FDFT1 (farnesyl-diphosphate farnesyltransferase 1)

Gene

• Entrez ID: 2222
• Gene name: Farnesyl-diphosphate farnesyltransferase 1
• Gene symbol: FDFT1
• Synonyms: DGPT, ERG9, SQS, SQSD, SS
• Chromosome: 8
• Chromosome location: 8p23.1
• Summary: This gene encodes a membrane-associated enzyme located at a branch point in the mevalonate pathway. The encoded protein is the first specific enzyme in cholesterol biosynthesis, catalyzing the dimerization of two molecules of farnesyl diphosphate in a two

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1563339323	TC>AG	Likely-pathogenic	Intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018425	hsa-miR-335-5p	Microarray	18185580
MIRT020885	hsa-miR-155-5p	Proteomics	18668040
MIRT029745	hsa-miR-26b-5p	Microarray	19088304
MIRT045529	hsa-miR-149-5p	CLASH	23622248
MIRT036774	hsa-miR-760	CLASH	23622248
MIRT994259	hsa-miR-105	CLIP-seq
MIRT994260	hsa-miR-1243	CLIP-seq
MIRT994261	hsa-miR-1245	CLIP-seq
MIRT994262	hsa-miR-1255a	CLIP-seq
MIRT994263	hsa-miR-1255b	CLIP-seq
MIRT994264	hsa-miR-1276	CLIP-seq
MIRT994265	hsa-miR-128	CLIP-seq
MIRT994266	hsa-miR-147	CLIP-seq
MIRT994267	hsa-miR-15a	CLIP-seq
MIRT994268	hsa-miR-15b	CLIP-seq
MIRT994269	hsa-miR-16	CLIP-seq
MIRT994270	hsa-miR-181a	CLIP-seq
MIRT994271	hsa-miR-181b	CLIP-seq
MIRT994272	hsa-miR-181c	CLIP-seq
MIRT994273	hsa-miR-181d	CLIP-seq
MIRT994274	hsa-miR-1827	CLIP-seq
MIRT994275	hsa-miR-186	CLIP-seq
MIRT994276	hsa-miR-195	CLIP-seq
MIRT994277	hsa-miR-216a	CLIP-seq
MIRT994278	hsa-miR-23a	CLIP-seq
MIRT994279	hsa-miR-23b	CLIP-seq
MIRT994280	hsa-miR-23c	CLIP-seq
MIRT994281	hsa-miR-2682	CLIP-seq
MIRT994282	hsa-miR-3124-3p	CLIP-seq
MIRT994283	hsa-miR-3133	CLIP-seq
MIRT994284	hsa-miR-3148	CLIP-seq
MIRT994285	hsa-miR-3163	CLIP-seq
MIRT994286	hsa-miR-3165	CLIP-seq
MIRT994287	hsa-miR-3190	CLIP-seq
MIRT994288	hsa-miR-33a	CLIP-seq
MIRT994289	hsa-miR-33b	CLIP-seq
MIRT994290	hsa-miR-340	CLIP-seq
MIRT994291	hsa-miR-3613-3p	CLIP-seq
MIRT994292	hsa-miR-3647-3p	CLIP-seq
MIRT994293	hsa-miR-3654	CLIP-seq
MIRT994294	hsa-miR-3671	CLIP-seq
MIRT994295	hsa-miR-370	CLIP-seq
MIRT994296	hsa-miR-3714	CLIP-seq
MIRT994297	hsa-miR-371-5p	CLIP-seq
MIRT994298	hsa-miR-371b-5p	CLIP-seq
MIRT994299	hsa-miR-3907	CLIP-seq
MIRT994300	hsa-miR-3911	CLIP-seq
MIRT994301	hsa-miR-3921	CLIP-seq
MIRT994302	hsa-miR-3925-5p	CLIP-seq
