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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4801 - 4825** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0111132	focal segmental glomerulosclerosis 7 Aliases: FSGS7	ACE	1636	Homo sapiens (human)
DOID:0110031	hemoglobin H disease Aliases: HBH alpha thalassemia, haemoglobin H type alpha thalassemia, hemoglobin H type alpha-thalassemia intermedia haemoglobin H disease haemoglobin H disease, deletional hemoglobin H disease, deletional	COL9A2 G6PD PC PGD PKD1 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 VCAM1	1298 2539 5091 5226 5310 54575 54576 54577 54578 54657 54658 7412	Homo sapiens (human)
DOID:0060340	ciliopathy	PKD2	5311	Homo sapiens (human)
DOID:8503	impetigo herpetiformis	IL1RL2 LDHA	3939 8808	Homo sapiens (human)
DOID:0070300	multiple epiphyseal dysplasia 4 Aliases: EDM4 MED4 Polyepiphyseal dysplasia type 4 multiple epiphyseal dysplasia with bilateral patellae multiple epiphyseal dysplasia with clubfoot rMED	SLC26A2	1836	Homo sapiens (human)
DOID:0060696	hyperekplexia 1 Aliases: HKPX1	PRNP	5621	Homo sapiens (human)
DOID:0111027	hemochromatosis type 2A Aliases: HFE2A	HJV RGMA RGMB	148738 285704 56963	Homo sapiens (human)
DOID:9423	blepharitis	MSMO1 PIGN PLCD1 SMC3	23556 5333 6307 9126	Homo sapiens (human)
DOID:13757	excessive tearing Aliases: Epiphora Excessive tear production Watering eye	ARSD	414	Homo sapiens (human)
DOID:0070259	congenital disorder of glycosylation type IIg Aliases: CDG IIg CDG2G CDGII/COG1 cerebrocostomandibular-like syndrome CDGIIg Carbohydrate deficient glycoprotein syndrome type IIg	COG1	9382	Homo sapiens (human)
DOID:11512	Budd-Chiari syndrome Aliases: hepatic vein thrombosis	CALR CD55 CYP2C9 GPLD1 PIGM	1559 1604 2822 811 93183	Homo sapiens (human)
DOID:10480	diaphragmatic eventration	MTM1 PIK3CA PLOD3	4534 5290 8985	Homo sapiens (human)
DOID:0080558	congenital disorder of glycosylation If Aliases: congenital disorder of glycosylation 1f	ALG3 MPDU1	10195 9526	Homo sapiens (human)
DOID:5813	purine nucleoside phosphorylase deficiency Aliases: PNP deficiency Purine-Nucleoside Phosphorylase deficiency deficiency of inosine phosphorylase	PNP	4860	Homo sapiens (human)
DOID:0060215	Balo concentric sclerosis Aliases: Balo disease Balo's concentric sclerosis Tumefactive multiple sclerosis	ACE ACHE ALDH7A1 ARSB CD38 CD44 CH25H CHAT CHKB COLGALT1 COMT CPT1B CYP1A2 CYP2B6 CYP2C9 CYP3A4 EBP ECHS1 EPM2A GAD2 GALNT14 GLB1 GPC5 HS6ST3 ICAM1 IDH2 IDS IDUA MBL2 MDGA2 MGAT1 MGLL NCAM1 NDST3 NYX PARP1 PIK3CD PLB1 PRNP PTEN RTN4R SGSH SLC17A5 SUMF1	10682 1103 1120 11343 1312 1375 142 151056 1544 1555 1559 1576 161357 1636 1892 2262 2572 26503 266722 2720 285362 3383 3418 3423 3425 411 4153 4245 43 4684 501 5293 5621 5728 60506 6448 65078 7957 79623 79709 9023 9348 952 960	Homo sapiens (human)
