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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	285362
Gene name	Sulfatase modifying factor 1
Gene symbol	SUMF1
Synonyms (NCBI Gene)	AAPA3037FGEUNQ3037
Chromosome	3
Chromosome location	3p26.1
Summary	This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multi

Show/Hide all (25)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852844	G>A,T	Pathogenic	Stop gained, missense variant, intron variant, coding sequence variant
rs137852845	G>A,C	Pathogenic	Stop gained, missense variant, intron variant, coding sequence variant
rs137852846	G>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs137852847	C>T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs137852848	A>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs137852849	G>A,C	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs137852850	A>G	Pathogenic, pathogenic-likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs137852851	A>C	Pathogenic	Initiator codon variant, missense variant
rs137852852	G>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs137852853	C>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs137852854	C>T	Pathogenic	Missense variant, coding sequence variant
rs137852855	T>C	Pathogenic	Initiator codon variant, missense variant
rs146050361	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant
rs387906976	C>A	Pathogenic	Missense variant, coding sequence variant
rs770241913	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs775324176	TACT>-	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs986500427	C>A,G,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1057517363	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793391	T>C	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1085307107	C>T	Pathogenic	Missense variant, coding sequence variant
rs1553575867	A>C	Pathogenic	Stop gained, coding sequence variant
rs1575196325	CT>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant
rs1575197564	C>T	Pathogenic	Stop gained, coding sequence variant
rs1575266004	CCTTTGAGTGCGCGAGTTGCCGCTCTCCGGGTACGGGGCCCGGAGCGTTAGCCTCCCGCGAGTATCGGTGAGCGGCTGCCGAACTGCCATGGGCGCCAGGCCGCTGGGGCGTGCCGCAGCCGCAAGAACCCGCAAGGGACCCCGCGCCCGCACCGGTCCCGGCCTCCTGGCTCCCTGCCGCTCCACACAGCAGCGAGAGCAGCAGCAGCAAGAGGACGAGACCCAGCTCAGGGCAACGTCCACACACCA>-	Likely-pathogenic	Intron variant, splice donor variant, coding sequence variant
rs1575266034	G>C	Pathogenic	Stop gained, coding sequence variant

