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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 **5451 - 5475** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:4028	angioma serpiginosum Aliases: Angioma serpiginosum of skin	ACE ATP6AP2 ATP6V1A C1GALT1C1 MAG PIK3CA PIK3CB PIK3CD PIK3CG PTEN SRD5A3	10159 1636 29071 4099 523 5290 5291 5293 5294 5728 79644	Homo sapiens (human)	DisGeNET DisGeNET
DOID:4617	periapical granuloma Aliases: Apical granuloma	B3GAT1 ICAM1 LGALS1 PTGS2 SIRT2	22933 27087 3383 3956 5743	Homo sapiens (human)	DisGeNET
DOID:0080886	vitamin D-dependent rickets type 1A	CYP27B1	1594	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080768	pyridoxine-dependent epilepsy	ALDH7A1	501	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112237	lissencephaly 1 Aliases: LIS1 PAFAH1B1-related lissencephaly	PAFAH1B1	5048	Homo sapiens (human)	Alliance of Genome Resources
DOID:3876	colonic pseudo-obstruction Aliases: primary chronic pseudo-obstruction of colon	ACHE	43	Homo sapiens (human)	DisGeNET
DOID:0080127	mitochondrial DNA depletion syndrome 8a Aliases: RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy	TYMP	1890	Homo sapiens (human)	DisGeNET
DOID:0110577	autosomal dominant nonsyndromic deafness 51 Aliases: DFNA51 autosomal dominant deafness 51 chromosome 9q21.11 duplication syndrome	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)	DisGeNET
DOID:9553	adrenal gland disease	SDHB	6390	Homo sapiens (human)	DisGeNET
DOID:14116	multiple symmetric lipomatosis Aliases: LIPODYSTROPHY, CEPHALOTHORACIC LIPOMATOSIS, FAMILIAL BENIGN CERVICAL Launois-Bensaude's lipomatosis Madelung's neck cervical Symmetrical Lipomatosis multiple symmetrical lipomatosis	ACAN AMACR CEL CPM DCN PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 PTEN PYGM	1056 10908 1368 1634 176 23600 5290 5291 5293 5294 5728 5837	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:3388	periodontal disease Aliases: disease of supporting structures of teeth periodontium disorder	ACE ALOX5 AMY1A AMY1B AMY1C CAT CD14 FCGR3B GPNMB IL18R1 LGALS9 LYZ MBL2 PNP PTGS2 RECK SELL SLC2A4 SMPD1 VCAM1	10457 1636 2215 240 276 277 278 3965 4069 4153 4860 5743 6402 6517 6609 7412 8434 847 8809 929	Homo sapiens (human)	DisGeNET
DOID:0110043	Alzheimer's disease 10 Aliases: AD10 Alzheimer disease 10 Alzheimer disease familial 10 Alzheimer's disease 10, early onset	ABO ACACA ACADVL ACAT1 ACE ACHE ACO1 ACO2 ACOT7 ACOT8 ACSL6 ACSS2 AGPS AGRN AKR1A1 AKR1C2 AKR1C4 ALDH2 ALDH7A1 ALOX12 ALOX5 ALPI ALPP ANXA5 APRT ARSA ASAH1 ATRNL1 B3GALT4 B3GAT1 BCAN BST1 CALR CAT CD14 CD177 CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CFC1 CH25H CHAT CHI3L1 CHIT1 CLC CLEC16A CLEC1B CLEC7A CLN5 CNTN1 CNTN2 COG5 COLGALT2 COMT CPO CPT1A CRYL1 CS CSPG4 CTNS CYP11A1 CYP17A1 CYP19A1 CYP1A2 CYP27A1 CYP2B6 CYP2C9 CYP2J2 CYP3A4 CYP46A1 CYP7B1 CYP8B1 DCN DEGS1 DGKQ DHCR24 DHRS11 DLD DLST DPEP2 EDEM2 EFNA5 ENO1 ENO2 ENPP2 EPHX2 FASN FBXO2 FCGR3B FCN2 FDPS FOLR2 G6PD GAD1 GAD2 GALNS GAPDH GAPDHS GBA1 GFRA1 GGT1 GLB1 GLO1 GLUL GNE GNPAT GNPDA2 GOLPH3 GPAA1 GPC1 GPC6 GPI GPNMB