRT2121986	hsa-miR-3619-5p	CLIP-seq
MIRT2344300	hsa-miR-3649	CLIP-seq
MIRT2344301	hsa-miR-3661	CLIP-seq
MIRT2344302	hsa-miR-379	CLIP-seq
MIRT2344303	hsa-miR-4451	CLIP-seq
MIRT1407033	hsa-miR-4487	CLIP-seq
MIRT2344304	hsa-miR-451b	CLIP-seq
MIRT2344305	hsa-miR-4650-3p	CLIP-seq
MIRT2344306	hsa-miR-4652-5p	CLIP-seq
MIRT2344307	hsa-miR-4679	CLIP-seq
MIRT1407072	hsa-miR-4723-3p	CLIP-seq
MIRT1407121	hsa-miR-492	CLIP-seq
MIRT2344308	hsa-miR-518a-5p	CLIP-seq
MIRT2344309	hsa-miR-527	CLIP-seq
MIRT2344310	hsa-miR-631	CLIP-seq
MIRT1407126	hsa-miR-7	CLIP-seq
MIRT2121988	hsa-miR-761	CLIP-seq
MIRT2460996	hsa-miR-1299	CLIP-seq
MIRT1407044	hsa-miR-146b-3p	CLIP-seq
MIRT1407049	hsa-miR-3157-3p	CLIP-seq
MIRT1407050	hsa-miR-3173-5p	CLIP-seq
MIRT1407051	hsa-miR-3183	CLIP-seq
MIRT2460997	hsa-miR-326	CLIP-seq
MIRT2460998	hsa-miR-330-5p	CLIP-seq
MIRT2460999	hsa-miR-4290	CLIP-seq
MIRT1407072	hsa-miR-4723-3p	CLIP-seq
MIRT1407088	hsa-miR-874	CLIP-seq
MIRT2461000	hsa-miR-875-3p	CLIP-seq
MIRT2637616	hsa-miR-4474-3p	CLIP-seq
MIRT2637617	hsa-miR-583	CLIP-seq
MIRT1407039	hsa-miR-1182	CLIP-seq
MIRT2637618	hsa-miR-1228	CLIP-seq
MIRT2637619	hsa-miR-1248	CLIP-seq
MIRT2637620	hsa-miR-1265	CLIP-seq
MIRT1407090	hsa-miR-1285	CLIP-seq
MIRT2344293	hsa-miR-141	CLIP-seq
MIRT1407091	hsa-miR-150	CLIP-seq
MIRT1407092	hsa-miR-1587	CLIP-seq
MIRT2344294	hsa-miR-200a	CLIP-seq
MIRT2637621	hsa-miR-200b	CLIP-seq
MIRT2637622	hsa-miR-200c	CLIP-seq
MIRT2121985	hsa-miR-214	CLIP-seq
MIRT2637623	hsa-miR-2277-3p	CLIP-seq
MIRT1407095	hsa-miR-23a	CLIP-seq
MIRT1407096	hsa-miR-23b	CLIP-seq
MIRT1407097	hsa-miR-23c	CLIP-seq
MIRT2637624	hsa-miR-3136-3p	CLIP-seq
MIRT2637625	hsa-miR-3153	CLIP-seq
MIRT1407100	hsa-miR-3180-5p	CLIP-seq
MIRT1407051	hsa-miR-3183	CLIP-seq
MIRT2637626	hsa-miR-3185	CLIP-seq
MIRT1407101	hsa-miR-3187-5p	CLIP-seq
MIRT2121986	hsa-miR-3619-5p	CLIP-seq
MIRT1407102	hsa-miR-3652	CLIP-seq
MIRT1407103	hsa-miR-3675-3p	CLIP-seq
MIRT2637627	hsa-miR-377	CLIP-seq
MIRT1407104	hsa-miR-378g	CLIP-seq
MIRT2637628	hsa-miR-3936	CLIP-seq
MIRT2637629	hsa-miR-429	CLIP-seq
MIRT2637630	hsa-miR-4291	CLIP-seq
MIRT2637631	hsa-miR-4297	CLIP-seq
MIRT1407058	hsa-miR-4303	CLIP-seq
MIRT1407107	hsa-miR-4326	CLIP-seq
MIRT1407061	hsa-miR-4330	CLIP-seq
MIRT1407108	hsa-miR-4430	CLIP-seq
MIRT1407063	hsa-miR-4468	CLIP-seq
MIRT2637616	hsa-miR-4474-3p	CLIP-seq
MIRT1407109	hsa-miR-4486	CLIP-seq
MIRT1407110	hsa-miR-4492	CLIP-seq
MIRT1407112	hsa-miR-4498	CLIP-seq
MIRT1407113	hsa-miR-4535	CLIP-seq
MIRT2637632	hsa-miR-4652-3p	CLIP-seq
MIRT1407114	hsa-miR-4656	CLIP-seq
MIRT2637633	hsa-miR-4668-5p	CLIP-seq
MIRT1407115	hsa-miR-4675	CLIP-seq
MIRT2344307	hsa-miR-4679	CLIP-seq
MIRT1407116	hsa-miR-4685-5p	CLIP-seq
MIRT1407068	hsa-miR-4690-3p	CLIP-seq
MIRT1407070	hsa-miR-4694-5p	CLIP-seq
MIRT1407117	hsa-miR-4713-5p	CLIP-seq
MIRT1407072	hsa-miR-4723-3p	CLIP-seq
MIRT1407118	hsa-miR-4741	CLIP-seq
MIRT1407076	hsa-miR-4761-5p	CLIP-seq
MIRT2637634	hsa-miR-4782-5p	CLIP-seq
MIRT2637635	hsa-miR-4793-3p	CLIP-seq
MIRT1407121	hsa-miR-492	CLIP-seq
MIRT2637636	hsa-miR-496	CLIP-seq
MIRT1407122	hsa-miR-514	CLIP-seq
MIRT1407123	hsa-miR-514b-3p	CLIP-seq
MIRT2637637	hsa-miR-515-5p	CLIP-seq
MIRT2637638	hsa-miR-516b	CLIP-seq
MIRT2344308	hsa-miR-518a-5p	CLIP-seq
MIRT2344309	hsa-miR-527	CLIP-seq
MIRT1407124	hsa-miR-532-3p	CLIP-seq
MIRT2637639	hsa-miR-548ag	CLIP-seq
MIRT2637640	hsa-miR-548ai	CLIP-seq
MIRT2637641	hsa-miR-548m	CLIP-seq
MIRT2637617	hsa-miR-583	CLIP-seq
MIRT1407125	hsa-miR-612	CLIP-seq
MIRT2637642	hsa-miR-635	CLIP-seq
MIRT1407087	hsa-miR-670	CLIP-seq
MIRT2637643	hsa-miR-760	CLIP-seq
MIRT2121988	hsa-miR-761	CLIP-seq
MIRT1407127	hsa-miR-762	CLIP-seq
MIRT2637644	hsa-miR-922	CLIP-seq
MIRT1407039	hsa-miR-1182	CLIP-seq
MIRT2637618	hsa-miR-1228	CLIP-seq
MIRT2637619	hsa-miR-1248	CLIP-seq
MIRT2637620	hsa-miR-1265	CLIP-seq
MIRT1407090	hsa-miR-1285	CLIP-seq
MIRT2344293	hsa-miR-141	CLIP-seq
MIRT1407091	hsa-miR-150	CLIP-seq
MIRT1407092	hsa-miR-1587	CLIP-seq
MIRT2344294	hsa-miR-200a	CLIP-seq
MIRT2637621	hsa-miR-200b	CLIP-seq
MIRT2637622	hsa-miR-200c	CLIP-seq
MIRT2637623	hsa-miR-2277-3p	CLIP-seq
MIRT1407095	hsa-miR-23a	CLIP-seq
MIRT1407096	hsa-miR-23b	CLIP-seq
MIRT1407097	hsa-miR-23c	CLIP-seq
MIRT2692522	hsa-miR-24	CLIP-seq
MIRT2637624	hsa-miR-3136-3p	CLIP-seq
MIRT1407100	hsa-miR-3180-5p	CLIP-seq
MIRT1407051	hsa-miR-3183	CLIP-seq
MIRT1407101	hsa-miR-3187-5p	CLIP-seq
MIRT2460997	hsa-miR-326	CLIP-seq
MIRT2460998	hsa-miR-330-5p	CLIP-seq
MIRT2692523	hsa-miR-335	CLIP-seq
MIRT2692524	hsa-miR-3622b-5p	CLIP-seq
MIRT1407102	hsa-miR-3652	CLIP-seq
MIRT1407103	hsa-miR-3675-3p	CLIP-seq
MIRT2637627	hsa-miR-377	CLIP-seq
MIRT1407104	hsa-miR-378g	CLIP-seq
MIRT2637628	hsa-miR-3936	CLIP-seq
MIRT2692525	hsa-miR-4284	CLIP-seq
MIRT2637629	hsa-miR-429	CLIP-seq
MIRT2637631	hsa-miR-4297	CLIP-seq
MIRT1407058	hsa-miR-4303	CLIP-seq
MIRT1407107	hsa-miR-4326	CLIP-seq
MIRT1407061	hsa-miR-4330	CLIP-seq
MIRT1407108	hsa-miR-4430	CLIP-seq
MIRT2692526	hsa-miR-4434	CLIP-seq
MIRT1407063	hsa-miR-4468	CLIP-seq
MIRT2637616	hsa-miR-4474-3p	CLIP-seq
MIRT1407109	hsa-miR-4486	CLIP-seq
MIRT1407110	hsa-miR-4492	CLIP-seq
MIRT1407112	hsa-miR-4498	CLIP-seq
MIRT2692527	hsa-miR-4516	CLIP-seq
MIRT2692528	hsa-miR-4522	CLIP-seq
MIRT1407113	hsa-miR-4535	CLIP-seq
MIRT2637632	hsa-miR-4652-3p	CLIP-seq
MIRT1407114	hsa-miR-4656	CLIP-seq