MIRT994303	hsa-miR-3938	CLIP-seq
MIRT994304	hsa-miR-3977	CLIP-seq
MIRT994305	hsa-miR-412	CLIP-seq
MIRT994306	hsa-miR-424	CLIP-seq
MIRT994307	hsa-miR-4262	CLIP-seq
MIRT994308	hsa-miR-4311	CLIP-seq
MIRT994309	hsa-miR-4457	CLIP-seq
MIRT994310	hsa-miR-449c	CLIP-seq
MIRT994311	hsa-miR-4645-3p	CLIP-seq
MIRT994312	hsa-miR-4653-5p	CLIP-seq
MIRT994313	hsa-miR-4659a-5p	CLIP-seq
MIRT994314	hsa-miR-4659b-5p	CLIP-seq
MIRT994315	hsa-miR-4661-3p	CLIP-seq
MIRT994316	hsa-miR-4676-5p	CLIP-seq
MIRT994317	hsa-miR-4695-3p	CLIP-seq
MIRT994318	hsa-miR-4704-3p	CLIP-seq
MIRT994319	hsa-miR-4731-5p	CLIP-seq
MIRT994320	hsa-miR-4768-5p	CLIP-seq
MIRT994321	hsa-miR-4769-3p	CLIP-seq
MIRT994322	hsa-miR-4795-3p	CLIP-seq
MIRT994323	hsa-miR-487a	CLIP-seq
MIRT994324	hsa-miR-497	CLIP-seq
MIRT994325	hsa-miR-522	CLIP-seq
MIRT994326	hsa-miR-543	CLIP-seq
MIRT994327	hsa-miR-548an	CLIP-seq
MIRT994328	hsa-miR-548c-3p	CLIP-seq
MIRT994329	hsa-miR-548n	CLIP-seq
MIRT994330	hsa-miR-562	CLIP-seq
MIRT994331	hsa-miR-575	CLIP-seq
MIRT994332	hsa-miR-583	CLIP-seq
MIRT994333	hsa-miR-584	CLIP-seq
MIRT994334	hsa-miR-599	CLIP-seq
MIRT994335	hsa-miR-607	CLIP-seq
MIRT994336	hsa-miR-644	CLIP-seq
MIRT994337	hsa-miR-944	CLIP-seq
MIRT1994830	hsa-miR-1229	CLIP-seq
MIRT994261	hsa-miR-1245	CLIP-seq
MIRT994262	hsa-miR-1255a	CLIP-seq
MIRT994263	hsa-miR-1255b	CLIP-seq
MIRT994265	hsa-miR-128	CLIP-seq
MIRT994267	hsa-miR-15a	CLIP-seq
MIRT994268	hsa-miR-15b	CLIP-seq
MIRT994269	hsa-miR-16	CLIP-seq
MIRT994274	hsa-miR-1827	CLIP-seq
MIRT994276	hsa-miR-195	CLIP-seq
MIRT1994831	hsa-miR-2909	CLIP-seq
MIRT994282	hsa-miR-3124-3p	CLIP-seq
MIRT1994832	hsa-miR-3162-5p	CLIP-seq
MIRT1994833	hsa-miR-3622a-3p	CLIP-seq
MIRT1994834	hsa-miR-3622b-3p	CLIP-seq
MIRT994294	hsa-miR-3671	CLIP-seq
MIRT1994835	hsa-miR-3685	CLIP-seq
MIRT1994836	hsa-miR-384	CLIP-seq
MIRT994304	hsa-miR-3977	CLIP-seq
MIRT994306	hsa-miR-424	CLIP-seq
MIRT994309	hsa-miR-4457	CLIP-seq
MIRT1994837	hsa-miR-4509	CLIP-seq
MIRT1994838	hsa-miR-4659a-3p	CLIP-seq
MIRT1994839	hsa-miR-4659b-3p	CLIP-seq
MIRT994315	hsa-miR-4661-3p	CLIP-seq
MIRT994316	hsa-miR-4676-5p	CLIP-seq
MIRT1994840	hsa-miR-4691-3p	CLIP-seq
MIRT994319	hsa-miR-4731-5p	CLIP-seq
MIRT994323	hsa-miR-487a	CLIP-seq
MIRT994324	hsa-miR-497	CLIP-seq
MIRT1994841	hsa-miR-548m	CLIP-seq
MIRT994330	hsa-miR-562	CLIP-seq
MIRT994331	hsa-miR-575	CLIP-seq
