SUOX (sulfite oxidase)

Gene

• Entrez ID: 6821
• Gene name: Sulfite oxidase
• Gene symbol: SUOX
• Synonyms (NCBI Gene): -
• Chromosome: 12
• Chromosome location: 12q13.2
• Summary: Sulfite oxidase is a homodimeric protein localized to the intermembrane space of mitochondria. Each subunit contains a heme domain and a molybdopterin-binding domain. The enzyme catalyzes the oxidation of sulfite to sulfate, the final reaction in the oxid

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs76537761	G>A	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121908007	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121908008	C>A	Pathogenic	Coding sequence variant, missense variant
rs121908009	G>A	Pathogenic	Coding sequence variant, missense variant
rs141735896	C>T	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs144064367	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs202085145	G>T	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs747461754	C>G	Pathogenic	Coding sequence variant, stop gained
rs748900391	TG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs770792767	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs773937413	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs776356158	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs781081194	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs794729211	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555198521	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs1565798380	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565799723	CG>AC	Pathogenic	Missense variant, coding sequence variant
rs1565799921	C>T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051024	hsa-miR-17-5p	CLASH	23622248
MIRT551001	hsa-miR-490-3p	PAR-CLIP	21572407
MIRT187727	hsa-miR-4662a-3p	PAR-CLIP	21572407
MIRT551000	hsa-miR-619-3p	PAR-CLIP	21572407
MIRT187720	hsa-miR-196a-5p	PAR-CLIP	21572407
MIRT187723	hsa-miR-196b-5p	PAR-CLIP	21572407
MIRT550999	hsa-miR-4254	PAR-CLIP	21572407
MIRT187713	hsa-let-7a-5p	PAR-CLIP	21572407
MIRT187714	hsa-let-7b-5p	PAR-CLIP	21572407
MIRT187715	hsa-let-7c-5p	PAR-CLIP	21572407
MIRT187716	hsa-let-7d-5p	PAR-CLIP	21572407
MIRT187717	hsa-let-7e-5p	PAR-CLIP	21572407
MIRT187718	hsa-let-7f-5p	PAR-CLIP	21572407
MIRT187721	hsa-let-7g-5p	PAR-CLIP	21572407
MIRT187722	hsa-let-7i-5p	PAR-CLIP	21572407
MIRT187725	hsa-miR-4458	PAR-CLIP	21572407
MIRT187726	hsa-miR-4500	PAR-CLIP	21572407
MIRT187719	hsa-miR-98-5p	PAR-CLIP	21572407
MIRT550998	hsa-miR-185-5p	PAR-CLIP	21572407
MIRT550997	hsa-miR-4306	PAR-CLIP	21572407
MIRT550996	hsa-miR-4644	PAR-CLIP	21572407
MIRT550995	hsa-miR-5192	PAR-CLIP	21572407
MIRT550994	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT551001	hsa-miR-490-3p	PAR-CLIP	21572407