183

Show/Hide all (183)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019314	hsa-miR-148b-3p	Microarray	17612493
MIRT020442	hsa-miR-106b-5p	Microarray	17242205
MIRT022044	hsa-miR-128-3p	Microarray	17612493
MIRT1402947	hsa-miR-142-5p	CLIP-seq
MIRT1402948	hsa-miR-197	CLIP-seq
MIRT1402949	hsa-miR-299-3p	CLIP-seq
MIRT1402950	hsa-miR-3189-5p	CLIP-seq
MIRT1402951	hsa-miR-337-5p	CLIP-seq
MIRT1402952	hsa-miR-340	CLIP-seq
MIRT1402953	hsa-miR-3682-3p	CLIP-seq
MIRT1402954	hsa-miR-3692	CLIP-seq
MIRT1402955	hsa-miR-371-5p	CLIP-seq
MIRT1402956	hsa-miR-371b-5p	CLIP-seq
MIRT1402957	hsa-miR-4291	CLIP-seq
MIRT1402958	hsa-miR-4310	CLIP-seq
MIRT1402959	hsa-miR-4432	CLIP-seq
MIRT1402960	hsa-miR-4539	CLIP-seq
MIRT1402961	hsa-miR-4648	CLIP-seq
MIRT1402962	hsa-miR-4654	CLIP-seq
MIRT1402963	hsa-miR-4695-3p	CLIP-seq
MIRT1402964	hsa-miR-4769-5p	CLIP-seq
MIRT1402965	hsa-miR-548a-5p	CLIP-seq
MIRT1402966	hsa-miR-548ab	CLIP-seq
MIRT1402967	hsa-miR-548ak	CLIP-seq
MIRT1402968	hsa-miR-548b-5p	CLIP-seq
MIRT1402969	hsa-miR-548c-5p	CLIP-seq
MIRT1402970	hsa-miR-548d-5p	CLIP-seq
MIRT1402971	hsa-miR-548h	CLIP-seq
MIRT1402972	hsa-miR-548i	CLIP-seq
MIRT1402973	hsa-miR-548j	CLIP-seq
MIRT1402974	hsa-miR-548n	CLIP-seq
MIRT1402975	hsa-miR-548w	CLIP-seq
MIRT1402976	hsa-miR-548y	CLIP-seq
MIRT1402977	hsa-miR-559	CLIP-seq
MIRT1402978	hsa-miR-624	CLIP-seq
MIRT1402979	hsa-miR-95	CLIP-seq
MIRT1402980	hsa-miR-106a	CLIP-seq
MIRT1402981	hsa-miR-106b	CLIP-seq
MIRT1402982	hsa-miR-17	CLIP-seq
MIRT1402983	hsa-miR-20a	CLIP-seq
MIRT1402984	hsa-miR-20b	CLIP-seq
MIRT1402985	hsa-miR-3148	CLIP-seq
MIRT1402986	hsa-miR-3189-3p	CLIP-seq
MIRT1402987	hsa-miR-3973	CLIP-seq
MIRT1402988	hsa-miR-3978	CLIP-seq
MIRT1402989	hsa-miR-4251	CLIP-seq
MIRT1402990	hsa-miR-4303	CLIP-seq
MIRT1402991	hsa-miR-4329	CLIP-seq
MIRT1402992	hsa-miR-4422	CLIP-seq
MIRT1402993	hsa-miR-502-5p	CLIP-seq
MIRT1402994	hsa-miR-519a	CLIP-seq
MIRT1402995	hsa-miR-519b-3p	CLIP-seq
MIRT1402996	hsa-miR-519c-3p	CLIP-seq
MIRT1402997	hsa-miR-519d	CLIP-seq
MIRT1402998	hsa-miR-520g	CLIP-seq
MIRT1402999	hsa-miR-520h	CLIP-seq
MIRT1403000	hsa-miR-539	CLIP-seq
MIRT1403001	hsa-miR-577	CLIP-seq
MIRT1403002	hsa-miR-93	CLIP-seq
MIRT1403003	hsa-miR-936	CLIP-seq
MIRT1403004	hsa-miR-133a	CLIP-seq
MIRT1403005	hsa-miR-133b	CLIP-seq
MIRT1402957	hsa-miR-4291	CLIP-seq
MIRT1402958	hsa-miR-4310	CLIP-seq
MIRT1402992	hsa-miR-4422	CLIP-seq
MIRT1402960	hsa-miR-4539	CLIP-seq
MIRT1403006	hsa-miR-4726-3p	CLIP-seq
MIRT1403007	hsa-miR-545	CLIP-seq
MIRT1402980	hsa-miR-106a	CLIP-seq
MIRT1402981	hsa-miR-106b	CLIP-seq
MIRT2120795	hsa-miR-1236	CLIP-seq
MIRT1402947	hsa-miR-142-5p	CLIP-seq
MIRT1402982	hsa-miR-17	CLIP-seq
MIRT1402983	hsa-miR-20a	CLIP-seq
MIRT1402984	hsa-miR-20b	CLIP-seq
MIRT1402949	hsa-miR-299-3p	CLIP-seq
MIRT1402985	hsa-miR-3148	CLIP-seq
MIRT2120796	hsa-miR-3187-3p	CLIP-seq
MIRT1402986	hsa-miR-3189-3p	CLIP-seq
MIRT1402950	hsa-miR-3189-5p	CLIP-seq
MIRT1402952	hsa-miR-340	CLIP-seq
MIRT2120797	hsa-miR-34c-3p	CLIP-seq
MIRT2120798	hsa-miR-369-3p	CLIP-seq
MIRT2120799	hsa-miR-374c	CLIP-seq
MIRT2120800	hsa-miR-3925-5p	CLIP-seq
MIRT1402988	hsa-miR-3978	CLIP-seq
MIRT1402958	hsa-miR-4310	CLIP-seq
MIRT2120801	hsa-miR-4435	CLIP-seq
MIRT2120802	hsa-miR-4529-5p	CLIP-seq
MIRT1402961	hsa-miR-4648	CLIP-seq
MIRT1402962	hsa-miR-4654	CLIP-seq
MIRT2120803	hsa-miR-4666-5p	CLIP-seq
MIRT2120804	hsa-miR-4701-5p	CLIP-seq
MIRT2120805	hsa-miR-4761-5p	CLIP-seq
MIRT1402964	hsa-miR-4769-5p	CLIP-seq
MIRT1402993	hsa-miR-502-5p	CLIP-seq
MIRT1402994	hsa-miR-519a	CLIP-seq
MIRT1402995	hsa-miR-519b-3p	CLIP-seq
MIRT1402996	hsa-miR-519c-3p	CLIP-seq
MIRT1402997	hsa-miR-519d	CLIP-seq
MIRT1402998	hsa-miR-520g	CLIP-seq
MIRT1402999	hsa-miR-520h	CLIP-seq
MIRT2120806	hsa-miR-548s	CLIP-seq