GPX1 GTDC1 GUSB HAS1 HAS3 HK1 HMGCS2 HPGDS HPSE2 HPSE HS3ST1 HSD11B1 HSD17B1 HSD17B4 HSD17B6 HSD17B7 HSPG2 HYI ICAM1 IDH1 IDH2 IGF2R IL1R1 IL1RAP IL1RL1 IMPA1 INPP5D INPP5K INPPL1 ITPKB KL KLRC1 L1CAM LCAT LCT LDHA LGALS3 LGALS4 LGALS9 LIPA LIPC LIPG LPL LTC4S LYZ LYZL4 MAG MASP1 MBL2 MDH2 MELTF MGAT3 MGLL MICA MMUT MOGAT3 MPG MPI MRC1 NAAA NAMPT NANS NCAM1 NEU1 NPL NT5E OGA OGDH OGDHL OGG1 OGT OLR1 PAFAH1B2 PARP1 PC PCK1 PCYT1A PCYT1B PEMT PFKFB3 PGD PGP PI4KA PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKM PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCG2 PLD1 PLD2 PLD3 PLPP4 PMM2 PNP PNPLA2 PNPLA7 PPT1 PRG2 PRKAA2 PRNP PTDSS1 PTEN PTGDS PTGES2 PTGES3 PTGES PTGS1 PTGS2 RENBP RGN RTN4R SCD5 SCD SCP2 SDC2 SDC3 SDCBP2 SFTPA1 SFTPC SGMS2 SGSH SI SIGLEC7 SIRT2 SIRT6 SLC2A3 SLC2A4 SLC33A1 SLC35A1 SLC35A2 SMPD2 SMPD3 SMUG1 SOAT1 SPHK1 SPHK2 SQLE ST3GAL4 ST6GAL1 ST8SIA1 STS SUCLA2 SUCLG2 SYNJ1 TIGAR TKT TM7SF2 TMED9 TPI1 UGCG UGT1A1 UMOD UNG VCAM1 VCAN	10005 10020 100507436 10082 1012 10135 10327 10400 10457 10466 1048 10559 10724 10728 10855 10858 1103 1109 1116 1118 11332 11343 1178 1203 1272 130749 1312 131375 132789 1374 142 1431 1462 1464 1497 151056 1544 1555 1559 1573 1576 1582 1583 1586 1588 1593 1604 1609 1634 1636 1646 166929 1718 1738 1743 1946 196051 200576 2023 2026 2053 217 2194 2215 2220 2224 22933 23127 23236 23274 23305 2350 23583 23646 23659 239 240 248 250 2539 2571 2572 2588 2597 26033 26232 2629 26330 2674 2678 27036 27087 27111 27163 2720 27306 2739 2752 28 2817 2821 283871 2876 2990 3036 3038 308 30835 3098 31 3158 3290 3292 3295 3339 3383 3417 3418 346606 3482 353 3554 3556 3612 3635 3636 37 3707 375775 375790 38 3821 3897 3931 3938 3939 3958 3960 3965 3988 3990 4023 4056 4069 4099 410 412 4153 4191 4241 4248 427 43 4350 4351 4360 4594 4684 4758 48 4860 4907 4967 4968 4973 50 501 5049 5091 5105 51084 51266 5130 51478 51548 5168 51763 5209 5226 5289 5290 5291 5293 5294 5297 5315 5319 5320 5321 5329 5336 5337 5338 5373 54187 54658 54732 5538 55512 5553 5563 55741 55753 55902 55997 5621 5648 56848 57103 57104 57126 5728 5730 5742 5743 5973 60495 6319 6342 63827 6383 64083 64174 6440 6448 64581 6476 6480 6484 6489 65078 6515 6517 653509 6610 6646 6713 683 6900 7086 7108 7167 7355 7357 7369 7374 7412 79154 7941 79712 79966 80142 80896 811 81888 8398 8443 847 8473 8540 8560 8630 8705 8733 8801 8803 8867 8877 9023 9104 9173 9197 929 9365 9388 9420 945 9468 952 9536 960 9672 972 9791 9957	Homo sapiens (human)	DisGeNET
DOID:2491	sensory peripheral neuropathy Aliases: peripheral Sensory Neuropathy sensory neuropathy	AGXT CYP27A1 CYP4F3 GAS1 MTMR2 PKLR PRPS1 SLC33A1 SPTLC1 SPTLC2 SPTLC3	10558 1593 189 2619 4051 5313 55304 5631 8898 9197 9517	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:2908	Treacher Collins syndrome Aliases: Franceschetti syndrome mandibulofacial dysostosis	NDST1 PARP1	142 3340	Homo sapiens (human)	DisGeNET
