LSS (lanosterol synthase)

Gene

• Entrez ID: 4047
• Gene name: Lanosterol synthase
• Gene symbol: LSS
• Synonyms (NCBI Gene): APMR4, CTRCT44, HYPT14, OSC
• Disease Acronyms (UniProt): APMR4, CTRCT44, HYPT14
• Chromosome: 21
• Chromosome location: 21q22.3
• Summary: The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and v

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs749141857	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs754230211	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs1249530918	A>G	Pathogenic	Coding sequence variant, missense variant
rs1260995701	A>G	Pathogenic	Coding sequence variant, missense variant
rs1569036540	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018611	hsa-miR-335-5p	Microarray	18185580
MIRT028552	hsa-miR-30a-5p	Proteomics	18668040
MIRT047714	hsa-miR-10a-5p	CLASH	23622248
MIRT047498	hsa-miR-10b-5p	CLASH	23622248
MIRT045991	hsa-miR-125b-5p	CLASH	23622248
MIRT1121977	hsa-miR-1207-5p	CLIP-seq
MIRT1121978	hsa-miR-186	CLIP-seq
MIRT1121979	hsa-miR-3133	CLIP-seq
MIRT1121980	hsa-miR-3714	CLIP-seq
MIRT1121981	hsa-miR-4493	CLIP-seq
MIRT1121982	hsa-miR-4499	CLIP-seq
MIRT1121983	hsa-miR-4763-3p	CLIP-seq
MIRT1121984	hsa-miR-940	CLIP-seq
MIRT1121985	hsa-miR-1205	CLIP-seq
MIRT1121986	hsa-miR-1208	CLIP-seq
MIRT1121987	hsa-miR-1224-3p	CLIP-seq
MIRT1121988	hsa-miR-124	CLIP-seq
MIRT1121989	hsa-miR-1260	CLIP-seq
MIRT1121990	hsa-miR-1260b	CLIP-seq
MIRT1121991	hsa-miR-1266	CLIP-seq
MIRT1121992	hsa-miR-1280	CLIP-seq
MIRT1121993	hsa-miR-1285	CLIP-seq
MIRT1121994	hsa-miR-1289	CLIP-seq
MIRT1121995	hsa-miR-1299	CLIP-seq
MIRT1121996	hsa-miR-1537	CLIP-seq
MIRT1121997	hsa-miR-188-3p	CLIP-seq
MIRT1121998	hsa-miR-1909	CLIP-seq
MIRT1121999	hsa-miR-1915	CLIP-seq
MIRT1122000	hsa-miR-2278	CLIP-seq
MIRT1122001	hsa-miR-3115	CLIP-seq
MIRT1122002	hsa-miR-3120-5p	CLIP-seq
MIRT1122003	hsa-miR-3127-5p	CLIP-seq
MIRT1122004	hsa-miR-3143	CLIP-seq
MIRT1122005	hsa-miR-3148	CLIP-seq
MIRT1122006	hsa-miR-3154	CLIP-seq
MIRT1122007	hsa-miR-3156-3p	CLIP-seq
MIRT1122008	hsa-miR-3161	CLIP-seq
MIRT1122009	hsa-miR-3163	CLIP-seq
MIRT1122010	hsa-miR-3164	CLIP-seq
MIRT1122011	hsa-miR-3173-5p	CLIP-seq
MIRT1122012	hsa-miR-3175	CLIP-seq
MIRT1122013	hsa-miR-3184	CLIP-seq
MIRT1122014	hsa-miR-3187-5p	CLIP-seq
MIRT1122015	hsa-miR-326	CLIP-seq
MIRT1122016	hsa-miR-330-5p	CLIP-seq
MIRT1122017	hsa-miR-3609	CLIP-seq
