STS (steroid sulfatase)

Gene

• Entrez ID: 412
• Gene name: Steroid sulfatase
• Gene symbol: STS
• Synonyms (NCBI Gene): ARSC, ARSC1, ASC, ES, SSDD, XLI
• Chromosome: X
• Chromosome location: Xp22.31
• Summary: This gene encodes a multi-pass membrane protein that is localized to the endoplasmic reticulum. It belongs to the sulfatase family and hydrolyzes several 3-beta-hydroxysteroid sulfates, which serve as metabolic precursors for estrogens, androgens, and cho

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853165	T>A	Pathogenic	Coding sequence variant, missense variant
rs137853166	G>A	Pathogenic	Coding sequence variant, missense variant
rs137853167	C>T	Pathogenic	Coding sequence variant, missense variant
rs137853168	G>C	Pathogenic	Coding sequence variant, missense variant
rs137853169	A>G	Pathogenic	Coding sequence variant, missense variant
rs1064795456	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1463414987	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1555956229	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555967260	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1601748137	G>T	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019334	hsa-miR-148b-3p	Microarray	17612493
MIRT532547	hsa-miR-545-5p	PAR-CLIP	20371350
MIRT532548	hsa-miR-624-5p	PAR-CLIP	20371350
MIRT532547	hsa-miR-545-5p	PAR-CLIP	20371350
MIRT532546	hsa-miR-6892-3p	PAR-CLIP	20371350
MIRT532545	hsa-miR-7848-3p	PAR-CLIP	20371350
MIRT532548	hsa-miR-624-5p	PAR-CLIP	22012620
MIRT532547	hsa-miR-545-5p	PAR-CLIP	22012620
MIRT532546	hsa-miR-6892-3p	PAR-CLIP	22012620
MIRT532545	hsa-miR-7848-3p	PAR-CLIP	22012620
MIRT462576	hsa-miR-1264	PAR-CLIP	23592263
MIRT462575	hsa-miR-3200-5p	PAR-CLIP	23592263
MIRT462574	hsa-miR-4705	PAR-CLIP	23592263
MIRT462573	hsa-miR-3153	PAR-CLIP	23592263
MIRT462572	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT462571	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT462570	hsa-miR-4271	PAR-CLIP	23592263
MIRT462569	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT462568	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT462567	hsa-miR-4425	PAR-CLIP	23592263
MIRT462566	hsa-miR-3147	PAR-CLIP	23592263
MIRT462565	hsa-miR-130a-5p	PAR-CLIP	23592263
MIRT462564	hsa-miR-23a-3p	PAR-CLIP	23592263
MIRT462563	hsa-miR-23b-3p	PAR-CLIP	23592263
MIRT462562	hsa-miR-23c	PAR-CLIP	23592263
MIRT462561	hsa-miR-2110	PAR-CLIP	23592263
MIRT462559	hsa-miR-6810-5p	PAR-CLIP	23592263
MIRT462560	hsa-miR-3150a-3p	PAR-CLIP	23592263
MIRT462558	hsa-miR-6763-5p	PAR-CLIP	23592263
MIRT462557	hsa-miR-6857-5p	PAR-CLIP	23592263
MIRT462556	hsa-miR-6083	PAR-CLIP	23592263
MIRT462555	hsa-miR-450a-2-3p	PAR-CLIP	23592263
MIRT443775	hsa-miR-3925-5p	PAR-CLIP	22100165
MIRT443776	hsa-miR-3123	PAR-CLIP	22100165
MIRT443774	hsa-miR-3976	PAR-CLIP	22100165
MIRT443773	hsa-miR-3651	PAR-CLIP	22100165
MIRT443772	hsa-miR-539-5p	PAR-CLIP	22100165
MIRT443771	hsa-miR-4662a-5p	PAR-CLIP	22100165
MIRT532547	hsa-miR-545-5p	PAR-CLIP	20371350
MIRT532548	hsa-miR-624-5p	PAR-CLIP	20371350
MIRT532547	hsa-miR-545-5p	PAR-CLIP	20371350
MIRT532546	hsa-miR-6892-3p	PAR-CLIP	20371350
MIRT532545	hsa-miR-7848-3p	PAR-CLIP	20371350
MIRT532548	hsa-miR-624-5p	PAR-CLIP	22012620
MIRT532547	hsa-miR-545-5p	PAR-CLIP	22012620
