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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 **4001 - 4025** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:3762	cytochrome-c oxidase deficiency disease Aliases: MITOCHONDRIAL COMPLEX IV DEFICIENCY	CHKB EHHADH GAA GBE1 HADHA OTOA PLCE1 PTGS1 PTGS2 SIRT4	1120 146183 1962 23409 2548 2632 3030 51196 5742 5743	Homo sapiens (human)
DOID:0060312	angular cheilitis Aliases: angular cheilosis angular stomatitis cheilosis commissural cheilitis	CLEC7A OCRL	4952 64581	Homo sapiens (human)
DOID:2236	congenital afibrinogenemia Aliases: Factor I deficiency Fibrinogen deficiency	LMAN1 MCFD2 NGLY1 PC	3998 5091 55768 90411	Homo sapiens (human)
DOID:0070134	autosomal recessive cutis laxa type IIA Aliases: ARCL2A	ATP6AP1 ATP6V0A2 ATP6V1A 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 523 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:0110135	Bardet-Biedl syndrome 13 Aliases: BBS13	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:5692	cellular myxoid liposarcoma Aliases: Round cell liposarcoma	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:12306	vitiligo	ABO ACE ACHE ALOX12 C1GALT1C1 CALR3 CALR CANX CAT CBR1 CD44 COMT CYP21A2 FADS1 FADS2 G6PD GPX1 HPGDS ICAM1 IL1RAPL1 ISYNA1 KLRC1 MBL2 NEU1 PARP12 PARP1 PGD PGP PIK3CA PIK3CB PIK3CD PIK3CG PLCB3 PLCG2 PRNP PTGS2 SOAT1 TLR2 TLR4 TNF	11141 125972 1312 142 1589 1636 239 2539 27306 28 283871 2876 29071 3383 3821 3992 4153 43 4758 51477 5226 5290 5291 5293 5294 5331 5336 5621 5743 64761 6646 7097 7099 7124 811 821 847 873 9415 960	Homo sapiens (human)
DOID:0070202	familial partial lipodystrophy type 2 Aliases: FPLD2 familial lipodystrophy of limbs and lower trunk familial partial lipodystrophy Dunnigan type reverse partial lipodystrophy	LPL	4023	Homo sapiens (human)
DOID:1876	sexual dysfunction	ACE ALDH7A1 CYP19A1 CYP2B6 MDGA2 PGP	1555 1588 161357 1636 283871 501	Homo sapiens (human)
DOID:4961	bone marrow disease Aliases: bone marrow disorder	CNTN2 HPRT1 IL18RAP PGP PIK3CD PTGS2 SMUG1 TMTC1	23583 283871 3251 5293 5743 6900 83857 8807	Homo sapiens (human)
DOID:0110157	Charcot-Marie-Tooth disease type 2J Aliases: CMT2J Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities Charcot-Marie-Tooth neuropathy type 2J	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:6951	telangiectatic osteogenic sarcoma Aliases: Telangiectatic osteosarcoma	IDH2	3418	Homo sapiens (human)
DOID:11175	enophthalmos	ACHE ALG1 ALG9 ALPL B3GALT6 B4GALT7 COG4 EFNA5 FIG4 HAS2 ICAM1 PTEN SMUG1 UGDH XYLT1	11285 126792 1946 23583 249 25839 3037 3383 43 56052 5728 64131 7358 79796 9896	Homo sapiens (human)
DOID:5812	MHC class II deficiency Aliases: BLSII SCID due to absent class II HLA antigens bare lymphocyte syndrome type II	AMACR CD38 CEACAM5 CEACAM7 CYP2J2 EXTL3 FUT1 GPC5 HPSE IL18R1 LDHC LGALS1 MELTF NCAM1 NT5E PARP1 PDHX PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PNP PTEN PTGS2 SOAT1 SRGN	1048 10855 1087 142 1573 2137 2262 23600 2523 3948 3956 4241 4684 4860 4907 5238 5290 5291 5293 5294 5552 5728 5743 6646 8050 8809 952	Homo sapiens (human)