DOID:14766	renal agenesis Aliases: hereditary renal aplasia hereditary urogenital adysplasia renal adysplasia renal aplasia	FKRP FKTN FREM1 GFRA1 GPC3 LARGE1 PIGN PIGP PIGQ POMT1 POMT2 SLC2A4	10585 158326 2218 23556 2674 2719 29954 51227 6517 79147 9091 9215	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:14784	olivopontocerebellar atrophy Aliases: Dejerine-Thomas syndrome Thomas' syndrome WADIA-SWAMI SYNDROME	CHAT PMM2	1103 5373	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0050471	Carney complex Aliases: Carney Complex, Type 1 Carney Complex, Type 2 Carney Syndrome Carney complex variant LAMB Syndrome NAME Syndrome	APRT CAT CYP19A1 CYP2B6 PTEN SDHC UGT1A1	1555 1588 353 54658 5728 6391 847	Homo sapiens (human)	DisGeNET
DOID:12449	aplastic anemia	ALDH2 ATP6AP2 CD48 CD55 CYP1A1 CYP2B6 CYP2E1 DGKZ ECI2 FCGR3B GPI HACD1 HPGDS ICAM1 IMPA1 LGALS9 NCAM1 PAFAH1B1 PIGA PTGDS SMUG1 TNF	10159 10455 1543 1555 1571 1604 217 2215 23583 27306 2821 3383 3612 3965 4684 5048 5277 5730 7124 8525 9200 962	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:8712	neurofibromatosis	APRT CAT CD14 CD38 CD44 CEL CNTN2 CYP19A1 CYP2E1 DHDDS ENO2 FASN FH G6PD HSD17B6 IDH1 IDH2 MRC1 MTAP PGD PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PTEN PTGDS PTGS2 SDHB SDHC SDHD SIRT2 SMUG1 SORD TMEM165	1056 1571 1588 2026 2194 2271 22933 23583 2539 3417 3418 353 4360 4507 5226 5290 5291 5293 5294 5310 55858 5728 5730 5743 6390 6391 6392 6652 6900 79947 847 8630 929 952 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0080204	renal hypoplasia	B3GLCT COMT	1312 145173	Homo sapiens (human)	DisGeNET
DOID:192	sex cord-gonadal stromal tumor Aliases: Sex Cord-Stromal neoplasm Sex cord stromal tumour Specialized gonadal neoplasm Specialized gonadal tumor Specialized gonadal tumour sex cord-gonadal stromal tumour	CYP19A1 CYP2B6 LGALS3	1555 1588 3958	Homo sapiens (human)	DisGeNET DisGeNET
DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma Aliases: B-cell lymphocytic leukemia/small lymphocytic lymphoma CLL/SLL	FCER2 SLC35B2	2208 347734	Homo sapiens (human)	DisGeNET
DOID:0110881	holoprosencephaly 1 Aliases: HPE1	B3GALNT2 CAT COMT CYP2E1 FIG4 FKRP FKTN GAS1 GMPPB L1CAM LARGE1 LSS MOGS PGAP1 PIGN POMGNT1 POMT1 POMT2	10585 1312 148789 1571 2218 23556 2619 29925 29954 3897 4047 55624 7841 79147 80055 847 9215 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:4932	ampulla of Vater carcinoma Aliases: ampulla of vater cancer ampullary carcinoma carcinoma of ampulla of vater	CD44 CEACAM5 CYP1A1 MMUT PIK3CA PIK3CB PIK3CD PIK3CG PTGS2	1048 1543 4594 5290 5291 5293 5294 5743 960	Homo sapiens (human)	DisGeNET
DOID:219	colon cancer	ACACA ACAN ACAT1 ACE ACHE ACLY ACSL1 ACSL4 ACSS2 ADH1B ADH1C AFMID AGL AKR1B10 AKR1B1 AKR1C1 AKR1C3 AKT1 ALDH1A3 ALDH1B1 ALDH2 ALDH3A1 ALDH7A1 ALG1 ALOX12B ALOX15 ALOX5 ALPP AMACR ANXA5 APRT ARSA ASAH1 ATRNL1 B3GALT5 B3GNT7 B3GNT8 B3GNTL1 B4GALNT3 BAAT BAD C1GALT1 C1GALT1C1 CA4 CACNA2D1 CALR CAT CBR1 CD109 CD248 CD44 CD55 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CERS4 CERS5 CHAT CHGA CHI3L1 CHKA CHPT1 CHST4 CLEC3A COMT CSGALNACT1 CTBS CYB5R1 CYB5R3 CYP17A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27B1 CYP2E1 CYP2R1 CYP3A4 CYP4F3 CYP7A1 CYP7B1 DAG1 DCN DGKB DGKE DGKZ DHCR24 