MIRT532546	hsa-miR-6892-3p	PAR-CLIP	22012620
MIRT532545	hsa-miR-7848-3p	PAR-CLIP	22012620
MIRT462576	hsa-miR-1264	PAR-CLIP	23592263
MIRT462575	hsa-miR-3200-5p	PAR-CLIP	23592263
MIRT462574	hsa-miR-4705	PAR-CLIP	23592263
MIRT462573	hsa-miR-3153	PAR-CLIP	23592263
MIRT462572	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT462571	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT462570	hsa-miR-4271	PAR-CLIP	23592263
MIRT462569	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT462568	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT462567	hsa-miR-4425	PAR-CLIP	23592263
MIRT462566	hsa-miR-3147	PAR-CLIP	23592263
MIRT462565	hsa-miR-130a-5p	PAR-CLIP	23592263
MIRT462564	hsa-miR-23a-3p	PAR-CLIP	23592263
MIRT462563	hsa-miR-23b-3p	PAR-CLIP	23592263
MIRT462562	hsa-miR-23c	PAR-CLIP	23592263
MIRT462561	hsa-miR-2110	PAR-CLIP	23592263
MIRT462559	hsa-miR-6810-5p	PAR-CLIP	23592263
MIRT462560	hsa-miR-3150a-3p	PAR-CLIP	23592263
MIRT462558	hsa-miR-6763-5p	PAR-CLIP	23592263
MIRT462557	hsa-miR-6857-5p	PAR-CLIP	23592263
MIRT462556	hsa-miR-6083	PAR-CLIP	23592263
MIRT462555	hsa-miR-450a-2-3p	PAR-CLIP	23592263
MIRT443775	hsa-miR-3925-5p	PAR-CLIP	22100165
MIRT443776	hsa-miR-3123	PAR-CLIP	22100165
MIRT443774	hsa-miR-3976	PAR-CLIP	22100165
MIRT443773	hsa-miR-3651	PAR-CLIP	22100165
MIRT443772	hsa-miR-539-5p	PAR-CLIP	22100165
MIRT443771	hsa-miR-4662a-5p	PAR-CLIP	22100165
MIRT1399857	hsa-miR-1193	CLIP-seq
MIRT1399858	hsa-miR-125a-3p	CLIP-seq
MIRT1399859	hsa-miR-1324	CLIP-seq
MIRT1399860	hsa-miR-145	CLIP-seq
MIRT1399861	hsa-miR-1910	CLIP-seq
MIRT1399862	hsa-miR-1915	CLIP-seq
MIRT1399863	hsa-miR-2355-5p	CLIP-seq
MIRT1399864	hsa-miR-3121-3p	CLIP-seq
MIRT1399865	hsa-miR-3136-3p	CLIP-seq
MIRT1399866	hsa-miR-3150b-3p	CLIP-seq
MIRT1399867	hsa-miR-3154	CLIP-seq
MIRT1399868	hsa-miR-3163	CLIP-seq
MIRT1399869	hsa-miR-3165	CLIP-seq
MIRT1399870	hsa-miR-323-5p	CLIP-seq
MIRT1399871	hsa-miR-3612	CLIP-seq
MIRT1399872	hsa-miR-3614-3p	CLIP-seq
MIRT1399873	hsa-miR-3662	CLIP-seq
MIRT1399874	hsa-miR-3918	CLIP-seq
MIRT1399875	hsa-miR-3919	CLIP-seq
MIRT1399876	hsa-miR-3929	CLIP-seq
MIRT1399877	hsa-miR-3934	CLIP-seq
MIRT1399878	hsa-miR-4264	CLIP-seq
MIRT1399879	hsa-miR-4293	CLIP-seq
MIRT1399880	hsa-miR-4297	CLIP-seq
MIRT1399881	hsa-miR-4419b	CLIP-seq
MIRT1399882	hsa-miR-4427	CLIP-seq
MIRT1399883	hsa-miR-4434	CLIP-seq
MIRT1399884	hsa-miR-4443	CLIP-seq
MIRT1399885	hsa-miR-4478	CLIP-seq
MIRT1399886	hsa-miR-4516	CLIP-seq
MIRT1399887	hsa-miR-4531	CLIP-seq
MIRT1399888	hsa-miR-455-3p	CLIP-seq
MIRT1399889	hsa-miR-4659a-3p	CLIP-seq
MIRT1399890	hsa-miR-4659b-3p	CLIP-seq
MIRT1399891	hsa-miR-4680-3p	CLIP-seq
MIRT1399892	hsa-miR-4685-5p	CLIP-seq
MIRT1399893	hsa-miR-4689	CLIP-seq
MIRT1399894	hsa-miR-4694-3p	CLIP-seq
MIRT1399895	hsa-miR-4704-3p	CLIP-seq
MIRT1399896	hsa-miR-4717-5p	CLIP-seq
MIRT1399897	hsa-miR-4724-3p	CLIP-seq
MIRT1399898	hsa-miR-4756-3p	CLIP-seq
MIRT1399899	hsa-miR-4784	CLIP-seq
MIRT1399900	hsa-miR-4797-3p	CLIP-seq
MIRT1399901	hsa-miR-485-5p	CLIP-seq
MIRT1399902	hsa-miR-513a-3p	CLIP-seq
MIRT1399903	hsa-miR-645	CLIP-seq
MIRT1399904	hsa-miR-650	CLIP-seq
MIRT1399905	hsa-miR-654-3p	CLIP-seq
MIRT1399906	hsa-miR-659	CLIP-seq
MIRT1399907	hsa-miR-671-5p	CLIP-seq
MIRT1399908	hsa-miR-764	CLIP-seq
