HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4)

Gene

• Entrez ID: 3295
• Gene name: Hydroxysteroid 17-beta dehydrogenase 4
• Gene symbol: HSD17B4
• Synonyms (NCBI Gene): DBP, MFE-2, MFP-2, MPF-2, PRLTS1, SDR8C1
• Chromosome: 5
• Chromosome location: 5q23.1
• Summary: The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branch

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs25640	G>A,C	Pathogenic, benign	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs28943590	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs34254740	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs73790880	A>C,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs137853096	G>A,C	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs137853097	A>G,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs150326995	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs191468413	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs200347945	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant, non coding transcript variant
rs201009485	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs201767875	A>T	Conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs368744809	G>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs369449821	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant, non coding transcript variant
rs374169186	C>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant, 5 prime UTR variant
rs387906825	A>G,T	Pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs546653967	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs587777442	C>T	Pathogenic, uncertain-significance	5 prime UTR variant, missense variant, non coding transcript variant, intron variant, coding sequence variant, synonymous variant
rs587777443	T>C	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs587777444	C>T	Pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs748057401	G>A	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs749532705	G>-	Pathogenic-likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, splice donor variant
rs751646311	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs755412738	G>A	Likely-pathogenic	Splice acceptor variant
rs758055753	TA>-	Pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs765702241	C>G,T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, stop gained, intron variant, missense variant, non coding transcript variant
rs766199971	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs771922933	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, intron variant, non coding transcript variant
rs773305477	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs775766910	A>C,G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs775832137	GA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant
rs776640310	A>C,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs786205574	C>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs794729224	G>T	Likely-pathogenic	Intron variant, non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs863225438	GAGT>-	Pathogenic	Intron variant, splice donor variant
rs886043708	CCAGTAT>AA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs969485098	C>T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1001866915	T>A	Likely-pathogenic	Splice donor variant, intron variant
rs1038744864	T>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057516269	C>G	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1057516273	A>C	Likely-pathogenic	Splice acceptor variant
rs1057516310	ACAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057516312	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057516672	->A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1057516735	T>C,G	Likely-pathogenic	Stop gained, missense variant, coding sequence variant, intron variant, non coding transcript variant
rs1057516750	TTTG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057516859	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057516936	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057516958	G>T	Likely-pathogenic	Splice donor variant, intron variant
rs1057517045	GATA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1057517118	A>C	Likely-pathogenic	Splice acceptor variant
rs1057517152	GTAAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057517323	->GTGT	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057519212	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057519420	CAGAT>AAA	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1085307072	G>A	Likely-pathogenic	5 prime UTR variant, initiator codon variant, missense variant, non coding transcript variant
rs1171426785	A>G,T	Likely-pathogenic	Splice acceptor variant
rs1224475289	G>A,T	Likely-pathogenic	Splice acceptor variant
rs1231357043	T>C	Likely-pathogenic	5 prime UTR variant, splice donor variant
rs1276397342	T>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs1440146478	CGT>-	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1554059509	CAGGTG>-	Likely-pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant, splice donor variant
rs1554062168	G>C	Likely-pathogenic	Splice acceptor variant
rs1554062343	A>G	Likely-pathogenic	Splice acceptor variant
rs1554064083	G>A,T	Likely-pathogenic	Splice acceptor variant
rs1554065254	CTGGAGCTATTGGCCAGAAACTCCCTCCATTTTCTTATGCTTATACGGAACTGGAAGCTATTATGTATGCCCTTGGAGTGGGAGCGTCAATCAAGGATCCAAAAGATTTGAAATTTATTTATGAAGGAAGTTCTGATTTCTCCTGTTTGCCCACCTTCGGAGTTATCATAGGTCAGAAATCTATGATGGGTGGAGGATTAGCAGAAATTCCTGGACTTTCAATCAACTTTGCAAAGG>-	Pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant, splice acceptor variant
rs1554065670	TCTTCATGGAGAGCAGTACTTAGAGTTATATAAACCACTTCCCAGAGCAGGT>-	Pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant, splice acceptor variant
rs1554065671	G>A	Likely-pathogenic	Splice acceptor variant
rs1554066421	A>T	Likely-pathogenic	Splice acceptor variant