DHCR7 DHDDS DLD DPEP1 EBP ELOVL5 ENO1 ENPP3 ENPP7 FADS1 FADS2 FASN FBP1 FDPS FH FOLR1 FUT1 FUT4 FUT6 FUT7 G6PD GALNT12 GALNT4 GALNT6 GAPDH GCNT2 GCNT3 GLB1 GLO1 GMDS GOLPH3 GPC1 GPI GPLD1 GPX1 GPX2 GPX3 GSK3B GUSB HAS3 HEXB HK2 HMGCS1 HMGCS2 HMMR HPGDS HPRT1 HPSE HS3ST2 HSD11B2 HSD17B4 HSD17B7 HSPG2 HYAL2 ICAM1 IDH1 IDUA IGF2R IL1R1 IMPA1 INPP4B INPP5D INPPL1 ISYNA1 KL KLRK1 L1CAM LAYN LDHA LDHB LGALS12 LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LIPC LPIN1 LPL LYPD5 MACROD2 MAPK14 MBD4 MBL2 ME1 MGAT5 MGLL MICA MINPP1 MMP25 MRC1 MTM1 MTMR3 MUTYH NAMPT NEU3 NTHL1 NTNG1 OGA OGG1 OLR1 PARP1 PARP4 PCYT1A PCYT1B PFKFB3 PGK1 PIGU PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1A PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G2D PLA2G3 PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCG1 PLCH1 PLD2 PLD4 PLEKHA8 PLPP3 PNP PNPLA2 POGLUT1 PRKAA1 PRKAA2 PSMD10 PTEN PTGDS PTGES PTGIS PTGS1 PTGS2 RECK REG1B RENBP RGN RPE RPIA SCD SDC1 SDC2 SDC4 SDHA SDHB SDHC SELE SELL SGMS2 SGPL1 SHMT1 SHMT2 SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC26A2 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35A2 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SRGN ST6GAL1 ST6GALNAC1 STS STT3A SULF1 SULT1E1 SYNJ2 TDG TIGAR TKT TKTL1 TKTL2 TM7SF2 TMED3 TMED9 TMTC1 TNFRSF10C TNKS TUSC3 TYMP UGT1A1 UGT1A6 UGT1A7 UGT1A9 UGT2B17 ULBP2 UMPS UNG UPP1 VCAM1 VCAN VNN1	100507436 1012 10135 10143 10164 10317 1048 10682 10724 10825 10855 1087 1103 1113 1116 1119 11226 11343 120227 122618 125 125061 126 128869 1312 135228 140733 142 143 1432 143903 1462 146712 1486 151056 1543 1544 1545 1571 1576 1581 1586 1591 1594 1604 1605 1607 1634 1636 1645 166929 1717 1718 1727 1738 176 178 1800 1836 1890 2023 207 217 218 2180 2182 219 2194 220 2203 2224 2271 22854 22914 22933 22934 23007 231 23175 23213 23236 23423 2348 23583 23600 23659 240 242 246 250 2523 2526 2528 2529 2539 2597 26033 26279 26503 2651 27036 2720 27306 2739 2762 2817 2821 2822 283358 284348 2876 2877 2878 29071 2932 2990 3038 3074 308 3099 31 3157 3158 3161 3251 3291 3295 3339 3383 339221 3417 3425 3482 353 3554 3612 3635 3636 3703 374907 38 3897 3939 3945 3956 3958 3960 3964 3965 3990 3992 4023 4051 410 412 4153 4199 4249 427 43 4360 4534 4595 4680 47 4860 4913 4968 4973 501 50487 5130 51477 51478 51548 5169 51706 5209 5230 5289 5290 5291 5293 5294 5315 5319 5320 5321 5329 5335 5338 54577 54578 54600 54658 54732 5552 5562 5563 55790 55808 55902 56052 56848 56913 56983 56994 570 57016 57103 57104 57124 5716 572 57214 5728 5730 5740 5742 5743 5968 5973 60481 6120 6319 6382 6383 6385 6389 6390 6391 6401 6402 64083 64386 6470 6472 6480 6514 6515 6517 6518 6609 6646 6783 6996 7086 7108 7355 7367 7372 7374 7378 7412 762 781 7941 79603 79695 7991 79947 80328 811 8277 83857 8394 8398 8399 84076 8434 847 84725 8525 8526 85329 8613 8644 8658 8692 8693 873 8794 8821 8871 8876 8877 8879 8897 8930 91012 9104 9245 93010 9365 9415 9420 9468 9536 9562 960 9956	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources

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