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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 **5426 - 5450** of **7942** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:2710	sick building syndrome	PNPLA6	10908	Homo sapiens (human)
DOID:2712	phimosis Aliases: Tight foreskin Tight frenulum	CYP1A1 CYP1B1 CYP27B1 SRD5A2	1543 1545 1594 6716	Homo sapiens (human)
DOID:2717	Bloom syndrome Aliases: Bloom-Torre-Machacek syndrome Congenital Telangiectatic Erythema syndrome	ALPP APRT ATRNL1 CAT HPSE2 LCAT PKM PLAUR SCD UNG	250 26033 353 3931 5315 5329 60495 6319 7374 847	Homo sapiens (human)
DOID:2722	acrodermatitis	ACE AGA AGXT AKR1C3 ALDH3A2 ALDH7A1 ALOX5 APRT ARSH ASGR1 CALR CAT CD109 CD44 CD74 CERS3 CHI3L1 CLEC10A COL9A2 COMT ELOVL1 ELOVL6 FDFT1 HPGDS HPSE ICAM1 IL1R1 IL1RL2 LGALS3 LGALS9 MBL2 MRC1 NAAA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G4A PLAUR PLCB3 POFUT1 PTGDS PTGS2 SDC1 SLC17A5 SOAT1 VCAM1	10462 10855 1116 1298 1312 135228 142 1636 175 189 204219 2222 224 23509 240 26503 27163 27306 3383 347527 353 3554 3958 3965 4153 432 4360 501 5290 5291 5293 5294 5319 5321 5329 5331 5730 5743 6382 64834 6646 7412 79071 811 847 8644 8808 960 972	Homo sapiens (human)
DOID:2723	dermatitis Aliases: eczema skin inflammation	Tnf	21926	Mus musculus (house mouse)
DOID:2723	dermatitis Aliases: eczema skin inflammation	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:2723	dermatitis Aliases: eczema skin inflammation	ABO ACADVL ACE ACHE AGXT AKR1C3 ALDH3A2 ALDH7A1 ALOX12B ALOX15 ALOX5 APRT ARSH ASGR1 CALR CAT CD109 CD14 CD44 CD48 CD55 CD74 CERS3 CERS4 CHGA CHI3L1 CHST3 CLEC10A CLEC16A CLEC7A COL9A2 CYP24A1 CYP27A1 CYP27B1 CYP2R1 DHCR7 ELOVL1 ELOVL3 ELOVL6 ENO1 FADS1 FADS2 FAR1 FAR2 FCER2 FDFT1 FUT2 FUT7 GLB1 GLUL HAS3 HPGDS HPSE HSD11B1 ICAM1 ICAM5 IL18R1 IL1R1 IL1RL1 IL1RL2 INPP5D ITLN1 LCLAT1 LGALS1 LGALS3 LGALS9 LPIN2 MBL2 MGLL MRC1 NAAA NPL OGA PARP1 PCCA PCCB PGD PGM3 PIGX PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2E PLA2G4A PLA2G4D PLA2G7 PLAUR PLB1 PLCB3 PLD3 POFUT1 PTGDS PTGS2 SDC1 SELE SELP SIGLEC7 SLC17A5 SLC2A2 SLC35D1 SLC35G1 SLC39A8 SOAT1 SRD5A3 STS TMTC2 TNF TPI1 UGT1A9 VCAM1	10462 10724 10855 1113 1116 11343 120227 1298 135228 142 151056 1591 1593 159371 1594 160335 1604 1636 1717 189 2023 204219 2208 2222 224 23169 23274 23509 23646 240 242 246 2524 2529 253558 26503 27036 27163 2720 27306 2752 28 283748 3038 30814 3290 3383 347527 353 3554 3635 37 3956 3958 3965 3992 412 4153 43 432 4360 501 5095 5096 5226 5238 5290 5291 5293 5294 5319 5321 5329 5331 54600 54965 55600 55711 5730 5743 6382 6401 6403 64116 64581 64834 6514 6646 7087 7124 7167 7412 79071 7941 79603 79644 80896 811 83401 84188 847 8644 8808 8809 9173 929 9415 9469 960 962 9663 972	Homo sapiens (human)
DOID:2725	capillary hemangioma Aliases: Capillary haemangioma Congenital vascular hamartoma Congenital vascular naevus Infantile hemangioma Juvenile hemangioma Strawberry haemangioma Strawberry nevus Strawberry nevus of skin cellular hemangioma of Infancy	ACE ATP6AP2 ATP6V1A C1GALT1C1 CYP1B1 GNPTAB MAG MTM1 MTMR14 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SDHC SDHD SRD5A3	10159 1545 1636 29071 4099 4534 523 5290 5291 5293 5294 5728 6391 6392 64419 79158 79644	Homo sapiens (human)