rs1554067009	G>A	Pathogenic	Splice acceptor variant
rs1554068134	A>C	Likely-pathogenic	Splice acceptor variant
rs1554068426	GA>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554068960	T>G	Likely-pathogenic	Splice donor variant
rs1554069592	A>G	Likely-pathogenic	Splice acceptor variant
rs1554069610	G>C	Likely-pathogenic	Splice donor variant
rs1561457987	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1561485663	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1580711803	G>A	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT043174	hsa-miR-324-5p	CLASH	23622248
MIRT042372	hsa-miR-484	CLASH	23622248
MIRT440484	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT440484	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT1055426	hsa-miR-1262	CLIP-seq
MIRT1055427	hsa-miR-21	CLIP-seq
MIRT1055428	hsa-miR-298	CLIP-seq
MIRT1055429	hsa-miR-3168	CLIP-seq
MIRT1055430	hsa-miR-331-3p	CLIP-seq
MIRT1055431	hsa-miR-34b	CLIP-seq
MIRT1055432	hsa-miR-3678-3p	CLIP-seq
MIRT1055433	hsa-miR-450b-5p	CLIP-seq
MIRT1055434	hsa-miR-4511	CLIP-seq
MIRT1055435	hsa-miR-455-5p	CLIP-seq
MIRT1055436	hsa-miR-4701-3p	CLIP-seq
MIRT1055437	hsa-miR-4709-3p	CLIP-seq
MIRT1055438	hsa-miR-4773	CLIP-seq
MIRT1055439	hsa-miR-507	CLIP-seq
MIRT1055440	hsa-miR-548b-3p	CLIP-seq
MIRT1055441	hsa-miR-557	CLIP-seq
MIRT1055442	hsa-miR-576-5p	CLIP-seq
MIRT1055443	hsa-miR-590-5p	CLIP-seq
MIRT1055444	hsa-miR-621	CLIP-seq
MIRT1055445	hsa-miR-944	CLIP-seq
MIRT1055426	hsa-miR-1262	CLIP-seq
MIRT1055428	hsa-miR-298	CLIP-seq
MIRT1055432	hsa-miR-3678-3p	CLIP-seq
MIRT1055433	hsa-miR-450b-5p	CLIP-seq
MIRT1055436	hsa-miR-4701-3p	CLIP-seq
MIRT1055437	hsa-miR-4709-3p	CLIP-seq
MIRT2012689	hsa-miR-496	CLIP-seq
MIRT1055439	hsa-miR-507	CLIP-seq
MIRT1055441	hsa-miR-557	CLIP-seq
MIRT1055426	hsa-miR-1262	CLIP-seq
MIRT1055428	hsa-miR-298	CLIP-seq
MIRT1055429	hsa-miR-3168	CLIP-seq
MIRT1055431	hsa-miR-34b	CLIP-seq
MIRT1055432	hsa-miR-3678-3p	CLIP-seq
MIRT1055433	hsa-miR-450b-5p	CLIP-seq
MIRT1055434	hsa-miR-4511	CLIP-seq
MIRT1055436	hsa-miR-4701-3p	CLIP-seq
MIRT1055437	hsa-miR-4709-3p	CLIP-seq
MIRT2012689	hsa-miR-496	CLIP-seq
MIRT1055439	hsa-miR-507	CLIP-seq
MIRT1055440	hsa-miR-548b-3p	CLIP-seq
MIRT1055441	hsa-miR-557	CLIP-seq
MIRT1055442	hsa-miR-576-5p	CLIP-seq
MIRT2547943	hsa-miR-1184	CLIP-seq
MIRT2547944	hsa-miR-1205	CLIP-seq
MIRT1055428	hsa-miR-298	CLIP-seq
MIRT2547945	hsa-miR-3158-5p	CLIP-seq
MIRT1055429	hsa-miR-3168	CLIP-seq
MIRT2547946	hsa-miR-3200-5p	CLIP-seq
MIRT1055430	hsa-miR-331-3p	CLIP-seq
MIRT1055431	hsa-miR-34b	CLIP-seq
MIRT2547947	hsa-miR-3646	CLIP-seq
MIRT2547948	hsa-miR-3647-3p	CLIP-seq
MIRT2547949	hsa-miR-3662	CLIP-seq
MIRT1055432	hsa-miR-3678-3p	CLIP-seq
MIRT2547950	hsa-miR-3679-3p	CLIP-seq
MIRT2547951	hsa-miR-411	CLIP-seq
MIRT2547952	hsa-miR-4503	CLIP-seq
MIRT1055433	hsa-miR-450b-5p	CLIP-seq
MIRT2547953	hsa-miR-4766-5p	CLIP-seq
MIRT1055439	hsa-miR-507	CLIP-seq
MIRT1055441	hsa-miR-557	CLIP-seq
MIRT1055442	hsa-miR-576-5p	CLIP-seq
MIRT2547943	hsa-miR-1184	CLIP-seq
MIRT2547944	hsa-miR-1205	CLIP-seq
MIRT2547945	hsa-miR-3158-5p	CLIP-seq
MIRT1055429	hsa-miR-3168	CLIP-seq
MIRT2547946	hsa-miR-3200-5p	CLIP-seq
MIRT1055430	hsa-miR-331-3p	CLIP-seq
MIRT1055431	hsa-miR-34b	CLIP-seq
MIRT2547947	hsa-miR-3646	CLIP-seq
MIRT2547948	hsa-miR-3647-3p	CLIP-seq
MIRT2547949	hsa-miR-3662	CLIP-seq
MIRT2547950	hsa-miR-3679-3p	CLIP-seq
MIRT2547951	hsa-miR-411	CLIP-seq
MIRT2547952	hsa-miR-4503	CLIP-seq
MIRT1055433	hsa-miR-450b-5p	CLIP-seq
MIRT2547953	hsa-miR-4766-5p	CLIP-seq
MIRT1055439	hsa-miR-507	CLIP-seq
MIRT1055441	hsa-miR-557	CLIP-seq
MIRT1055442	hsa-miR-576-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000038	Process	Very long-chain fatty acid metabolic process	IEA
GO:0001649	Process	Osteoblast differentiation	HDA	16210410
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IBA
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IDA	9089413, 9482850, 10706581, 15060085
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IEA
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IMP	9482850
GO:0004300	Function	Enoyl-CoA hydratase activity	IBA
GO:0004300	Function	Enoyl-CoA hydratase activity	IDA	9482850, 10706581, 15060085
GO:0004303	Function	Estradiol 17-beta-dehydrogenase [NAD(P)+] activity	IDA	7487879
GO:0005777	Component	Peroxisome	IBA
GO:0005777	Component	Peroxisome	IDA	15599942
GO:0005777	Component	Peroxisome	IEA
GO:0005777	Component	Peroxisome	NAS	7487879, 9482850
GO:0005778	Component	Peroxisomal membrane	HDA	21525035
GO:0005782	Component	Peroxisomal matrix	IEA
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IBA
GO:0006635	Process	Fatty acid beta-oxidation	IDA	9482850, 10400999, 10706581, 15060085
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0006636	Process	Unsaturated fatty acid biosynthetic process	IEA
GO:0008209	Process	Androgen metabolic process	IDA	7487879
GO:0008210	Process	Estrogen metabolic process	IDA	7487879
GO:0016020	Component	Membrane	HDA	16210410
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0018812	Function	3-hydroxyacyl-CoA dehydratase activity	IDA	9089413, 9482850, 10400999
GO:0018812	Function	3-hydroxyacyl-CoA dehydratase activity	IEA
GO:0033540	Process	Fatty acid beta-oxidation using acyl-CoA oxidase	IEA
GO:0033989	Function	3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity	IEA
GO:0036109	Process	Alpha-linolenic acid metabolic process	IEA
GO:0036111	Process	Very long-chain fatty-acyl-CoA metabolic process	IDA	9482850
GO:0036112	Process	Medium-chain fatty-acyl-CoA metabolic process	IDA	9089413
GO:0042759	Process	Long-chain fatty acid biosynthetic process	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	9089413, 15644212
GO:0044594	Function	17-beta-hydroxysteroid dehydrogenase (NAD+) activity	IBA
GO:0060009	Process	Sertoli cell development	IEA
GO:0106386	Function	(3R)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IEA
GO:1901570	Process	Fatty acid derivative biosynthetic process	IEA

