PedAM

Pediatric Disease Annotations & Medicines


	sphingolipidosis

Disease ID	1098
Disease	sphingolipidosis
Definition	A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign.
Synonym	sphingolipid storage dis sphingolipid storage disease sphingolipid storage diseases sphingolipidoses sphingolipidoses [disease/finding] sphingolipidosis (disorder) sphingolipidosis, nos storage disease, sphingolipid storage diseases, sphingolipid
Orphanet	ORPHANET:79225
DOID	DOID:1927
UMLS	C0037899
MeSH	D013106
SNOMED-CT	SNOMEDCT_US_2016_09_01:238028008
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:14) NPC2 \| 10577 \| UniProtKB-KW;GHR SMPD1 \| 6609 \| UniProtKB-KW;GHR SUMF1 \| 285362 \| UniProtKB-KW;GHR ARSA \| 410 \| UniProtKB-KW;GHR ARSB \| 411 \| UniProtKB-KW GLA \| 2717 \| GHR GBA \| 2629 \| UniProtKB-KW;GHR NPC1 \| 4864 \| UniProtKB-KW;GHR HEXA \| 3073 \| UniProtKB-KW;GHR HEXB \| 3074 \| UniProtKB-KW;GHR GALC \| 2581 \| GHR PSAP \| 5660 \| UniProtKB-KW;GHR GLB1 \| 2720 \| UniProtKB-KW GM2A \| 2760 \| UniProtKB-KW
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:285) 4074 \| M6PR \| DISEASES 2519 \| FUCA2 \| DISEASES 1080 \| CFTR \| DISEASES 6362 \| CCL18 \| DISEASES 8935 \| SKAP2 \| DISEASES 5662 \| PSD \| DISEASES 50487 \| PLA2G3 \| DISEASES 410 \| ARSA \| DISEASES 5816 \| PVALB \| DISEASES 412 \| STS \| DISEASES 2717 \| GLA \| DISEASES 54 \| ACP5 \| DISEASES 23659 \| PLA2G15 \| DISEASES 79152 \| FA2H \| DISEASES 56942 \| CMC2 \| DISEASES 2765 \| GML \| DISEASES 973 \| CD79A \| DISEASES 11140 \| CDC37 \| DISEASES 2639 \| GCDH \| DISEASES 6348 \| CCL3 \| DISEASES 30851 \| TAX1BP3 \| DISEASES 6347 \| CCL2 \| DISEASES 4669 \| NAGLU \| DISEASES 4126 \| MANBA \| DISEASES 8050 \| PDHX \| DISEASES 10944 \| C11orf58 \| DISEASES 4254 \| KITLG \| DISEASES 50856 \| CLEC4A \| DISEASES 7942 \| TFEB \| DISEASES 2908 \| NR3C1 \| DISEASES 338 \| APOB \| DISEASES 4759 \| NEU2 \| DISEASES 1509 \| CTSD \| DISEASES 335 \| APOA1 \| DISEASES 5311 \| PKD2 \| DISEASES 9525 \| VPS4B \| DISEASES 80218 \| NAA50 \| DISEASES 821 \| CANX \| DISEASES 3425 \| IDUA \| DISEASES 53947 \| A4GALT \| DISEASES 968 \| CD68 \| DISEASES 6351 \| CCL4 \| DISEASES 79603 \| CERS4 \| DISEASES 2006 \| ELN \| DISEASES 348 \| APOE \| DISEASES 10343 \| PKDREJ \| DISEASES 2670 \| GFAP \| DISEASES 5565 \| PRKAB2 \| DISEASES 6538 \| SLC6A11 \| DISEASES 27183 \| VPS4A \| DISEASES 6272 \| SORT1 \| DISEASES 53 \| ACP2 \| DISEASES 967 \| CD63 \| DISEASES 90070 \| LACRT \| DISEASES 6610 \| SMPD2 \| DISEASES 3569 \| IL6 \| DISEASES 5460 \| POU5F1 \| DISEASES 3832 \| KIF11 \| DISEASES 4069 \| LYZ \| DISEASES 2581 \| GALC \| DISEASES 3074 \| HEXB \| DISEASES 3783 \| KCNN4 \| DISEASES 3553 \| IL1B \| DISEASES 4036 \| LRP2 \| DISEASES 5007 \| OSBP \| DISEASES 3931 \| LCAT \| DISEASES 60482 \| SLC5A7 \| DISEASES 57192 \| MCOLN1 \| DISEASES 175 \| AGA \| DISEASES 3383 \| ICAM1 \| DISEASES 950 \| SCARB2 \| DISEASES 411 \| ARSB \| DISEASES 51726 \| DNAJB11 \| DISEASES 7879 \| RAB7A \| DISEASES 793 \| CALB1 \| DISEASES 38 \| ACAT1 \| DISEASES 11070 \| TMEM115 \| DISEASES 3073 \| HEXA \| DISEASES 2588 \| GALNS \| DISEASES 4864 \| NPC1 \| DISEASES 54808 \| DYM \| DISEASES 64129 \| TINAGL1 \| DISEASES 5298 \| PI4KB \| DISEASES 10753 \| CAPN9 \| DISEASES 285362 \| SUMF1 \| DISEASES 23500 \| DAAM2 \| DISEASES 81615 \| TMEM163 \| DISEASES 3087 \| HHEX \| DISEASES 204219 \| CERS3 \| DISEASES 23643 \| LY96 \| DISEASES 351 \| APP \| DISEASES 5018 \| OXA1L \| DISEASES 29028 \| ATAD2 \| DISEASES 51422 \| PRKAG2 \| DISEASES 3156 \| HMGCR \| DISEASES 29881 \| NPC1L1 \| DISEASES 1636 \| ACE \| DISEASES 