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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 **826 - 850** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:3079	childhood astrocytic tumor Aliases: juvenile astrocytoma pediatric astrocytoma	CHST15 ENPP1 GLB1 GOLPH3 IDH1 IDH2 LGALS3 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SDHA	142 2720 3417 3418 3958 51363 5167 5290 5291 5293 5294 5728 6389 64083	Homo sapiens (human)
DOID:0060842	isolated microphthalmia 3 Aliases: MCOP3	ALDH1A3	220	Homo sapiens (human)
DOID:0112182	mismatch repair cancer syndrome Aliases: BTP1 syndrome BTPS1 CMMR-D syndrome CMMRDS MMR deficiency Turcot syndrome brain tumor-polyposis syndrome 1 childhood cancer syndrome constitutional mismatch repair deficiency syndrome	TP53	7157	Homo sapiens (human)
DOID:2436	glomangioma Aliases: Glomuvenous Malformation	SDHB SDHD	6390 6392	Homo sapiens (human)
DOID:0090062	familial cold autoinflammatory syndrome 1	HPSE PLCG2	10855 5336	Homo sapiens (human)
DOID:1076	chronic pyelonephritis	CD55 NAGLU UMOD	1604 4669 7369	Homo sapiens (human)
DOID:0111167	Dyggve-Melchior-Clausen disease Aliases: DMC disease pseudo-Morquio disease type I	PTGS2	5743	Homo sapiens (human)
DOID:0080087	nonsyndromic congenital nail disorder 9	ALG3 DPM1 EXT2 GPC3 PLOD3	10195 2132 2719 8813 8985	Homo sapiens (human)
DOID:0080240	non-syndromic X-linked intellectual disability 106 Aliases: MRX106 X-linked mental retardation 106	OGT	8473	Homo sapiens (human)
DOID:8923	skin melanoma Aliases: cutaneous melanoma malignant ear melanoma malignant lip melanoma malignant lower limb melanoma malignant melanoma of ear and/or external auricular canal malignant melanoma of skin of lower limb malignant melanoma of skin of trunk except scrotum malignant melanoma of skin of upper limb malignant neck melanoma malignant scalp melanoma malignant trunk melanoma malignant upper limb melanoma	ACE ACER3 ACHE ACO1 ACSL3 AKR1B10 ALDH1A3 ALDH3A1 ALDH7A1 ALOX12 ALOX5 ALPI ALPP AMACR ANXA5 ANXA7 ANXA9 APRT ARSB ART3 ASAH1 B3GAT1 B4GALNT1 BST2 CALR CANX CAT CD14 CD1D CD22 CD248 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM7 CERS2 CERS6 CH25H CHI3L1 CLEC10A CLEC14A CLEC1B CMAS CPT1A CPT1C CRYBG1 CSGALNACT1 CSPG4 CYP19A1 CYP1B1 CYP21A2 CYP24A1 CYP27B1 CYP2B6 CYP2E1 CYP2R1 DBT DERA DGKA DGKI DHCR24 EBP ECHDC1 EDEM1 EFNA1 ELOVL2 ENO2 ENPP1 FASN FCGR3B FDFT1 FDPS FOLR2 FUT1 FUT2 FUT4 FUT8 G6PD GALNT14 GALNT3 GAPDH GAPDHS GAS1 GBE1 GCNT2 GCNT3 GFRA1 GGT1 GLB1 GLO1 GLT8D1 GNS GOLPH3 GPAM GPAT2 GPC3 GPC6 GPLD1 GPNMB GPX1 GPX3 HADHB HAS2 HAS3 HK1 HMGCL HPGDS HPRT1 HPSE HS2ST1 HS3ST5 HSD11B1 HSD11B2 HSD17B12 HSPG2 HYAL2 ICAM1 IDH1 IDH2 IDUA IGF2R IL18R1 IL1RAPL1 INPP4B INPP5D INPP5E INPP5K ISYNA1 KL KLRB1 KLRC1 KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 LIPA LTA4H LYPD5 LYPLA1 LYPLA2 MAG MCAT MDH2 MELTF MGAT5 MGLL MICA MMP25 MOGS MPG MPPE1 MRC1 MTAP MUTYH NAMPT NCAM1 NEU1 NGLY1 NT5E OGG1 OS9 PARP1 PC PCK2 PCYT1A PDHB PDIA3 PFKFB2 PFKFB3 PFKFB4 PGK1 PIGU PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PKD1 PKM PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLAUR PLCB2 PLCB4 PLD1 PNP PNPLA2 PPP1R3B PRKAA2 PRNP PSMD10 PTEN PTGDS PTGES PTGS1 PTGS2 PYGM RECK RPE RTN4R SCD5 SCD SDC1 SDC2 SDC4 SDHA SDHB SDHC SDHD SELE SELL SEMA7A SGMS1 SIGLEC1 SIGLEC7 SIGLEC9 SIRT2 SIRT6 SLC17A5 SLC2A2 SLC2A3 SLC33A1 SMPD1 SMUG1 SOAT1 SPAM1 ST3GAL4 ST6GALNAC2 ST8SIA1 STS SULF1 TKTL1 TMED5 TNFRSF10C TPI1 UGT8 VCAM1 VCAN VTCN1	100507436 10082 1012 10135 10434 10457 10462 1048 10610 10682 10855 1087 10956 11141 1116 11313 11343 120227 126129 128869 1374 142 1462 1464 150763 1545 1555 1571 1588 1589 1591 1594 1606 161198 1629 1636 1718 1942 202 2026 218 2181 2194 220 2215 2222 2224 222537 22914 22933 23213 2350 23583 23600 239 240 248 250 2523 2524 2526 2530 253782 2539 2583 2591 259230 2597 2619 2632 26330 26503 2651 2674 2678 27036 27087 27180 2719 2720 27306 27349 2739 2799 2822 284348 2876 2878 2923 29956 3032 3037 3038 308 3098 310 3155 3251 3290 3291 3339 3383 3417 3418 3425 3482 353 3635 3820 3821 3897 3939 3956 3958 3965 3988 4048 4099 411 412 419 4191 4241 4249 427 43 4350 4360 4507 4595 4684 4758 48 4860 4907 4968 501 5091 50999 5106 51071 51144 51266 5130 51477 51548 5162 5167 51763 5208 5209 5210 5230 5289 5290 5291 5293 5294 5305 5310 5315 5319 5320 5321 5329 5330 5332 5337 54898 55331 5563 55768 55790 55830 55862 55907 5621 56623 57016 57104 57124 5716 5728 5730 5742 5743 57678 5837 6120 6319 6382 6383 6385 6389 6390 6391 6392 6401 6402 64083 64386 6484 6489 65078 6514 6515 65258 6609 6614 6646 6677 684 7167 7368 7412 7841 79623 79660 79679 79966 811 821 8277 8398 8416 8434 847 8482 8692 8794 8809 8821 9023 912 9162 9197 9245 929 933 9365 952 9536 960 9653 9695 972	Homo sapiens (human)
DOID:4465	papillary renal cell carcinoma Aliases: Chromophil carcinoma of kidney papillary kidney carcinoma sporadic papillary renal cell carcinoma	ACACA ACADM ACAT1 ACAT2 ACE ACHE ACLY ACOT7 ACSL1 ACSS1 ACSS2 ACYP2 ADH7 AGK AGRN AKR1A1 AKR1C2 AKR1C3 ALDH1A3 ALDH3B1 ALDH6A1 ALDH9A1 ALDOA ALDOB ALOX12 ALOX12B ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ATRNL1 B3GALT6 B3GAT1 B4GALNT1 B4GALNT3 BST2 CA4 CALR CAT CD14 CD1D CD209 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CERS1 CERS2 CHI3L1 CHI3L2 CHPT1 CHSY1 CLEC1B CMAS COMT CPT1C CRPPA CYP19A1 CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP3A5 DAG1 DCN DHCR24 DHDDS DLD DLST EBP ECHS1 EFNA1 ELOVL2 ENO1 ENO2 ENPP2 ENPP3 FASN FBP1 FCER2 FCGR3B FH FPGT FUCA1 FUT11 FUT3 FUT4 G6PC1 G6PD GAD1 GAL3ST1 GALNT2 GALNT3 GAPDH GAS1 GGT1 GLA GNE GNPTAB GOLPH3 GPC3 GPI GPNMB GPX1 GPX3 GUSB HAO2 HAS1 HK2 HMMR HPGDS HPRT1 HPSE HSD11B2 HSD17B6 ICAM1 IDH1 IDUA IL18R1 IL1R1 IMPA2 INPP4B INPPL1 KDSR KHK KL KLB 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 NCAM1 NDST1 NEU1 NEU3 NT5E NUDT5 OGG1 OGT PAFAH1B1 PARG PARP1 PC PCYT1A PDHB PDIA3 PGK1 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PKM PLA2G15 PLA2G1B PLA2G2A PLA2G6 PLA2R1 PLAUR PLD1 PLD2 POGLUT3 PPAT PRKAA2 PRNP PRSS8 PSMD10 PTEN PTGDS PTGES3 PTGES PTGIS PTGS1 PTGS2 RECK RGN RPIA SCD SDC1 SDC3 SDC4 SDHA SDHB SDHC SDHD SELE SELL SELP SHMT1 SIRT2 SIRT6 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35G2 SMUG1 SOAT1 SORD SPHK1 SPHK2 SPTLC1 ST3GAL2 ST3GAL4 ST8SIA4 STS SULF2 TIGAR TKTL1 TM7SF2 TMED3 TMED9 TPI1 TUSC3 TYMP UGCG UGT1A1 VCAM1 VCAN VTCN1 XPNPEP2	10020 100507436 1012 10135 10327 10457 1048 10558 10682 10715 10728 10825 10855 1087 1116 11164 1117 11332 120227 126129 126792 131 1312 142 143888 1462 146664 152831 1543 1545 1577 1588 1591 1594 1605 1634 1636 1646 170384 1718 1738 1743 1890 1892 1942 197257 2023 2026 2180 2194 220 2203 2208 221 2215 223 226 2271 22856 229 22925 22933 22934 23423 23583 23600 23659 23761 239 240 242 248 250 2517 2525 2526 2531 2538 2539 2571 2583 2590 2591 2597 26033 2619 2678 27087 2717 2719 27306 27349 2821 283358 284348 2876 2878 2923 2990 29956 3036 307 308 30835 3099 31 3161 3251 3291 3340 3383 34 3417 3425 353 3554 3613 3636 375790 3795 38 3821 3897 39 3939 3945 3948 3956 3958 3964 3965 3988 412 4191 4248 4249 43 4329 4360 4507 4594 4680 4684 47 4758 4907 4968 5048 5091 51179 51266 5130 51548 5162 5168 5169 5230 5236 5290 5291 5293 5294 5315 5319 5320 5329 5337 5338 54658 5471 54732 54898 5563 55750 55902 55907 55959 5621 5652 56848 56994 57103 57134 5716 57214 5728 5730 5740 5742 5743 58530 6319 6382 6385 6389 6390 6391 6392 6401 6402 6403 64083 6470 6483 6484 6514 6515 6517 6518 65258 6646 6652 684 7108 7167 729920 7357 7412 7512 762 7903 79158 79679 79888 7991 79944 79947 80723 811 81562 8277 8398 8434 84532 847 8473 8505 8630 8644 8790 8809 8821 8877 9104 912 929 9365 9514 952 9536 9562 960 9672 972 98	Homo sapiens (human)
DOID:0050644	arterial calcification of infancy Aliases: generalized arterial calcification of infancy idiopathic infantile arterial calcification infantile arteriosclerosis	ENPP1 NT5E	4907 5167	Homo sapiens (human)
DOID:0070330	multiple mitochondrial dysfunctions syndrome Aliases: fatal multiple mitochondrial dysfunction syndrome	GCSH	2653	Homo sapiens (human)
DOID:0060563	Char syndrome	TFAP2B	7021	Homo sapiens (human)
DOID:1657	ventricular septal defect Aliases: Interventricular septal defect Ventricular septal abnormality	ACADVL ARSA ARSD ARSH B3GALT6 B3GLCT CHST3 COMT DGCR2 DHCR7 ECHS1 EXT2 FIG4 GPC3 GPC6 HAS2 IGF2 MASP1 MGAT2 NSDHL PDHA1 PFKL PIGL PIGP PIGQ PIK3CA SDHA SMC3 SOAT1 TALDO1 TGDS TKT TMEM260 XYLT1 XYLT2	10082 126792 1312 145173 1717 1892 2132 23483 2719 3037 347527 3481 37 410 414 4247 50814 51227 5160 5211 5290 54916 5648 6389 64131 64132 6646 6888 7086 9091 9126 9469 9487 9896 9993	Homo sapiens (human)
DOID:0060673	Peters anomaly	B3GALNT2 B3GLCT B4GAT1 CHST14 CRPPA CYP1B1 DAG1 EBP FKRP FKTN HSPG2 LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SC5D SMC3	10329 10585 10682 11041 113189 145173 148789 1545 1605 2218 29954 3339 55624 6309 729920 79147 84197 84892 9126 9215	Homo sapiens (human)
DOID:12098	trigeminal neuralgia Aliases: Trifacial neuralgia trifocal neuralgia	ACLY DHCR24 PARP1 PRNP	142 1718 47 5621	Homo sapiens (human)
DOID:2256	osteochondrodysplasia Aliases: Cartilage Development disorder Congenital anomaly of cartilage Osteochondrodysplasia syndrome chondrodystrophy skeletal dysplasia	ACAN ACHE AKR1B1 ALDH3A2 ALG9 ALPL ARSB B3GAT3 B4GALT7 CD38 CHST1 CHST3 COL9A2 CTSA CYP27B1 CYP2B6 CYP2C19 CYP2C9 DCN EBP ENPP1 EXTL3 GALNS GLB1 GNPTAB GNPTG HS6ST1 HSPG2 HYAL1 IDS IDUA LFNG MICA NAGLU NANS NEU1 PAPSS2 PGM3 PTEN SGSH SLC26A2 SLC35A3 SLC35D1 SMUG1 SPAM1 XYLT1	100507436 10682 11285 1298 1555 1557 1559 1594 1634 176 1836 2137 224 231 23169 23443 23583 249 2588 26229 2720 3339 3373 3423 3425 3955 411 43 4669 4758 5167 5238 54187 5476 5728 64131 6448 6677 79158 79796 84572 8534 9060 9394 9469 952	Homo sapiens (human)
DOID:0060055	popliteal pterygium syndrome Aliases: facio-genito-popliteal syndrome popliteal web syndrome	B3GLCT POFUT2	145173 23275	Homo sapiens (human)
DOID:11722	myotonic dystrophy type 1 Aliases: Dystrophia myotonica Steinert disease congenital myotonic dystrophy myotonic dystrophy of Steinert	ACE ALPP ATRNL1 CAT CHI3L1 CYP2B6 DAG1 DGCR2 FASN GAD2 GCK HAS2 HSPG2 LPL MGAM MRC1 MTM1 MTMR1 PGD PGP PLCB1 PRKAA2 PRNP SELE SELP SI SIRT6 SLC2A4 SLC35G1 ST8SIA4 UGT8	1116 1555 159371 1605 1636 2194 23236 250 2572 26033 2645 283871 3037 3339 4023 4360 4534 51548 5226 5563 5621 6401 6403 6476 6517 7368 7903 847 8776 8972 9993	Homo sapiens (human)
DOID:0080718	GNE myopathy Aliases: Distal myopathy, Nonaka type Hereditary Inclusion Body Myopathy Nonaka myopathy inclusion body myopathy 2	GNE	10020	Homo sapiens (human)
DOID:9266	cystinuria	ABO ACADM AGL AGXT AKR1B1 ALDOA ALG9 APRT CYP4F3 EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 G6PD GAA GALE GALK1 GALT GBE1 GLA GPI GYG1 GYG2 GYS2 HADHA HK1 HPGDS ICAM1 IDS IGF2R LDHA LGALS1 LPL MGAM MGAT1 MPDU1 MTM1 NDUFAB1 PFKL PFKM PGAM2 PGK1 PGM1 PYGL PYGM SI SLC2A2 SLC35A2 SLC37A4 SLC3A1 TKT UGP2 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT8 VCAM1	178 189 1962 2027 2203 226 231 2538 2539 2542 2548 2582 2584 2592 2632 2717 27306 28 2821 2992 2998 3030 3098 3383 34 3423 3482 353 3939 3956 4023 4051 4245 4534 4706 5211 5213 5224 5230 5236 54575 54576 54577 54578 54657 54658 57818 5836 5837 6476 6514 6519 7086 7355 7360 7368 7412 7957 79796 8908 8972 92579 9526	Homo sapiens (human)
DOID:0060671	cerebral cavernous malformation 3	SMUG1	23583	Homo sapiens (human)
DOID:5273	cutaneous leiomyosarcoma Aliases: leiomyosarcoma of the skin	FH	2271	Homo sapiens (human)
DOID:10273	heart conduction disease Aliases: heart rhythm disease	CACNA2D3 ETNK1 ETNK2	55224 55500 55799	Homo sapiens (human)

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