Other IDs

• MIM: 601860
• HGNC: 5213
• e!Ensembl: ENSG00000133835

Protein

• UniProt ID: P51659
• Protein name: Peroxisomal multifunctional enzyme type 2 (MFE-2) (17-beta-hydroxysteroid dehydrogenase 4) (17-beta-HSD 4) (D-bifunctional protein) (DBP) (Multifunctional protein 2) (MFP-2) (Short chain dehydrogenase/reductase family 8C member 1) [Cleaved into: (3R)-hydr
• Protein function: Bifunctional enzyme acting on the peroxisomal fatty acid beta-oxidation pathway. Catalyzes two of the four reactions in fatty acid degradation: hydration of 2-enoyl-CoA (trans-2-enoyl-CoA) to produce (3R)-3-hydroxyacyl-CoA, and dehydrogenation o
• PDB: 1IKT, 1S9C, 1ZBQ, 6Z1W, 6Z1X, 8AF2, 8AF3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00106	adh_short	10 → 212	short chain dehydrogenase	Domain
  PF01575	MaoC_dehydratas	480 → 601	MaoC like domain	Domain
  PF02036	SCP2	628 → 731	SCP-2 sterol transfer family	Family

• Tissue specificity: TISSUE SPECIFICITY: Present in many tissues with highest concentrations in liver, heart, prostate and testis.
• Sequence:

  MGSPLRFDGRVVLVTGAGAGLGRAYALAFAERGALVVVNDLGGDFKGVGKGSLAADKVVE
  EIRRRGGKAVANYDSVEEGEKVVKTALDAFGRIDVVVNNAGILRDRSFARISDEDWDIIH
  RVHLRGSFQVTRAAWEHMKKQKYGRIIMTSSASGIYGNFGQANYSAAKLGLLGLANSLAI
  EGRKSNIHCNTIAPNAGSRMTQTVMPEDLVEALKPEYVAPLVLWLCHESCEENGGLFEVG
  AGWIGKLRWERTLGAIVRQKNHPMTPEAVKANWKKICDFENASKPQSIQESTGSIIEVLS
  KIDSEGGVSANHTSRATSTATSGFAGAIGQKLPPFSYAYTELEAIMYALGVGASIKDPKD
  LKFIYEGSSDFSCLPTFGVIIGQKSMMGGGLAEIPGLSINFAKVLHGEQYLELYKPLPRA
  GKLKCEAVVADVLDKGSGVVIIMDVYSYSEKELICHNQFSLFLVGSGGFGGKRTSDKVKV
  AVAIPNRPPDAVLTDTTSLNQAALYRLSGDWNPLHIDPNFASLAGFDKPILHGLCTFGFS
  ARRVLQQFADNDVSRFKAIKARFAKPVYPGQTLQTEMWKEGNRIHFQTKVQETGDIVISN
  AYVDLAPTSGTSAKTPSEGGKLQSTFVFEEIGRRLKDIGPEVVKKVNAVFEWHITKGGNI
  GAKWTIDLKSGSGKVYQGPAKGAADTTIILSDEDFMEVVLGKLDPQKAFFSGRLKARGNI
  MLSQKLQMILKDYAKL