6352 \| CCL5 \| DISEASES 10825 \| NEU3 \| DISEASES 219931 \| TPCN2 \| DISEASES 213 \| ALB \| DISEASES 134429 \| STARD4 \| DISEASES 3562 \| IL3 \| DISEASES 4846 \| NOS3 \| DISEASES 5267 \| SERPINA4 \| DISEASES 120892 \| LRRK2 \| DISEASES 9150 \| CTDP1 \| DISEASES 2819 \| GPD1 \| DISEASES 10022 \| INSL5 \| DISEASES 2990 \| GUSB \| DISEASES 3308 \| HSPA4 \| DISEASES 3094 \| HINT1 \| DISEASES 55283 \| MCOLN3 \| DISEASES 5354 \| PLP1 \| DISEASES 2548 \| GAA \| DISEASES 2353 \| FOS \| DISEASES 7369 \| UMOD \| DISEASES 2720 \| GLB1 \| DISEASES 10067 \| SCAMP3 \| DISEASES 126669 \| SHE \| DISEASES 54550 \| NECAB2 \| DISEASES 4884 \| NPTX1 \| DISEASES 6620 \| SNCB \| DISEASES 2147 \| F2 \| DISEASES 2820 \| GPD2 \| DISEASES 5936 \| RBM4 \| DISEASES 3265 \| HRAS \| DISEASES 947 \| CD34 \| DISEASES 23209 \| MLC1 \| DISEASES 4118 \| MAL \| DISEASES 836 \| CASP3 \| DISEASES 7368 \| UGT8 \| DISEASES 4281 \| MID1 \| DISEASES 2631 \| GBAS \| DISEASES 2907 \| GRINA \| DISEASES 2629 \| GBA \| DISEASES 6448 \| SGSH \| DISEASES 51228 \| GLTP \| DISEASES 6950 \| TCP1 \| DISEASES 4351 \| MPI \| DISEASES 129807 \| NEU4 \| DISEASES 4018 \| LPA \| DISEASES 25915 \| NDUFAF3 \| DISEASES 8706 \| B3GALNT1 \| DISEASES 6657 \| SOX2 \| DISEASES 91012 \| CERS5 \| DISEASES 2200 \| FBN1 \| DISEASES 3590 \| IL11RA \| DISEASES 23400 \| ATP13A2 \| DISEASES 80789 \| INTS5 \| DISEASES 2520 \| GAST \| DISEASES 25834 \| MGAT4C \| DISEASES 10227 \| MFSD10 \| DISEASES 256933 \| NPB \| DISEASES 344018 \| FIGLA \| DISEASES 113612 \| CYP2U1 \| DISEASES 3916 \| LAMP1 \| DISEASES 682 \| BSG \| DISEASES 3043 \| HBB \| DISEASES 219541 \| MED19 \| DISEASES 3988 \| LIPA \| DISEASES 6622 \| SNCA \| DISEASES 23583 \| SMUG1 \| DISEASES 66005 \| CHID1 \| DISEASES 857 \| CAV1 \| DISEASES 5329 \| PLAUR \| DISEASES 5313 \| PKLR \| DISEASES 6609 \| SMPD1 \| DISEASES 2583 \| B4GALNT1 \| DISEASES 27159 \| CHIA \| DISEASES 1431 \| CS \| DISEASES 1508 \| CTSB \| DISEASES 57515 \| SERINC1 \| DISEASES 9514 \| GAL3ST1 \| DISEASES 197021 \| LCTL \| DISEASES 347 \| APOD \| DISEASES 4625 \| MYH7 \| DISEASES 5926 \| ARID4A \| DISEASES 51287 \| COA4 \| DISEASES 26503 \| SLC17A5 \| DISEASES 3482 \| IGF2R \| DISEASES 2760 \| GM2A \| DISEASES 404552 \| SCGB1D4 \| DISEASES 51454 \| GULP1 \| DISEASES 9332 \| CD163 \| DISEASES 23607 \| CD2AP \| DISEASES 23370 \| ARHGEF18 \| DISEASES 1201 \| CLN3 \| DISEASES 58484 \| NLRC4 \| DISEASES 6721 \| SREBF2 \| DISEASES 280 \| AMY2B \| DISEASES 10724 \| MGEA5 \| DISEASES 10712 \| FAM189B \| DISEASES 55157 \| DARS2 \| DISEASES 5071 \| PARK2 \| DISEASES 5287 \| PIK3C2B \| DISEASES 1118 \| CHIT1 \| DISEASES 7139 \| TNNT2 \| DISEASES 912 \| CD1D \| DISEASES 632 \| BGLAP \| DISEASES 4580 \| MTX1 \| DISEASES 7059 \| THBS3 \| DISEASES 10924 \| SMPDL3A \| DISEASES 4121 \| MAN1A1 \| DISEASES 5654 \| HTRA1 \| DISEASES 1520 \| CTSS \| DISEASES 1117 \| CHI3L2 \| DISEASES 22984 \| PDCD11 \| DISEASES 5309 \| PITX3 \| DISEASES 89885 \| FATE1 \| DISEASES 255231 \| MCOLN2 \| DISEASES 959 \| CD40LG \| DISEASES 51557 \| LGSN \| DISEASES 5688 \| PSMA7 \| DISEASES 11253 \| MAN1B1 \| DISEASES 5730 \| PTGDS \| DISEASES 27069 \| GHITM \| DISEASES 5476 \| CTSA \| DISEASES 2170 \| FABP3 \| DISEASES 27293 \| SMPDL3B \| DISEASES 7357 \| UGCG \| DISEASES 2517 \| FUCA1 \| DISEASES 9314 \| KLF4 \| DISEASES 19 \| ABCA1 \| DISEASES 1306 \| COL15A1 \| DISEASES 5320 \| PLA2G2A \| DISEASES 4758 \| NEU1 \| DISEASES 1282 \| COL4A1 \| DISEASES 199 \| AIF1 \| DISEASES 6668 \| SP2 \| DISEASES 1471 \| CST3 \| DISEASES 57704 \| GBA2 \| DISEASES 5420 \| PODXL \| DISEASES 2665 \| GDI2 \| DISEASES 10670 \| RRAGA \| DISEASES 11174 \| ADAMTS6 \| DISEASES 347527 \| ARSH \| DISEASES 427 \| ASAH1 \| DISEASES 10457 \| GPNMB \| DISEASES 4155 \| MBP \| DISEASES 5268 \| SERPINB5 \| DISEASES 8878 \| SQSTM1 \| DISEASES 4099 \| MAG \| DISEASES 256281 \| NUDT14 \| DISEASES 1267 \| CNP \| DISEASES 2319 \| FLOT2 \| DISEASES 5660 \| PSAP \| DISEASES 174 \| AFP \| DISEASES 4668 \| NAGA \| DISEASES 6161 \| RPL32 \| DISEASES 8341 \| HIST1H2BN \| DISEASES 23259 \| DDHD2 \| DISEASES 4599 \| MX1 \| DISEASES 7018 \| TF \| DISEASES 25983 \| NGDN \| DISEASES 6335 \| SCN9A \| DISEASES 81493 \| SYNC \| DISEASES 10618 \| TGOLN2 \| DISEASES 6916 \| TBXAS1 \| DISEASES 11277 \| TREX1 \| DISEASES 85300 \| ATCAY \| DISEASES 6399 \| TRAPPC2 \| DISEASES 8399 \| PLA2G10 \| DISEASES 7124 \| TNF \| DISEASES 3609 \| ILF3 \| DISEASES 388372 \| CCL4L1 \| DISEASES 5830 \| PEX5 \| DISEASES 3920 \| LAMP2 \| DISEASES 2632 \| GBE1 \| DISEASES 627 \| BDNF \| DISEASES 643680 \| MS4A4E \| DISEASES 9367 \| RAB9A \| DISEASES 100526737 \| RBM14-RBM4 \| DISEASES 10424 \| PGRMC2 \| DISEASES 3347 \| HTN3 \| DISEASES 53373 \| TPCN1 \| DISEASES 4607 \| MYBPC3 \| DISEASES 7421 \| VDR \| DISEASES 10577 \| NPC2 \| DISEASES 2108 \| ETFA \| DISEASES 57733 \| GBA3 \| DISEASES 348120 \| LINC01193 \| DISEASES 4555 \| MT-TD \| DISEASES 4566 \| MT-TK \| DISEASES 728606 \| PCAT18 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1098
Disease	sphingolipidosis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	1098
Disease	sphingolipidosis
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:72)
CHR	POS	SNPID	REF	ALT	ORI_SNPID	PMID	P_VALUE	P_VALUE_TEXT	OR/BETA	CI95_TEXT	GWAS_INITIAL_SAMPLE_SIZE	SUB_POPULATION	SUPER_POPULATION	GWAS_TRAIT	HPO_ID	HPO_TERM	DO_ID	DO_TERM	MESH_ID	MESH_TERM	EFO_ID	EFO_TERM	DOLITE_TERM	RISK_ALLELE	PUBLICATION_TYPE	AA	GENE_SYMBOL	TYPE	REFGENE
1	150937329	rs4451553	C	T	rs4451553	19798445	1.18E-05	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
2	169516830	rs7565629	G	T	rs7565629	19798445	3.40E-05	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
4	47551863	rs13106975	T	G	rs13106975	22359512	2.00E-19	levels	0	[0.70-2.0] % increase	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
4	47560386	rs4298115	C	T	rs4298115	19798445	5.98E-09	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
4	47563448	rs10938494	G	A	rs10938494	19798445	8.00E-19	GluCer	0.06	[0.04-0.07] unit increase	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	rs10938494-A
4	47582387	rs2351791	A	C	rs2351791	19798445	4.64E-18	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
4	47598298	rs17462424	T	C	rs17462424	19798445	1.81E-09	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
4	47609664	rs6832495	G	A	rs6832495	19798445	2.02E-11	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
4	47635586	rs4694863	A	C	rs4694863	19798445	4.47E-09	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
4	47669435	rs2351784	T	C	rs2351784	19798445	7.72E-10	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
4	47672301	rs4695267	C	T	rs4695267	19798445	2.39E-12	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
5	6821914	rs1566039	G	A	rs1566039	22359512	1.00E-08	NA	0.8	[NA] % increase	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
10	105207301	rs2232662	C	T	rs2232662	22359512	2.70E-10	NA	NA	NA	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
11	61526071	rs198475	T	C	rs198475	19798445	6.48E-05	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
11	61548559	rs509360	A	G	rs509360	19798445	4.61E-05	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