MIRT187727	hsa-miR-4662a-3p	PAR-CLIP	21572407
MIRT551000	hsa-miR-619-3p	PAR-CLIP	21572407
MIRT187720	hsa-miR-196a-5p	PAR-CLIP	21572407
MIRT187723	hsa-miR-196b-5p	PAR-CLIP	21572407
MIRT550999	hsa-miR-4254	PAR-CLIP	21572407
MIRT187713	hsa-let-7a-5p	PAR-CLIP	21572407
MIRT187714	hsa-let-7b-5p	PAR-CLIP	21572407
MIRT187715	hsa-let-7c-5p	PAR-CLIP	21572407
MIRT187716	hsa-let-7d-5p	PAR-CLIP	21572407
MIRT187717	hsa-let-7e-5p	PAR-CLIP	21572407
MIRT187718	hsa-let-7f-5p	PAR-CLIP	21572407
MIRT187721	hsa-let-7g-5p	PAR-CLIP	21572407
MIRT187722	hsa-let-7i-5p	PAR-CLIP	21572407
MIRT187725	hsa-miR-4458	PAR-CLIP	21572407
MIRT187726	hsa-miR-4500	PAR-CLIP	21572407
MIRT187719	hsa-miR-98-5p	PAR-CLIP	21572407
MIRT550998	hsa-miR-185-5p	PAR-CLIP	21572407
MIRT550997	hsa-miR-4306	PAR-CLIP	21572407
MIRT550996	hsa-miR-4644	PAR-CLIP	21572407
MIRT550995	hsa-miR-5192	PAR-CLIP	21572407
MIRT550994	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT1403481	hsa-miR-5096	CLIP-seq
MIRT1403482	hsa-miR-640	CLIP-seq
MIRT2120886	hsa-miR-4473	CLIP-seq
MIRT2120887	hsa-miR-4476	CLIP-seq
MIRT2120888	hsa-miR-512-3p	CLIP-seq
MIRT2120889	hsa-miR-520f	CLIP-seq
MIRT2120890	hsa-miR-548p	CLIP-seq
MIRT2636836	hsa-miR-1225-5p	CLIP-seq
MIRT2636837	hsa-miR-1245b-5p	CLIP-seq
MIRT2636838	hsa-miR-1262	CLIP-seq
MIRT2636839	hsa-miR-135a	CLIP-seq
MIRT2636840	hsa-miR-135b	CLIP-seq
MIRT2636841	hsa-miR-194	CLIP-seq
MIRT2636842	hsa-miR-203	CLIP-seq
MIRT2636843	hsa-miR-3064-3p	CLIP-seq
MIRT2636844	hsa-miR-3142	CLIP-seq
MIRT2636845	hsa-miR-3177-5p	CLIP-seq
MIRT2636846	hsa-miR-3189-3p	CLIP-seq
MIRT2636847	hsa-miR-34a	CLIP-seq
MIRT2636848	hsa-miR-34c-5p	CLIP-seq
MIRT2636849	hsa-miR-3689d	CLIP-seq
MIRT2636850	hsa-miR-380	CLIP-seq
MIRT2636851	hsa-miR-3921	CLIP-seq
MIRT2636852	hsa-miR-3922-5p	CLIP-seq
MIRT2636853	hsa-miR-3925-3p	CLIP-seq
MIRT2636854	hsa-miR-3941	CLIP-seq
MIRT2120886	hsa-miR-4473	CLIP-seq
MIRT2120887	hsa-miR-4476	CLIP-seq
MIRT2636855	hsa-miR-4493	CLIP-seq
MIRT2636856	hsa-miR-4495	CLIP-seq
MIRT2636857	hsa-miR-449a	CLIP-seq
MIRT2636858	hsa-miR-449b	CLIP-seq
MIRT2636859	hsa-miR-4539	CLIP-seq
MIRT2636860	hsa-miR-4643	CLIP-seq
MIRT2636861	hsa-miR-4653-5p	CLIP-seq
MIRT2636862	hsa-miR-466	CLIP-seq
MIRT2636863	hsa-miR-4672	CLIP-seq
MIRT2636864	hsa-miR-4694-3p	CLIP-seq
MIRT2636865	hsa-miR-4701-3p	CLIP-seq
MIRT2636866	hsa-miR-4747-5p	CLIP-seq
MIRT2636867	hsa-miR-4753-5p	CLIP-seq
MIRT2636868	hsa-miR-4768-5p	CLIP-seq
MIRT2636869	hsa-miR-4789-3p	CLIP-seq
MIRT2636870	hsa-miR-4802-5p	CLIP-seq
MIRT2636871	hsa-miR-4803	CLIP-seq
MIRT2636872	hsa-miR-488	CLIP-seq
MIRT2636873	hsa-miR-493	CLIP-seq
MIRT1403481	hsa-miR-5096	CLIP-seq
MIRT2120888	hsa-miR-512-3p	CLIP-seq