• Sequence length: 736

Pathways

KEGG:

Primary bile acid biosynthesis
Biosynthesis of unsaturated fatty acids
Metabolic pathways
Fatty acid metabolism
Peroxisome

Reactome:

Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
alpha-linolenic acid (ALA) metabolism
Beta-oxidation of pristanoyl-CoA
Beta-oxidation of very long chain fatty acids
Peroxisomal protein import

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
Abnormality of the nervous system	Likely pathogenic	rs1554064083	RCV001836844	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bifunctional peroxisomal enzyme deficiency	Likely pathogenic; Pathogenic	rs1749878115, rs1755036404, rs770772281, rs1561456373, rs2126696915, rs958986994, rs2126834942, rs1754083341, rs1754087713, rs2126689896, rs2126684546, rs2126689875, rs2126814260, rs2126896727, rs1561442127, rs746702458, rs1751692890, rs2126790164, rs2126880873, rs2126751711, rs587777443, rs775060894, rs2126896587, rs2126702418, rs2126740125, rs763891697, rs144141837, rs2126806430, rs1198548214, rs2126703227, rs2126703106, rs2126740316, rs1260517680, rs2126790168, rs2126781231, rs371585154, rs2531619781, rs1026521515, rs2531609485, rs2531676301, rs2531676052, rs2531676188, rs2531841219, rs2531840596, rs2531840868, rs2531743142, rs2531912705, rs2531911970, rs2531676170, rs2531841080, rs2531619631, rs2531759953, rs2531599204, rs1561463486, rs2531742054, rs2531741818, rs2531723728, rs2531619533, rs2531912089, rs2531599299, rs2531790065, rs2531610317, rs775766910, rs748057401, rs368744809, rs2531954907, rs773024366, rs775211111, rs2531904772, rs2531905463, rs2531676357, rs2531693353, rs2531704929, rs1554067009, rs2531742954, rs863225438, rs2531743689, rs2531619389, rs2531805137, rs2531628373, rs2531676930, rs1554065670, rs1554065254, rs137853097, rs25640, rs2531598967, rs775832137, rs1085307072, rs1359482508, rs1749873891, rs2531471980, rs2531982920, rs2531912467, rs2531693459, rs2531983649, rs2531599262, rs2531912482, rs2531841327, rs1447689394, rs2531942664, rs2531759797, rs1259152241, rs1171426785, rs2531922658, rs2531724029, rs2531983634, rs2531628522, rs2531983477, rs2531921839, rs2531609558, rs2531724043, rs2531495892, rs1554069610, rs2531471911, rs2531954780, rs2531599625, rs550705310, rs886059821, rs1393411490, rs2531677014, rs1392361503, rs2531953881, rs1291377611, rs2531841267, rs2531610643, rs2531609463, rs2531723063, rs1369305726, rs2531760272, rs772581324, rs2531619562, rs1753554489, rs1561485663, rs2531610056, rs2531472105, rs2531742652, rs1755026740, rs2531741634, rs2531942525, rs2531922377, rs2531912732, rs2531496314, rs2531703971, rs765702241, rs1057516672, rs1057516958, rs1057516310, rs1057516750, rs969485098, rs1057516269, rs1057517118, rs1057516735, rs1057517045, rs1057516273, rs1057516859, rs755412738, rs1057517323, rs1057516936, rs1057516312, rs1057517152, rs766199971, rs758055753, rs1554066421, rs1554068136, rs1554068426, rs1554068134, rs1554068960, rs1554062168, rs1276397342, rs1554062352, rs1554064083, rs1554065671, rs1554069592, rs751646311, rs1554059509, rs1224475289, rs1231357043, rs1554062343, rs1554062814, rs1554068272, rs771510541, rs1561457987, rs749532705, rs1038744864, rs1580711803, rs1488399880, rs1750958514, rs1751933402, rs1753560558, rs1751944228, rs1753477498	RCV002546240 RCV001332424 RCV001377228 RCV001377343 RCV001389499 RCV001382916 RCV001383665 RCV001383934 RCV001388343 RCV001844356 RCV001733822 RCV002541199 RCV003772152 RCV001808897 RCV001991827 RCV001878420 RCV002050089 RCV001969747 RCV001935642 RCV001958823 RCV000672665 RCV001928878 RCV002012201 RCV001878915 RCV002000200 RCV002035453 RCV001962903 RCV002011764 RCV002022920 RCV001975004 RCV001901577 RCV001951440 RCV001959091 RCV001885523 RCV002221866 RCV005225576 RCV002302465 RCV002306493 RCV002306687 RCV002306759 RCV002306761 RCV002306762 RCV002309757 RCV002309918 RCV002307860 RCV002307867 RCV002308155 RCV002308315 RCV002309213 RCV002309214 RCV002309228 RCV002309248 RCV002306883 RCV002306914 RCV002306953 RCV002306993 RCV002307004 RCV002310392 RCV002310476 RCV002310499 RCV002308440 RCV002471514 RCV003317125 RCV002510740 RCV002580362 RCV002518408 RCV002806716 RCV002819051 RCV002834504 RCV002842522 RCV002872175 RCV002877065 RCV002853109 RCV002876699 RCV002894873 RCV002885189 RCV000202368 RCV003008191 RCV003026003 RCV003050391 RCV003046734 RCV003048391 RCV003777656 RCV000008092 RCV000008093 RCV000008095 RCV000008096 RCV000008097 RCV000008098 RCV000490425 RCV003155657 RCV003155872 RCV003225657 RCV003447856 RCV003469843 RCV003469844 RCV003469845 RCV003461740 RCV003469846 RCV003461741 RCV003469847 RCV003469848 RCV003469849 RCV003469850 RCV003461742 RCV003469851 RCV003469852 RCV003461743 RCV003469853 RCV003461744 RCV003469854 RCV003469855 RCV003469856 RCV003469857 RCV003461745 RCV003469858 RCV003469859 RCV003469860 RCV003469861 RCV003469862 RCV003461746 RCV003461747 RCV003793208 RCV003794397 RCV003792277 RCV003808272 RCV003806713 RCV003791836 RCV003805502 RCV003799367 RCV003801417 RCV003796837 RCV003808888 RCV003809231 RCV003817945 RCV003809547 RCV003809641 RCV003812327 RCV003812921 RCV003804989 RCV004576744 RCV004576745 RCV004576747 RCV004576748 RCV004576749 RCV004576750 RCV004576751 RCV004576752 RCV004576753 RCV004595181 RCV000411032 RCV000410199 RCV000412316 RCV000410593 RCV000410752 RCV000409273 RCV000410643 RCV000411180 RCV000412021 RCV000409513 RCV000410433 RCV000410725 RCV000409302 RCV000411356 RCV000410124 RCV000410138 RCV000409725 RCV000411080 RCV002527583 RCV000590157 RCV000984186 RCV000666159 RCV000670512 RCV000670247 RCV000664852 RCV000673786 RCV000668572 RCV000670307 RCV000665075 RCV000673049 RCV000667705 RCV000666626 