MIRT2120807	hsa-miR-588	CLIP-seq
MIRT2120808	hsa-miR-655	CLIP-seq
MIRT1403002	hsa-miR-93	CLIP-seq
MIRT1402980	hsa-miR-106a	CLIP-seq
MIRT1402981	hsa-miR-106b	CLIP-seq
MIRT2120795	hsa-miR-1236	CLIP-seq
MIRT2342818	hsa-miR-1269	CLIP-seq
MIRT2342819	hsa-miR-1269b	CLIP-seq
MIRT2342820	hsa-miR-1270	CLIP-seq
MIRT2342821	hsa-miR-1288	CLIP-seq
MIRT2342822	hsa-miR-1324	CLIP-seq
MIRT1402982	hsa-miR-17	CLIP-seq
MIRT2342823	hsa-miR-185	CLIP-seq
MIRT2342824	hsa-miR-188-5p	CLIP-seq
MIRT2342825	hsa-miR-1912	CLIP-seq
MIRT2342826	hsa-miR-205	CLIP-seq
MIRT1402983	hsa-miR-20a	CLIP-seq
MIRT1402984	hsa-miR-20b	CLIP-seq
MIRT2342827	hsa-miR-2110	CLIP-seq
MIRT2342828	hsa-miR-219-1-3p	CLIP-seq
MIRT1402949	hsa-miR-299-3p	CLIP-seq
MIRT1402985	hsa-miR-3148	CLIP-seq
MIRT1402986	hsa-miR-3189-3p	CLIP-seq
MIRT1402950	hsa-miR-3189-5p	CLIP-seq
MIRT2342829	hsa-miR-337-3p	CLIP-seq
MIRT1402951	hsa-miR-337-5p	CLIP-seq
MIRT2120797	hsa-miR-34c-3p	CLIP-seq
MIRT2342830	hsa-miR-3685	CLIP-seq
MIRT1402954	hsa-miR-3692	CLIP-seq
MIRT2342831	hsa-miR-377	CLIP-seq
MIRT2342832	hsa-miR-384	CLIP-seq
MIRT2342833	hsa-miR-3938	CLIP-seq
MIRT1402988	hsa-miR-3978	CLIP-seq
MIRT2342834	hsa-miR-4257	CLIP-seq
MIRT2342835	hsa-miR-4268	CLIP-seq
MIRT2342836	hsa-miR-4271	CLIP-seq
MIRT1402957	hsa-miR-4291	CLIP-seq
MIRT2342837	hsa-miR-4306	CLIP-seq
MIRT1402958	hsa-miR-4310	CLIP-seq
MIRT1402992	hsa-miR-4422	CLIP-seq
MIRT2342838	hsa-miR-4448	CLIP-seq
MIRT2342839	hsa-miR-4515	CLIP-seq
MIRT2342840	hsa-miR-4529-3p	CLIP-seq
MIRT2342841	hsa-miR-4531	CLIP-seq
MIRT1402960	hsa-miR-4539	CLIP-seq
MIRT2342842	hsa-miR-4643	CLIP-seq
MIRT2342843	hsa-miR-4644	CLIP-seq
MIRT1402961	hsa-miR-4648	CLIP-seq
MIRT1402962	hsa-miR-4654	CLIP-seq
MIRT2342844	hsa-miR-4667-5p	CLIP-seq
MIRT2342845	hsa-miR-4700-5p	CLIP-seq
MIRT2342846	hsa-miR-4717-3p	CLIP-seq
MIRT2342847	hsa-miR-4725-3p	CLIP-seq
MIRT2342848	hsa-miR-4740-5p	CLIP-seq
MIRT2120805	hsa-miR-4761-5p	CLIP-seq
MIRT1402964	hsa-miR-4769-5p	CLIP-seq
MIRT2342849	hsa-miR-4802-3p	CLIP-seq
MIRT1402993	hsa-miR-502-5p	CLIP-seq
MIRT1402994	hsa-miR-519a	CLIP-seq
MIRT1402995	hsa-miR-519b-3p	CLIP-seq
MIRT1402996	hsa-miR-519c-3p	CLIP-seq
MIRT1402997	hsa-miR-519d	CLIP-seq
MIRT1402998	hsa-miR-520g	CLIP-seq
MIRT1402999	hsa-miR-520h	CLIP-seq
MIRT2342850	hsa-miR-571	CLIP-seq
MIRT2342851	hsa-miR-579	CLIP-seq
MIRT2342852	hsa-miR-620	CLIP-seq
MIRT1402978	hsa-miR-624	CLIP-seq
MIRT2342853	hsa-miR-626	CLIP-seq
MIRT2342854	hsa-miR-7	CLIP-seq
MIRT1403002	hsa-miR-93	CLIP-seq
MIRT1403003	hsa-miR-936	CLIP-seq
MIRT1402979	hsa-miR-95	CLIP-seq
MIRT1402986	hsa-miR-3189-3p	CLIP-seq
MIRT2692436	hsa-miR-124	CLIP-seq
MIRT2692437	hsa-miR-409-3p	CLIP-seq
MIRT1402960	hsa-miR-4539	CLIP-seq
MIRT2692438	hsa-miR-4749-3p	CLIP-seq
MIRT2692439	hsa-miR-506	CLIP-seq
MIRT2692440	hsa-miR-548an	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15962010, 28514442, 33961781
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	18266766, 21224894
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016491	Function	Oxidoreductase activity	TAS
GO:0018158	Process	Protein oxidation	IDA	21224894, 25931126
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	15962010
GO:0043687	Process	Post-translational protein modification	IDA	21224894, 25931126
GO:0043687	Process	Post-translational protein modification	IEA
GO:0043687	Process	Post-translational protein modification	TAS
GO:0046479	Process	Glycosphingolipid catabolic process	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0120147	Function	Formylglycine-generating oxidase activity	IBA
GO:0120147	Function	Formylglycine-generating oxidase activity	IDA	21224894, 25931126
GO:0120147	Function	Formylglycine-generating oxidase activity	IEA
GO:1903135	Function	Cupric ion binding	IDA	25931126

