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HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4)

Gene

3295

Hydroxysteroid 17-beta dehydrogenase 4

HSD17B4

DBP, MFE-2, MFP-2, MPF-2, PRLTS1, SDR8C1

5q23.1

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

Show/Hide all(77)

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

Show/Hide all(85)

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

Show/Hide all(30)

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	3-hydroxyacyl-CoA dehydrogenase activity	IBA	21873635
GO:0003857	Function	3-hydroxyacyl-CoA dehydrogenase activity	IDA	9089413, 9482850, 10706581, 15060085
GO:0004300	Function	Enoyl-CoA hydratase activity	IBA	21873635
GO:0004300	Function	Enoyl-CoA hydratase activity	IDA	9482850, 10706581, 15060085
GO:0005777	Component	Peroxisome	IBA	21873635
GO:0005777	Component	Peroxisome	IDA	15599942
GO:0005777	Component	Peroxisome	NAS	7487879, 9482850
GO:0005778	Component	Peroxisomal membrane	HDA	21525035
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006625	Process	Protein targeting to peroxisome	TAS
GO:0006635	Process	Fatty acid beta-oxidation	IBA	21873635
GO:0006635	Process	Fatty acid beta-oxidation	IDA	9482850, 10400999, 10706581, 15060085
GO:0006699	Process	Bile acid biosynthetic process	TAS
GO:0008209	Process	Androgen metabolic process	IDA	7487879
GO:0008210	Process	Estrogen metabolic process	IDA	7487879
GO:0016020	Component	Membrane	HDA	16210410
GO:0016508	Function	Long-chain-enoyl-CoA hydratase activity	IDA	9089413, 9482850, 10400999
GO:0016853	Function	Isomerase activity	IEA
GO:0033540	Process	Fatty acid beta-oxidation using acyl-CoA oxidase	TAS
GO:0033989	Function	3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity	IEA
GO:0036109	Process	Alpha-linolenic acid metabolic process	TAS
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:0042803	Function	Protein homodimerization activity	IDA	9089413, 15644212
GO:0044594	Function	17-beta-hydroxysteroid dehydrogenase (NAD+) activity	IBA	21873635
GO:0044594	Function	17-beta-hydroxysteroid dehydrogenase (NAD+) activity	IDA	7487879
GO:0060009	Process	Sertoli cell development	IEA

MIM	HGNC	e!Ensembl
601860	5213	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

Sequence

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

Sequence length

736

Interactions

View interactions

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

Show/Hide Causal Diseases (15)