RCV000669367 RCV000666888 RCV000669845 RCV000664953 RCV000674499 RCV000668345 RCV000665194 RCV000671924 RCV000664831 RCV000671728 RCV000706195 RCV000780347 RCV000780346 RCV000811384 RCV000987593 RCV001065701 RCV001067576 RCV001059831 RCV001221117 RCV001208330 RCV001216554 RCV001251043	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HSD17B4-related disorder	Likely pathogenic; Pathogenic	rs2126696991, rs758055753, rs1001866915, rs749532705	RCV004536352 RCV004530729 RCV004535763 RCV004527810	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Likely pathogenic	rs1554064083	RCV005898631	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Pathogenic	rs886059821	RCV005934924	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic	rs1561456373	RCV005912592	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Perrault syndrome	Likely pathogenic; Pathogenic	rs1749878115, rs770772281, rs1561456373, rs2126696915, rs958986994, rs2126834942, rs1754083341, rs1754087713, rs2126689875, rs2126814260, rs1561442127, rs746702458, rs1751692890, rs2126790164, rs2126880873, rs2126751711, rs587777443, rs775060894, rs2126896587, rs2126702418, rs2126740125, rs763891697, rs144141837, rs2126806430, rs1198548214, rs2126703227, rs2126703106, rs2126740316, rs1260517680, rs2126790168, rs371585154, rs2531610317, rs775766910, rs748057401, rs368744809, rs2531954907, rs773024366, rs775211111, rs2531904772, rs2531905463, rs2531676357, rs2531693353, rs2531704929, rs1554067009, rs2531742954, rs2531743689, rs2531619389, rs2531805137, rs2531628373, rs2531676930, rs137853097, rs2531841327, rs2531495892, rs550705310, rs886059821, rs1393411490, rs2531677014, rs1392361503, rs2531953881, rs1291377611, rs2531841267, rs2531610643, rs2531609463, rs2531723063, rs1369305726, rs2531760272, rs772581324, rs2531619562, rs1753554489, rs1561485663, rs765702241, rs1057516672, rs969485098, rs1057516273, rs755412738, rs1057517323, rs1057516936, rs766199971, rs758055753, rs1554068136, rs1554068426, rs1276397342, rs1554062352, rs1554065671, rs751646311, rs1554062343, rs749532705, rs1038744864, rs1488399880, rs1750958514, rs1751933402, rs1753560558, rs1751944228	RCV002546240 RCV001377228 RCV001377343 RCV001389499 RCV001382916 RCV001383665 RCV001383934 RCV001388343 RCV002541199 RCV003772152 RCV001991827 RCV001878420 RCV002050089 RCV001969747 RCV001935642 RCV001958823 RCV001849905 RCV001928878 RCV002012201 RCV001878915 RCV002000200 RCV002035453 RCV001962903 RCV002011764 RCV002022920 RCV001975004 RCV001901577 RCV001951440 RCV001959091 RCV001885523 RCV005225576 RCV005215934 RCV003765072 RCV002580362 RCV002518408 RCV002806716 RCV002819051 RCV002834504 RCV002842522 RCV002872175 RCV002877065 RCV002853109 RCV002876699 RCV002894873 RCV002885189 RCV003008191 RCV003026003 RCV003050391 RCV003046734 RCV003048391 RCV003777656 RCV000684773 RCV003779043 RCV003779044 RCV003779045 RCV003793208 RCV003794397 RCV003792277 RCV003808272 RCV003806713 RCV003791836 RCV003805502 RCV003799367 RCV003801417 RCV003796837 RCV003808888 RCV003809231 RCV003817945 RCV003809547 RCV003809641 RCV003812327 RCV003812921 RCV003804989 RCV001861399 RCV001861374 RCV000815715 RCV001387756 RCV001861362 RCV001865269 RCV000802983 RCV001053495 RCV002527583 RCV001220352 RCV001387755 RCV003767986 RCV001387832 RCV001861740 RCV001861817 RCV001387366 RCV000805184 RCV003767962 RCV000706195 RCV001040699 RCV000811384 RCV001065701 RCV001067576 RCV001059831 RCV001221117 RCV001208330 RCV001216554	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Perrault syndrome 1	Likely pathogenic; Pathogenic	rs1749878115, rs1755036404, rs1369305726, rs2126696915, rs142527052, rs2126702600, rs587777443, rs2126806430, rs1198548214, rs2126703227, rs2126740316, rs1260517680, rs1307944675, rs1026521515, rs2531609485, rs2531676301, rs2531676052, rs2531676188, rs2531841219, rs2531840596, rs2531840868, rs2531743142, rs2531912705, rs2531911970, rs2531676170, rs2531841080, rs2531619631, rs2531759953, rs2531599204, rs1561463486, rs2531742054, rs2531741818, rs2531723728, rs2531619533, rs2531912089, rs2531599299, rs2531790065, rs786205574, rs775766910, rs137853097, rs1085307072, rs2531759797, rs2531905463, rs2531705048, rs751742258, rs2531912062, rs765702241, rs969485098, rs1057516269, rs1057517045, rs755412738, rs1057516936, rs766199971, rs758055753, rs1554068136, rs771510541, rs749532705, rs1038744864	RCV001645023 RCV004035740 RCV001726506 RCV002246377 RCV001728013 RCV001806366 RCV000125466 RCV005032110 RCV004732495 RCV003989742 RCV002307818 RCV005032025 RCV002250053 RCV002306493 RCV002306687 RCV002306759 RCV002306761 RCV002306762 RCV002309757 RCV002309918 RCV002307860 RCV002307867 RCV002308155 RCV002308315 RCV002309213 RCV002309214 RCV002309228 RCV002309248 RCV002306883 RCV002306914 RCV002306953 RCV002306993 RCV002307004 RCV002310392 RCV002310476 RCV002310499 RCV002308440 RCV003987412 RCV003987413 RCV000477799 RCV000490425 RCV005036810 RCV005036811 RCV003988758 RCV003988793 RCV003990270 RCV005033921 RCV005033919 RCV005044606 RCV002488840 RCV005044613 RCV005033915 RCV000763126 RCV001250093 RCV005034257 RCV001644761 RCV002487606 RCV000023153	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rare genetic deafness	Likely pathogenic; Pathogenic	rs587777443	RCV000825530	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIFUNCTIONAL ENZYME DEFICIENCY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYPTOGENIC WEST SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