DOID:0050073	invasive aspergillosis	CYP2C19 MBL2 TLR4	1557 4153 7099	Homo sapiens (human)
DOID:10609	rickets Aliases: active rickets	ACE ALPL APRT BAAT CEACAM5 CEACAM7 CTNS CYP24A1 CYP27A1 CYP27B1 CYP2R1 CYP3A4 CYP7A1 DHCR7 EHHADH ENPP1 GALC GGT1 HSD11B2 HSD3B7 KL L1CAM MCAT OCRL PHOSPHO1 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 RGN SCD SFTPA1 SLC17A5 SLC2A2 TALDO1	1048 1087 120227 1497 1576 1581 1591 1593 1594 162466 1636 1717 1962 249 2581 26503 2678 27349 3291 353 3897 4952 5167 5290 5291 5293 5294 570 5743 6319 6514 653509 6888 80270 9104 9365	Homo sapiens (human)
DOID:13922	eosinophilic esophagitis	AGA AGXT ALOX15 ALOX5 ANXA5 CD1D CD44 CHIA CLC CLEC16A CYP2C19 ICAM1 IL18R1 IL1RL1 LALBA LCT LTC4S MPG OGDHL PRG2 PTGS2 SGSH SIGLEC8 SOAT1 VCAM1	1178 1557 175 189 23274 240 246 27159 27181 308 3383 3906 3938 4056 4350 5553 55753 5743 6448 6646 7412 8809 912 9173 960	Homo sapiens (human)
DOID:12858	Huntington's disease Aliases: HD Huntington disease Huntington's chorea	ABAT ACE ACHE ACO1 ACO2 ACSBG1 ALDH7A1 ALOX5 ALPI ALPP APRT ATRNL1 CAT CD14 CERS1 CHAT CHI3L1 CNTN1 COMT CS CYP3A4 CYP46A1 DGKE DHCR24 FCGR3B GAD2 GAPDH GBA2 GLO1 GLUL GPX1 GPX6 GPX7 GYS1 HACD1 HJV HPGDS HSD17B6 IDH1 IDUA IPMK KL LEP LGALS3 LPL MBL2 MGLL MRC1 MUTYH NAAA NCAM1 NT5E OGG1 PARP1 PC PGD PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PNP PPARGC1A PPT1 PRKAA1 PRKAA2 PRNP PTGS2 QPRT RENBP SGPL1 SIGLEC7 SIRT2 SIRT6 SLC2A3 SLC2A4 SLC39A8 SMUG1 SPHK1 SPHK2 SPTLC1 ST8SIA4 STS TM7SF2 TMED9 UCP2 UGT1A1	10558 10715 10858 10891 1103 1116 11343 1272 1312 142 1431 148738 1576 1636 1718 18 2215 22933 23205 23475 23583 240 248 250 253430 2572 257202 2597 26033 27036 27163 27306 2739 2752 2876 2882 2997 3417 3425 353 3952 3958 4023 412 4153 43 4360 4595 4684 48 4860 4907 4968 50 501 5091 51548 5226 5290 5291 5293 5294 5335 54658 54732 5538 5562 5563 5621 56848 5743 57704 5973 64116 6515 6517 7108 7351 7903 847 8526 8630 8877 8879 9200 929 9365	Homo sapiens (human)
DOID:0110545	autosomal dominant nonsyndromic deafness 13 Aliases: DFNA13 autosomal dominant deafness 13	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:0050645	arterial tortuosity syndrome	NT5E SLC2A10	4907 81031	Homo sapiens (human)
DOID:0110136	Bardet-Biedl syndrome 14 Aliases: BBS14	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:6886	ureter small cell carcinoma Aliases: ureteral small cell carcinoma	CHGA	1113	Homo sapiens (human)
DOID:8670	eating disorder	ACOT7 ARSD COMT DBT GPCPD1 SIGLEC7	11332 1312 1629 27036 414 56261	Homo sapiens (human)
DOID:6867	mediastinal gray zone lymphoma	FCER2	2208	Homo sapiens (human)
DOID:0110547	autosomal dominant nonsyndromic deafness 16 Aliases: DFNA16 autosomal dominant deafness 16	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)

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