MIRT1399909	hsa-miR-942	CLIP-seq
MIRT2119867	hsa-miR-1227	CLIP-seq
MIRT2119868	hsa-miR-185	CLIP-seq
MIRT1399862	hsa-miR-1915	CLIP-seq
MIRT2119869	hsa-miR-2052	CLIP-seq
MIRT2119870	hsa-miR-2277-3p	CLIP-seq
MIRT2119871	hsa-miR-296-3p	CLIP-seq
MIRT2119872	hsa-miR-3132	CLIP-seq
MIRT2119873	hsa-miR-3148	CLIP-seq
MIRT2119874	hsa-miR-3152-5p	CLIP-seq
MIRT2119875	hsa-miR-3189-3p	CLIP-seq
MIRT2119876	hsa-miR-323b-3p	CLIP-seq
MIRT2119877	hsa-miR-3658	CLIP-seq
MIRT2119878	hsa-miR-3664-3p	CLIP-seq
MIRT2119879	hsa-miR-3688-3p	CLIP-seq
MIRT2119880	hsa-miR-3692	CLIP-seq
MIRT2119881	hsa-miR-4252	CLIP-seq
MIRT2119882	hsa-miR-4265	CLIP-seq
MIRT2119883	hsa-miR-4296	CLIP-seq
MIRT2119884	hsa-miR-4306	CLIP-seq
MIRT2119885	hsa-miR-4312	CLIP-seq
MIRT2119886	hsa-miR-4322	CLIP-seq
MIRT1399882	hsa-miR-4427	CLIP-seq
MIRT2119887	hsa-miR-4433	CLIP-seq
MIRT2119888	hsa-miR-4459	CLIP-seq
MIRT2119889	hsa-miR-450b-3p	CLIP-seq
MIRT2119890	hsa-miR-4644	CLIP-seq
MIRT1399889	hsa-miR-4659a-3p	CLIP-seq
MIRT1399890	hsa-miR-4659b-3p	CLIP-seq
MIRT1399891	hsa-miR-4680-3p	CLIP-seq
MIRT2119891	hsa-miR-4711-5p	CLIP-seq
MIRT2119892	hsa-miR-4726-3p	CLIP-seq
MIRT2119893	hsa-miR-4768-3p	CLIP-seq
MIRT2119894	hsa-miR-4773	CLIP-seq
MIRT2119895	hsa-miR-4774-3p	CLIP-seq
MIRT2119896	hsa-miR-4795-3p	CLIP-seq
MIRT2119897	hsa-miR-548a-3p	CLIP-seq
MIRT2119898	hsa-miR-548e	CLIP-seq
MIRT2119899	hsa-miR-548f	CLIP-seq
MIRT2119900	hsa-miR-769-3p	CLIP-seq
MIRT2119901	hsa-miR-938	CLIP-seq
MIRT2341933	hsa-miR-103a	CLIP-seq
MIRT2341934	hsa-miR-107	CLIP-seq
MIRT2341935	hsa-miR-1184	CLIP-seq
MIRT1399857	hsa-miR-1193	CLIP-seq
MIRT2341936	hsa-miR-1206	CLIP-seq
MIRT2341937	hsa-miR-1229	CLIP-seq
MIRT2341938	hsa-miR-1238	CLIP-seq
MIRT2341939	hsa-miR-1273e	CLIP-seq
MIRT2341940	hsa-miR-1273f	CLIP-seq
MIRT1399859	hsa-miR-1324	CLIP-seq
MIRT2341941	hsa-miR-137	CLIP-seq
MIRT2341942	hsa-miR-138	CLIP-seq
MIRT2341943	hsa-miR-143	CLIP-seq
MIRT2119868	hsa-miR-185	CLIP-seq
MIRT1399862	hsa-miR-1915	CLIP-seq
MIRT2341944	hsa-miR-2117	CLIP-seq
MIRT2119870	hsa-miR-2277-3p	CLIP-seq
MIRT1399863	hsa-miR-2355-5p	CLIP-seq
MIRT2341945	hsa-miR-2392	CLIP-seq
MIRT2341946	hsa-miR-25	CLIP-seq
MIRT2341947	hsa-miR-3065-5p	CLIP-seq
MIRT2341948	hsa-miR-30a	CLIP-seq
MIRT2341949	hsa-miR-30b	CLIP-seq
MIRT2341950	hsa-miR-30c	CLIP-seq
MIRT2341951	hsa-miR-30d	CLIP-seq
MIRT2341952	hsa-miR-30e	CLIP-seq
MIRT1399864	hsa-miR-3121-3p	CLIP-seq
MIRT2341953	hsa-miR-3124-3p	CLIP-seq
MIRT2341954	hsa-miR-3143	CLIP-seq
MIRT2341955	hsa-miR-3145-5p	CLIP-seq
MIRT2119873	hsa-miR-3148	CLIP-seq
MIRT1399867	hsa-miR-3154	CLIP-seq
MIRT1399869	hsa-miR-3165	CLIP-seq
MIRT2341956	hsa-miR-3182	CLIP-seq
MIRT2341957	hsa-miR-3188	CLIP-seq
MIRT2341958	hsa-miR-32	CLIP-seq
MIRT1399870	hsa-miR-323-5p	CLIP-seq
MIRT2341959	hsa-miR-33a	CLIP-seq
MIRT2341960	hsa-miR-33b	CLIP-seq
MIRT2341961	hsa-miR-3615	CLIP-seq
MIRT2341962	hsa-miR-363	CLIP-seq
MIRT2341963	hsa-miR-3654	CLIP-seq
MIRT2119878	hsa-miR-3664-3p	CLIP-seq
MIRT2341964	hsa-miR-3665	CLIP-seq
MIRT2341965	hsa-miR-367	CLIP-seq
MIRT2341966	hsa-miR-3673	CLIP-seq
MIRT2341967	hsa-miR-3675-5p	CLIP-seq
MIRT2119879	hsa-miR-3688-3p	CLIP-seq
MIRT2341968	hsa-miR-3691-3p	CLIP-seq
MIRT2341969	hsa-miR-3691-5p	CLIP-seq
MIRT2119880	hsa-miR-3692	CLIP-seq
MIRT2341970	hsa-miR-378	CLIP-seq