MIRT1122018	hsa-miR-3664-3p	CLIP-seq
MIRT1122019	hsa-miR-3664-5p	CLIP-seq
MIRT1122020	hsa-miR-3667-5p	CLIP-seq
MIRT1121980	hsa-miR-3714	CLIP-seq
MIRT1122021	hsa-miR-378g	CLIP-seq
MIRT1122022	hsa-miR-3910	CLIP-seq
MIRT1122023	hsa-miR-3918	CLIP-seq
MIRT1122024	hsa-miR-3921	CLIP-seq
MIRT1122025	hsa-miR-3975	CLIP-seq
MIRT1122026	hsa-miR-423-5p	CLIP-seq
MIRT1122027	hsa-miR-4256	CLIP-seq
MIRT1122028	hsa-miR-4257	CLIP-seq
MIRT1122029	hsa-miR-4264	CLIP-seq
MIRT1122030	hsa-miR-4276	CLIP-seq
MIRT1122031	hsa-miR-4303	CLIP-seq
MIRT1122032	hsa-miR-4420	CLIP-seq
MIRT1122033	hsa-miR-4436b-3p	CLIP-seq
MIRT1122034	hsa-miR-4463	CLIP-seq
MIRT1122035	hsa-miR-4468	CLIP-seq
MIRT1122036	hsa-miR-4475	CLIP-seq
MIRT1122037	hsa-miR-4477a	CLIP-seq
MIRT1122038	hsa-miR-4486	CLIP-seq
MIRT1122039	hsa-miR-4487	CLIP-seq
MIRT1122040	hsa-miR-4494	CLIP-seq
MIRT1122041	hsa-miR-451	CLIP-seq
MIRT1122042	hsa-miR-4514	CLIP-seq
MIRT1122043	hsa-miR-4518	CLIP-seq
MIRT1122044	hsa-miR-4519	CLIP-seq
MIRT1122045	hsa-miR-4520a-3p	CLIP-seq
MIRT1122046	hsa-miR-4522	CLIP-seq
MIRT1122047	hsa-miR-4638-3p	CLIP-seq
MIRT1122048	hsa-miR-4645-3p	CLIP-seq
MIRT1122049	hsa-miR-4653-5p	CLIP-seq
MIRT1122050	hsa-miR-4676-5p	CLIP-seq
MIRT1122051	hsa-miR-4677-3p	CLIP-seq
MIRT1122052	hsa-miR-4679	CLIP-seq
MIRT1122053	hsa-miR-4690-5p	CLIP-seq
MIRT1122054	hsa-miR-4692	CLIP-seq
MIRT1122055	hsa-miR-4726-3p	CLIP-seq
MIRT1122056	hsa-miR-4742-5p	CLIP-seq
MIRT1122057	hsa-miR-4771	CLIP-seq
MIRT1122058	hsa-miR-4782-5p	CLIP-seq
MIRT1122059	hsa-miR-4797-3p	CLIP-seq
MIRT1122060	hsa-miR-506	CLIP-seq
MIRT1122061	hsa-miR-516b	CLIP-seq
MIRT1122062	hsa-miR-542-3p	CLIP-seq
MIRT1122063	hsa-miR-543	CLIP-seq
MIRT1122064	hsa-miR-548ah	CLIP-seq
MIRT1122065	hsa-miR-548c-3p	CLIP-seq
MIRT1122066	hsa-miR-548n	CLIP-seq
MIRT1122067	hsa-miR-548t	CLIP-seq
MIRT1122068	hsa-miR-575	CLIP-seq
MIRT1122069	hsa-miR-579	CLIP-seq
MIRT1122070	hsa-miR-591	CLIP-seq
MIRT1122071	hsa-miR-612	CLIP-seq
MIRT1122072	hsa-miR-622	CLIP-seq
MIRT1122073	hsa-miR-654-3p	CLIP-seq
MIRT1122074	hsa-miR-760	CLIP-seq
MIRT1122075	hsa-miR-767-3p	CLIP-seq
MIRT1122076	hsa-miR-802	CLIP-seq
MIRT1122077	hsa-miR-875-3p	CLIP-seq
MIRT1121984	hsa-miR-940	CLIP-seq
MIRT2034489	hsa-miR-2054	CLIP-seq
MIRT2034490	hsa-miR-3117-5p	CLIP-seq
MIRT2034491	hsa-miR-3591-3p	CLIP-seq
MIRT2034492	hsa-miR-4722-3p	CLIP-seq
MIRT1121986	hsa-miR-1208	CLIP-seq
