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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2301 - 2325** of **4621** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:0111422	familial lipase maturation factor 1 deficiency Aliases: LPL and HL deficiency LPL and HTGL deficiency combined lipase deficiency familial LMF1 deficiency lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency	LPL	4023	Homo sapiens (human)
DOID:0060062	familial juvenile hyperuricemic nephropathy	UMOD	7369	Homo sapiens (human)
DOID:0111387	familial isolated hypoparathyroidism Aliases: FIH	AGA	175	Homo sapiens (human)
DOID:0060699	familial hypocalciuric hypercalcemia Aliases: FBH FBHH FHH familial benign hypercalcemia familial benign hypocalciuric hypercalcemia	CYP24A1	1591	Homo sapiens (human)
DOID:0060702	familial hypocalciuric hypercalcemia 3 Aliases: FHH type 3 HHC3 familial hypocalciuric hypercalcemia type 3 hypocalciuric hypercalcemia type III	CYP24A1	1591	Homo sapiens (human)
DOID:0060701	familial hypocalciuric hypercalcemia 2 Aliases: FHH type 2 HHC2 familial hypocalciuric hypercalcemia type 2 hypocalciuric hypercalcemia type II	CYP24A1	1591	Homo sapiens (human)
DOID:0060700	familial hypocalciuric hypercalcemia 1 Aliases: FHH type 1 HHC1 familial benign hypercalcemia 1 familial hypocalciuric hypercalcemia type I hypocalciuric hypercalcemia type I	ALPP ATRNL1 CYP24A1 PTGS2	1591 250 26033 5743	Homo sapiens (human)
DOID:0111061	familial hypobetalipoproteinemia 2 Aliases: FHBL2 combined familial hypolipidemia	ANGPTL3	27329	Homo sapiens (human)
DOID:0111062	familial hypobetalipoproteinemia 1 Aliases: FHBL1	EFNA5 PLA2G7	1946 7941	Homo sapiens (human)
DOID:0080326	familial hypertrophic cardiomyopathy	ABO ACACA ACADL ACADVL ACE AGK AGPAT2 ALG1 APRT ARSD ATP6V1A CALR3 CALR CNTN3 COG7 CPT1A CYP11B2 DLD ECHS1 FASN FKTN GAA GAPDH GLA GLB1 GNPTAB HADH HADHA ICAM1 IDH2 LGALS3 MGAM MLYCD NAGA PDHA1 PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G7 PMM2 SCD5 SCD SDHA SDHB SDHD SI SLC2A10 SLC33A1 SLC5A1 SMUG1 SUCLG1 SULT1E1 TPI1	10555 125972 1374 1585 1636 1738 1892 2194 2218 23417 23583 2548 2597 2717 2720 28 3030 3033 31 33 3383 3418 353 37 3958 414 4668 5067 5160 523 5289 5290 5291 5293 5294 5310 5373 55750 56052 6319 6389 6390 6392 6476 6523 6783 7167 79158 7941 79966 81031 811 8802 8972 91949 9197	Homo sapiens (human)
DOID:1168	familial hyperlipidemia Aliases: familial hyperlipoproteinemia hyperlipemia	ACACA ACADSB ACAT1 ACE ACHE ACLY ACOX1 ACSL3 ACSL5 ADIPOQ AGL AKR1B1 ALOX5 ALPP APRT ARSA ATRNL1 CAT CD38 CD44 CDH13 CEL CPT1A CPT2 CYB5R3 CYP19A1 CYP1A1 CYP1B1 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP51A1 CYP7A1 DGAT1 DLD FASN FCGR3B FCN1 FDFT1 G6PC1 G6PD GALNT2 GFPT1 GGT1 GLA GLB1 GPIHBP1 GYS2 HADHB HSD11B1 HSPG2 INPP5F KL KLB KLRK1 LCAT LEP LGALS3 LIPA LIPC LPL LYZ NAMPT NEIL1 OLR1 PC PIK3C2G PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLA2G7 PLB1 PNPLA2 PNPLA3 PRKAA2 PTEN PTGS1 PTGS2 RGN SDC1 SDC2 SELP SLC17A5 SLC2A4 SLC37A4 SOAT1 SOAT2 ST3GAL4 VCAM1	1012 10135 1056 1374 1376 151056 152831 1543 1545 1555 1557 1559 1571 1581 1588 1593 1595 1636 1727 1738 178 2181 2194 2215 2219 2222 22876 22914 231 240 250 2538 2539 2542 2590 26033 26503 2673 2678 2717 2720 2998 3032 31 3290 3339 338328 353 36 38 3931 3952 3958 3988 3990 4023 4069 410 43 47 4973 5091 51 51703 5288 5290 5291 5293 5294 5320 5563 57104 5728 5742 5743 6382 6383 6403 6484 6517 6646 7412 7941 79661 80339 8399 8435 847 8694 9104 9365 9370 952 960	Homo sapiens (human)
