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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 **2401 - 2425** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0111377	fetal akinesia deformation sequence syndrome 1 Aliases: FADS1	AGRN CNTN1 DPAGT1 GBA1 GBE1 PDHA1 PIGS	1272 1798 2629 2632 375790 5160 94005	Homo sapiens (human)
DOID:3606	ovarian mucinous adenocarcinoma Aliases: mucinous carcinoma of Ovary	CD44	960	Homo sapiens (human)
DOID:0060455	Thiel-Behnke corneal dystrophy Aliases: TBCD Waardenburg-Jonker corneal dystrophy anterior limiting membrane dystrophy type II corneal dystrophy honeycomb-shaped corneal dystrophy of Bowman layer type II	ACOT8	10005	Homo sapiens (human)
DOID:13543	hyperparathyroidism	ACE G6PD KL OCRL PLCB3 PTGS2 SDHB SMUG1	1636 23583 2539 4952 5331 5743 6390 9365	Homo sapiens (human)
DOID:0081180	autosomal recessive intellectual developmental disorder 12	ST3GAL3	6487	Homo sapiens (human)
DOID:4659	extracutaneous mastocytoma	CD44 CD72 ENPP3 HS2ST1 HSPG2 ICAM1 IDH2 MCAT PLA2G2E	27349 30814 3339 3383 3418 5169 960 9653 971	Homo sapiens (human)
DOID:0080533	Carney-Stratakis syndrome	SDHB SDHC SDHD	6390 6391 6392	Homo sapiens (human)
DOID:1294	vulva carcinoma Aliases: Vulvar carcinoma	ABO CD44 DCN PTEN PTGS2 SMUG1	1634 23583 28 5728 5743 960	Homo sapiens (human)
DOID:0070117	Meckel syndrome 3 Aliases: MKS3 Meckel-Gruber syndrome, type 3	ALG8 ALG9 ARF4 PGD PKD1 PKD2 UMOD	378 5226 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:4151	skull base chordoma Aliases: Chordoma of the Skull Base	LGALS3 LGALS9 PIK3CA PIK3CB PIK3CD PIK3CG	3958 3965 5290 5291 5293 5294	Homo sapiens (human)
DOID:0060253	scapuloperoneal myopathy	ALOX5	240	Homo sapiens (human)
DOID:0111898	CK syndrome Aliases: X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome	NSDHL	50814	Homo sapiens (human)
DOID:8533	hypopharynx cancer Aliases: Hypopharyngeal cancer malignant Hypopharyngeal tumor malignant neoplasm of hypopharynx malignant tumor of hypopharynx malignant tumour of hypopharynx	ACACB ADH1B AKR1A1 ALDH2 CALR CD44 CYP1A1 GAPDH SMUG1	10327 125 1543 217 23583 2597 32 811 960	Homo sapiens (human)
DOID:0070140	autosomal recessive cutis laxa type IIC	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:12053	cryptococcosis Aliases: Busse-Buschke's disease European cryptococcosis cryptococcal infection torula torulosis	ATP6V0A2 CD44 CHIA CHIT1 CLEC6A CLEC7A CYP51A1 FBP1 FCGR3B HACD1 HK2 ICAM1 LGALS3 MIOX MPI PCK1 PLB1 PRKAA2 SLC35A2 SMUG1 SOAT1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	1118 151056 1595 2203 2215 23545 23583 27159 3099 3383 3958 4351 5105 54575 54576 54577 54578 54579 54600 54657 54658 54659 55586 5563 56886 64581 6646 7355 9200 93978 960	Homo sapiens (human)
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:0080319	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Aliases: XMEN	CD22 CD38 KLRK1	22914 933 952	Homo sapiens (human)
DOID:0110228	cataract 8 multiple types Aliases: CCV CTRCT8 cataract, congenital, Volkmann type	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:0110827	Usher syndrome type 2 Aliases: USH2	ARSG ASAH1 PLD4	122618 22901 427	Homo sapiens (human)
DOID:10127	cerebral artery occlusion	ACACA ACE ACSM3 ADH1B ADPRS AKR1A1 ALDH2 ALDH7A1 ALOX5 CAT CD14 CYP11B2 CYP1A1 CYP2C19 CYP3A4 CYP3A5 CYP4A11 CYP4F2 EBP ENO1 ENO2 ENPP2 EPHX2 FCN1 G6PD GAL3ST1 GLUL GPI HPGDS HSPG2 ICAM1 IMPA1 ISYNA1 LCAT LGALS3 LPL MAG MGLL NAMPT OLR1 PARP1 PCYT1A PFKFB3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLA2G7 PRNP PTEN PTGIS PTGS1 PTGS2 RGMB RTN4R SELE SELP SFTPD SIGLEC7 SIRT2 SLC33A1 SLC35A1 SLC5A1 ST3GAL4 TBXAS1 TIGAR TM7SF2 UGCG XYLT2	10135 10327 10559 10682 11343 125 142 1543 1557 1576 1577 1579 1585 1636 2023 2026 2053 217 2219 22933 240 2539 27036 27306 2752 2821 285704 31 3339 3383 3612 3931 3958 4023 4099 4973 501 5130 51477 5168 5209 5290 5291 5293 5294 5321 54936 5621 57103 5728 5740 5742 5743 6296 6401 6403 64132 6441 6484 65078 6523 6916 7108 7357 7941 847 8529 9197 929 9514	Homo sapiens (human)