Causal
Disease name	Disease term	dbSNP ID	References
Adrenoleukodystrophy	Adrenoleukodystrophy, Neonatal	rs128624213, rs128624214, rs1569541109, rs128624215, rs128624216, rs128624217, rs128624218, rs128624219, rs128624220, rs128624221, rs387906494, rs128624222, rs128624223, rs387906495, rs128624224, rs1569541096, rs2147483647, rs128624225, rs11146842, rs4010613, rs387906496, rs1569541198, rs1569540743, rs387906497, rs193922093, rs193922097, rs193922098, rs398123100, rs398123102, rs398123105, rs398123106, rs398123107, rs398123108, rs398123110, rs398123111, rs398123112, rs713993050, rs201568579, rs150346282, rs797044610, rs797044625, rs797044726, rs864309520, rs886044777, rs1057516052, rs1057517954, rs1064793877, rs1131691916, rs1131691743, rs1557054318, rs1557054153, rs1557052302, rs1557052362, rs1557054873, rs1557055340, rs1557052530, rs1557055392, rs1557052171, rs1557054875, rs1557052294, rs1557052390, rs1557052397, rs1557054210, rs1170974058, rs727503786, rs1557055405, rs1557055311, rs1557052555, rs1557052133, rs1159943880, rs1557054776, rs1557052351, rs1557055253, rs1557055398, rs1557052573, rs1557055260, rs1292006620, rs1569540693, rs782266592, rs1557055316, rs1569540676, rs1569541115, rs1569541000, rs1569541088, rs1569541203, rs1569540688, rs1569540883, rs1569541009, rs1569540665, rs1569540695, rs1569540704, rs1569541006, rs781862879, rs1557055337, rs1569541207, rs1603235321, rs1603231653, rs1603231784, rs1603231897, rs1603232111, rs1603232195, rs1603232243, rs1603233089, rs1603233113, rs1603234451, rs1603234759, rs1603235901, rs1603236012, rs1603235263, rs1603235389, rs1603231911, rs1603233120, rs1603234501, rs1603236020, rs1603231848, rs1603232237, rs1603234466, rs1603235267, rs1603235421, rs1603235941, rs1603234574, rs1603236013, rs2091702389, rs2091711094, rs2091711370, rs782509393, rs2091726671, rs2091726809, rs1557054173, rs2091749146, rs2091762383, rs2091763089, rs2091764526, rs2091764754, rs2091774046, rs2091775068, rs2091727061, rs2091708827, rs2091774163, rs2091726242	16385454, 9345094
Bifunctional enzyme deficiency	Bifunctional enzyme deficiency	rs1554065670, rs1554065254, rs137853097, rs25640, rs775832137, rs587777443, rs775766910, rs368744809, rs863225438, rs765702241, rs1057516672, rs1057516958, rs1057516310, rs1057516750, rs969485098, rs1057516269, rs1057517118, rs1057516735, rs1057517045, rs1057516273, rs1057516859, rs755412738, rs1057517323, rs1057516936, rs1057516312, rs1057517152, rs766199971, rs758055753, rs1554066421, rs1554068136, rs1554068426, rs1554068134, rs1554068960, rs1554069610, rs1554062168, rs1276397342, rs1554064083, rs1554065671, rs1554069592, rs751646311, rs1554059509, rs1224475289, rs1231357043, rs1554062343, rs1171426785, rs1561457987, rs749532705, rs1038744864, rs1580711803
Cholestasis	Cholestasis	rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Perrault syndrome	PERRAULT SYNDROME 1, Perrault syndrome	rs397515410, rs398123033, rs398123034, rs398123035, rs199589947, rs398123036, rs398123037, rs587777443, rs786205560, rs786205574, rs775766910, rs864309643, rs376177973, rs201392711, rs1131692170, rs776171893, rs774649299, rs766199971, rs1555719766, rs1559484149, rs1562047621, rs754069818, rs778499309, rs1169927428, rs1038744864, rs536853368, rs770440975, rs1575292827, rs1599193093, rs2091852209	25967389, 22864515, 9915948, 9482850, 10748062, 10400999, 16385454, 20673864, 27290639, 26970254, 23181892, 25882080
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937
Renal cyst	Simple renal cyst	rs376586707, rs431905522, rs1057518761, rs1555454411, rs140039128, rs1567413573
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
West syndrome	West Syndrome	rs267606715, rs267608421, rs727503974, rs786205598, rs794727152, rs796053134, rs796053162, rs1057517854, rs267608618, rs1555952078, rs1555954752, rs749975104	16919904
Zellweger syndrome	Zellweger Spectrum, Zellweger Syndrome	rs62641228, rs28940308, rs61752129, rs74315506, rs61752133, rs267608190, rs61752117, rs267608185, rs267608183, rs61752095, rs61750434, rs61750435, rs61750420, rs121434455, rs1554372074, rs61750415, rs61752116, rs104893661, rs104894616, rs61752103, rs28936697, rs61752097, rs202143236, rs28936698, rs1805137, rs121909151, rs121909152, rs121909153, rs63535662, rs148591292, rs121909154, rs61753238, rs61753233, rs267608213, rs112298166, rs62641231, rs1554128347, rs61752138, rs61752137, rs61752123, rs61752119, rs1571138735, rs387906809, rs1590793006, rs397514472, rs267608252, rs62653611, rs397515419, rs398123301, rs398123302, rs398123303, rs398123305, rs398123409, rs61752122, rs61752128, rs61752127, rs724159999, rs724160000, rs724160002, rs61752092, rs724160029, rs727504076, rs267608254, rs764346452, rs61753245, rs769836601, rs267608180, rs267608179, rs61750426, rs61750423, rs61750414, rs61750418, rs786204606, rs786204743, rs786204638, rs749067142, rs786204544, rs786204704, rs776731688, rs786205655, rs786205656, rs267608241, rs794729652, rs797045062, rs61753219, rs863225083, rs370483961, rs756876301, rs61753224, rs267608216, rs61750427, rs886037783, rs869312935, rs774131564, rs878853044, rs61750422, rs886041314, rs62641225, rs886043479, rs886043558, rs764771123, rs886044436, rs61752093, rs369965266, rs62636519, rs1057516882, rs763514968, rs62653604, rs1057516827, rs1057516989, rs1057517257, rs778862698, rs1057517467, rs1057517480, rs759183382, rs1057517509, rs1057517518, rs1057517531, rs762324548, rs1057517481, rs1057517472, rs1057517484, rs1057517503, rs1057517485, rs1057517470, rs1057517499, rs1057517468, rs61750412, rs1057517486, rs1057517529, rs1057517464, rs1057517478, rs267608176, rs1057517489, rs1057517490, rs1057517469, rs754983126, rs1057517497, rs1057517463, rs1057517520, rs61750406, rs1057517465, rs1057517488, rs1057517505, rs1057517522, rs149806989, rs1057517506, rs1057517479, rs1057517500, rs1057517487, rs1028247729, rs766020928, rs1057517501, rs267608188, rs61752107, rs62642859, rs144259891, rs61752113, rs1057519507, rs62641229, rs201179294, rs1064794320, rs1064793563, rs61752102, rs1258472160, rs62636524, rs760739894, rs781984979, rs781939614, rs1554366802, rs1554372756, rs61753230, rs1554127491, rs763459576, rs267608227, rs61750428, rs1556586479, rs1010184002, rs61753209, rs61752100, rs1190462422, rs1235008965, rs1438831421, rs1473858573, rs768893724, rs1553231820, rs1325771720, rs1553231739, rs1335685844, rs1553231896, rs867305222, rs1553232917, rs1553231787, rs1554127533, rs1554328952, rs61753248, rs267608242, rs1554127383, rs267608229, rs1554128501, rs1491384052, rs61753229, rs1443107232, rs766483138, rs1554127415, rs63749004, rs61753212, rs1554128461, rs1160117945, rs1554368097, rs767877383, rs1554370868, rs1554373787, rs762852144, rs1554376597, rs762679408, rs1554366766, rs1554367358, rs1256376226, rs1554369234, rs1478905473, rs1554372180, rs1554375511, rs61750409, rs1554372561, rs1554373578, rs1554367284, rs61750425, rs1398892633, rs61750407, rs1554373801, rs1554375599, rs1554375661, rs866144313, rs61752124, rs1554584505, rs749650201, rs1555549841, rs1199283977, rs1555549855, rs767447750, rs747099919, rs1238451790, rs754193088, rs888633730, rs904972651, rs764657253, rs61752108, rs61752106, rs61752105, rs1555549876, rs765404768, rs267608184, rs1555549754, rs1562846113, rs769772100, rs369851185, rs553968959, rs781475201, rs1561823098, rs866184460, rs1559035738, rs267608249, rs894289737, rs1562846257, rs778871894, rs752904598, rs1557910651, rs62653602, rs1561830903, rs1565673352, rs267608193, rs1557910202, rs61753225, rs61752140, rs61750417, rs1567730901, rs755716911, rs1562857198, rs1585260993, rs1554126955, rs201306028, rs1585231093, rs1585254187, rs63545361, rs1586069639, rs1586070043, rs1586070089, rs267608253, rs1582744649, rs1585224312, rs1581760572, rs61753211, rs201415996, rs1582757650, rs764924345, rs267608178, rs751829426, rs1585214453, rs1585238595, rs1585244586, rs1774099032, rs62641232, rs1178535907, rs1312351030, rs1792186595, rs756891007, rs1290469936, rs1641167602, rs773406384, rs1792018845, rs770447891	10343282