MIRT1122032	hsa-miR-4420	CLIP-seq
MIRT2264956	hsa-miR-10a	CLIP-seq
MIRT2264957	hsa-miR-10b	CLIP-seq
MIRT2264958	hsa-miR-3620	CLIP-seq
MIRT2390387	hsa-miR-2277-3p	CLIP-seq
MIRT2453495	hsa-miR-4690-3p	CLIP-seq
MIRT2563966	hsa-miR-134	CLIP-seq
MIRT2563967	hsa-miR-1914	CLIP-seq
MIRT2563968	hsa-miR-3118	CLIP-seq
MIRT1122010	hsa-miR-3164	CLIP-seq
MIRT1121981	hsa-miR-4493	CLIP-seq
MIRT2563969	hsa-miR-4635	CLIP-seq
MIRT2563970	hsa-miR-4753-5p	CLIP-seq
MIRT1121985	hsa-miR-1205	CLIP-seq
MIRT1121977	hsa-miR-1207-5p	CLIP-seq
MIRT2684254	hsa-miR-1321	CLIP-seq
MIRT1121998	hsa-miR-1909	CLIP-seq
MIRT1121999	hsa-miR-1915	CLIP-seq
MIRT2684255	hsa-miR-205	CLIP-seq
MIRT2390387	hsa-miR-2277-3p	CLIP-seq
MIRT1122000	hsa-miR-2278	CLIP-seq
MIRT2034490	hsa-miR-3117-5p	CLIP-seq
MIRT1122011	hsa-miR-3173-5p	CLIP-seq
MIRT2684256	hsa-miR-3177-3p	CLIP-seq
MIRT2684257	hsa-miR-3622b-5p	CLIP-seq
MIRT1122020	hsa-miR-3667-5p	CLIP-seq
MIRT2684258	hsa-miR-3675-5p	CLIP-seq
MIRT2684259	hsa-miR-370	CLIP-seq
MIRT1122024	hsa-miR-3921	CLIP-seq
MIRT2684260	hsa-miR-4253	CLIP-seq
MIRT2684261	hsa-miR-4270	CLIP-seq
MIRT2684262	hsa-miR-4271	CLIP-seq
MIRT1122030	hsa-miR-4276	CLIP-seq
MIRT2684263	hsa-miR-4283	CLIP-seq
MIRT2684264	hsa-miR-4300	CLIP-seq
MIRT1122031	hsa-miR-4303	CLIP-seq
MIRT2684265	hsa-miR-4428	CLIP-seq
MIRT2684266	hsa-miR-4441	CLIP-seq
MIRT1122035	hsa-miR-4468	CLIP-seq
MIRT1122039	hsa-miR-4487	CLIP-seq
MIRT2684267	hsa-miR-4489	CLIP-seq
MIRT1122042	hsa-miR-4514	CLIP-seq
MIRT1122045	hsa-miR-4520a-3p	CLIP-seq
MIRT1122047	hsa-miR-4638-3p	CLIP-seq
MIRT1122049	hsa-miR-4653-5p	CLIP-seq
MIRT2684268	hsa-miR-4688	CLIP-seq
MIRT1122053	hsa-miR-4690-5p	CLIP-seq
MIRT1122054	hsa-miR-4692	CLIP-seq
MIRT2684269	hsa-miR-4697-3p	CLIP-seq
MIRT2684270	hsa-miR-4717-3p	CLIP-seq
MIRT2684271	hsa-miR-4724-5p	CLIP-seq
MIRT2684272	hsa-miR-4725-3p	CLIP-seq
MIRT2684273	hsa-miR-4728-5p	CLIP-seq
MIRT2684274	hsa-miR-4739	CLIP-seq
MIRT1122056	hsa-miR-4742-5p	CLIP-seq
MIRT2684275	hsa-miR-4756-5p	CLIP-seq
MIRT1121983	hsa-miR-4763-3p	CLIP-seq
MIRT2684276	hsa-miR-486-3p	CLIP-seq
MIRT1122062	hsa-miR-542-3p	CLIP-seq
MIRT2684277	hsa-miR-551a	CLIP-seq
MIRT2684278	hsa-miR-551b	CLIP-seq
MIRT1122074	hsa-miR-760	CLIP-seq
MIRT2684279	hsa-miR-766	CLIP-seq
MIRT2684280	hsa-miR-920	CLIP-seq
MIRT1121984	hsa-miR-940	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HDAC3	Unknown	17925399
YY1	Unknown	17925399