MIRT2341971	hsa-miR-378b	CLIP-seq
MIRT2341972	hsa-miR-378c	CLIP-seq
MIRT2341973	hsa-miR-378d	CLIP-seq
MIRT2341974	hsa-miR-378e	CLIP-seq
MIRT2341975	hsa-miR-378f	CLIP-seq
MIRT2341976	hsa-miR-378h	CLIP-seq
MIRT2341977	hsa-miR-378i	CLIP-seq
MIRT2341978	hsa-miR-3920	CLIP-seq
MIRT2341979	hsa-miR-3921	CLIP-seq
MIRT2341980	hsa-miR-3941	CLIP-seq
MIRT2341981	hsa-miR-3942-3p	CLIP-seq
MIRT2341982	hsa-miR-422a	CLIP-seq
MIRT2341983	hsa-miR-4266	CLIP-seq
MIRT2341984	hsa-miR-4273	CLIP-seq
MIRT2119884	hsa-miR-4306	CLIP-seq
MIRT2341985	hsa-miR-4310	CLIP-seq
MIRT1399882	hsa-miR-4427	CLIP-seq
MIRT2119887	hsa-miR-4433	CLIP-seq
MIRT2341986	hsa-miR-4450	CLIP-seq
MIRT2119888	hsa-miR-4459	CLIP-seq
MIRT2341987	hsa-miR-4463	CLIP-seq
MIRT2341988	hsa-miR-4464	CLIP-seq
MIRT2341989	hsa-miR-4477a	CLIP-seq
MIRT2341990	hsa-miR-4502	CLIP-seq
MIRT2341991	hsa-miR-4503	CLIP-seq
MIRT2341992	hsa-miR-4525	CLIP-seq
MIRT2119890	hsa-miR-4644	CLIP-seq
MIRT2341993	hsa-miR-4653-5p	CLIP-seq
MIRT1399889	hsa-miR-4659a-3p	CLIP-seq
MIRT1399890	hsa-miR-4659b-3p	CLIP-seq
MIRT2341994	hsa-miR-466	CLIP-seq
MIRT2341995	hsa-miR-4667-5p	CLIP-seq
MIRT2341996	hsa-miR-4672	CLIP-seq
MIRT1399891	hsa-miR-4680-3p	CLIP-seq
MIRT1399894	hsa-miR-4694-3p	CLIP-seq
MIRT2341997	hsa-miR-4695-5p	CLIP-seq
MIRT2341998	hsa-miR-4700-5p	CLIP-seq
MIRT2341999	hsa-miR-4708-5p	CLIP-seq
MIRT2119891	hsa-miR-4711-5p	CLIP-seq
MIRT2342000	hsa-miR-4728-3p	CLIP-seq
MIRT2342001	hsa-miR-4731-3p	CLIP-seq
MIRT2342002	hsa-miR-4748	CLIP-seq
MIRT2342003	hsa-miR-4762-3p	CLIP-seq
MIRT2119893	hsa-miR-4768-3p	CLIP-seq
MIRT2342004	hsa-miR-4768-5p	CLIP-seq
MIRT2342005	hsa-miR-4770	CLIP-seq
MIRT2342006	hsa-miR-4772-3p	CLIP-seq
MIRT2342007	hsa-miR-4776-3p	CLIP-seq
MIRT2342008	hsa-miR-4779	CLIP-seq
MIRT2119896	hsa-miR-4795-3p	CLIP-seq
MIRT2342009	hsa-miR-4801	CLIP-seq
MIRT2342010	hsa-miR-483-3p	CLIP-seq
MIRT2342011	hsa-miR-495	CLIP-seq
MIRT2342012	hsa-miR-500a	CLIP-seq
MIRT2342013	hsa-miR-512-5p	CLIP-seq
MIRT2342014	hsa-miR-532-5p	CLIP-seq
MIRT2119897	hsa-miR-548a-3p	CLIP-seq
MIRT2119898	hsa-miR-548e	CLIP-seq
MIRT2119899	hsa-miR-548f	CLIP-seq
MIRT2342015	hsa-miR-550b	CLIP-seq
MIRT2342016	hsa-miR-577	CLIP-seq
MIRT2342017	hsa-miR-579	CLIP-seq
MIRT2342018	hsa-miR-587	CLIP-seq
MIRT2342019	hsa-miR-596	CLIP-seq
MIRT2342020	hsa-miR-600	CLIP-seq
MIRT2342021	hsa-miR-885-3p	CLIP-seq
MIRT2342022	hsa-miR-92a	CLIP-seq
MIRT2342023	hsa-miR-92b	CLIP-seq
MIRT2119901	hsa-miR-938	CLIP-seq
MIRT1399909	hsa-miR-942	CLIP-seq
MIRT2342024	hsa-miR-943	CLIP-seq
MIRT2341933	hsa-miR-103a	CLIP-seq
MIRT2341934	hsa-miR-107	CLIP-seq
MIRT2341935	hsa-miR-1184	CLIP-seq
MIRT2119878	hsa-miR-3664-3p	CLIP-seq
MIRT2341985	hsa-miR-4310	CLIP-seq
MIRT1399859	hsa-miR-1324	CLIP-seq
MIRT1399870	hsa-miR-323-5p	CLIP-seq
MIRT2692321	hsa-miR-128	CLIP-seq
MIRT2692322	hsa-miR-1322	CLIP-seq
MIRT2692323	hsa-miR-140-3p	CLIP-seq
MIRT2692324	hsa-miR-203	CLIP-seq
MIRT2692325	hsa-miR-3119	CLIP-seq
MIRT2692326	hsa-miR-3611	CLIP-seq
MIRT2692327	hsa-miR-3924	CLIP-seq
MIRT2692328	hsa-miR-4417	CLIP-seq
MIRT2692329	hsa-miR-4720-3p	CLIP-seq
MIRT2692330	hsa-miR-4760-3p	CLIP-seq
MIRT2692331	hsa-miR-4804-3p	CLIP-seq
MIRT2692332	hsa-miR-598	CLIP-seq
MIRT2692333	hsa-miR-7	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
STAT3	Activation	21331591