MIRT2692529	hsa-miR-4667-5p	CLIP-seq
MIRT1407115	hsa-miR-4675	CLIP-seq
MIRT2692530	hsa-miR-4678	CLIP-seq
MIRT2344307	hsa-miR-4679	CLIP-seq
MIRT1407116	hsa-miR-4685-5p	CLIP-seq
MIRT1407068	hsa-miR-4690-3p	CLIP-seq
MIRT1407070	hsa-miR-4694-5p	CLIP-seq
MIRT2692531	hsa-miR-4700-5p	CLIP-seq
MIRT1407117	hsa-miR-4713-5p	CLIP-seq
MIRT1407072	hsa-miR-4723-3p	CLIP-seq
MIRT1407118	hsa-miR-4741	CLIP-seq
MIRT1407076	hsa-miR-4761-5p	CLIP-seq
MIRT2692532	hsa-miR-4778-5p	CLIP-seq
MIRT2637634	hsa-miR-4782-5p	CLIP-seq
MIRT2637635	hsa-miR-4793-3p	CLIP-seq
MIRT1407121	hsa-miR-492	CLIP-seq
MIRT2637636	hsa-miR-496	CLIP-seq
MIRT1407122	hsa-miR-514	CLIP-seq
MIRT1407123	hsa-miR-514b-3p	CLIP-seq
MIRT2637637	hsa-miR-515-5p	CLIP-seq
MIRT2637638	hsa-miR-516b	CLIP-seq
MIRT2344308	hsa-miR-518a-5p	CLIP-seq
MIRT2344309	hsa-miR-527	CLIP-seq
MIRT1407124	hsa-miR-532-3p	CLIP-seq
MIRT2637639	hsa-miR-548ag	CLIP-seq
MIRT2637640	hsa-miR-548ai	CLIP-seq
MIRT2637641	hsa-miR-548m	CLIP-seq
MIRT2692533	hsa-miR-556-3p	CLIP-seq
MIRT1407125	hsa-miR-612	CLIP-seq
MIRT2692534	hsa-miR-615-5p	CLIP-seq
MIRT2692535	hsa-miR-637	CLIP-seq
MIRT1407038	hsa-miR-665	CLIP-seq
MIRT1407087	hsa-miR-670	CLIP-seq
MIRT2637643	hsa-miR-760	CLIP-seq
MIRT1407127	hsa-miR-762	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0000139	Component	Golgi membrane	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IBA
GO:0005829	Component	Cytosol	IEA
GO:0006895	Process	Golgi to endosome transport	IBA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0034067	Process	Protein localization to Golgi apparatus	IBA
GO:0043001	Process	Golgi to plasma membrane protein transport	IBA

Other IDs

• MIM: 612979
• HGNC: 16162
• e!Ensembl: ENSG00000204070

Protein

• UniProt ID: Q8N2H4
• Protein name: Protein SYS1 homolog
• Protein function: Involved in protein trafficking. May serve as a receptor for ARFRP1.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09801	SYS1	5 → 148	Integral membrane protein S linking to the trans Golgi network	Family

• Sequence:

  MAGQFRSYVWDPLLILSQIVLMQTVYYGSLGLWLALVDGLVRSSPSLDQMFDAEILGFST
  PPGRLSMMSFILNALTCALGLLYFIRRGKQCLDFTVTVHFFHLLGCWFYSSRFPSALTWW
  LVQAVCIALMAVIGEYLCMRTELKEIPLNSAPKSNV

• Sequence length: 156

Pathways

Reactome:

Retrograde transport at the Trans-Golgi-Network

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
MULTIPLE SCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Atrophy	Associate	33319642	★☆☆☆☆ Found in Text Mining only
Fibrosis	Associate	33319642	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Associate	33319642	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Stimulate	31804582	★☆☆☆☆ Found in Text Mining only