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000250	Function	Lanosterol synthase activity	IBA	21873635
GO:0000250	Function	Lanosterol synthase activity	IGI	7639730
GO:0000250	Function	Lanosterol synthase activity	IMP	26200341
GO:0000250	Function	Lanosterol synthase activity	TAS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	30401459
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005811	Component	Lipid droplet	IBA	21873635
GO:0005811	Component	Lipid droplet	IDA	14741744, 21498505
GO:0006694	Process	Steroid biosynthetic process	IMP	26200341
GO:0006695	Process	Cholesterol biosynthetic process	IBA	21873635
GO:0006695	Process	Cholesterol biosynthetic process	IMP	17186944
GO:0006695	Process	Cholesterol biosynthetic process	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016104	Process	Triterpenoid biosynthetic process	IEA
GO:0031647	Process	Regulation of protein stability	IMP	26200341
GO:0042300	Function	Beta-amyrin synthase activity	IEA
GO:0045540	Process	Regulation of cholesterol biosynthetic process	TAS

Other IDs

• MIM: 600909
• HGNC: 6708
• e!Ensembl: ENSG00000160285

Protein

• UniProt ID: P48449
• Protein name: Lanosterol synthase (EC 5.4.99.7) (2,3-epoxysqualene--lanosterol cyclase) (Oxidosqualene--lanosterol cyclase) (OSC) (hOSC)
• Protein function: Key enzyme in the cholesterol biosynthesis pathway. Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus (PubMed:14766201, PubMed:26200341, PubMed:7639730). Through the production of lanoster
• PDB: 1W6J, 1W6K
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00432	Prenyltrans	122 → 165	Prenyltransferase and squalene oxidase repeat	Repeat
  PF00432	Prenyltrans	557 → 600	Prenyltransferase and squalene oxidase repeat	Repeat
  PF00432	Prenyltrans	610 → 658	Prenyltransferase and squalene oxidase repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Expressed in the hair bulb, the outer root sheath and hair matrix of the hair follicle epithelium. Also detected in dermal papilla, epidermis, sweat glands, sebaceous glands, and blood vessels. {ECO:0000269|PubMed:304
• Sequence:

  MTEGTCLRRRGGPYKTEPATDLGRWRLNCERGRQTWTYLQDERAGREQTGLEAYALGLDT
  KNYFKDLPKAHTAFEGALNGMTFYVGLQAEDGHWTGDYGGPLFLLPGLLITCHVARIPLP
  AGYREEIVRYLRSVQLPDGGWGLHIEDKSTVFGTALNYVSLRILGVGPDDPDLVRARNIL
  HKKGGAVAIPSWGKFWLAVLNVYSWEGLNTLFPEMWLFPDWAPAHPSTLWCHCRQVYLPM
  SYCYAVRLSAAEDPLVQSLRQELYVEDFASIDWLAQRNNVAPDELYTPHSWLLRVVYALL
  NLYEHHHSAHLRQRAVQKLYEHIVADDRFTKSISIGPISKTINMLVRWYVDGPASTAFQE
  HVSRIPDYLWMGLDGMKMQGTNGSQIWDTAFAIQALLEAGGHHRPEFSSCLQKAHEFLRL
  SQVPDNPPDYQKYYRQMRKGGFSFSTLDCGWIVSDCTAEALKAVLLLQEKCPHVTEHIPR
  ERLCDAVAVLLNMRNPDGGFATYETKRGGHLLELLNPSEVFGDIMIDYTYVECTSAVMQA
  LKYFHKRFPEHRAAEIRETLTQGLEFCRRQQRADGSWEGSWGVCFTYGTWFGLEAFACMG
  QTYRDGTACAEVSRACDFLLSRQMADGGWGEDFESCEERRYLQSAQSQIHNTCWAMMGLM
  AVRHPDIEAQERGVRCLLEKQLPNGDWPQENIAGVFNKSCAISYTSYRNIFPIWALGRFS
  QLYPERALAGHP

• Sequence length: 732

Pathways

KEGG:

Steroid biosynthesis
Metabolic pathways

Reactome:

Cholesterol biosynthesis
Activation of gene expression by SREBF (SREBP)

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Alopecia-mental retardation syndrome	Alopecia-intellectual disability syndrome	rs201849460, rs1569039353, rs1569036540, rs754230211, rs746562872, rs570157673, rs763705074
Cataract	CATARACT 44, Total early-onset 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	26200341, 26200641, 29016354
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	29016354
Hypotrichosis	Hypotrichosis, HYPOTRICHOSIS 14	rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819, rs121917820, rs387906382, rs267606867, rs267606868, rs267606869, rs201868115, rs587776925, rs587777527, rs587777545, rs766783183, rs879255262, rs201249971, rs768448663, rs1566212378, rs1249530918, rs1260995701, rs1569039353, rs1827030121	30401459
Hypotrichosis simplex	Hypotrichosis simplex	rs121913026, rs201249971	30401459
Mental retardation	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	29016354
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357	29016354

Unknown
Disease term	Disease name	Evidence	References	Source
Alopecia	autosomal recessive palmoplantar keratoderma and congenital alopecia			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Acute Kidney Injury	Associate	30660405
Alopecia	Associate	37947113
AMR Syndrome	Associate	30723320
Aphasia	Associate	35830358
Basaran Yilmaz syndrome	Associate	35413293
Carcinoma Hepatocellular	Associate	25855471
Cardiovascular Diseases	Associate	31760884
Cataract	Associate	30723320, 35413293, 36272497, 37947113
Chromosome 21 monosomy	Associate	35361402
Chromosome 21 ring	Associate	35361402
Colorectal Neoplasms	Associate	37205704
Developmental Disabilities	Associate	30723320
Epilepsy	Associate	30723320, 35830358
Epileptic Encephalopathy Early Infantile 3	Associate	35803560
Essential Hypertension	Associate	26667413, 30660405
Genetic Diseases Inborn	Associate	33494993
Growth Disorders	Associate	37947113
Hypertension	Associate	30660405, 31760884, 37628669
Hypotrichosis	Associate	35830358, 37947113
Hypotrichosis simplex	Associate	30401459, 30723320
Hypoxia	Associate	25855471
Inflammation	Associate	36272497
Intellectual Disability	Associate	37947113
Kidney Diseases	Associate	30660405
Leukodystrophy Metachromatic	Associate	35803560
Leukoencephalopathies	Associate	35803560
Neurocutaneous Syndromes	Associate	30723320, 35830358
Obesity	Associate	37628669
Skin Diseases	Associate	35413293
Syndrome	Associate	35803560