MIRT994335	hsa-miR-607	CLIP-seq
MIRT1994842	hsa-miR-942	CLIP-seq
MIRT994337	hsa-miR-944	CLIP-seq
MIRT994259	hsa-miR-105	CLIP-seq
MIRT994261	hsa-miR-1245	CLIP-seq
MIRT994262	hsa-miR-1255a	CLIP-seq
MIRT994263	hsa-miR-1255b	CLIP-seq
MIRT994265	hsa-miR-128	CLIP-seq
MIRT2228965	hsa-miR-1537	CLIP-seq
MIRT994267	hsa-miR-15a	CLIP-seq
MIRT994268	hsa-miR-15b	CLIP-seq
MIRT994269	hsa-miR-16	CLIP-seq
MIRT994270	hsa-miR-181a	CLIP-seq
MIRT994271	hsa-miR-181b	CLIP-seq
MIRT994272	hsa-miR-181c	CLIP-seq
MIRT994273	hsa-miR-181d	CLIP-seq
MIRT994274	hsa-miR-1827	CLIP-seq
MIRT994276	hsa-miR-195	CLIP-seq
MIRT1994831	hsa-miR-2909	CLIP-seq
MIRT994282	hsa-miR-3124-3p	CLIP-seq
MIRT1994832	hsa-miR-3162-5p	CLIP-seq
MIRT2228966	hsa-miR-3194-3p	CLIP-seq
MIRT994294	hsa-miR-3671	CLIP-seq
MIRT1994835	hsa-miR-3685	CLIP-seq
MIRT1994836	hsa-miR-384	CLIP-seq
MIRT994299	hsa-miR-3907	CLIP-seq
MIRT994305	hsa-miR-412	CLIP-seq
MIRT994306	hsa-miR-424	CLIP-seq
MIRT994307	hsa-miR-4262	CLIP-seq
MIRT994309	hsa-miR-4457	CLIP-seq
MIRT1994837	hsa-miR-4509	CLIP-seq
MIRT994311	hsa-miR-4645-3p	CLIP-seq
MIRT994313	hsa-miR-4659a-5p	CLIP-seq
MIRT994314	hsa-miR-4659b-5p	CLIP-seq
MIRT994315	hsa-miR-4661-3p	CLIP-seq
MIRT994316	hsa-miR-4676-5p	CLIP-seq
MIRT1994840	hsa-miR-4691-3p	CLIP-seq
MIRT994317	hsa-miR-4695-3p	CLIP-seq
MIRT994318	hsa-miR-4704-3p	CLIP-seq
MIRT2228967	hsa-miR-4727-5p	CLIP-seq
MIRT994319	hsa-miR-4731-5p	CLIP-seq
MIRT994321	hsa-miR-4769-3p	CLIP-seq
MIRT994323	hsa-miR-487a	CLIP-seq
MIRT994324	hsa-miR-497	CLIP-seq
MIRT994325	hsa-miR-522	CLIP-seq
MIRT994326	hsa-miR-543	CLIP-seq
MIRT1994841	hsa-miR-548m	CLIP-seq
MIRT994330	hsa-miR-562	CLIP-seq
MIRT994331	hsa-miR-575	CLIP-seq
MIRT994335	hsa-miR-607	CLIP-seq
MIRT994262	hsa-miR-1255a	CLIP-seq
MIRT994263	hsa-miR-1255b	CLIP-seq
MIRT994274	hsa-miR-1827	CLIP-seq
MIRT1994831	hsa-miR-2909	CLIP-seq
MIRT2387961	hsa-miR-3122	CLIP-seq
MIRT1994832	hsa-miR-3162-5p	CLIP-seq
MIRT2387962	hsa-miR-3913-5p	CLIP-seq
MIRT994309	hsa-miR-4457	CLIP-seq
MIRT994319	hsa-miR-4731-5p	CLIP-seq
MIRT994259	hsa-miR-105	CLIP-seq
MIRT1994830	hsa-miR-1229	CLIP-seq
MIRT994261	hsa-miR-1245	CLIP-seq
MIRT994262	hsa-miR-1255a	CLIP-seq
MIRT994263	hsa-miR-1255b	CLIP-seq
MIRT2532509	hsa-miR-1272	CLIP-seq
MIRT994264	hsa-miR-1276	CLIP-seq
MIRT994265	hsa-miR-128	CLIP-seq
MIRT2532510	hsa-miR-136	CLIP-seq