MIRT2120889	hsa-miR-520f	CLIP-seq
MIRT2120890	hsa-miR-548p	CLIP-seq
MIRT2636874	hsa-miR-583	CLIP-seq
MIRT2636875	hsa-miR-636	CLIP-seq
MIRT1403482	hsa-miR-640	CLIP-seq
MIRT2636876	hsa-miR-766	CLIP-seq
MIRT2636877	hsa-miR-890	CLIP-seq
MIRT2636836	hsa-miR-1225-5p	CLIP-seq
MIRT2636837	hsa-miR-1245b-5p	CLIP-seq
MIRT2636838	hsa-miR-1262	CLIP-seq
MIRT2636839	hsa-miR-135a	CLIP-seq
MIRT2636840	hsa-miR-135b	CLIP-seq
MIRT2636841	hsa-miR-194	CLIP-seq
MIRT2636842	hsa-miR-203	CLIP-seq
MIRT2636843	hsa-miR-3064-3p	CLIP-seq
MIRT2636844	hsa-miR-3142	CLIP-seq
MIRT2636845	hsa-miR-3177-5p	CLIP-seq
MIRT2636846	hsa-miR-3189-3p	CLIP-seq
MIRT2636847	hsa-miR-34a	CLIP-seq
MIRT2636848	hsa-miR-34c-5p	CLIP-seq
MIRT2636849	hsa-miR-3689d	CLIP-seq
MIRT2636850	hsa-miR-380	CLIP-seq
MIRT2636851	hsa-miR-3921	CLIP-seq
MIRT2636852	hsa-miR-3922-5p	CLIP-seq
MIRT2636853	hsa-miR-3925-3p	CLIP-seq
MIRT2636854	hsa-miR-3941	CLIP-seq
MIRT2120886	hsa-miR-4473	CLIP-seq
MIRT2120887	hsa-miR-4476	CLIP-seq
MIRT2636855	hsa-miR-4493	CLIP-seq
MIRT2636856	hsa-miR-4495	CLIP-seq
MIRT2636857	hsa-miR-449a	CLIP-seq
MIRT2636858	hsa-miR-449b	CLIP-seq
MIRT2636859	hsa-miR-4539	CLIP-seq
MIRT2636860	hsa-miR-4643	CLIP-seq
MIRT2636861	hsa-miR-4653-5p	CLIP-seq
MIRT2636862	hsa-miR-466	CLIP-seq
MIRT2636863	hsa-miR-4672	CLIP-seq
MIRT2636864	hsa-miR-4694-3p	CLIP-seq
MIRT2636865	hsa-miR-4701-3p	CLIP-seq
MIRT2636866	hsa-miR-4747-5p	CLIP-seq
MIRT2636867	hsa-miR-4753-5p	CLIP-seq
MIRT2636868	hsa-miR-4768-5p	CLIP-seq
MIRT2636869	hsa-miR-4789-3p	CLIP-seq
MIRT2636870	hsa-miR-4802-5p	CLIP-seq
MIRT2636871	hsa-miR-4803	CLIP-seq
MIRT2636872	hsa-miR-488	CLIP-seq
MIRT2636873	hsa-miR-493	CLIP-seq
MIRT2120888	hsa-miR-512-3p	CLIP-seq
MIRT2120889	hsa-miR-520f	CLIP-seq
MIRT2120890	hsa-miR-548p	CLIP-seq
MIRT2636874	hsa-miR-583	CLIP-seq
MIRT2636875	hsa-miR-636	CLIP-seq
MIRT1403482	hsa-miR-640	CLIP-seq
MIRT2636876	hsa-miR-766	CLIP-seq
MIRT2636877	hsa-miR-890	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25910212, 32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006790	Process	Sulfur compound metabolic process	IBA
GO:0006790	Process	Sulfur compound metabolic process	IEA
GO:0008482	Function	Sulfite oxidase activity	IBA
GO:0008482	Function	Sulfite oxidase activity	IEA
GO:0008482	Function	Sulfite oxidase activity	TAS	9428520
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0020037	Function	Heme binding	IBA
GO:0020037	Function	Heme binding	IEA
GO:0030151	Function	Molybdenum ion binding	IEA
GO:0043546	Function	Molybdopterin cofactor binding	IBA
GO:0043546	Function	Molybdopterin cofactor binding	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 606887
• HGNC: 11460
• e!Ensembl: ENSG00000139531