DOID:2729	dyskeratosis congenita Aliases: DKCD	Tp53	24842	Rattus norvegicus (Norway rat)
DOID:2729	dyskeratosis congenita Aliases: DKCD	GALNT3 GOLPH3 HPSE2 TECR TP53	2591 60495 64083 7157 9524	Homo sapiens (human)
DOID:2729	dyskeratosis congenita Aliases: DKCD	Trp53	22059	Mus musculus (house mouse)
DOID:2730	epidermolysis bullosa Aliases: acantholysis bullosa	B3GAT1 CEACAM5 HSPG2 PLOD3 SDC2	1048 27087 3339 6383 8985	Homo sapiens (human)
DOID:2732	Rothmund-Thomson syndrome Aliases: Congenital poikiloderma RTS	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:2733	skin atrophy Aliases: Atrophoderma Atrophy - skin atrophic condition of skin	ACE CAT CD44 DCN DHCR24 GPI PIK3CA PIK3CB	1634 1636 1718 2821 5290 5291 847 960	Homo sapiens (human)
DOID:2734	keratosis follicularis Aliases: DARIER-WHITE DISEASE Darier's disease	ACE AKR1B1 ALDH3A2 ALDH7A1 ALOX12B ALPL AMY2B APRT CANX CERS3 DGAT1 EBP ELOVL4 ENPP1 GBA1 GLA GNPTAB HPGDS HSD17B6 ICAM1 LPIN2 MPDU1 NCAM1 NT5E PKD1 PLA2G1B PNPLA2 PNPLA6 POGLUT1 PTEN PTGS2 SELE SELL SELP SGPL1 SMUG1 STS SULT2B1 XYLT1 XYLT2	10682 10908 1636 204219 224 231 23583 242 249 2629 2717 27306 280 3383 353 412 4684 4907 501 5167 5310 5319 56983 57104 5728 5743 6401 6402 6403 64131 64132 6785 6820 79158 821 8630 8694 8879 9526 9663	Homo sapiens (human)
DOID:2736	Hajdu-Cheney syndrome Aliases: Cheney syndrome HJCYS SFPKS acroosteolysis with osteoporosis and changes in skull and mandible arthrodentoosteodysplasia serpentine fibula-polycystic kidney syndrome	N	31293	Drosophila melanogaster (fruit fly)
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	xylt1.L xylt1.S xylt2.L	108701100 108703114 444363	Xenopus laevis (African clawed frog)
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	xylt1 xylt2	100145490 448400	Xenopus tropicalis (tropical clawed frog)
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	Enpp1 Xylt1 Xylt2	18605 217119 233781	Mus musculus (house mouse)
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	ACE AKR1B1 ALDH3A2 ALDH7A1 ALOX12B ALPL AMY2B APRT CANX CAT CERS3 DGAT1 EBP ELOVL4 ENPP1 GBA1 GLA GNPTAB GPX1 HPGDS HSD17B6 ICAM1 LPIN2 MPDU1 NCAM1 NT5E PKD1 PLA2G1B PNPLA2 PNPLA6 POGLUT1 PTEN PTGS2 SELE SELL SELP SGPL1 SMUG1 STS SULT2B1 XYLT1 XYLT2	10682 10908 1636 204219 224 231 23583 242 249 2629 2717 27306 280 2876 3383 353 412 4684 4907 501 5167 5310 5319 56983 57104 5728 5743 6401 6402 6403 64131 64132 6785 6820 79158 821 847 8630 8694 8879 9526 9663	Homo sapiens (human)
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	xylt1 xylt2	560951 563446	Danio rerio (zebrafish)
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	oxt	38288	Drosophila melanogaster (fruit fly)
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	Enpp1 Xylt1 Xylt2	64133 64134 85496	Rattus norvegicus (Norway rat)
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	sqv-6	190099	Caenorhabditis elegans
DOID:2739	Gilbert syndrome Aliases: Constitutional hyperbilirubinemia Gilbert's disease Gilbert's syndrome Gilbert-Meulengracht syndrome hereditary nonhemolytic jaundice	Ugt1a1	394436	Mus musculus (house mouse)

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