MIRT2228965	hsa-miR-1537	CLIP-seq
MIRT994267	hsa-miR-15a	CLIP-seq
MIRT994268	hsa-miR-15b	CLIP-seq
MIRT994269	hsa-miR-16	CLIP-seq
MIRT994270	hsa-miR-181a	CLIP-seq
MIRT994271	hsa-miR-181b	CLIP-seq
MIRT994272	hsa-miR-181c	CLIP-seq
MIRT994273	hsa-miR-181d	CLIP-seq
MIRT994274	hsa-miR-1827	CLIP-seq
MIRT994275	hsa-miR-186	CLIP-seq
MIRT994276	hsa-miR-195	CLIP-seq
MIRT994278	hsa-miR-23a	CLIP-seq
MIRT994279	hsa-miR-23b	CLIP-seq
MIRT994280	hsa-miR-23c	CLIP-seq
MIRT2532511	hsa-miR-28-5p	CLIP-seq
MIRT1994831	hsa-miR-2909	CLIP-seq
MIRT994282	hsa-miR-3124-3p	CLIP-seq
MIRT994283	hsa-miR-3133	CLIP-seq
MIRT2532512	hsa-miR-3139	CLIP-seq
MIRT2532513	hsa-miR-3145-5p	CLIP-seq
MIRT994284	hsa-miR-3148	CLIP-seq
MIRT1994832	hsa-miR-3162-5p	CLIP-seq
MIRT2228966	hsa-miR-3194-3p	CLIP-seq
MIRT1994833	hsa-miR-3622a-3p	CLIP-seq
MIRT1994834	hsa-miR-3622b-3p	CLIP-seq
MIRT994292	hsa-miR-3647-3p	CLIP-seq
MIRT2532514	hsa-miR-3662	CLIP-seq
MIRT994294	hsa-miR-3671	CLIP-seq
MIRT1994835	hsa-miR-3685	CLIP-seq
MIRT1994836	hsa-miR-384	CLIP-seq
MIRT994299	hsa-miR-3907	CLIP-seq
MIRT994302	hsa-miR-3925-5p	CLIP-seq
MIRT994304	hsa-miR-3977	CLIP-seq
MIRT994305	hsa-miR-412	CLIP-seq
MIRT994306	hsa-miR-424	CLIP-seq
MIRT994307	hsa-miR-4262	CLIP-seq
MIRT2532515	hsa-miR-4272	CLIP-seq
MIRT994308	hsa-miR-4311	CLIP-seq
MIRT994309	hsa-miR-4457	CLIP-seq
MIRT2532516	hsa-miR-4496	CLIP-seq
MIRT1994837	hsa-miR-4509	CLIP-seq
MIRT2532517	hsa-miR-4537	CLIP-seq
MIRT1994838	hsa-miR-4659a-3p	CLIP-seq
MIRT994313	hsa-miR-4659a-5p	CLIP-seq
MIRT1994839	hsa-miR-4659b-3p	CLIP-seq
MIRT994314	hsa-miR-4659b-5p	CLIP-seq
MIRT1994840	hsa-miR-4691-3p	CLIP-seq
MIRT2532518	hsa-miR-4698	CLIP-seq
MIRT2228967	hsa-miR-4727-5p	CLIP-seq
MIRT994319	hsa-miR-4731-5p	CLIP-seq
MIRT994321	hsa-miR-4769-3p	CLIP-seq
MIRT994324	hsa-miR-497	CLIP-seq
MIRT2532519	hsa-miR-508-5p	CLIP-seq
MIRT994325	hsa-miR-522	CLIP-seq
MIRT2532520	hsa-miR-539	CLIP-seq
MIRT994326	hsa-miR-543	CLIP-seq
MIRT2532521	hsa-miR-548a-5p	CLIP-seq
MIRT2532522	hsa-miR-548ab	CLIP-seq
MIRT2532523	hsa-miR-548ak	CLIP-seq
MIRT2532524	hsa-miR-548b-5p	CLIP-seq
MIRT2532525	hsa-miR-548c-5p	CLIP-seq
MIRT2532526	hsa-miR-548d-5p	CLIP-seq
MIRT2532527	hsa-miR-548h	CLIP-seq
MIRT2532528	hsa-miR-548i	CLIP-seq
MIRT2532529	hsa-miR-548j	CLIP-seq
MIRT2532530	hsa-miR-548k	CLIP-seq
MIRT2532531	hsa-miR-548l	CLIP-seq
