EBP (EBP cholestenol delta-isomerase)

Gene

• Entrez ID: 10682
• Gene name: EBP cholestenol delta-isomerase
• Gene symbol: EBP
• Synonyms (NCBI Gene): CDPX2, CHO2, CPX, CPXD, MEND
• Disease Acronyms (UniProt): CDPX2, CPX, MEND
• Chromosome: X
• Chromosome location: Xp11.23
• Summary: The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is simil

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28935174	G>A	Pathogenic	Coding sequence variant, missense variant
rs104894792	G>A	Pathogenic	Coding sequence variant, stop gained
rs104894793	C>T	Pathogenic	Coding sequence variant, stop gained
rs104894794	G>A	Pathogenic	Coding sequence variant, stop gained
rs104894795	T>C	Pathogenic	Coding sequence variant, missense variant
rs104894798	G>A	Pathogenic	Coding sequence variant, stop gained
rs104894799	C>T	Pathogenic	Coding sequence variant, stop gained
rs104894800	G>A	Pathogenic	Coding sequence variant, missense variant
rs141925556	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, missense variant
rs145509273	C>G,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs587783599	G>T	Pathogenic	Missense variant, coding sequence variant
rs587783600	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783601	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs587783602	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs587783603	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs587783604	TCTCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783605	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs587783606	T>A	Pathogenic	Splice donor variant
rs587783607	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs587783608	A>C,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs587783609	T>C	Pathogenic	Missense variant, coding sequence variant
rs587783610	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs587783611	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs587783612	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs587783613	C>T	Pathogenic	Stop gained, coding sequence variant
rs587783614	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs587783615	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783616	T>G	Pathogenic	Stop gained, coding sequence variant
rs587783617	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs587783618	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs587783619	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs797045153	T>A	Pathogenic	Missense variant, coding sequence variant
rs797045542	->CTG	Likely-pathogenic	Inframe insertion, coding sequence variant
rs797045543	->T	Pathogenic	Frameshift variant, coding sequence variant
rs797045544	->GATA	Pathogenic	Stop gained, coding sequence variant
rs797045545	CATCACAGCTT>AG	Likely-pathogenic	Inframe indel, coding sequence variant
rs797045546	CCGCC>T	Pathogenic	Frameshift variant, coding sequence variant
rs797045547	->G	Pathogenic	Frameshift variant, coding sequence variant
rs878854358	C>A	Pathogenic	Stop gained, coding sequence variant
rs878854359	T>C	Pathogenic	Missense variant, coding sequence variant
rs886039345	C>T	Pathogenic	Missense variant, coding sequence variant
rs1064796721	TCGTGACCACATG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1569479885	G>T	Pathogenic	Splice donor variant
rs1569479901	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569480016	->A	Pathogenic	Coding sequence variant, stop gained
rs1602090481	G>A	Pathogenic	Coding sequence variant, missense variant
rs1602091152	AG>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001061	hsa-miR-218-5p	qRT-PCR, Western blot	17998940
MIRT049085	hsa-miR-92a-3p	CLASH	23622248
MIRT042892	hsa-miR-324-3p	CLASH	23622248
MIRT040389	hsa-miR-615-3p	CLASH	23622248
MIRT951446	hsa-miR-1470	CLIP-seq
MIRT951447	hsa-miR-3684	CLIP-seq
MIRT951448	hsa-miR-376a	CLIP-seq
MIRT951449	hsa-miR-376b	CLIP-seq
MIRT951450	hsa-miR-377	CLIP-seq
MIRT951451	hsa-miR-4297	CLIP-seq
MIRT951452	hsa-miR-4300	CLIP-seq
MIRT951453	hsa-miR-4318	CLIP-seq
MIRT951454	hsa-miR-4519	CLIP-seq
MIRT951455	hsa-miR-4530	CLIP-seq
MIRT951456	hsa-miR-4646-3p	CLIP-seq
MIRT951457	hsa-miR-4648	CLIP-seq
MIRT951458	hsa-miR-4654	CLIP-seq