D-BIFUNCTIONAL PROTEIN DEFICIENCY	—	CTD, ClinGen, GenCC, HPO CTD, ClinGen, GenCC, HPO CTD, ClinGen, GenCC, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF FATTY ACID METABOLISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL TREMOR	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GONADAL DYSGENESIS XX TYPE DEAFNESS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOMAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERRAULT SYNDROME 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERRAULT SYNDROME 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERRAULT SYNDROME TYPE 1	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERRAULT SYNDROME TYPE 2	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALAAM SEIZURES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WEST SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XX GONADAL DYSGENESIS-DEAFNESS SYNDROME-PROGRESSIVE NEUROLOGICAL MANIFESTATIONS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	31415308		★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	29383116		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	11356171, 24418004		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy, Neonatal	Adrenoleukodystrophy	CTD_human_DG	16385454, 9345094		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	29383116		★☆☆☆☆ Found in Text Mining only
alpha 1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency	BEFREE	21228423		★☆☆☆☆ Found in Text Mining only
Alpha-Methylacyl-CoA Racemase Deficiency	Alpha-Methylacyl-CoA Racemase Deficiency	BEFREE	11992265		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	31122237		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	21844150		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	29383116		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30028862		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	36792583	Inhibit	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	24602372	Associate	★☆☆☆☆ Found in Text Mining only
Ataxias, Hereditary	Ataxia	BEFREE	28830375		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29144802, 30028862		★☆☆☆☆ Found in Text Mining only
Atrophy of corpus callosum	Atrophy Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	12050214, 16868893, 21832969, 26686945		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	21832969	Associate	★☆☆☆☆ Found in Text Mining only
Bartter Disease	Bartter syndrome	BEFREE	24356540		★☆☆☆☆ Found in Text Mining only
Bifunctional enzyme deficiency	Bifunctional Enzyme Deficiency	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	18228528	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	29531242	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28296597, 29050221, 29506214		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19153073, 28186977, 28296597, 29329300, 32968149	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25993554	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25541958	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	38066559	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31659740	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28199497, 28234673, 28253218, 28422891, 28800042, 28886599, 28899889, 29144802, 29189468, 29345215, 30111315, 30744452, 30899285, 31116159, 31335511, 31790053		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	29341299		★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	28830375	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	27979981, 28697009, 30624986, 30744452, 31058800, 31335511, 31415308, 31545431, 31786971		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	30128642		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	36635225	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	27767962		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29320555, 31315567		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	21228423, 30259785		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	28402021, 29955795		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	21832969	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28868548		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21627810		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25428203	Associate	★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28291625, 28343761, 30958967		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	28938338, 29734056		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	28938338, 29734056, 30217423		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28938338, 29734056, 31116159, 31335511		★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptogenic Infantile Spasms	Cryptogenic West syndrome	CTD_human_DG	16919904		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	25109449		★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	23671070	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10576765, 25926504, 26200036, 29137464, 29210861, 31205199		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10576765, 10843180, 25926504, 26200036, 28800042, 29137464, 29210861, 30023362, 30308135, 31205199		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	25926504, 32816832	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	30692241	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	32542627, 32816832	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35766569	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10593571, 15820770, 30692241, 30837950		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10843180, 11230793, 16572495, 20051912, 28387058, 28888576, 30026549, 30261527, 30308135, 30837950, 30913011, 31612146		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	27631001		★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	31415308		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	10328528		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	30572143		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	21129770		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	25503293, 33115767	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	LHGDN	19109932		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	18568692, 28534704		★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	31511022		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	36223880	Associate	★☆☆☆☆ Found in Text Mining only
