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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 **5901 - 5925** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0060363	glycerol kinase deficiency	GK2 GK	2710 2712	Homo sapiens (human)
DOID:263	kidney cancer Aliases: malignant neoplasm of kidney except pelvis malignant tumour of kidney renal cancer	ABO ACE ACHE ACO2 ACYP2 AKR1C3 ALDH9A1 ALOX5 AMACR ANXA5 APRT CAT CD44 CD74 CEACAM5 CEACAM7 COMT CYP11B1 CYP11B2 CYP17A1 CYP1A1 CYP1B1 CYP3A4 CYP4F3 DHCR24 FASN FH G6PD GLO1 GPX1 HPGDS ICAM1 IDH1 KL L1CAM LDHA LGALS3 ME1 MICA MRC1 NAMPT NT5E OGG1 PDHX PGP PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2R1 PLCG2 PPARGC1A PTEN PTGS2 RGN SDHB SDHD SMUG1 SORD SPHK1 ST6GALNAC6 UGT2B7 VCAM1 VCAN	100507436 10135 1048 1087 10891 1312 1462 1543 1545 1576 1584 1585 1586 1636 1718 2194 223 2271 22925 23583 23600 240 2539 27306 2739 28 283871 2876 308 30815 3383 3417 353 3897 3939 3958 4051 4199 43 4360 4907 4968 50 5290 5291 5293 5294 5310 5315 5336 5728 5743 6390 6392 6652 7364 7412 8050 847 8644 8877 9104 9365 960 972 98	Homo sapiens (human)
DOID:0081120	Graves ophthalmopathy Aliases: Graves orbitopathy Thyroid associated ophthalmopathy thyroid eye disease	CAT ICAM1 TNF	3383 7124 847	Homo sapiens (human)
DOID:8670	eating disorder	ACOT7 ARSD COMT DBT GPCPD1 SIGLEC7	11332 1312 1629 27036 414 56261	Homo sapiens (human)
DOID:0070138	autosomal recessive cutis laxa type IIIB Aliases: ARCL3B De Barsy syndrome B	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:0070219	familial hyperinsulinemic hypoglycemia 1 Aliases: HHF1	CEL EHHADH GCK HADH HAO1 HAO2 MCAT MPI PDHX PGM1 PMM2	1056 1962 2645 27349 3033 4351 51179 5236 5373 54363 8050	Homo sapiens (human)
DOID:14447	gonadal dysgenesis Aliases: Gonadal dysgenesis syndrome	ASAH1 CAT CD38 CYP19A1 CYP21A2 GAPDH HSD17B4 INPPL1 MBL2 MOGS NT5E PCYT1A PGD RXYLT1 SMC3 SRD5A2	10329 1588 1589 2597 3295 3636 4153 427 4907 5130 5226 6716 7841 847 9126 952	Homo sapiens (human)
DOID:3620	central nervous system cancer Aliases: CNS neoplasm central nervous system tumor central nervous system tumors malignant neoplasm of central nervous system malignant tumor of CNS neoplasm of central nervous system	ACAT1 ACE ACOD1 ACOT7 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSS2 ACYP2 AGK AGPS AKR1B1 ALDH1A3 AMACR ANXA5 ANXA7 APRT ART1 ATP6AP2 ATRN B4GALT5 BCAN BDH1 CACNA2D3 CALR CAT CD109 CD44 CD48 CD74 CD93 CDH13 CEACAM5 CERS1 CHI3L1 CHKA CHPF CHPT1 CHSY3 CLC CLEC5A CNTFR CNTN1 CNTN2 COL9A2 CSPG4 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 CYP2J2 DAG1 DBT DCN DHCR24 DHDDS DPEP1 EBP EFNA1 ELOVL2 ENO1 ENOSF1 EXT1 FASN FBP1 FMOD FUT4 G6PD GAD1 GAL3ST1 GALNT2 GALNT7 GAPDH GAS1 GLB1 GLDC GLO1 GLUL GOLPH3 GPC1 GPC5 GPD1 GPD2 GPI GPIHBP1 GPNMB GPX1 HAS2 HEXA HEXB HK1 HK2 HMMR HPGDS HPSE HSPG2 HYAL1 HYAL2 HYAL3 ICAM1 IDH1 IDH2 IL18R1 IMPA1 ISYNA1 ITPKA KHK KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 LPL LSS LYZ MAG MBD4 MBL2 ME1 MELTF MGAT1 MGAT5 MICA MMUT MPG MPI MRC1 MTAP MTMR3 MUTYH NAMPT NANS NT5E OPCML OXCT1 PARP1 PDIA3 PFKFB4 PGAM1 PGK1 PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PKM PLA2G4C PLA2G5 PLAUR PLCB1 PLCG1 PLD1 PLD2 PLEKHA8 PLOD3 PNLIP PNPLA2 PRKAA2 PRNP PRSS8 PSAP PSMD10 PTEN PTGES PTGS1 PTGS2 RECK RTN4R SCD SDC1 SDC2 SDHB SDHC SDHD SEMA7A SGMS1 SGMS2 SHMT2 SIGLEC7 SIRT2 SIRT6 SLC2A3 SLC2A5 SLC35A1 SLC35A3 SLC37A4 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SPTLC1 SRD5A1 SRGN ST6GAL1 ST6GALNAC5 ST8SIA1 SUCLG1 SULF2 THEM4 TIGAR TKT TKTL1 TM7SF2 TMED5 TNFRSF10C TPI1 TREH TUSC3 TYMP UGP2 UGT8 VCAM1 VCAN	100507436 1012 10135 10159 10457 1048 10558 10559 10682 10715 10855 1116 11181 1119 11332 117145 1178 1271 1272 1298 135228 142 1462 1464 1543 1545 1555 1559 1571 1573 1586 1588 1594 1605 1629 1634 1636 166929 1718 1800 1890 1942 2023 2131 2180 2181 2182 2194 220 2203 2262 22914 22918 22933 231 23205 23236 2331 23443 23583 23600 23601 2526 2539 2542 2571 2590 259230 2597 2619 27036 2720 27306 2731 2739 2752 2817 2819 2820 2821 2876 2923 3037 3073 3074 308 3098 3099 310 3161 3339 3373 337876 3383 338328 3417 3418 353 3612 3706 3795 38 3897 3939 3956 3958 3965 4023 4047 4069 4099 4153 417 4199 4241 4245 4249 4350 4351 4360 4507 4594 4595 4907 4978 5019 50999 51477 51548 51703 51809 5210 5223 5230 5287 5289 5290 5291 5293 5294 5310 5311 5315 5322 5329 5335 5337 5338 5406 54187 54898 5552 55556 5563 55750 55799 55902 55959 5621 5652 5660 56848 56994 57103 57104 5716 5728 5742 5743 622 6319 6382 63827 6383 6390 6391 6392 64083 6472 6480 6489 65078 6515 6518 6609 6646 6715 6900 7086 7108 7167 730249 7360 7368 7412 79586 7991 79947 811 81849 8277 8372 8434 8455 847 84725 8482 8540 8605 8692 8794 8802 8809 8877 8897 8930 8985 9334 9514 9536 960 962 972 98	Homo sapiens (human)
DOID:4310	smooth muscle tumor	CD44 FH LGALS3 SMUG1	2271 23583 3958 960	Homo sapiens (human)
DOID:3304	germinoma	ACE AKR1C1 AKR1C3 ALPP AMACR ATRNL1 BRAF CALR CD44 CLEC10A CYP19A1 DHDH GOLPH3 GPC3 HPGDS IDH2 LGALS3 LIPG LPL PARP1 PCYT1A PIGF PIK3CA PIK3CB PIK3CD PIK3CG PRSS21 PSMD10 PTEN SLC2A3 SMUG1 TKTL1	10462 10942 142 1588 1636 1645 23583 23600 250 26033 2719 27294 27306 3418 3958 4023 5130 5281 5290 5291 5293 5294 5716 5728 64083 6515 673 811 8277 8644 9388 960	Homo sapiens (human)
DOID:0050459	hyperphosphatemia	ADH1B CYP11B2 CYP24A1 CYP27B1 GALNT3 KL PGAP2 PIK3C2A SHMT1 SMPD3	125 1585 1591 1594 2591 27315 5286 55512 6470 9365	Homo sapiens (human)
DOID:12119	hemosiderosis Aliases: haemosiderosis	ACSM3	6296	Homo sapiens (human)
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	ACAN ALPL ATP6V0A2 B3GALT4 B3GALT6 B4GALT7 BAAT CD38 CD44 CHST14 COL9A2 CYP21A2 CYP27B1 CYP2R1 DCN DSE ENPP1 FAM20B MTAP OCRL PAPSS2 PNPLA2 PTGS2 SMPD3 XYLT1	11285 113189 120227 126792 1298 1589 1594 1634 176 23545 249 29940 4507 4952 5167 55512 570 57104 5743 64131 8705 9060 952 960 9917	Homo sapiens (human)
DOID:0110404	retinitis pigmentosa 17 Aliases: RP17	CA4	762	Homo sapiens (human)
DOID:0090139	cortisone reductase deficiency Aliases: CORTRD	CYP2B6 H6PD HSD11B1	1555 3290 9563	Homo sapiens (human)
DOID:4471	chromophobe renal cell carcinoma Aliases: Chromophobe carcinoma of kidney chromophobe adenocarcinoma kidney chromophobe renal cell carcinoma, chromophobe cell	ACACA ACADM ACAT1 ACAT2 ACE ACHE ACLY ACOT7 ACSL1 ACSS1 ACSS2 ACYP2 ADH7 AKR1A1 AKR1C3 ALDH3B1 ALDH6A1 ALDH9A1 ALDOA ALDOB ALOX12 ALOX12B ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ATRNL1 B3GALT6 B3GAT1 B4GALNT1 BST2 CA4 CALR CAT CD14 CD1D CD209 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHI3L1 CHI3L2 CHPT1 CHSY1 CLEC1B CMAS COMT CRPPA CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP3A5 DAG1 DCN DHCR24 DHDDS DLD DLST EBP ECHS1 EFNA1 ENO1 ENO2 ENPP2 ENPP3 FBP1 FCGR3B FH FPGT FUT11 FUT3 FUT4 G6PC1 G6PD GAD1 GAL3ST1 GALNT2 GALNT3 GAPDH GAS1 GGT1 GNE GNPTAB GOLPH3 GPC3 GPI GPNMB GPX1 GPX3 HAO2 HAS1 HK2 HMMR HPGDS HPSE HSD11B2 HSD17B6 ICAM1 IDH1 IDUA IL18R1 IMPA2 INPP4B KDSR KHK KL KLRC1 L1CAM L2HGDH LDHA LDHB LDHC LDHD LGALS1 LGALS3 LGALS8 LGALS9 LIPA LMAN2L LPCAT1 LY6G6D LYPD5 MAN1C1 MCAT MDH2 MGAT3 MGAT5 MGAT5B MICA MINPP1 MMUT MPPE1 MRC1 MTAP NAMPT NDST1 NEU1 NEU3 NT5E NUDT5 OGG1 OGT PAFAH1B1 PARP1 PDHB PDIA3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PKM PLA2G15 PLA2R1 PLAUR PLD1 PLD2 POGLUT3 PPAT PRKAA2 PRNP PRSS8 PSMD10 PTEN PTGS1 PTGS2 RGN SCD SDC1 SDC3 SDHA SDHB SDHC SDHD SELE SELP SIRT2 SIRT6 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35G2 SMUG1 SOAT1 SORD SPHK1 SPTLC1 ST3GAL2 ST3GAL4 ST8SIA4 STS SULF2 TIGAR TM7SF2 TMED3 TMED9 TUSC3 TYMP UGT1A1 VCAM1 VCAN VTCN1 XPNPEP2	10020 100507436 1012 10135 10327 10457 1048 10558 10682 10825 10855 1087 1116 11164 1117 11332 120227 126792 131 1312 142 143888 1462 146664 1543 1545 1577 1591 1594 1605 1634 1636 170384 1718 1738 1743 1890 1892 1942 197257 2023 2026 2180 2203 221 2215 223 226 2271 22856 229 22925 22933 23423 23583 23600 23659 23761 239 240 242 248 250 2525 2526 2531 2538 2539 2571 2583 2590 2591 2597 26033 2619 2678 27087 2719 27306 27349 2821 284348 2876 2878 2923 3036 307 308 30835 3099 31 3161 3291 3340 3383 34 3417 3425 353 3613 3795 38 3821 3897 39 3939 3945 3948 3956 3958 3964 3965 3988 412 4191 4248 4249 43 4329 4360 4507 4594 4680 47 4758 4907 4968 5048 51179 51266 51548 5162 5168 5169 5230 5290 5291 5293 5294 5315 5329 5337 5338 54658 5471 54732 5563 55902 55907 55959 5621 5652 56994 57103 57134 5716 57214 5728 5742 5743 58530 6319 6382 6389 6390 6391 6392 6401 6403 64083 6483 6484 6514 6515 6517 6518 65258 6646 6652 684 7108 729920 7412 7512 762 7903 79158 79679 79888 7991 79944 79947 80723 811 81562 84532 847 8473 8630 8644 8790 8809 8821 8877 9104 912 929 9365 9514 952 9562 960 9672 972 98	Homo sapiens (human)
DOID:0050795	cone dystrophy Aliases: retinal cone dystrophy	CACNA2D4	93589	Homo sapiens (human)
DOID:819	mediastinitis	ARSA	410	Homo sapiens (human)
DOID:5289	uterus leiomyosarcoma Aliases: leiomyosarcoma of Corpus Uteri	CBR1 CD38 FH PIK3CA PTEN SDC1 SMUG1	2271 23583 5290 5728 6382 873 952	Homo sapiens (human)
DOID:9164	achalasia Aliases: Lack of reflex relaxation of lower oesophageal sphincter achalasia of cardia achalasia of esophagus cardiospasm esophageal achalasia hypertensive lower esophageal sphincter	AGA CALR ECI1 FUT3 GMPPA	1632 175 2525 29926 811	Homo sapiens (human)
DOID:0111231	congenital muscular dystrophy-dystroglycanopathy type A8 Aliases: MDDGA8 Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8	CRPPA POMGNT2	729920 84892	Homo sapiens (human)
DOID:14503	neuronal ceroid lipofuscinosis Aliases: hereditary ceroid lipofuscinosis	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PKD1 PPT1 PPT2 PSAP SCP2	1203 22901 2571 2572 3956 47 5310 5538 5660 6342 7957 9374	Homo sapiens (human)
DOID:4603	epidermolytic hyperkeratosis Aliases: Bullous ichthyosiform erythroderma Epidermolytic palmoplantar hyperkeratosis epidermolytic ichthyosis	ALOX12B STS	242 412	Homo sapiens (human)
