GlyCosmos Portal

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

Displaying entries **2701 - 2725** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:0110852	rhizomelic chondrodysplasia punctata type 2 Aliases: Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency Dhapat Deficiency Dihydroxyacetonephosphate Acyltransferase Deficiency Glyceronephosphate O-Acyltransferase Deficiency Gnpat Deficiency Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency Rcdp2	AGPS ARSH DHCR24 EBP GNPAT NSDHL STS SUMF1	10682 1718 285362 347527 412 50814 8443 8540	Homo sapiens (human)
DOID:0060293	autosomal dominant chondrodysplasia punctata	AGPS ARSH DHCR24 EBP GNPAT NSDHL STS SUMF1	10682 1718 285362 347527 412 50814 8443 8540	Homo sapiens (human)
DOID:0060292	X-linked chondrodysplasia punctata 1 Aliases: chondrodystrophia calcificans congenita	AGPS ARSH DHCR24 EBP FDFT1 GNPAT NSDHL STS SUMF1	10682 1718 2222 285362 347527 412 50814 8443 8540	Homo sapiens (human)
DOID:0110851	rhizomelic chondrodysplasia punctata type 1 Aliases: Pbd9 Peroxisome Biogenesis Disorder 9 Rcdp1	AGPS ARSH DHCR24 EBP FAR1 GNPAT HSD17B4 NSDHL STS SUMF1	10682 1718 285362 3295 347527 412 50814 84188 8443 8540	Homo sapiens (human)
DOID:2581	chondrodysplasia punctata Aliases: Chondrodysplasia punctata congenita	AGPS ARSB ARSH B3GALT6 COL9A2 DHCR24 EBP EXTL3 FDFT1 GNPAT GUSB MSMO1 NEU1 NSDHL SLC26A2 STS SUMF1 TMEM165 XYLT1	10682 126792 1298 1718 1836 2137 2222 285362 2990 347527 411 412 4758 50814 55858 6307 64131 8443 8540	Homo sapiens (human)
DOID:3138	acanthosis nigricans Aliases: keratosis nigricans	AGPAT2 CYP19A1 ELOVL1 PNPLA2 SLC2A3	10555 1588 57104 64834 6515	Homo sapiens (human)
DOID:1062	Fanconi syndrome Aliases: Congenital Fanconi syndrome De Toni-Fanconi syndrome Fanconi-de Toni syndrome Fanconi-de-Toni syndrome Infantile nephropathic cystinosis Lignac-Fanconi syndrome adult Fanconi Anemia adult Fanconi syndrome deToni Fanconi syndrome	AGPAT2 CTNS CYP51A1 EHHADH GPX3 IGF2R NAGLU OCRL SLC2A2 SLC5A1 VNN1 VNN2	10555 1497 1595 1962 2878 3482 4669 4952 6514 6523 8875 8876	Homo sapiens (human)
DOID:0060334	transient neonatal diabetes mellitus	AGPAT2 ASAH1 GCK PDHX SLC2A2	10555 2645 427 6514 8050	Homo sapiens (human)
DOID:11717	neonatal diabetes Aliases: diabetes mellitus syndrome in newborn infant neonatal diabetes mellitus	AGPAT2 ASAH1 GCK INS PDHX SLC2A2	10555 2645 3630 427 6514 8050	Homo sapiens (human)
DOID:1064	cystinosis Aliases: cystine storage disease	AGPAT2 APRT CTNS CYP51A1 EHHADH GPX3 LGALS3 NAGLU OCRL PRKAA2 SLC2A2 SLC5A1 VNN1 VNN2	10555 1497 1595 1962 2878 353 3958 4669 4952 5563 6514 6523 8875 8876	Homo sapiens (human)
DOID:580	uric acid nephrolithiasis Aliases: acute urate nephropathy	AGPAT2 AGXT ALPL ALPP APRT ATRNL1 CAT CD14 CD44 CLC CTNS CYP24A1 CYP27A1 CYP3A5 DGKD DGKH ENO1 G6PC1 GPX1 GRHPR HAO1 HPGDS HPRT1 HSPG2 ITPKC KL NTNG1 OCRL PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLCD1 PRPS1 PTGS2 SI SLC37A4 SLC3A1 UGT1A1 UMOD	10555 1178 1497 1577 1591 1593 160851 189 2023 22854 249 250 2538 2542 26033 27306 2876 3251 3339 353 4952 5290 5291 5293 5294 5310 5333 54363 54658 5631 5743 6476 6519 7369 80271 847 8527 929 9365 9380 960	Homo sapiens (human)
DOID:585	nephrolithiasis Aliases: Stone - kidney/ureter kidney stones	AGPAT2 AGXT ALPL ALPP APRT ATRNL1 CAT CD14 CD44 CLC CTNS CYP24A1 CYP27A1 CYP3A5 DGKD DGKH ENO1 G6PC1 GPX1 GRHPR HAO1 HOGA1 HPGDS HPRT1 HSPG2 ITPKC KL NTNG1 OCRL PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLCD1 SI SLC37A4 SLC3A1 UGT1A1 UMOD	10555 112817 1178 1497 1577 1591 1593 160851 189 2023 22854 249 250 2538 2542 26033 27306 2876 3251 3339 353 4952 5290 5291 5293 5294 5310 5333 54363 54658 6476 6519 7369 80271 847 8527 929 9365 9380 960	Homo sapiens (human)
DOID:0050585	congenital generalized lipodystrophy	AGPAT2 AGPS PCYT1A PNPLA2	10555 5130 57104 8540	Homo sapiens (human)
DOID:1526	panniculitis	AGL PARP1 SMUG1	142 178 23583	Homo sapiens (human)