MIM	HGNC	e!Ensembl
607939	20376	ENSG00000144455

Q8NBK3

Protein name

Formylglycine-generating enzyme (FGE) (EC 1.8.3.7) (C-alpha-formylglycine-generating enzyme 1) (Sulfatase-modifying factor 1)

Protein function

Oxidase that catalyzes the conversion of cysteine to 3-oxoalanine on target proteins, using molecular oxygen and an unidentified reducing agent (PubMed:12757706, PubMed:15657036, PubMed:15907468, PubMed:16368756, PubMed:21224894, PubMed:25931126

PDB

1Y1E , 1Y1F , 1Y1G , 1Y1H , 1Y1I , 1Y1J , 1Z70 , 2AFT , 2AFY , 2AII , 2AIJ , 2AIK , 2HI8 , 2HIB , 5SSX , 5SSY , 5SSZ , 8ARU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03781	FGE-sulfatase	87 → 367	Sulfatase-modifying factor enzyme 1	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Highly expressed in kidney, pancreas and liver. Detected at lower levels in leukocytes, lung, placenta, small intestine, skeletal muscle and heart. {ECO:0000269|PubMed:15962010}.

Sequence

MAAPALGLVCGRCPELGLVLLLLLLSLLCGAAGSQEAGTGAGAGSLAGSCGCGTPQRPGA
HGSSAAAHRYSREANAPGPVPGERQLAHSKMVPIPAGVFTMGTDDPQIKQDGEAPARRVT
IDAFYMDAYEVSNTEFEKFVNSTGYLTEAEKFGDSFVFEGMLSEQVKTNIQQAVAAAPWW
LPVKGANWRHPEGPDSTILHRPDHPVLHVSWNDAVAYCTWAGKRLPTEAEWEYSCRGGLH
NRLFPWGNKLQPKGQHYANIWQGEFPVTNTGEDGFQGTAPVDAFPPNGYGLYNIVGNAWE
WTSDWWTVHHSVEETLNPKGPPSGKDRVKKGGSYMCHRSYCYRYRCAARSQNTPDSSASN
LGFRCAADRLPTMD