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004065	Function	Arylsulfatase activity	IBA
GO:0004773	Function	Steryl-sulfatase activity	IEA
GO:0004773	Function	Steryl-sulfatase activity	TAS	2668275
GO:0005764	Component	Lysosome	TAS	2668275
GO:0005768	Component	Endosome	TAS	2668275
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	TAS	2668275
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005794	Component	Golgi apparatus	TAS	2668275
GO:0005886	Component	Plasma membrane	TAS	2668275
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006706	Process	Steroid catabolic process	TAS	6957717
GO:0007565	Process	Female pregnancy	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008484	Function	Sulfuric ester hydrolase activity	IDA	15962010
GO:0008544	Process	Epidermis development	TAS	9252398
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	2668275
GO:0016787	Function	Hydrolase activity	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	TAS	6957717
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 300747
• HGNC: 11425
• e!Ensembl: ENSG00000101846

Protein

• UniProt ID: P08842
• Protein name: Steryl-sulfatase (EC 3.1.6.2) (Arylsulfatase C) (ASC) (Estrone sulfatase) (Steroid sulfatase) (Steryl-sulfate sulfohydrolase)
• Protein function: Catalyzes the conversion of sulfated steroid precursors, such as dehydroepiandrosterone sulfate (DHEA-S) and estrone sulfate to the free steroid.
• PDB: 1P49, 8EG3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00884	Sulfatase	27 → 413	Sulfatase	Family
  PF14707	Sulfatase_C	437 → 572		Domain

• Sequence:

  MPLRKMKIPFLLLFFLWEAESHAASRPNIILVMADDLGIGDPGCYGNKTIRTPNIDRLAS
  GGVKLTQHLAASPLCTPSRAAFMTGRYPVRSGMASWSRTGVFLFTASSGGLPTDEITFAK
  LLKDQGYSTALIGKWHLGMSCHSKTDFCHHPLHHGFNYFYGISLTNLRDCKPGEGSVFTT
  GFKRLVFLPLQIVGVTLLTLAALNCLGLLHVPLGVFFSLLFLAALILTLFLGFLHYFRPL
  NCFMMRNYEIIQQPMSYDNLTQRLTVEAAQFIQRNTETPFLLVLSYLHVHTALFSSKDFA
  GKSQHGVYGDAVEEMDWSVGQILNLLDELRLANDTLIYFTSDQGAHVEEVSSKGEIHGGS
  NGIYKGGKANNWEGGIRVPGILRWPRVIQAGQKIDEPTSNMDIFPTVAKLAGAPLPEDRI
  IDGRDLMPLLEGKSQRSDHEFLFHYCNAYLNAVRWHPQNSTSIWKAFFFTPNFNPVGSNG
  CFATHVCFCFGSYVTHHDPPLLFDISKDPRERNPLTPASEPRFYEILKVMQEAADRHTQT
  LPEVPDQFSWNNFLWKPWLQLCCPSTGLSCQCDREKQDKRLSR

• Sequence length: 583

Pathways

KEGG:

Steroid hormone biosynthesis
Metabolic pathways

Reactome:

Glycosphingolipid metabolism
The activation of arylsulfatases

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
STS-related disorder	Likely pathogenic	rs2518726328	RCV003408763	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked ichthyosis with steryl-sulfatase deficiency	Likely pathogenic; Pathogenic	rs2147089236, rs1927377513, rs137853165, rs137853166, rs137853169, rs1601748137, rs2518683298, rs1463414987	RCV001783828 RCV002466828 RCV000011298 RCV000011299 RCV000011302 RCV000011303 RCV005220747 RCV000853199	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS, ALCOHOLIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSULIN RESISTANCE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
46, XX Testicular Disorders of Sex Development	46, XX Gonadal Sex Reversal	BEFREE	2341154		★☆☆☆☆ Found in Text Mining only
Achromatopsia	Achromatopsia	BEFREE	21912902		★☆☆☆☆ Found in Text Mining only
Acute Cerebrovascular Accidents	Stroke	BEFREE	29764930		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	10398431, 16778195, 19689463, 23065574, 24603303		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	16186806		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	10398431		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	17986858		★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	BEFREE	1674724, 1979048		★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	BEFREE	10828635		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	18791131, 29293211, 29634349		★☆☆☆☆ Found in Text Mining only
Anaplastic Oligoastrocytoma	Anaplastic Oligoastrocytoma	BEFREE	24264532		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	23452957, 29854761		★☆☆☆☆ Found in Text Mining only
Angioimmunoblastic Lymphadenopathy	Angioimmunoblastic T-cell lymphoma	BEFREE	31069759		★☆☆☆☆ Found in Text Mining only
Aortic valve calcification	Aortic valve calcification	BEFREE	28977497		★☆☆☆☆ Found in Text Mining only
Aortic valve disorder	Aortic Valve Disease	BEFREE	28382803		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	28521923		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	28321002, 31089712		★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial Occlusive Disease	BEFREE	29190355		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	24688120		★☆☆☆☆ Found in Text Mining only
ARTHROGRYPOSIS, DISTAL, TYPE 2B	Sheldon-Hall syndrome	BEFREE	31411506		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	30544130		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	LHGDN	18249534		★☆☆☆☆ Found in Text Mining only
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	Ataxia-oculomotor apraxia	BEFREE	24264532		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	14507642	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	24688120		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	31402470		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	CTD_human_DG	18413370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	20862695, 21255266, 28367959	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	18413370, 18937300, 20862695, 21255266, 28293481, 28367959		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	CTD_human_DG	18413370		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Auditory Perceptual Disorders	Auditory perceptual disorder	Pubtator	21255266	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	27531389		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	18413370, 28180069, 29052806		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	LHGDN	18413370		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	9654206		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	2787453		★☆☆☆☆ Found in Text Mining only
Barakat syndrome	Hypoparathyroidism-deafness-renal disease syndrome	BEFREE	26731259		★☆☆☆☆ Found in Text Mining only
Bedwetting	Nocturnal enuresis	BEFREE	20941942		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	25432062		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	26264279, 30542396, 31234917		★☆☆☆☆ Found in Text Mining only
Brachytelephalangic Chondrodysplasia Punctata	Brachytelephalangic Chondrodysplasia Punctata	BEFREE	2750777		★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain Infarction	BEFREE	30909283		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	11210186		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	LHGDN	18249534		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11250930, 12782580, 14979917, 16399357, 16541422, 16556483, 17061037, 17089039, 17214375, 17268815, 17596930, 19159687, 19250194, 19250195, 19551860, 20015473, 28032462, 28406629, 28429243, 28475015, 28795252, 29563635, 29803725, 30320251, 7713491, 8664167, 9927050		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10574257, 12657638, 17214375, 29563635	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	17986858		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	26264279, 30542396, 31234917		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16778195, 28527969, 29174391, 31323209		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	34321053	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	15041718, 18723074, 28588698, 30986993, 31522033		★☆☆☆☆ Found in Text Mining only
Cat eye syndrome	Cat Eye Syndrome	BEFREE	12599190		★☆☆☆☆ Found in Text Mining only
Catalepsy	Catalepsy	BEFREE	28597570		★☆☆☆☆ Found in Text Mining only
CATARACT, AUTOSOMAL DOMINANT	Cataract	BEFREE	16877414		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28977497, 29548665		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	17355305, 19258216, 23010706		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	17091508, 19901435, 22808295, 23881840		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	17355305, 19258216, 20116836, 23010706		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	21945601		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	16911948, 22230750		★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	BEFREE	29901555, 31069759		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	BEFREE	26457439		★☆☆☆☆ Found in Text Mining only
Chondrodysplasia Punctata	Chondrodysplasia Punctata	BEFREE	16470742, 1951426, 2265834, 2339111, 7789987, 8832947		★☆☆☆☆ Found in Text Mining only
Chondrodysplasia punctata, X-linked dominant type	Chondrodysplasia Punctata	BEFREE	8832947		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	31567115		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29241624, 29948504		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28578705		★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	BEFREE	26457439		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	22828789, 30422379		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	22266243, 31069759		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	27647858, 29088461, 30726894		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	8577718		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	14643031, 16331272, 17986858, 28326039, 28945888		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASDB_DG	22532847		★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	29572082		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	23791652, 6945285		★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	1979048, 24130705, 24291327, 26731259, 27003302, 29901853, 30021537, 3032454, 3474618, 6652948, 6930361, 9247725, 9336808		★☆☆☆☆ Found in Text Mining only
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	BEFREE	24130705, 26731259		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	26700661, 28072632		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26093088		★☆☆☆☆ Found in Text Mining only