11	61552680	rs174537	G	T	rs174537	19798445	9.04E-12	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
11	61557803	rs102275	T	C	rs102275	19798445	2.15E-11	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
11	61569830	rs174546	C	T	rs174546	19798445	2.00E-11	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
11	61580635	rs174556	C	T	rs174556	19798445	3.73E-12	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
11	61597212	rs174570	C	T	rs174570	19798445	9.34E-06	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
11	61597972	rs1535	A	G	rs1535	19798445	1.56E-11	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
11	61605215	rs2072114	A	G	rs2072114	19798445	2.50E-07	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
11	61616012	rs2851682	A	G	rs2851682	19798445	8.06E-05	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
11	61637466	rs174627	G	A	rs174627	19798445	1.71E-05	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
11	61640379	rs174449	G	A	rs174449	19798445	3.00E-11	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
11	61641542	rs174450	G	T	rs174450	19798445	1.33E-05	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
11	61655305	rs1000778	A	G	rs1000778	19798445	7.00E-13	SM 16:1	0.62	[0.45-0.78] unit decrease	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	rs1000778-A
11	61678754	rs174479	C	G	rs174479	22359512	2.00E-14	levels	0	[0.80-1.50] % increase	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
14	64230089	rs4902242	T	C	rs4902242	19798445	8.13E-54	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
14	64232386	rs17101394	G	A	rs17101394	22359512	3.00E-57	levels	0	[0.70-6.3] % increase	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
14	64235556	rs7157785	G	T	rs7157785	19798445	9.00E-66	SM 14:0Mol%	0	[0.001-0.002]mol % increase	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	rs7157785-A
14	64335586	rs1959033	G	A	rs1959033	19798445	6.63E-13	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
14	64346190	rs4459477	C	T	rs4459477	19798445	8.33E-29	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
14	64387468	rs12889954	T	C	rs12889954	19798445	2.95E-33	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
14	64604595	rs12881815	G	A	rs12881815	19798445	7.71E-10	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
15	101070463	rs1566776	C	T	rs1566776	19798445	3.11E-05	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
16	56988044	rs173539	C	T	rs173539	22359512	8.50E-17	NA	NA	NA	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
16	56989590	rs247616	C	T	rs247616	22359512	7.80E-17	NA	NA	NA	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
16	56993211	rs12708967	T	C	rs12708967	22359512	8.00E-11	NA	NA	NA	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
16	56993324	rs3764261	C	A	rs3764261	22359512	6.90E-17	NA	NA	NA	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
16	56995236	rs1800775	C	A	rs1800775	22359512	9.20E-17	NA	NA	NA	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
16	56996211	rs711752	G	A	rs711752	22359512	6.50E-19	NA	NA	NA	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
16	56997233	rs1864163	G	A	rs1864163	22359512	1.70E-12	NA	NA	NA	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
16	56998572	rs9929488	G	C	rs9929488	22359512	1.20E-11	NA	NA	NA	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
16	56999258	rs7203984	A	C	rs7203984	22359512	3.70E-08	NA	NA	NA	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
16	56999328	rs11508026	C	T	rs11508026	22359512	2.40E-19	NA	NA	NA	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