MIRT1994841	hsa-miR-548m	CLIP-seq
MIRT2532532	hsa-miR-548w	CLIP-seq
MIRT2532533	hsa-miR-548y	CLIP-seq
MIRT2532534	hsa-miR-559	CLIP-seq
MIRT2532535	hsa-miR-570	CLIP-seq
MIRT994332	hsa-miR-583	CLIP-seq
MIRT994335	hsa-miR-607	CLIP-seq
MIRT2532536	hsa-miR-708	CLIP-seq
MIRT1994842	hsa-miR-942	CLIP-seq
MIRT1994830	hsa-miR-1229	CLIP-seq
MIRT994261	hsa-miR-1245	CLIP-seq
MIRT994262	hsa-miR-1255a	CLIP-seq
MIRT994263	hsa-miR-1255b	CLIP-seq
MIRT2532509	hsa-miR-1272	CLIP-seq
MIRT994265	hsa-miR-128	CLIP-seq
MIRT2532510	hsa-miR-136	CLIP-seq
MIRT2228965	hsa-miR-1537	CLIP-seq
MIRT994267	hsa-miR-15a	CLIP-seq
MIRT994268	hsa-miR-15b	CLIP-seq
MIRT994269	hsa-miR-16	CLIP-seq
MIRT994270	hsa-miR-181a	CLIP-seq
MIRT994271	hsa-miR-181b	CLIP-seq
MIRT994272	hsa-miR-181c	CLIP-seq
MIRT994273	hsa-miR-181d	CLIP-seq
MIRT994274	hsa-miR-1827	CLIP-seq
MIRT994275	hsa-miR-186	CLIP-seq
MIRT994276	hsa-miR-195	CLIP-seq
MIRT994278	hsa-miR-23a	CLIP-seq
MIRT994279	hsa-miR-23b	CLIP-seq
MIRT994280	hsa-miR-23c	CLIP-seq
MIRT2532511	hsa-miR-28-5p	CLIP-seq
MIRT994282	hsa-miR-3124-3p	CLIP-seq
MIRT994283	hsa-miR-3133	CLIP-seq
MIRT2532512	hsa-miR-3139	CLIP-seq
MIRT2532513	hsa-miR-3145-5p	CLIP-seq
MIRT2228966	hsa-miR-3194-3p	CLIP-seq
MIRT1994833	hsa-miR-3622a-3p	CLIP-seq
MIRT1994834	hsa-miR-3622b-3p	CLIP-seq
MIRT994292	hsa-miR-3647-3p	CLIP-seq
MIRT2532514	hsa-miR-3662	CLIP-seq
MIRT994294	hsa-miR-3671	CLIP-seq
MIRT1994835	hsa-miR-3685	CLIP-seq
MIRT1994836	hsa-miR-384	CLIP-seq
MIRT994305	hsa-miR-412	CLIP-seq
MIRT994306	hsa-miR-424	CLIP-seq
MIRT994307	hsa-miR-4262	CLIP-seq
MIRT2532515	hsa-miR-4272	CLIP-seq
MIRT994309	hsa-miR-4457	CLIP-seq
MIRT2532517	hsa-miR-4537	CLIP-seq
MIRT1994838	hsa-miR-4659a-3p	CLIP-seq
MIRT994313	hsa-miR-4659a-5p	CLIP-seq
MIRT1994839	hsa-miR-4659b-3p	CLIP-seq
MIRT994314	hsa-miR-4659b-5p	CLIP-seq
MIRT2532518	hsa-miR-4698	CLIP-seq
MIRT2228967	hsa-miR-4727-5p	CLIP-seq
MIRT994319	hsa-miR-4731-5p	CLIP-seq
MIRT994321	hsa-miR-4769-3p	CLIP-seq
MIRT994324	hsa-miR-497	CLIP-seq
MIRT2532519	hsa-miR-508-5p	CLIP-seq
MIRT2532520	hsa-miR-539	CLIP-seq
MIRT994326	hsa-miR-543	CLIP-seq
MIRT2532535	hsa-miR-570	CLIP-seq
MIRT994335	hsa-miR-607	CLIP-seq
MIRT2532536	hsa-miR-708	CLIP-seq
MIRT1994842	hsa-miR-942	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SREBF1	Unknown	11008488;11111077
SREBF2	Unknown	11008488;11111077

