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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 **276 - 300** of **4621** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0060023	immunodeficiency with hyper IgM type 3 Aliases: CD40 deficiency HIGM3 hyper-IgM syndrome due to CD40 deficiency type 3 hyper-IgM immunodeficiency	CHI3L1 FCER2 MRC1 UNG	1116 2208 4360 7374	Homo sapiens (human)
DOID:0060025	immunoglobulin alpha deficiency Aliases: IgA deficiency gamma-A-globulin deficiency	AGA CLEC16A CYP21A2 FUT2 FUT3 MBL2 PTEN SDC1	1589 175 23274 2524 2525 4153 5728 6382	Homo sapiens (human)
DOID:0060041	autism spectrum disorder	ABAT ACACA ACAN ACSM3 ALDH1A3 AMT AMY1A AMY1B AMY1C ARSA ARSD B3GLCT BST1 CAT CD38 CDH13 CHAT CLEC7A CNTN2 CNTN4 CNTN5 CNTN6 COMT CS CYP11A1 CYP11B1 CYP11B2 CYP19A1 CYP1A2 CYP1B1 CYP27A1 CYP2C19 CYP2E1 CYP2R1 DGCR2 DHCR24 DHCR7 ELOVL2 ENO2 EPHX2 EXT1 FADS1 FADS2 FH FOLR1 FOLR2 GAD1 GAD2 GALNT17 GLO1 GLUL HAGH HPGDS HTR2A IDS IL1RAP IL1RAPL1 IL1RAPL2 L1CAM LDHB LYZ MACROD2 MBOAT7 MRC1 NCAM1 NDST1 NDST2 NDST3 NDST4 NTM OGG1 PAFAH1B1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G12A PLA2G4C PLAUR PLCB1 POMGNT1 PTEN PTGES3 PTGES PTGS1 PTGS2 RTN4R SCD SDC4 SLC25A12 SLC2A3 SLC33A1 SLC35A3 SOAT1 ST8SIA2 STS TM7SF2 TPI1 UGT1A1 UPP2	1012 10728 1103 11141 120227 1312 140733 1431 145173 151531 152330 1544 1545 1557 1571 1583 1584 1585 1588 1593 1717 1718 176 18 2026 2053 2131 220 2271 23236 23443 2348 2350 2571 2572 26280 27255 27306 2739 275 2752 276 277 278 3029 31 3340 3356 3423 3556 3897 3945 3992 4069 410 412 414 4360 4684 4968 5048 50863 5130 5290 5291 5293 5294 5311 5329 53942 54658 54898 55624 5728 5742 5743 6296 6319 6385 64409 64579 64581 65078 6515 6646 683 6900 7108 7167 79143 8128 81579 847 8509 8604 8605 9197 9348 9415 952 9536 9993	Homo sapiens (human)
DOID:0060046	aphasia	CPM L1CAM PRNP	1368 3897 5621	Homo sapiens (human)
DOID:0060050	autoimmune disease of blood	C1GALT1	56913	Homo sapiens (human)
DOID:0060055	popliteal pterygium syndrome Aliases: facio-genito-popliteal syndrome popliteal web syndrome	B3GLCT POFUT2	145173 23275	Homo sapiens (human)
DOID:0060058	lymphoma Aliases: lymphoid cancer	ABO ACAA1 ACACA ACE ACOX1 ACSBG1 ACSF3 AKR1A1 AKR1C1 AKR1C3 ALG1 ALOX12 ALPI ALPP AMT ANXA5 APRT ATRNL1 CALR CANX CAT CD14 CD1D CD22 CD33 CD38 CD44 CD48 CD55 CD74 CDH13 CEL CFC1 CHPT1 CLEC10A CNTN2 COMT CYP17A1 CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 CYP3A4 DHDDS ENO2 ENOSF1 EPHX2 EPM2A FCER2 FCGR3B FCN2 FH FMOD G6PD GBA1 GCSH GGT1 GLB1 GPC5 GPI GPX1 HEXA HK2 HMMR HPGDS HPRT1 HPSE HYAL2 ICAM1 IDH1 IDH2 IL1R1 IL1RL1 INPP4B INPP5D ISYNA1 KLRC1 KLRD1 KLRK1 LDHA LGALS1 LGALS3 LGALS9 LY6K MASP2 MBL2 MCAT MLYCD MRC1 MTAP NAMPT NCAM1 NDUFAB1 NTHL1 OGG1 OPCML PAFAH1B1 PAFAH1B2 PARP1 PARP4 PARP9 PC PGM3 PGP PIGK PIK3CA PIK3CB PIK3CD PIK3CG PLCG2 PLD2 PLOD3 PNP PPP1R3A PTEN PTGDS PTGES PTGS2 RTN4R SDC1 SELE SELL SHMT1 SHMT2 SLC27A5 SLC2A3 SLC35A2 SLC35B2 SMC3 SMUG1 SOAT1 SPHK2 ST6GALNAC5 STS SULT1E1 TIGAR TKTL1 TMEM260 TMTC3 TNFRSF10C UNG VCAM1 VTCN1	10026 1012 10135 10327 10462 1056 10747 10855 10998 1312 142 143 1543 1545 1555 1559 1571 1576 1586 1591 1594 1604 160418 1636 1645 197322 2026 2053 2208 2215 2220 2262 2271 22914 23205 2331 23417 23583 239 248 250 2539 26033 2629 2653 2678 2720 27306 27349 275 28 2821 283871 2876 30 3073 308 3099 31 3161 3251 3383 3417 3418 347734 353 3554 3635 3821 3824 3939 3956 3958 3965 412 4153 4360 4507 4684 4706 4860 4913 4968 4978 5048 5049 5091 51 51477 5238 5290 5291 5293 5294 5336 5338 54742 54916 5506 55556 55997 56052 56848 56994 57103 5728 5730 5743 6382 6401 6402 6470 6472 65078 6515 6646 6783 6900 7355 7374 7412 7957 79679 79947 811 81849 821 8277 83666 847 8644 8692 8794 8821 8985 912 9126 9173 929 933 945 952 9536 960 962 972	Homo sapiens (human)