Sequence length

374

Interactions

View interactions

	KEGG		Reactome
	Lysosome		Glycosphingolipid metabolism The activation of arylsulfatases

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Multiple sulfatase deficiency	Likely pathogenic; Pathogenic	rs772711848, rs1274564118, rs2125176154, rs1215549413, rs2125035926, rs1237016251, rs1702887095, rs2125124343, rs2079966666, rs2124823079, rs1350782911, rs748169616, rs1293658639, rs2124822828, rs867197652 View all (82 more)	RCV001330572 RCV001939841 RCV001379934 RCV001378446 RCV001378911 View all (96 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spinocerebellar ataxia type 15/16	Likely pathogenic; Pathogenic	rs137852847	RCV003992777	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SUMF1-related disorder	Likely pathogenic	rs1349733778	RCV003898856	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (31)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRACTURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLECYSTITIS, ACUTE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL LEFT-SIDED HEART LESIONS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EATING DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOSULFATIDOSIS	—	CTD, ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 15	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (66)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Apnea	Apnea	Pubtator	25516103	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	25222778	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	LHGDN	18579805		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	23715297, 28720891	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	23715297	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30760814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30760814	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Central nervous system demyelination	Central Nervous System Demyelination	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondrodysplasia Punctata	Chondrodysplasia Punctata	BEFREE	29397290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondrodysplasia Punctata	Chondrodysplasia	Pubtator	29397290	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28464818, 30760748		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	37904461	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	30598261		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	30598261	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	25516103	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	28464818	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36856182	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	28698656	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	32048457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	36959582	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	29397290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	23321616		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28720891		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	29397290	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy, Metachromatic	Metachromatic Leukodystrophy	BEFREE	17164773, 29397290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30760814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30760814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidoses	Mucopolysaccharidosis	Pubtator	29397290	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis IV	Mucopolysaccharidosis	Pubtator	29397290	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis Type IIIA	Mucopolysaccharidosis	BEFREE	17725987, 24524415, 26975339		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis, MPS-IV-A	Mucopolysaccharidosis	BEFREE	20716181, 25101330		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	20802204		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	20802204	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple sulfatase deficiency	Multiple Sulfatase Deficiency	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple Sulfatase Deficiency Disease	Multiple Sulfatase Deficiency	BEFREE	12757705, 15146462, 15907468, 16124866, 17657823, 18157819, 21224894, 23321616, 25516103, 25524633, 25885655, 26825355, 28566233, 29048999, 29972788, 30124108, 31195190 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sulfatase Deficiency Disease	Multiple Sulfatase Deficiency	CLINVAR_DG	12757705, 12757706, 15146462, 15907468, 16125993, 17657823, 18157819, 18509892, 21224894, 24339620, 25373814, 25885655, 26825355, 27344646, 27415407		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sulfatase Deficiency Disease	Multiple Sulfatase Deficiency	UNIPROT_DG	12757705, 12757706, 15146462, 18157819, 21224894		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sulfatase Deficiency Disease	Multiple Sulfatase Deficiency	GENOMICS_ENGLAND_DG	12757706, 21224894, 25305402, 27604308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sulfatase Deficiency Disease	Multiple Sulfatase Deficiency	ORPHANET_DG	17657823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sulfatase Deficiency Disease	Multiple Sulfatase Deficiency	CTD_human_DG	17657823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	20802204	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pfaundler-Hurler Syndrome	Pfaundler-Hurler Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Placental Steroid Sulfatase Deficiency	Placental Steroid Sulfatase Deficiency	BEFREE	29397290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	28464818, 30760748	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28720891		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	Spinocerebellar Ataxia	BEFREE	17932120		★★★★★ ★☆☆☆☆ Found in Text Mining only
Splenomegaly	Splenomegaly	Pubtator	25516103	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sulfatidosis, Juvenile, Austin Type	Sulfatidosis	GENOMICS_ENGLAND_DG	12757705		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sulfatidosis, Juvenile, Austin Type	Sulfatidosis	ORPHANET_DG	17657823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sulfatidosis, Juvenile, Austin Type	Sulfatidosis	CTD_human_DG	17657823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	25516103	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SUMF1 (sulfatase modifying factor 1)