Corneal Dystrophies Hereditary	Corneal dystrophy	Pubtator	28302098	Associate	★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	BEFREE	10612512		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	28612915, 30573061		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	15063784		★☆☆☆☆ Found in Text Mining only
Cryopyrin-Associated Periodic Syndromes	Cryopyrin-Associated Periodic Syndromes	BEFREE	24952504		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	16550456		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	31532390		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	15498798, 29803179		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	10679952, 26676689		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28040286		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28447181, 29508169, 29588192, 30060148, 30422379, 31467560		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	28447181		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	29508169		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	19239430		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	15063784		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	3864397		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	21945601		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	22003197		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	15355916, 30217785		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	18467089		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial Hyperplasia	LHGDN	18467089		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	15355916, 17415442		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	15302278, 17454161		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	16084891, 17921479, 25767055, 26723541, 28406629		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	16084891	Associate	★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia Verruciformis	BEFREE	31665908		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Dystrophica	Epidermolysis Bullosa	BEFREE	20523032		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	28588698, 30986993		★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	16092108		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	26818951		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	CTD_human_DG	24497646		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver Disease	Fatty Liver	BEFREE	30103942		★☆☆☆☆ Found in Text Mining only
Fibroadenoma	Fibroadenoma	BEFREE	19096148		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	28056049		★☆☆☆☆ Found in Text Mining only
Gastric Varix	Gastric Varix	BEFREE	28180928		★☆☆☆☆ Found in Text Mining only
Gastroparesis	Gastroparesis	BEFREE	28819791		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	15094455, 15466382, 17048097, 31346613		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	18249534		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	15094455, 15466382, 17048097, 24264532, 26934681, 31346613		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	26700661, 28072632		★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic Encephalopathy	BEFREE	28180928		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	9149942		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	29587288		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	29587288		★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	BEFREE	30649347		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29190355		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	3150366, 6584254		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	BEFREE	26731259		★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	1979048, 24291327, 27003302, 29901853, 30021537, 3032454, 3474618, 6652948, 6930361, 8832947, 9247725, 9336808		★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosiform Erythroderma, Congenital	Ichthyosis Congenita	BEFREE	24130705, 26731259		★☆☆☆☆ Found in Text Mining only
Ichthyosiform Erythroderma, Congenital	Ichthyosis Congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis Vulgaris	Ichthyosis Vulgaris	BEFREE	11231321, 17657246, 21945601, 24130705		★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	10393443, 10396356, 10679952, 10692123, 10759956, 10828635, 10844566, 11231321, 11477606, 11844872, 11910205, 12406347, 14641695, 1539590, 155398, 15561802, 15607112, 15888481, 16390921, 17113756, 17657246, 18076704, 18205863, 18413370, 19200188, 1923309, 20236202, 20523032, 2080119, 20941942, 21739574, 21945601, 22164253, 22486194, 2366000, 23791652, 23807007, 23939749, 24130705, 2493225, 25597551, 25659225, 25689220, 2573275, 2644167, 26676689, 28253503, 28710038, 293682, 29672931, 29901853, 30014053, 30021537, 3034252, 30768640, 3116328, 3478297, 3864397, 6461439, 6584254, 6930361, 6939689, 6947980, 7208152, 76401, 7903581, 8473391, 8588575, 8615047, 9175741, 9242515, 9252398, 9336808, 9375723, 9727739, 9764155		★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	ORPHANET_DG	10583107, 10692123		★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	CTD_human_DG	10679952, 14641695, 9623797		★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	UNIPROT_DG	10679952, 10844566, 1539590, 9252398		★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	GENOMICS_ENGLAND_DG	1539590, 9252398		★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	26306997		★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	11477606, 12406347, 1539590, 2813406		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	31069759		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	10843811, 17113756, 18076704, 23791652, 3864397, 7789987, 8817333, 8870926, 9727739		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	29443417		★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	20607682		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	BEFREE	2328992, 2339111, 25597551, 28253503, 7915878, 8276392, 8473391		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	23939749, 30922667		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	35715831	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	31567115		★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	BEFREE	29052806		★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	31312615		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	17016622		★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	9049181		★☆☆☆☆ Found in Text Mining only
Liposarcoma, Dedifferentiated	liposarcoma	BEFREE	30249211		★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	19757161, 27668844		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	22266243, 31069759		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	21390212		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	29551295		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	15094455		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10925213, 11250930, 12776200, 12949795, 16399357, 16541422, 16556483, 17061037, 17089039, 17214375, 17268815, 17596930, 19159687, 19250194, 19250195, 19551860, 28032462, 28406629, 28429243, 28475015, 28795252, 29563635, 29803725, 30320251, 7713491, 8664167, 9927050		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	30217785		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	12632495		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16778195, 28527969, 29174391, 31323209		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	15041718, 31522033		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16425203, 16541422, 16848908, 22831834, 23104178, 23219429, 24055520, 25432062, 27045473, 27956712, 28323036, 28528814, 29425687, 30692044, 30807787, 9397200		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26260914		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	16550456		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	26264279, 30542396, 31234917		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10925213, 16541422, 16911948, 18847555, 19250195, 22230750, 27956712, 28032462, 29102082, 30072146, 30738816, 31195119, 8640789		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	17355305, 19258216, 23010706		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	11250930, 15466382, 15561802, 19419812, 20015473		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12231117		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	12949795		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	12949795, 22931929, 27869170		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	LHGDN	18249534		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	10843811, 17113756, 18076704, 23791652, 3864397, 7789987, 8817333, 8870926, 9727739		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	8870926		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	BEFREE	8870926, 9727739		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	29224107		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	30172756		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	30462312		★☆☆☆☆ Found in Text Mining only
Minimal Brain Dysfunction	Minimal Brain Dysfunction	CTD_human_DG	18413370		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	30768640		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	28148962		★☆☆☆☆ Found in Text Mining only
Multiple Sulfatase Deficiency Disease	Multiple Sulfatase Deficiency	BEFREE	3116328, 6731437, 9336808		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	30072146		★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	30072146		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	29748874		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10545798, 11250930, 12707044, 12782580, 14643031, 14695341, 15561802, 16166425, 16425203, 16435073, 16556483, 16752221, 16848908, 16870048, 17048097, 17061037, 17214375, 17268815, 17596930, 17986858, 19159687, 19250194, 19528452, 19747768, 20716965, 20833385, 22808295, 22831834, 23110891, 24603303, 26093088, 27956712, 28465562, 29132873, 30334568, 30393160, 30986993, 31195119, 31449981, 31610904, 8664167, 9927050		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	29241624		★☆☆☆☆ Found in Text Mining only
Nephronophthisis 1	Nephronophthisis	BEFREE	8697815		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	22419362		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	30977509		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	21255266		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	16870048, 24603303		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	18310280		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	1979048		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	CTD_human_DG	24497646		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	24550737, 29588192, 30060148, 30276973, 31379826		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ocular albinism, type I	Ocular albinism	BEFREE	10443071, 1674724, 7789987		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	12796397		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	21375402, 9391878		★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglophonic dwarfism	Pubtator	35403328	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	30422379		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28391262, 31449981		★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	BEFREE	24652041, 30676848		★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	BEFREE	31821259		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	15041718, 31522033		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	15302278	Associate	★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	15584047		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	28811976		★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	30078147		★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal Fibrosis	BEFREE	31070930, 31316105		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	LHGDN	18249534		★☆☆☆☆ Found in Text Mining only
Placental Steroid Sulfatase Deficiency	Placental Steroid Sulfatase Deficiency	ORPHANET_DG	10583107, 10692123		★☆☆☆☆ Found in Text Mining only
Placental Steroid Sulfatase Deficiency	Placental Steroid Sulfatase Deficiency	BEFREE	10679952, 10692123, 10844566, 11231321, 11844872, 12406347, 1539590, 1549475, 15561802, 15607112, 16390921, 1639422, 16504797, 19200188, 1923309, 20236202, 2080119, 20941942, 21739574, 21945601, 2366000, 23791652, 23807007, 24130705, 25597551, 25689220, 2573275, 28253503, 293682, 3034252, 3478297, 3864397, 6461439, 6930361, 6939689, 6947980, 7208152, 8473391, 8588575, 8615047, 9242515, 9252398, 9375723		★☆☆☆☆ Found in Text Mining only
Placental Steroid Sulfatase Deficiency	Placental Steroid Sulfatase Deficiency	CTD_human_DG	10679952, 14641695, 9623797		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	17426092, 18467089, 23861462, 30649347		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	LHGDN	17426092		★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	20635407, 26994593		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	30072146		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	29901555, 31069759		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16425203, 16541422, 16848908, 22831834, 23219429, 24055520, 25432062, 27045473, 27956712, 28323036, 28528814, 29425687, 30692044, 30807787, 9397200		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12231117		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32928794	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	22975513		★☆☆☆☆ Found in Text Mining only
Recessive X-linked ichthyosis	Ichthyosis, X-Linked	Orphanet			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26093088		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renpenning syndrome 1	Renpenning Syndrome	BEFREE	31411506		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	29067740		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	15498798, 31170172		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	19192274		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	BEFREE	29383831, 30249211, 30737793		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	31595302		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	16435073		★☆☆☆☆ Found in Text Mining only
Smith-Lemli-Opitz Syndrome	Smith-Lemli-Opitz Syndrome	BEFREE	16390921		★☆☆☆☆ Found in Text Mining only
Smith-Magenis syndrome	Smith-Magenis Syndrome	BEFREE	8401506		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	30261268		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	CTD_human_DG	24497646		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	ORPHANET_DG	10583107, 10692123		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	10679952, 12406347, 1539590, 1549475, 1639422, 16504797, 1923309, 24130705, 27003302, 30014053, 3032454, 3034252, 3478297, 6461439, 6584254, 76401, 7903581, 8588575		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	CTD_human_DG	10679952, 14641695, 9623797		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26260914		★☆☆☆☆ Found in Text Mining only
Syndromic recessive X-linked ichthyosis	Syndromic Ichthyosis, X-Linked	ORPHANET_DG	10692123, 15888481, 18076704, 3165728		★☆☆☆☆ Found in Text Mining only
Syndromic recessive X-linked ichthyosis	Syndromic Ichthyosis, X-Linked	Orphanet			★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	BEFREE	28987392		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	2813406		★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
USHER SYNDROME, TYPE IB (disorder)	Usher Syndrome	BEFREE	9070921		★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	28180928, 30941060		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	28148962		★☆☆☆☆ Found in Text Mining only
XX males	XX Males	BEFREE	2301402, 6572129		★☆☆☆☆ Found in Text Mining only