MIRT951459	hsa-miR-4667-3p	CLIP-seq
MIRT951460	hsa-miR-4753-3p	CLIP-seq
MIRT951461	hsa-miR-4769-5p	CLIP-seq
MIRT951462	hsa-miR-515-3p	CLIP-seq
MIRT951463	hsa-miR-519e	CLIP-seq
MIRT951464	hsa-miR-548g	CLIP-seq
MIRT951465	hsa-miR-643	CLIP-seq
MIRT951466	hsa-miR-920	CLIP-seq
MIRT951467	hsa-miR-942	CLIP-seq
MIRT1981829	hsa-miR-3938	CLIP-seq
MIRT951451	hsa-miR-4297	CLIP-seq
MIRT951453	hsa-miR-4318	CLIP-seq
MIRT951454	hsa-miR-4519	CLIP-seq
MIRT951455	hsa-miR-4530	CLIP-seq
MIRT951462	hsa-miR-515-3p	CLIP-seq
MIRT951463	hsa-miR-519e	CLIP-seq
MIRT951464	hsa-miR-548g	CLIP-seq
MIRT1981830	hsa-miR-576-5p	CLIP-seq
MIRT2216679	hsa-miR-1207-5p	CLIP-seq
MIRT2216680	hsa-miR-1248	CLIP-seq
MIRT2216681	hsa-miR-3127-3p	CLIP-seq
MIRT1981829	hsa-miR-3938	CLIP-seq
MIRT2216682	hsa-miR-4514	CLIP-seq
MIRT2216683	hsa-miR-4692	CLIP-seq
MIRT2216684	hsa-miR-4736	CLIP-seq
MIRT2216685	hsa-miR-4763-3p	CLIP-seq
MIRT2216686	hsa-miR-4763-5p	CLIP-seq
MIRT2216687	hsa-miR-550a	CLIP-seq
MIRT2216688	hsa-miR-578	CLIP-seq
MIRT2216689	hsa-miR-581	CLIP-seq
MIRT2216679	hsa-miR-1207-5p	CLIP-seq
MIRT2520635	hsa-miR-1286	CLIP-seq
MIRT951446	hsa-miR-1470	CLIP-seq
MIRT2520636	hsa-miR-2355-3p	CLIP-seq
MIRT2520637	hsa-miR-3128	CLIP-seq
MIRT2520638	hsa-miR-3182	CLIP-seq
MIRT2520639	hsa-miR-4268	CLIP-seq
MIRT2520640	hsa-miR-4275	CLIP-seq
MIRT951452	hsa-miR-4300	CLIP-seq
MIRT951453	hsa-miR-4318	CLIP-seq
MIRT2216682	hsa-miR-4514	CLIP-seq
MIRT951456	hsa-miR-4646-3p	CLIP-seq
MIRT951457	hsa-miR-4648	CLIP-seq
MIRT951458	hsa-miR-4654	CLIP-seq
MIRT951459	hsa-miR-4667-3p	CLIP-seq
MIRT2216683	hsa-miR-4692	CLIP-seq
MIRT2520641	hsa-miR-4720-5p	CLIP-seq
MIRT2216684	hsa-miR-4736	CLIP-seq
MIRT2520642	hsa-miR-4759	CLIP-seq
MIRT2216685	hsa-miR-4763-3p	CLIP-seq
MIRT951461	hsa-miR-4769-5p	CLIP-seq
MIRT2520643	hsa-miR-4799-3p	CLIP-seq
MIRT951464	hsa-miR-548g	CLIP-seq
MIRT951466	hsa-miR-920	CLIP-seq
MIRT2216679	hsa-miR-1207-5p	CLIP-seq
MIRT2520635	hsa-miR-1286	CLIP-seq
MIRT951446	hsa-miR-1470	CLIP-seq
MIRT2520636	hsa-miR-2355-3p	CLIP-seq
MIRT2520637	hsa-miR-3128	CLIP-seq
MIRT2520638	hsa-miR-3182	CLIP-seq
MIRT2520640	hsa-miR-4275	CLIP-seq
MIRT951452	hsa-miR-4300	CLIP-seq
MIRT951453	hsa-miR-4318	CLIP-seq
MIRT2216682	hsa-miR-4514	CLIP-seq
MIRT951456	hsa-miR-4646-3p	CLIP-seq
MIRT951457	hsa-miR-4648	CLIP-seq
MIRT951458	hsa-miR-4654	CLIP-seq
MIRT951459	hsa-miR-4667-3p	CLIP-seq
MIRT2216683	hsa-miR-4692	CLIP-seq
MIRT2520641	hsa-miR-4720-5p	CLIP-seq
MIRT2216684	hsa-miR-4736	CLIP-seq
MIRT2520642	hsa-miR-4759	CLIP-seq
MIRT2216685	hsa-miR-4763-3p	CLIP-seq
MIRT951461	hsa-miR-4769-5p	CLIP-seq
MIRT2520643	hsa-miR-4799-3p	CLIP-seq
MIRT951464	hsa-miR-548g	CLIP-seq
MIRT951466	hsa-miR-920	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000247	Function	C-8 sterol isomerase activity	IBA	21873635
GO:0000247	Function	C-8 sterol isomerase activity	ISS
GO:0001501	Process	Skeletal system development	TAS	10391219
GO:0004769	Function	Steroid delta-isomerase activity	EXP	10391218, 10391219
GO:0004769	Function	Steroid delta-isomerase activity	IBA	21873635
GO:0004769	Function	Steroid delta-isomerase activity	IDA	9894009
GO:0004888	Function	Transmembrane signaling receptor activity	TAS	7706302
GO:0005515	Function	Protein binding	IPI	25910212, 32296183
GO:0005635	Component	Nuclear envelope	IDA	10406945
GO:0005783	Component	Endoplasmic reticulum	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IDA	10406945
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	7706302
GO:0006695	Process	Cholesterol biosynthetic process	IBA	21873635
GO:0006695	Process	Cholesterol biosynthetic process	IDA	9894009
GO:0008203	Process	Cholesterol metabolic process	TAS	10391219
GO:0016126	Process	Sterol biosynthetic process	IBA	21873635
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0033489	Process	Cholesterol biosynthetic process via desmosterol	TAS
GO:0033490	Process	Cholesterol biosynthetic process via lathosterol	TAS
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0042908	Process	Xenobiotic transport	IEA
GO:0042910	Function	Xenobiotic transmembrane transporter activity	TAS	7706302
GO:0047750	Function	Cholestenol delta-isomerase activity	IEA