DOID:2734	keratosis follicularis Aliases: DARIER-WHITE DISEASE Darier's disease	ACE AKR1B1 ALDH3A2 ALDH7A1 ALOX12B ALPL AMY2B APRT CANX CERS3 DGAT1 EBP ELOVL4 ENPP1 GBA1 GLA GNPTAB HPGDS HSD17B6 ICAM1 LPIN2 MPDU1 NCAM1 NT5E PKD1 PLA2G1B PNPLA2 PNPLA6 POGLUT1 PTEN PTGS2 SELE SELL SELP SGPL1 SMUG1 STS SULT2B1 XYLT1 XYLT2	10682 10908 1636 204219 224 231 23583 242 249 2629 2717 27306 280 3383 353 412 4684 4907 501 5167 5310 5319 56983 57104 5728 5743 6401 6402 6403 64131 64132 6785 6820 79158 821 8630 8694 8879 9526 9663	Homo sapiens (human)
DOID:3459	breast carcinoma Aliases: Mammary carcinoma carcinoma of breast	ABO ACACA ACADM ACADSB ACE ACHE ACLY ACO2 ACOT7 ACOX2 ACSBG1 ACSL1 ACSL4 ACSL5 ACSM3 ACSS2 ADH1B ADH1C ADH5 ADPRS AGK AKR1A1 AKR1B10 AKR1B1 AKR1C1 AKR1C2 AKR1C3 AKR1C4 ALDH1A3 ALDH1B1 ALDH2 ALDH3A1 ALDH7A1 ALDOA ALG1 ALG2 ALG3 ALOX12 ALOX15B ALOX5 ALPI ALPL ALPP AMACR ANXA4 ANXA5 ANXA7 APEX1 APRT ARSA ARSD ARSI ASAH1 ASAH2B ATP6AP2 ATP6V0A2 ATRNL1 B3GALNT2 B3GAT1 B3GNT5 B4GALNT1 B4GALT1 B4GAT1 BAAT BPHL BST2 C1GALT1 CACNA2D2 CACNA2D3 CALR CANX CAT CBR1 CBR3 CD109 CD14 CD177 CD1D CD22 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEL CEMIP CERK CERS2 CERS4 CERS6 CHGA CHI3L1 CHIT1 CHKA CHPT1 CHST11 CHST15 CHST3 CHST9 CHSY1 CLEC10A CLEC4G CLGN CNTN1 CNTN3 CNTN4 COMT CPM CPT1A CPT1C CPT2 CRYL1 CSPG4 CYB5R3 CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP2U1 CYP3A4 CYP3A5 CYP3A7 CYP4F3 CYP7B1 DAG1 DBT DCN DERA DGKA DHCR24 DHDDS DHRS11 DLAT DLD DPEP1 DSE EBP ECHDC1 ECHS1 EFNA1 EFNA2 EFNA5 ENGASE ENO1 ENO2 ENPP1 ENPP2 EXT1 EXT2 EXTL3 FADS1 FADS2 FASN FBP1 FCGR3B FIG4 FMOD FOLR2 FUCA1 FUT1 FUT2 FUT3 FUT4 FUT8 G6PC2 G6PD GAD2 GAL3ST1 GALNS GALNT14 GALNT16 GALNT6 GALNT9 GAPDH GAS1 GCNT2 GCSH GDPD5 GFPT1 GFRA1 GLB1 GLCE GLO1 GLUL GM2A GOLPH3 GPAA1 GPAT2 GPC1 GPC3 GPC6 GPD1 GPI GPLD1 GPNMB GPX1 GPX2 GPX3 GPX7 GUSB H6PD HACD1 HADHB HAS1 HAS2 HJV HK1 HK2 HKDC1 HMGCS2 HMMR HPGDS HPRT1 HPSE HS3ST3A1 HS6ST3 HSD11B1 HSD11B2 HSD17B12 HSD17B1 HSD17B2 HSD17B4 HSD17B6 HSD17B7 HSD17B8 HSD3B1 HYAL1 HYAL2 ICAM1 IDH1 IDH2 IDS IDUA IGF2R IL18R1 IL1R1 IL1RAPL1 IMPA1 INPP4B INPP5D INPP5J INPP5K INPPL1 ISYNA1 KL KLB KLRK1 L1CAM LALBA LDHA LDHAL6B LDHB LDHC LFNG LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LIPG LPCAT1 LPIN1 LPL LRTOMT LSS LY6K LY75 LYPD5 LYZ MACROD1 MAN2C1 MBD4 MBL2 MCAT ME3 MGAM MGAT1 MGAT5 MGLL MICA MMP17 MMP25 MPG MRC1 MTAP MTM1 MTMR3 MUTYH NAMPT NANS NCAM1 NDST1 NEU1 NT5E NTHL1 OGA OGG1 OGT OLR1 OPCML PARG PARP1 PARP2 PARP3 PARP4 PARP6 PARP9 PC PCYT1B PDHB PDHX PDIA3 PEMT PFKFB3 PFKFB4 PFKM PGAM1 PGAP3 PGD PGK1 PGLS PGM3 PGP PIGT PIGU PIGX PIK3C2A PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PIP4K2B PIP5K1C PKD1 PKD2 PKLR PKM PLA2G10 PLA2G15 PLA2G2A PLA2G4A PLA2R1 PLAAT3 PLAUR PLB1 PLCB1 PLCB2 PLCB4 PLCD1 PLCD4 PLCG1 PLCG2 PLD1 PLD2 PLEKHA8 PLPP1 PLPP5 PNP PNPLA2 POFUT1 PPP1R3B PPT1 PRG2 PRKAA2 PRKCSH PRNP PRPS1 PRSS8 PSAP PSMD10 PTEN PTGDS PTGES3 PTGES PTGIS PTGS1 PTGS2 PYGM RECK RENBP RGN RPN2 SCD SCP2 SDC1 SDC2 SDC4 SDHA SDHB SDHC SDHD SELE SELP SEMA7A SFTPC SGMS2 SGPL1 SHMT1 SHMT2 SIGLEC1 SIGLEC7 SIRT2 SIRT4 SIRT6 SLC2A10 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A2 SLC35B2 SLC35G1 SLC39A8 SLC3A1 SLC5A1 SMPD2 SMPD3 SMUG1 SOAT1 SPAM1 SPHK1 SPHK2 SQLE SRD5A1 SRD5A2 SRGN ST3GAL1 ST3GAL3 ST6GAL1 ST6GALNAC2 ST8SIA1 ST8SIA2 ST8SIA4 STS SULF1 SULF2 SULT1E1 SUMF1 TALDO1 TBXAS1 TDG TIGAR TKT TKTL1 TM7SF2 TMED3 TMEM199 TMTC3 TNFRSF10C TNKS2 TNKS TPI1 TUSC3 TYMP UGCG UGDH UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A8 UGT2B15 UGT2B17 UGT2B7 UGT8 UMOD UMPS VCAM1 VCAN VTCN1	10038 10039 100507436 10082 1012 10135 10159 10195 10327 10400 10457 10462 1047 1048 1056 10610 10682 10724 10728 10855 1087 10873 11041 1109 1113 11141 11145 1116 1118 1119 11226 11332 11343 113612 125 126 126129 1272 128 128869 1312 135228 1368 1374 1376 142 143 1462 1464 147007 148738 148789 150763 151056 152330 152831 1543 1544 1545 1551 1555 1557 1558 1559 1571 1573 1576 1577 1583 1584 1586 1588 1591 1593 159371 1594 1604 160418 1605 1606 1629 1634 1636 1645 1646 166929 1718 1727 1737 1738 1800 1890 1892 1942 1943 1946 2023 2026 2131 2132 2137 217 218 2180 2182 219 2194 220 220074 2203 2215 226 22856 22914 22925 22933 231 23175 23205 23213 23236 2331 23396 23409 23423 2350 23509 23545 23583 23600 23659 239 240 247 248 249 250 2517 2523 2524 2525 2526 2530 253782 2539 2572 25796 2583 2588 2597 26033 26035 2619 2651 2653 266722 2673 2674 2683 27036 27087 27124 2719 2720 27306 27349 2739 2752 2760 28 2817 2819 2821 2822 283871 284348 285362 2876 2877 2878 2882 28992 2923 2990 29940 29956 3032 3036 3037 307 308 3098 3099 31 310 3158 3161 3251 328 3283 3290 3291 3292 3294 3295 3340 3373 3383 339390 34 340075 3417 3418 3423 3425 347734 3482 353 3554 36 3612 3635 3636 3897 3906 3939 3945 3948 3955 3956 3958 3960 3964 3965 3992 4023 4047 4051 4065 4069 410 412 4123 414 4153 4245 4249 427 43 4326 4350 4360 4507 4534 4595 4680 4684 47 4758 4860 4907 4913 4968 4973 4978 50 501 50515 50614 5067 5091 51071 51084 51144 51363 51477 51478 51548 51604 5162 5167 5168 51703 51763 5209 5210 5213 5223 5226 5230 5238 5286 5287 5289 5290 5291 5293 5294 5305 5310 5311 5313 5315 5320 5321 5329 5330 5332 5333 5335 5336 5337 5338 54187 54575 54576 54578 54657 54658 54659 54742 54936 54965 5538 55512 5552 5553 5563 55750 55799 55862 5589 55902 55959 56052 5621 5631 5652 5660 56848 56913 56965 56994 570 57016 57103 57104 57126 5716 57214 5728 5730 5740 5742 5743 57452 57818 5837 5973 6185 6296 6319 6342 6382 6383 6385 6389 6390 6391 6392 6401 6403 64083 64116 64386 6440 6470 6472 64772 64781 6480 6482 6487 6489 6514 6515 6517 6518 6519 6523 653308 6610 6614 6646 6677 670 6713 6715 6716 6783 684 6888 6916 6996 7086 7108 7167 7355 7357 7358 7364 7366 7367 7368 7369 7372 7412 7903 79154 7923 79603 79623 79660 79679 79888 7991 79947 80201 80351 8050 81031 811 8128 81544 821 8277 8309 83539 83666 8396 8399 84002 8434 84513 847 84725 8473 84812 8482 8505 85365 8611 8630 8644 8658 8692 873 8733 874 8794 8809 8821 8877 8879 8897 8930 8972 9104 912 9197 9200 92483 9254 929 93210 933 9365 9388 9415 9420 945 9468 9469 9514 952 9536 9563 960 972 9896 9955	Homo sapiens (human)
DOID:1037	lymphoid leukemia Aliases: lymphoblastic leukaemia lymphoblastic leukemia lymphocytic leukaemia	AKR1B1 B3GAT1 CD22 CD33 CD38 CD44 CDH13 CEACAM5 CYP3A5 DLD EBP FCER2 FDPS GML HPGDS HPSE ICAM1 IDH1 IDH2 IL18R1 KLRK1 LARGE1 MACROD1 MTAP NCAM1 PCYT1A PGP PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PPP1R3A PTEN PTGS2 SIGLEC7 SMC3 SMPD3 VCAM1	1012 1048 10682 10855 1577 1738 2208 2224 22914 231 27036 27087 27306 2765 283871 28992 3383 3417 3418 4507 4684 5130 5286 5290 5291 5293 5294 5338 5506 55512 5728 5743 7412 8809 9126 9215 933 945 952 960	Homo sapiens (human)
DOID:0060444	granular corneal dystrophy 2 Aliases: CGD2 avellino corneal dystrophy combined granular-lattice corneal dystrophy corneal dystrophy, Avellino type granular corneal dystrophy type 2	ACE CAT CD1D GCDH LPIN2 PARP1 SDC1	142 1636 2639 6382 847 912 9663	Homo sapiens (human)
DOID:403	mouth disease	PTGS2	5743	Homo sapiens (human)
DOID:576	proteinuria	ACE ACSL4 CD38 CD55 CTNS CYP11B1 DCN DGKE DLST EHHADH FH FUT1 G6PC1 GALT GBA1 GLA GPC5 GUSB HPSE2 HPSE ICAM1 LCAT LEPR LPIN2 LYZ MDH2 MGAT5 NEU1 OCRL PLA2G7 PLCE1 PMM2 PTGS2 SDC1 SDHA SDHB SDHC SDHD SGPL1 SLC35A1 SLC37A4	10559 10855 1497 1584 1604 1634 1636 1743 1962 2182 2262 2271 2523 2538 2542 2592 2629 2717 2990 3383 3931 3953 4069 4191 4249 4758 4952 51196 5373 5743 60495 6382 6389 6390 6391 6392 7941 8526 8879 952 9663	Homo sapiens (human)
DOID:0060854	autosomal recessive pseudohypoaldosteronism type 1 Aliases: PHA1B autosomal recessive PHA 1	MRC1	4360	Homo sapiens (human)
DOID:12358	patulous eustachian tube	SCD	6319	Homo sapiens (human)
DOID:7033	anisakiasis Aliases: Infection by Anisakis larva	SIGLEC8	27181	Homo sapiens (human)
DOID:4997	Camurati-Engelmann disease Aliases: Diaphyseal dysplasia Engelman's disease progressive diaphyseal dysplasia	DPEP1 LGALS1 TBXAS1 TMEM165	1800 3956 55858 6916	Homo sapiens (human)

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