Fetal ascites	Fetal ascites	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	30103756	Associate	★☆☆☆☆ Found in Text Mining only
Gitelman Syndrome	Gitelman Syndrome	BEFREE	24356540		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	16550607		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35832846	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gonadal dysgenesis XX type deafness	Gonadal Dysgenesis	GENOMICS_ENGLAND_DG	11743515, 2921319		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadal dysgenesis XX type deafness	Gonadal Dysgenesis	BEFREE	20673864, 24602372, 28830375		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadal dysgenesis XX type deafness	Gonadal Dysgenesis	ORPHANET_DG	20673864		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadal dysgenesis XX type deafness	Gonadal Dysgenesis	CLINGEN_DG	20673864, 23181892, 24553428, 24602372, 27790638, 28263850, 28830375		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadal dysgenesis XX type deafness	Gonadal dysgenesis	Pubtator	20673864, 24602372, 26657938, 27087618, 28830375, 37932750	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadal dysgenesis XX type deafness	Gonadal Dysgenesis	CTD_human_DG	25526675		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	BEFREE	12050214, 16868893		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	20673864, 24602372, 33045774, 34719423	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28291625, 28343761, 30958967		★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia	BEFREE	8499951		★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	29465575, 38066559	Associate	★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	BEFREE	30958034		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	10843180, 30819065		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	18568692		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	Pubtator	25350643	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	30972023		★☆☆☆☆ Found in Text Mining only
Hyperpipecolic Acidemia	Hyperpipecolic Acidemia	CTD_human_DG	16385454, 9345094		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	15662218, 17971240, 19304780, 20852445, 23102448, 23591986, 25050807, 25304467, 27654328, 27708284, 27808564, 27846042, 27942709, 27977472, 28129402, 28234673, 28253218, 28267464, 28291625, 28306636, 28318434, 28343761, 28387058, 28391629, 28428231, 28438199, 28444926, 28485264, 28545582, 28817494, 28928111, 29035940, 29210861, 29331891, 29390287, 29398408, 29604170, 29664818, 29939946, 30128642, 30234770, 30247506, 30285504, 30308593, 30398601, 30420645, 30468034, 30572143, 30585785, 30771749, 30801386, 30817451, 30817453, 30819065, 30835575, 30882603, 31038015, 31083159, 31116159, 31162282, 31190479, 31205199, 31386636, 31447226, 31534974, 31545431, 31677122, 31786971, 31790053, 31790069, 31847474, 3344299		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	28460474, 29390287		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	34623748	Associate	★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic Rickets	BEFREE	19304780		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30371241		★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	16919904		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	24602372	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	21832969		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	21832969	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	26962819	Associate	★☆☆☆☆ Found in Text Mining only
Jackknife Seizures	Jackknife Seizures	CTD_human_DG	16919904		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	27767962		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	31659740	Associate	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	28598953, 31205199		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	11356171		★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	33045774	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25448063, 25541958		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28402021, 29955795		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	38066559	Associate	★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	22556021	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16397211, 28296597, 29050221, 29506214		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	21129770		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	28157813		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29917219, 30747222		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19100308, 29346776, 31503357		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29329300, 30138888		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28868548		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	33115767	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	25350643	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28493030, 28740055, 29144802, 29320555, 30184562, 30634516, 30819065		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	29531242	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	12044990, 20007432, 28095044, 28284354		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	18807170, 26046356, 36571271	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	36792583	Inhibit	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	17002564	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	31335511		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	32816832	Inhibit	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	32816832	Associate	★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	BEFREE	11356171		★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29329300, 30747222		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	33045774	Associate	★☆☆☆☆ Found in Text Mining only