Other IDs

• MIM: 300205
• HGNC: 3133
• e!Ensembl: ENSG00000147155

Protein

• UniProt ID: Q15125
• Protein name: 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase (EC 5.3.3.5) (Cholestenol Delta-isomerase) (Cholesterol-5,6-epoxide hydrolase subunit EBP) (EC 3.3.2.11) (Delta(8)-Delta(7) sterol isomerase) (D8-D7 sterol isomerase) (Emopamil-binding protein)
• Protein function: Isomerase that catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers a catalytic step in the postlanosterol biosynthesis of cholesterol. {ECO:0000269|PubMed:12760743, ECO:0000269|PubMed:8798407, ECO:0000269|PubMed:
• PDB: 6OHT, 6OHU, 8W0R, 8W0S
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05241	EBP	96 → 207		Family

• Sequence:

  MTTNAGPLHPYWPQHLRLDNFVPNDRPTWHILAGLFSVTGVLVVTTWLLSGRAAVVPLGT
  WRRLSLCWFAVCGFIHLVIEGWFVLYYEDLLGDQAFLSQLWKEYAKGDSRYILGDNFTVC
  METITACLWGPLSLWVVIAFLRQHPLRFILQLVVSVGQIYGDVLYFLTEHRDGFQHGELG
  HPLYFWFYFVFMNALWLVLPGVLVLDAVKHLTHAQSTLDAKATKAKSKKN

• Sequence length: 230

Pathways

KEGG:

Steroid biosynthesis
Metabolic pathways

Reactome:

Cholesterol biosynthesis via desmosterol
Cholesterol biosynthesis via lathosterol

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Chondrodysplasia punctata	Chondrodysplasia Punctata, Chondrodysplasia punctata, X-linked dominant type	rs80338714, rs398122843, rs121434599, rs121434604, rs2107055197, rs2089231699	18176751, 10391219, 10391218, 25814754, 12509714, 10942423, 12503101, 6408138, 27604308, 11493318
Chondrodysplasia, x-linked	X-linked dominant chondrodysplasia punctata	rs398122390
Congenital heart defects	Congenital Heart Defects	rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321, rs1555223294, rs782051102, rs1555896779, rs1555896778, rs1555897088, rs374016704, rs1555446983, rs1479104927, rs1562443558, rs755445139, rs1581616817, rs1581655293, rs1899172049
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
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
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
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
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Mend syndrome	MEND SYNDROME, MEND syndrome	rs104894795, rs587783599, rs797045153, rs878854359, rs886039345	24459067, 20949533, 27604308, 24700572, 12503101
Mental retardation	Moderate intellectual disability, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Polydactyly	Polydactyly	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987	12509714
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis, Ptosis			ClinVar
Chondrodysplasia Punctata	chondrodysplasia punctata 2, X-linked dominant, X-linked chondrodysplasia punctata 2			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Alopecia	Associate	10391219, 25846959
Bazex Dupre Christol syndrome	Associate	10391219
Breast Neoplasms	Associate	27246191, 31165728
Cataract	Associate	10391219, 25846959
Chondrodysplasia Punctata	Associate	10391219, 11982764, 12509714, 18176751, 21163155, 25846959, 30135486, 30608402, 31165728, 33147667
Colorectal Neoplasms	Associate	32163279, 37205704
Costello Syndrome	Associate	10712202
Cystic Fibrosis	Associate	11591888
Eunuchism	Associate	31397093
Growth Disorders	Associate	25846959, 30135486
Heart defects limb shortening	Associate	25846959
HEM dysplasia	Associate	12509714
Ichthyosiform Erythroderma Congenital	Associate	25846959
Ichthyosis	Associate	10391219, 25846959, 30135486
Inflammation	Associate	28714016
Klinefelter Syndrome	Associate	30135486
Lipodystrophy Congenital Generalized	Associate	32349771
Metabolism Inborn Errors	Associate	31165728
Neoplasms	Associate	32163279
Neuraminidase 1 deficiency	Associate	16538002
Ovarian Neoplasms	Associate	19724865
Turner Syndrome	Associate	39940742
Warburg Sjo Fledelius syndrome	Associate	37774976