DOID:1525	nodular nonsuppurative panniculitis Aliases: Relapsing febrile nodular nonsuppurative panniculitis Weber - Christian disease Weber-Christian disease nodular non-suppurative febrile panniculitis	AGL PARP1 SMUG1	142 178 23583	Homo sapiens (human)
DOID:2748	glycogen storage disease III Aliases: Glycogen storage disease 3 Glycogen storage disease, type III amylo 1,6 glucosidase deficiency deficiency of debranching enzyme deficiency of dextrin	AGL G6PC1 GAA GBE1 GYS2 PYGL	178 2538 2548 2632 2998 5836	Homo sapiens (human)
DOID:10718	giardiasis Aliases: Infection by Giardia lamblia beaver feaver	AGL CEL CRYL1 H6PD HPRT1 MBL2 PARP9 SLC27A5 TPI1 UGDH UPP1	1056 10998 178 3251 4153 51084 7167 7358 7378 83666 9563	Homo sapiens (human)
DOID:0050440	familial partial lipodystrophy Aliases: Dunnigan Syndrome Koberling-Dunnigan Syndrome	AGL AGPAT2 LPL	10555 178 4023	Homo sapiens (human)
DOID:0060689	atrichia with papular lesions Aliases: papular atrichia	AGL AGPAT2 ANXA5 APRT	10555 178 308 353	Homo sapiens (human)
DOID:0111138	congenital generalized lipodystrophy type 4 Aliases: Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy congenital generalised lipodystrophy type 4 generalised congenital lipodystrophy type 4 generalised congenital lipodystrophy with myopathy generalized congenital lipodystrophy type 4 generalized congenital lipodystrophy with myopathy	AGL AGPAT1 AGPAT2 ATP6V0A2 ATP6V1A B4GALT7 CD38 DDOST DOLK FKTN FUCA1 GPC3 LPIN1 LPIN2 LPL PARP2 PCK1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 SCD SDHA SMUG1 XYLT2	10038 10554 10555 11285 1650 178 2218 22845 23175 23545 23583 2517 2719 4023 5105 5130 523 5290 5291 5293 5294 5373 57104 6319 6389 64132 952 9663	Homo sapiens (human)
DOID:0111136	congenital generalized lipodystrophy type 2 Aliases: Berardinelli-Seip congenital lipodystrophy type 2 Berardinelli-Seip syndrome Brunzell syndrome BSCL2-related CGL2 congenital lipoatrophic diabetes total lipodystrophy and acromegaloid gigantism	AGL AGPAT1 AGPAT2 ATP6V0A2 ATP6V1A B4GALT7 CD38 DDOST DOLK FKTN FUCA1 GPC3 LPIN1 LPIN2 LPL PARP2 PCK1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 SCD SDHA SMUG1 XYLT2	10038 10554 10555 11285 1650 178 2218 22845 23175 23545 23583 2517 2719 4023 5105 5130 523 5290 5291 5293 5294 5373 57104 6319 6389 64132 952 9663	Homo sapiens (human)
DOID:0111137	congenital generalized lipodystrophy type 3 Aliases: Berardinelli-Seip congenital lipodystrophy type 3	AGL AGPAT1 AGPAT2 ATP6V0A2 ATP6V1A B4GALT7 CD38 DDOST DOLK FKTN FUCA1 GPC3 LPIN1 LPIN2 LPL PARP2 PCK1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 SCD SDHA SMUG1 XYLT2	10038 10554 10555 11285 1650 178 2218 22845 23175 23545 23583 2517 2719 4023 5105 5130 523 5290 5291 5293 5294 5373 57104 6319 6389 64132 952 9663	Homo sapiens (human)
DOID:811	lipodystrophy	AGL AGPAT1 AGPAT2 APRT ATP6V0A2 ATP6V1A B4GALT7 CD38 DDOST DOLK FKTN FUCA1 GPC3 LPIN1 LPIN2 LPL PARP2 PCK1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 SCD SDHA SMUG1 XYLT2	10038 10554 10555 11285 1650 178 2218 22845 23175 23545 23583 2517 2719 353 4023 5105 5130 523 5290 5291 5293 5294 5373 57104 6319 6389 64132 952 9663	Homo sapiens (human)
DOID:11712	lipoatrophic diabetes mellitus Aliases: lipoatrophic diabetes	AGL AGPAT1 AGPAT2 APRT ATP6V0A2 ATP6V1A B4GALT7 CD38 DDOST DOLK FKTN FUCA1 GPC3 LPIN1 LPIN2 LPL PARP2 PCK1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 SCD SDHA SMUG1 XYLT2	10038 10554 10555 11285 1650 178 2218 22845 23175 23545 23583 2517 2719 353 4023 5105 5130 523 5290 5291 5293 5294 5373 57104 6319 6389 64132 952 9663	Homo sapiens (human)
DOID:0111135	congenital generalized lipodystrophy type 1 Aliases: Berardinelli-Seip Congenital Lipodystrophy, Type 1 Brunzell syndrome AGPAT2-related	AGL AGPAT1 AGPAT2 AGPS ATP6V0A2 ATP6V1A B4GALT7 CD38 DDOST DOLK FKTN FUCA1 GPC3 LPIN1 LPIN2 LPL PARP2 PCK1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 SCD SDHA SMUG1 XYLT2	10038 10554 10555 11285 1650 178 2218 22845 23175 23545 23583 2517 2719 4023 5105 5130 523 5290 5291 5293 5294 5373 57104 6319 6389 64132 8540 952 9663	Homo sapiens (human)

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