DOID:0070215	familial hyperinsulinemic hypoglycemia 4 Aliases: HHF4 hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency hyperinsulinism due to SCHAD deficiency hyperinsulinism due to glutamodehydrogenase deficiency hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HADH	3033	Homo sapiens (human)
DOID:0070216	familial hyperinsulinemic hypoglycemia 3 Aliases: HHF3 hyperinsulinemic hypoglycemia due to glucokinase deficiency hyperinsulinism due to glucokinase deficiency	GCK	2645	Homo sapiens (human)
DOID:0070218	familial hyperinsulinemic hypoglycemia 2 Aliases: Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency HHF2 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia	CEL EHHADH GCK HADH HAO1 HAO2 KCNJ11 MCAT MPI PDHX PGM1 PMM2	1056 1962 2645 27349 3033 3767 4351 51179 5236 5373 54363 8050	Homo sapiens (human)
DOID:0070219	familial hyperinsulinemic hypoglycemia 1 Aliases: HHF1	CEL EHHADH GCK HADH HAO1 HAO2 MCAT MPI PDHX PGM1 PMM2	1056 1962 2645 27349 3033 4351 51179 5236 5373 54363 8050	Homo sapiens (human)
DOID:13810	familial hypercholesterolemia Aliases: Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia	ABO ACE ACSS2 ADH1A ADPRH ALOX5 ANXA5 BAAT CH25H COG2 COL9A2 CYP7A1 EPHX2 EXT1 EXT2 GK GLB1 HSPG2 ICAM1 LCAT LIPA LIPC LIPG LPL OLR1 PLA2G15 PLA2G7 PRKCSH RBP4 SDC2 SELE SIGLEC7 TNFRSF10C	124 1298 141 1581 1636 2053 2131 2132 22796 23659 240 27036 2710 2720 28 308 3339 3383 3931 3988 3990 4023 4973 5589 55902 570 5950 6383 6401 7941 8794 9023 9388	Homo sapiens (human)
DOID:0110921	familial hemophagocytic lymphohistiocytosis 1 Aliases: FHL1 HLH1 HPLH1	SMUG1	23583	Homo sapiens (human)
DOID:0060178	familial hemiplegic migraine	ATP1A2 DPEP1 PMM2 PRKCSH	1800 477 5373 5589	Homo sapiens (human)
DOID:0111182	familial hemiplegic migraine 2 Aliases: FHM2 Familial hemiplegic migraine-2 MHP2	ATP1A2 DPEP1	1800 477	Homo sapiens (human)
DOID:0111181	familial hemiplegic migraine 1 Aliases: FHM1 MHP1 familial hemiplegic migraine1 with progressive cerebellar ataxia	PMM2 PRKCSH	5373 5589	Homo sapiens (human)
DOID:0111630	familial erythrocytosis 8 Aliases: BPGM deficiency DPGM deficiency ECYT8 bisphosphoglycerate mutase deficiency bisphosphoglyceromutase deficiency diphosphoglycerate mutase deficiency of erythrocyte hemolytic anemia due to diphosphoglycerate mutase deficiency	BPGM	669	Homo sapiens (human)
DOID:0060474	familial erythrocytosis 2 Aliases: Chuvash erythromatosis Chuvash polycythemia Chuvash type polycythemia ECYT2 autosomal recessive benign erythrocytosis	ACO1 BPGM CD177 CYB5R3 FH FUT1 G6PD HPRT1 PKLR SMUG1	1727 2271 23583 2523 2539 3251 48 5313 57126 669	Homo sapiens (human)
DOID:0060652	familial erythrocytosis 1 Aliases: ECYT1 autosomal dominant benign erythrocytosis primary familial and congenital polycythemia	CD177 PKLR	5313 57126	Homo sapiens (human)
DOID:13809	familial combined hyperlipidemia Aliases: familial multiple lipoprotein-type hyperlipidemia hyperbetalipoproteinemia with prebetalipoproteinemia mixed hyperlipidaemia type IIb hyperlipoproteinemia	ACE ALPL CHIT1 CYP7A1 LCAT LIPC LPL LYPLA2 PNPLA2 SCD SELP SIGLEC7	1118 11313 1581 1636 249 27036 3931 3990 4023 57104 6319 6403	Homo sapiens (human)
DOID:0090061	familial cold autoinflammatory syndrome Aliases: FCAS	HPSE PLCG2	10855 5336	Homo sapiens (human)

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