Show/Hide Unknown Diseases (28)

Unknown
Disease name	Disease term	dbSNP ID	References
Addison`s disease	Addison Disease
Atrophy of corpus callosum	Atrophy of corpus callosum
Congenital clubfoot	Congenital clubfoot
Congenital epicanthus	Congenital Epicanthus
Congenital pectus excavatum	Congenital pectus excavatum
Cortical dysplasia	Cortical Dysplasia
Cryptogenic west syndrome	Cryptogenic Infantile Spasms		16919904
Dolichocephaly	Long narrow head
Dwarfism	Dwarfism
Fatty liver	Fatty Liver, Steatohepatitis
Fetal ascites	Fetal ascites
Frontal bossing	Frontal bossing
Gonadal dysgenesis	Gonadal Dysgenesis, Gonadal dysgenesis XX type deafness		27790638, 28830375, 11743515, 23181892, 20673864, 25526675, 2921319, 28263850, 24553428, 24602372
High palate	Byzanthine arch palate
Hyperpipecolic acidemia	Hyperpipecolic Acidemia		9345094, 16385454
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Jackknife seizures	Jackknife Seizures		16919904
Micrognathism	Micrognathism
Osteopenia	Osteopenia
Peroxisomal dysfunction	Peroxisomal Dysfunction, General, Peroxisomal Dysfunction, Multiple, Peroxisomal Dysfunction, Single		16385454, 9345094, 9345094, 16385454
Physiologic amenorrhea	Primary physiologic amenorrhea
Salaam seizures	Salaam Seizures		16919904
Scaphocephaly	Scaphycephaly
Spasmus nutans	Nodding spasm, spasmus nutans		16919904
Strabismus	Strabismus
Symptomatic west syndrome	Symptomatic Infantile Spasms		16919904
Thoracic hypoplasia	Thoracic hypoplasia
Zellweger-like syndrome	Zellweger-Like Syndrome		10343282

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