DOID:0060060	non-Hodgkin lymphoma	ACAA1 ACACA ACE ACSBG1 AKR1A1 AKR1C1 AKR1C3 ALPP ANXA5 ANXA7 APRT ATRNL1 CAT CD14 CD22 CD33 CD38 CD44 CD55 CDH13 CFC1 COMT CYP17A1 CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 EPHX2 FCGR3B FCN2 FH G6PD GBA1 GPX1 HPGDS ICAM1 IDH1 IDH2 IGF2R KLRK1 LGALS1 LGALS3 MASP2 MCAT MTAP NCAM1 NTHL1 OGG1 PAFAH1B1 PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SELE SELL SHMT1 SHMT2 SLC35B2 SMUG1 SOAT1 TMEM260 VCAM1 VTCN1	1012 10327 10747 1312 142 1543 1545 1555 1559 1571 1586 1591 1594 1604 1636 1645 2053 2215 2220 2271 22914 23205 23583 250 2539 26033 2629 27306 27349 2876 30 308 31 310 3383 3417 3418 347734 3482 353 3956 3958 4507 4684 4913 4968 5048 5091 5290 5291 5293 5294 54916 55997 5728 5743 6401 6402 6470 6472 6646 7412 79679 847 8644 929 933 945 952 960	Homo sapiens (human)
DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma Aliases: cutaneous T cell lymphoma cutaneous T-cell lymphoma	ANXA5 CD22 CD44 CHI3L1 CNTN2 LGALS1 LGALS9 MBL2 MTAP NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLCG1 PTEN PTGS2 SDC4 SELL SIRT2 SOAT1 TIGAR	1116 22933 308 3956 3965 4153 4507 4684 5290 5291 5293 5294 5315 5335 57103 5728 5743 6385 6402 6646 6900 933 960	Homo sapiens (human)
DOID:0060062	familial juvenile hyperuricemic nephropathy	UMOD	7369	Homo sapiens (human)
DOID:0060063	sideroblastic anemia 1 Aliases: X-linked sideroblastic anaemia X-linked sideroblastic anemia XLSA sideroblastic anaemia 1	SUCLA2	8803	Homo sapiens (human)
DOID:0060067	Pearson syndrome Aliases: Pearson Marrow-Pancreas Syndrome	ACADL ACADVL CHPT1 CPT1A CPT1B CPT2 LPIN1	1374 1375 1376 23175 33 37 56994	Homo sapiens (human)
DOID:0060071	pre-malignant neoplasm	ACE SFTPD TP53	1636 6441 7157	Homo sapiens (human)
DOID:0060074	ductal carcinoma in situ	AKR1C3 PTGES PTGS2 TFF1 TP53 TYMP	1890 5743 7031 7157 8644 9536	Homo sapiens (human)
DOID:0060075	estrogen-receptor positive breast cancer	PIK3CA	5290	Homo sapiens (human)
DOID:0060076	estrogen-receptor negative breast cancer	CYB5R3	1727	Homo sapiens (human)
DOID:0060098	osteoblastoma	APRT CHI3L1	1116 353	Homo sapiens (human)
DOID:0060108	brain glioma Aliases: lower grade glioma	GAPDH	2597	Homo sapiens (human)
DOID:0060119	pharynx cancer Aliases: pharyngeal neoplasm pharynx neoplasm	ADH1A ADH1B ADH1C ADH4 ADH5 ADH7 AKR1A1 CYP1A1 CYP2E1 PIK3CA	10327 124 125 126 127 128 131 1543 1571 5290	Homo sapiens (human)
DOID:0060123	connective tissue benign neoplasm Aliases: mesenchymal tissue neoplasm neoplasm of soft tissue neoplasm of soft tissues soft tissue benign neoplasm tumor of the soft tissue	IDH1 IL1R1 NANS OGA SMUG1	10724 23583 3417 3554 54187	Homo sapiens (human)
DOID:0060125	heavy chain disease	ASAH2 SDC1	56624 6382	Homo sapiens (human)
DOID:0060127	gamma heavy chain disease Aliases: Franklin's disease	ASAH2	56624	Homo sapiens (human)
DOID:0060135	apraxia	ATP6AP2 COG4 EPM2A GCK GPAA1 PRNP	10159 25839 2645 5621 7957 8733	Homo sapiens (human)
DOID:0060158	acquired metabolic disease	PNPLA2 PNPLA3	57104 80339	Homo sapiens (human)
DOID:0060160	childhood spinal muscular atrophy Aliases: spinal muscular atrophies of childhood survival motor neuron spinal muscular atrophy	APRT HEXA HSPG2	3073 3339 353	Homo sapiens (human)

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