DOID:4964	neurotic disorder Aliases: Neurotic depression reactive type Neurotic depressive state Psychoneurosis depressive neurosis neurosis neurotic depression reactive depression	ABAT ABO ACACA ACACB ACE ACHE ACOT7 ACOX1 ACSL4 ACSM1 ACSS2 ADH1B ADH1C AKR1A1 AKR1C2 AKR1C4 ALDH2 ALDH3A1 ALDH7A1 ALG8 ALOX5 ALPL AMACR AMT AMY1A AMY1B AMY1C ANXA4 APRT ARSA ARSD ARSG ARSI ATP6AP2 B3GALNT2 B3GAT1 BST1 CACNA2D1 CALR CAT CD38 CDH13 CHAT CHPF CHPT1 CLEC4E CNTN3 CNTN5 COL9A2 COMT CPT1A CRLS1 CS CSPG4 CYP19A1 CYP1A2 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP46A1 DEGS1 DGKB DGKG DGKH DHDDS DLD EDEM1 ENO2 EPM2A FADS1 FADS2 FDPS FIG4 GAD1 GAD2 GALC GBA1 GLA GLO1 GLT8D1 GLUL GOLPH3 GPC6 GPI GPX1 HACD3 HPGDS HPSE HS6ST1 HSD11B1 ICAM1 IDS IDUA IL1R1 IMPA2 INPP5K INPPL1 KL L1CAM LDHA LGALS1 LGALS3 LIPA LMAN2L LPGAT1 LTA4H M6PR MAG MAN1B1 MBOAT7 MCAT MDGA1 MDGA2 MDH2 ME1 MPG MPI MUTYH NANS NCAM1 NCAN NDST1 NDST3 NEIL1 NT5E NTM OCRL OGG1 OPCML PAFAH1B1 PARP14 PARP1 PDIA3 PFKFB3 PGAP1 PGD PGP PIGC PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PLCB1 PLCB4 PNPLA2 PNPLA6 PPP1R3B PPP1R3C PPT1 PRNP PSAP PTEN PTGDS PTGS1 PTGS2 RGN SCD SDHD SELP SGMS2 SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC2A4 SLC33A1 SLC35G1 SMPD1 SMUG1 SOAT1 SRD5A1 ST3GAL3 ST3GAL4 ST8SIA4 SUCLA2 SULT1E1 TECR TGDS TNKS2 TNKS TUSC3 UGCG VCAM1 XYLT2	10082 1012 10159 10327 10855 10858 10908 1103 1109 11253 11332 116285 125 126 1298 1312 1374 142 1431 1463 1464 148789 151056 1544 1555 1557 1559 1571 1576 1588 1593 159371 1607 1608 160851 161357 1636 1646 166929 1738 18 2026 217 218 2182 2224 22901 22933 23236 23483 23583 23600 23659 240 249 2571 2572 2581 26253 2629 26503 266727 27036 27087 2717 27306 27349 2739 275 2752 276 277 278 28 2821 283871 2876 2923 307 31 32 3290 3340 3383 340075 3423 3425 353 3554 3613 3636 3897 3939 3956 3958 3988 3992 4048 4074 4099 410 414 4191 4199 43 4350 4351 4595 4684 4907 4952 4968 4978 501 5048 5067 50863 51 51495 51548 51763 5209 5226 5279 5290 5291 5293 5294 5319 5320 5321 5332 53942 54187 54625 54675 5507 5538 55830 55902 5621 5660 56994 57104 5728 5730 5742 5743 6319 6392 6403 64083 64132 6484 6487 6517 6609 6646 6715 6783 683 7357 7412 781 7903 79053 79143 7957 79586 79660 79661 7991 79947 80055 80351 811 81562 8398 847 8560 8658 8803 9104 9197 9348 9365 9394 9415 952 9524 9695 9896 9926	Homo sapiens (human)
DOID:8941	seborrheic infantile dermatitis Aliases: Complement 5 dysfunction Generalized seborrheic dermatitis of infants Infantile seborrheic dermatitis Infantile seborrhoeic dermatitis Pityriasis capitis Seborrhea sicca Seborrhoea capitis Seborrhoeic dermatitis of scalp Seborrhoeic eczema of scalp cradle cap seborrhea capitis	COMT CYP51A1 PIK3CA	1312 1595 5290	Homo sapiens (human)

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