DOID:2986	IgA glomerulonephritis Aliases: Berger's IgA or IgG nephropathy Focal Glomerulonephritis IgA nephropathy primary IgA nephropathy segmental glomerulonephritis	ABO ACACA ACE ACSM3 ACYP2 ALOX5 B4GALT1 B4GALT7 C1GALT1 C1GALT1C1 CD14 CD44 CD55 CHGA CHPF CLEC14A CYP11B2 CYP19A1 CYP21A2 DCN EPHX2 FCGR3B GAPDH HPSE HSPG2 ICAM1 KL LMAN1 MAN2B1 MBL2 MPDU1 MPG MTM1 MTMR3 NEU1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G7 PLA2R1 PLB1 PTEN QTRT1 SACM1L SELE SELL SLC17A5 SLC3A1 ST6GAL1 ST6GALNAC2 STT3A TLR1 TNF UMOD VCAM1 VTCN1	10610 10855 1113 11285 142 151056 1585 1588 1589 1604 161198 1634 1636 2053 2215 22908 22925 240 2597 26503 2683 28 29071 31 3339 3383 3703 3998 4125 4153 4350 4534 4758 5290 5291 5293 5294 5319 56913 5728 6296 6401 6402 6480 6519 7096 7124 7369 7412 7941 79586 79679 81890 8897 929 9365 9526 960 98	Homo sapiens (human)
DOID:0110426	dilated cardiomyopathy 1D Aliases: CMD1D	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:9828	neonatal abstinence syndrome Aliases: Drug withdrawal syndrome in newborn	COMT CYP2B6	1312 1555	Homo sapiens (human)
DOID:4903	granular cell carcinoma Aliases: granular cell adenocarcinoma	A4GALT A4GNT ABO ACAT1 ACE ACOT7 ACSL4 ACSL5 ADH1C ADH4 ADH7 AKR1A1 AKR1B10 AKR1C2 AKR1C3 ALDH1A3 ALDH1B1 ALDH2 ALOX12 ALOX12B ALOX15B ALOX5 AMACR AMY1A AMY1B AMY1C ANXA5 ANXA7 APRT ATP6AP2 B3GALT1 B3GALT5 C1GALT1 CALR CAT CBR1 CD109 CD44 CD55 CDH13 CEACAM5 CEACAM6 CEACAM7 CEL CEMIP CHGA CHI3L1 CHPT1 CHST5 CNTN1 COMT CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27B1 CYP2E1 CYP2R1 CYP7B1 DAG1 DGKZ DHCR24 DHDDS DLD EFNA1 ENO1 ENO2 EPHX2 EXT1 FASN FCGR3B FDFT1 FOLR2 FUT4 G6PD GAL3ST1 GALNS GALNT3 GALNT6 GCNT1 GGT1 GPC1 GPC3 GPX1 GPX3 HAS1 HAS2 HAS3 HPGDS HPSE2 HPSE HSD11B1 HSD17B1 HYAL2 ICAM1 IDH1 IDH2 IGF2R INPP4B ISYNA1 ITLN1 KL KLRK1 LDHA LDHB LGALS3 LGALS4 LPL LTA4H LYPD5 LYZ MBD4 MCAT ME1 MGAM MGLL MICA MMP17 MRC1 MSLN MTAP MUTYH NAGLU NAMPT NCAM1 NEU1 NT5E OGG1 OLR1 OPCML PARP1 PCCA PCCB PDHX PDIA3 PFKFB3 PFKM PFKP PGAM1 PGD PGP PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLAUR PLCB1 PLCB2 PLCB3 PLCB4 PLCE1 PLCG1 PNPLA2 PRKAA2 PRNP PTEN PTGES2 PTGES3 PTGES PTGIS PTGS1 PTGS2 RECK RGN SCD SDC1 SDHB SFTPA1 SFTPA2 SFTPC SFTPD SHMT1 SI SIRT2 SIRT4 SLC2A10 SLC2A3 SLC2A4 SLC33A1 SLC5A1 SMC3 SMUG1 SOAT1 ST6GAL1 ST8SIA2 STS SULF2 TEX101 TKT TKTL1 TNFRSF10C TNKS2 TNKS TPI1 TYMP UGT2B17 UGT8 VCAM1 VTCN1	100507436 1012 10135 10159 10232 10317 10327 1048 1056 10728 10855 1087 1113 1116 11226 11332 11343 120227 126 127 1272 131 1312 135228 142 1543 1544 1545 1571 1585 1586 1588 1591 1594 1604 1605 1636 1646 1718 1738 1890 1942 2023 2026 2053 2131 217 2182 219 2194 220 2215 2222 22914 22933 23236 23409 2350 23563 23583 23600 239 240 242 247 2526 2539 2588 2591 2650 2678 2719 27306 27349 276 277 278 28 2817 283871 284348 2876 2878 2923 3036 3037 3038 308 310 3290 3292 3383 3417 3418 3482 353 38 3939 3945 3958 3960 4023 4048 4069 412 4199 4326 4360 4507 4595 4669 4680 4684 4758 4907 4968 4973 4978 5095 5096 51146 51196 51477 51703 5209 5213 5214 5223 5226 5290 5291 5293 5294 5315 5320 5321 5329 5330 5331 5332 5335 53947 55600 5563 55959 5621 56913 56994 57016 57104 57214 5728 5740 5742 5743 60495 6319 6382 6390 6440 6441 6470 6476 6480 6515 6517 6523 653509 6646 7086 7167 729238 7367 7368 7412 79679 79947 80142 80351 8050 81031 811 8128 8277 83639 8398 8399 8434 847 8525 8644 8658 8692 8708 873 8794 8821 8930 8972 9104 9126 9197 9365 9420 9514 9536 960	Homo sapiens (human)
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	B3GALT6 B4GALT7 DCN HSPG2 PRG2 VCAN	11285 126792 1462 1634 3339 5553	Homo sapiens (human)

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