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004310	Function	Farnesyl-diphosphate farnesyltransferase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	25910212, 32296183
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006694	Process	Steroid biosynthetic process	TAS	8474436
GO:0006695	Process	Cholesterol biosynthetic process	IBA	21873635
GO:0006695	Process	Cholesterol biosynthetic process	TAS
GO:0016021	Component	Integral component of membrane	IEA
GO:0019216	Process	Regulation of lipid metabolic process	TAS
GO:0045338	Process	Farnesyl diphosphate metabolic process	IBA	21873635
GO:0045540	Process	Regulation of cholesterol biosynthetic process	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0051996	Function	Squalene synthase activity	IBA	21873635

Other IDs

• MIM: 184420
• HGNC: 3629
• e!Ensembl: ENSG00000079459

Protein

• UniProt ID: P37268
• Protein name: Squalene synthase (SQS) (SS) (EC 2.5.1.21) (FPP:FPP farnesyltransferase) (Farnesyl-diphosphate farnesyltransferase) (Farnesyl-diphosphate farnesyltransferase 1)
• Protein function: Catalyzes the condensation of 2 farnesyl pyrophosphate (FPP) moieties to form squalene. Proceeds in two distinct steps. In the first half-reaction, two molecules of FPP react to form the stable presqualene diphosphate intermediate (PSQPP), with
• PDB: 1EZF, 3ASX, 3LEE, 3Q2Z, 3Q30, 3V66, 3VJ8, 3VJ9, 3VJA, 3VJB, 3VJC, 3WC9, 3WCD, 3WCF, 3WCH, 3WCI, 3WCJ, 3WCL, 3WCM, 3WEF, 3WEG, 3WEH, 3WEI, 3WEJ, 3WEK, 3WSA, 6PYJ, 6PYV, 6PYW, 6PZ5, 8WTQ, 8WTR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00494	SQS_PSY	47 → 320		Domain

• Sequence:

  MEFVKCLGHPEEFYNLVRFRIGGKRKVMPKMDQDSLSSSLKTCYKYLNQTSRSFAAVIQA
  LDGEMRNAVCIFYLVLRALDTLEDDMTISVEKKVPLLHNFHSFLYQPDWRFMESKEKDRQ
  VLEDFPTISLEFRNLAEKYQTVIADICRRMGIGMAEFLDKHVTSEQEWDKYCHYVAGLVG
  IGLSRLFSASEFEDPLVGEDTERANSMGLFLQKTNIIRDYLEDQQGGREFWPQEVWSRYV
  KKLGDFAKPENIDLAVQCLNELITNALHHIPDVITYLSRLRNQSVFNFCAIPQVMAIATL
  AACYNNQQVFKGAVKIRKGQAVTLMMDATNMPAVKAIIYQYMEEIYHRIPDSDPSSSKTR
  QIISTIRTQNLPNCQLISRSHYSPIYLSFVMLLAALSWQYLTTLSQVTEDYVQTGEH

• Sequence length: 417

Pathways

KEGG:

Steroid biosynthesis
Metabolic pathways

Reactome:

Cholesterol biosynthesis
PPARA activates gene expression
Activation of gene expression by SREBF (SREBP)

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Developmental delay	Profound 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	29909962
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	29909962
Squalene synthase deficiency	SQUALENE SYNTHASE DEFICIENCY	rs1563339323, rs1563290033	29909962

Unknown
Disease name	Disease term	dbSNP ID	References
Liver carcinoma	Liver carcinoma		21147110
Liver cirrhosis	Liver Cirrhosis		20708005
Non-alcoholic fatty liver disease	Non-alcoholic Fatty Liver Disease		20708005
Visual cortex disease	Visual Cortex Disorder		29909962