16	57002663	rs9926440	C	G	rs9926440	22359512	1.80E-12	NA	NA	NA	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
16	57002732	rs9939224	T	G	rs9939224	22359512	7.30E-09	NA	NA	NA	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
16	57004889	rs7205804	G	A	rs7205804	22359512	8.50E-20	NA	NA	NA	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
16	57005479	rs1532624	C	A	rs1532624	22359512	8.60E-20	NA	NA	NA	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
16	57006378	rs11076175	A	G	rs11076175	22359512	1.10E-08	NA	NA	NA	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
16	57006590	rs7499892	C	T	rs7499892	22359512	1.20E-08	NA	NA	NA	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
16	76566157	rs4485401	A	G	rs4485401	22359512	2.00E-08	NA	0.8	[NA] % increase	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
17	4683035	rs12051548	G	C	rs12051548	22359512	1.00E-09	NA	0	[0.70-0.90] % increase	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
19	8166377	rs4804061	T	C	rs4804061	19798445	2.00E-08	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
19	8271721	rs7258249	G	A	rs7258249	19798445	2.00E-27	SM 18:1Mol%	0	[0.0007-0.001]mol % increase	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	rs7258249-G
19	8271721	rs7258249	G	A	rs7258249	22359512	1.00E-34	levels	0	[0.80-3.70] % increase	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
19	8285607	rs11666866	G	A	rs11666866	19798445	6.66E-21	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
19	8289519	rs1466448	C	A	rs1466448	19798445	4.80E-25	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
19	8298411	rs2967625	G	A	rs2967625	19798445	3.42E-15	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
19	8327502	rs28133	T	C	rs28133	19798445	4.90E-11	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
19	19789528	rs2304130	A	G	rs2304130	22359512	6.00E-09	NA	0.8	[NA] % increase	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
19	45242173	rs1531517	G	A	rs1531517	22359512	1.40E-09	NA	NA	NA	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
19	45247627	rs4803750	A	G	rs4803750	22359512	6.40E-09	NA	NA	NA	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
19	45389596	rs7254892	G	A	rs7254892	22359512	5.30E-13	NA	NA	NA	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
19	45415640	rs445925	G	A	rs445925	22359512	9.20E-26	NA	NA	NA	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
19	45422946	rs4420638	A	G	rs4420638	22359512	2.60E-09	NA	NA	NA	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
19	45432557	rs7259004	G	C	rs7259004	22359512	5.00E-10	levels	0	[0.80-1.0] % increase	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
20	12965401	rs3848751	T	G	rs3848751	19798445	1.60E-08	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
20	12969400	rs680379	A	G	rs680379	19798445	8.00E-15	Cer24:0	0.1	[0.08-0.13]mol % increase	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	rs680379-A
20	12969400	rs680379	A	G	rs680379	22359512	2.00E-16	levels	0	[0.80-1.70] % increase	4,034 European ancestry individuals	European(4034)	ALL(4034)	EUR(4034)	ALL(4034)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA
20	12974567	rs6078866	A	G	rs6078866	19798445	1.57E-08	NA	NA	NA	4,110 European individuals	European(4110)	ALL(4110)	EUR(4110)	ALL(4110)	Sphingolipid levels	HPOID:0003119	Abnormality of lipid metabolism	DOID:3393	DOID:9352	coronary artery disease	type 2 diabetes mellitus	D013106	Sphingolipidoses	EFOID:0004622	sphingolipid measurement	Vascular disease	Diabetes mellitus	NA

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
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