Nodding spasm	Spasmus nutans	CTD_human_DG	16919904		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30991275		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	17342072, 24477587, 28012220, 30321217		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	31613643	Inhibit	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	36223880	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	24612500	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	10485974, 12968673, 19488670, 22296203		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	12968673, 17002564, 19488670	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian dysgenesis	Ovarian Dysgenesis	BEFREE	20673864, 24602372		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	22265031		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	24602372	Associate	★☆☆☆☆ Found in Text Mining only
Peroxisomal Disorders	Peroxisomal disorder	Pubtator	31257461, 9345094	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peroxisomal Dysfunction, General	Peroxisomal Dysfunction	CTD_human_DG	16385454, 9345094		★☆☆☆☆ Found in Text Mining only
Peroxisomal Dysfunction, Multiple	Peroxisomal Dysfunction	CTD_human_DG	16385454, 9345094		★☆☆☆☆ Found in Text Mining only
Peroxisomal Dysfunction, Single	Peroxisomal Dysfunction	CTD_human_DG	16385454, 9345094		★☆☆☆☆ Found in Text Mining only
Peroxisome biogenesis disorders	Zellweger Syndrome	BEFREE	29341299		★☆☆☆☆ Found in Text Mining only
Perrault syndrome	Perrault Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PERRAULT SYNDROME 1	Perrault Syndrome	CLINVAR_DG	10400999, 10748062, 16385454, 22864515, 23181892, 25882080, 25967389, 26970254, 27290639, 9482850		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PERRAULT SYNDROME 1	Perrault Syndrome	UNIPROT_DG	20673864		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PERRAULT SYNDROME 1	Perrault Syndrome	GENOMICS_ENGLAND_DG	9915948		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	28278285, 29050221, 30958034		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	22265031		★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	19100308, 29346776		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22542949, 29346776	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	26962819		★☆☆☆☆ Found in Text Mining only
Refsum Disease	Refsum Disease	BEFREE	23622381		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	28157813		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	31641779		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	30048993		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	25109449, 28861004, 29664818		★☆☆☆☆ Found in Text Mining only
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1	Rhizomelic chondrodysplasia punctata	BEFREE	11734571		★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	Pubtator	34623748	Associate	★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	CTD_human_DG	16919904		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scaphycephaly	Scaphocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	34719423	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	28425082, 31686456		★☆☆☆☆ Found in Text Mining only
spasmus nutans	Spasmus nutans	CTD_human_DG	16919904		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	31511022		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	21533548	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	25962507	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	30048226		★☆☆☆☆ Found in Text Mining only
Symptomatic Infantile Spasms	Symptomatic West syndrome	CTD_human_DG	16919904		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	19776291		★☆☆☆☆ Found in Text Mining only
Testicular regression syndrome	Testicular regression syndrome	BEFREE	28923598		★☆☆☆☆ Found in Text Mining only
Thoracic hypoplasia	Thoracic hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	38132395	Inhibit	★☆☆☆☆ Found in Text Mining only
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Trifunctional protein deficiency	Pubtator	31830090	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28362679		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	21844150		★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	30987555, 31830090	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	31083159		★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	36792583	Inhibit	★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	16919904		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
West Syndrome	West Syndrome	CTD_human_DG	16919904		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Zellweger Spectrum	Zellweger Syndrome	CTD_human_DG	10343282		★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	BEFREE	10343282, 16449325, 24418004		★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	CTD_human_DG	10343282		★☆☆☆☆ Found in Text Mining only
Zellweger-Like Syndrome	Zellweger-Like Syndrome	CTD_human_DG	10343282		★☆☆☆☆ Found in Text Mining only