Protein

• UniProt ID: P51687
• Protein name: Sulfite oxidase, mitochondrial (EC 1.8.3.1)
• Protein function: Catalyzes the oxidation of sulfite to sulfate, the terminal reaction in the oxidative degradation of sulfur-containing amino acids.
• PDB: 1MJ4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00173	Cyt-b5	86 → 161	Cytochrome b5-like Heme/Steroid binding domain	Domain
  PF00174	Oxidored_molyb	219 → 395	Oxidoreductase molybdopterin binding domain	Domain
  PF03404	Mo-co_dimer	417 → 544	Mo-co oxidoreductase dimerisation domain	Domain

• Sequence:

  MLLLHRAVVLRLQQACRLKSIPSRICIQACSTNDSFQPQRPSLTFSGDNSSTQGWRVMGT
  LLGLGAVLAYQDHRCRAAQESTHIYTKEEVSSHTSPETGIWVTLGSEVFDVTEFVDLHPG
  GPSKLMLAAGGPLEPFWALYAVHNQSHVRELLAQYKIGELNPEDKVAPTVETSDPYADDP
  VRHPALKVNSQRPFNAEPPPELLTENYITPNPIFFTRNHLPVPNLDPDTYRLHVVGAPGG
  QSLSLSLDDLHNFPRYEITVTLQCAGNRRSEMTQVKEVKGLEWRTGAISTARWAGARLCD
  VLAQAGHQLCETEAHVCFEGLDSDPTGTAYGASIPLARAMDPEAEVLLAYEMNGQPLPRD
  HGFPVRVVVPGVVGARHVKWLGRVSVQPEESYSHWQRRDYKGFSPSVDWETVDFDSAPSI
  QELPVQSAITEPRDGETVESGEVTIKGYAWSGGGRAVIRVDVSLDGGLTWQVAKLDGEEQ
  RPRKAWAWRLWQLKAPVPAGQKELNIVCKAVDDGYNVQPDTVAPIWNLRGVLSNAWHRVH
  VYVSP

• Sequence length: 545

Pathways

KEGG:

Sulfur metabolism
Metabolic pathways

Reactome:

Sulfide oxidation to sulfate

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
Sulfite oxidase deficiency	Pathogenic; Likely pathogenic	rs1175117475, rs144469629, rs1890630965, rs1890663087, rs2136509616, rs780603746, rs770496917, rs1451449404, rs1460210127, rs2136513040, rs2136509843, rs2136513148, rs2136512310, rs777114729, rs121908007, rs121908009, rs1890663871, rs1370270518, rs1171191979, rs794729211, rs766949012, rs2540574261, rs1372045486, rs1565798201, rs1273768268, rs1314125524, rs2540576131, rs2540575955, rs1890579284, rs1890661164, rs1592829198, rs2540578127, rs2540577903, rs2136513432, rs758923989, rs988221869, rs2540577060, rs1389312412, rs1890558787, rs2540577777, rs2540575913, rs2540573705, rs2540577829, rs2540577678, rs2540576238, rs2540575551, rs1446408066, rs2540578061, rs2540575967, rs867210538, rs1555198521, rs773937413, rs748900391, rs1565798380, rs747461754, rs776356158, rs770792767, rs773655286, rs1435587153, rs778431071, rs1890647333, rs776690106, rs1890688726, rs757559168, rs370951378	RCV002254649 RCV002254650 RCV001783833 RCV001849579 RCV001945266 RCV001895567 RCV001912914 RCV001912933 RCV001938122 RCV001943502 RCV001916540 RCV001963653 RCV002251710 RCV003062521 RCV000698394 RCV000758702 RCV003088099 RCV002611779 RCV002628974 RCV000184031 RCV002821022 RCV003035727 RCV003040667 RCV003638911 RCV005103902 RCV003638952 RCV003524196 RCV003524263 RCV003522256 RCV003523584 RCV003523728 RCV003524744 RCV003524820 RCV003522853 RCV003639425 RCV003639006 RCV003639045 RCV003639795 RCV003639878 RCV003639909 RCV003640050 RCV003640101 RCV003640207 RCV003640233 RCV003638231 RCV003638147 RCV003640340 RCV003638159 RCV003639344 RCV003878069 RCV002254556 RCV002254557 RCV005870838 RCV000758699 RCV000758701 RCV000791011 RCV000988864 RCV002254598 RCV001196618 RCV002254601 RCV001257120 RCV002290677 RCV001270364 RCV001280525 RCV001293327	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sulfocysteinuria	Pathogenic; Likely pathogenic	rs780603746, rs121908009, rs781351306, rs1273768268, rs748900391, rs776356158, rs770792767, rs776690106, rs757559168	RCV003323943 RCV005237349 RCV003226676 RCV003324367 RCV003155304 RCV004800586 RCV002282418 RCV003492239 RCV003387988	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SUOX-related disorder	Pathogenic; Likely pathogenic	rs1175117475, rs780603746, rs1314125524, rs2540575955, rs748900391, rs1890688726	RCV004731142 RCV004756309 RCV003410568 RCV003901114 RCV004756029 RCV003405479	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ 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
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMMON VARIABLE IMMUNODEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASAL CAVITY POLYP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	33417599	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26301688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anorexia	Anorexia	Pubtator	33417599	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	27898717	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit and Disruptive Behavior Disorders	Attention deficit hyperactivity disorder	Pubtator	28629418	Associate	★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1	Autoimmune Diseases	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	Autoimmune Diseases	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Brain Diseases Metabolic Inborn	Brain disease	Pubtator	24968320	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	GWASCAT_DG	26301688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Combined molybdoflavoprotein enzyme deficiency	Combined molybdoflavoprotein enzyme deficiency	BEFREE	12533804, 19544009, 23203137, 27106218		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	GWASCAT_DG	26301688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Convulsions in the newborn	Convulsions	BEFREE	12471057		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	33417599	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	22144904, 22403184	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	22144904, 22403184		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia Lentis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalomalacia	Encephalomalacia	BEFREE	19793632		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	33402469	Associate	★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	12533804		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28544736		★☆☆☆☆ Found in Text Mining only
Isolated sulfite oxidase deficiency	Isolated sulfite oxidase deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30631948		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	29280012		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	33417599	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	22403184	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	33417599	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	25904635, 27217259		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	25904635, 27217259, 33664499	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	BEFREE	30631948		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	26301688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Respiratory Tract Diseases	Respiratory Tract Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	24390342, 30423114		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	24390342		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	33417599	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Degeneration	Spinocerebellar Degeneration	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	29280012		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	33402469	Associate	★☆☆☆☆ Found in Text Mining only
Sulfite oxidase deficiency	Sulfite Oxidase Deficiency	GENOMICS_ENGLAND_DG	12112661		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sulfite oxidase deficiency	Sulfite Oxidase Deficiency	CLINGEN_DG	12112661, 15952210, 16140720, 27289259, 28725568, 28980090, 9050047, 9600976		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sulfite oxidase deficiency	Sulfite Oxidase Deficiency	BEFREE	26171830, 31127934		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sulfite oxidase deficiency	Sulfite Oxidase Deficiency	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sulfite oxidase deficiency	Sulfite Oxidase Deficiency	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sulfite oxidase deficiency	Sulfite Oxidase Deficiency	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sulfocysteinuria	Sulfocysteinuria	UNIPROT_DG	10519592, 12112661, 12368985, 9428520, 9600976		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sulfocysteinuria	Sulfocysteinuria	CLINVAR_DG	10519592, 12112661, 12368985, 15952210, 23994568, 24938149, 28629418, 9428520, 9600976		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sulfocysteinuria	Sulfocysteinuria	GENOMICS_ENGLAND_DG	12112661		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sulfocysteinuria	Sulfocysteinuria	BEFREE	12533804, 15952210, 28629418, 31127934, 31806255		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sulfocysteinuria	Sulfocysteinuria	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sulfocysteinuria	Sulfocysteinuria	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tongue Neoplasms	Tongue Neoplasms	BEFREE	29280012		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26301688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations