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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 **2326 - 2350** of **4621** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism
DOID:4586	familial meningioma	PTEN	5728	Homo sapiens (human)
DOID:0111529	familial multiple nevi flammei Aliases: CMC congenital capillary malformations familial multiple port-wine stains	CYP1B1 ICAM1 KLRB1 MAG PIK3CA PIK3CB PIK3CD PIK3CG	1545 3383 3820 4099 5290 5291 5293 5294	Homo sapiens (human)
DOID:2590	familial nephrotic syndrome Aliases: Congenital nephrotic syndrome	ACAT1 ACE ALG1 ALOX5 CALR CHST14 CNTN1 CYP2C19 CYP3A4 CYP3A5 DGAT1 DGKE EXT1 FCGR3B GLA GLO1 GPAM GPC3 GPC5 HPSE HSD11B2 HSPG2 IL1R1 KL LCAT LGALS1 LIPC LTA4H LYZ MLYCD PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G7 PLA2R1 PLB1 PLCE1 PMM2 PTGS2 SDC1 SDC2 SGPL1 SLC17A5 STS TREH VCAM1	10855 11181 113189 1272 151056 1557 1576 1577 1636 2131 2215 2262 22925 23417 240 26503 2717 2719 2739 3291 3339 3554 38 3931 3956 3990 4048 4069 412 51196 5290 5291 5293 5294 5310 5373 56052 5743 57678 6382 6383 7412 7941 811 8526 8694 8879 9365	Homo sapiens (human)
DOID:0070202	familial partial lipodystrophy type 2 Aliases: FPLD2 familial lipodystrophy of limbs and lower trunk familial partial lipodystrophy Dunnigan type reverse partial lipodystrophy	LPL	4023	Homo sapiens (human)
DOID:0050440	familial partial lipodystrophy Aliases: Dunnigan Syndrome Koberling-Dunnigan Syndrome	AGL AGPAT2 LPL	10555 178 4023	Homo sapiens (human)
DOID:1029	familial periodic paralysis	ACACA ACADM ACADS ACADVL ACE AGK AGL AGPAT2 AKR1A1 ALG14 ALG2 ANXA5 B3GALNT2 B4GALT1 CAT CD109 CD38 CHST14 CNTN1 COL9A2 COLEC12 CPT2 CRPPA CYP2B6 CYP2E1 CYP3A4 CYP3A5 DAG1 DCN DGAT1 DPAGT1 FKRP FKTN G6PC1 G6PD GAA GBE1 GFPT1 GMPPB GNE GYG1 HADHA HADHB HPGDS INPP5K LARGE1 LDHA LPIN1 LPIN2 MGAM MTM1 MTMR14 MTMR2 NCAM1 PGAM2 PGK1 PGM1 PIK3C2A PKD1L2 PNPLA2 POMGNT1 POMT1 POMT2 PRKAA2 PRNP PTEN PTGS2 PYGM SDHA SFTPA1 SFTPC SI SMUG1 TM7SF2 TPI1	10020 10327 10555 10585 113189 114780 1272 1298 135228 1376 148789 1555 1571 1576 1577 1605 1634 1636 178 1798 199857 2218 23175 23583 2538 2539 2548 2632 2673 2683 27306 2992 29925 29954 3030 3032 308 31 34 35 37 3939 4534 4684 51763 5224 5230 5236 5286 55624 5563 55750 5621 57104 5728 5743 5837 6389 6440 64419 6476 653509 7108 7167 729920 79147 81035 847 85365 8694 8898 8972 9215 952 9663	Homo sapiens (human)
DOID:6163	familial renal papillary carcinoma Aliases: Hereditary Papillary renal carcinoma	FH	2271	Homo sapiens (human)
DOID:4648	familial retinoblastoma Aliases: Hereditary Retinoblastoma	APRT CBR3 CD44 CDH13 CEACAM5 CEACAM7 CEMIP EBP EFNA2 ENO1 ENO2 FASN FOLR1 FUT7 GLB1 GPC6 GPI HPGDS ICAM1 IDH1 IDH2 IGF2R KLRK1 L1CAM LDHA LGALS3 LIPG MICA MMUT MPG MTAP NCAM1 PGP PIGF PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PSMD10 PTEN PTGES3 PTGS2 RENBP RPE SIGLEC7 SOAT1 SUCLA2 TIGAR ULBP2	100507436 10082 1012 1048 10682 10728 1087 1943 2023 2026 2194 22914 2348 2529 27036 2720 27306 2821 283871 3383 3417 3418 3482 353 3897 3939 3958 4350 4507 4594 4684 5281 5290 5291 5293 5294 57103 57104 5716 57214 5728 5743 5973 6120 6646 80328 874 8803 9388 960	Homo sapiens (human)
DOID:0050636	familial visceral amyloidosis Aliases: AMYLOIDOSIS, FAMILIAL RENAL German type amyloidosis OSTERTAG TYPE AMYLOIDOSIS systemic nonneuropathic amyloidosis	LYZ	4069	Homo sapiens (human)
DOID:6901	familiar ovarian carcinoma	PARP1 PIK3CA	142 5290	Homo sapiens (human)
DOID:14453	farmer's lung Aliases: Farmers lung farmer lung	ATP6AP2 CEL CHI3L1 LGALS9 PARP9 SLC27A5 TNF	10159 1056 10998 1116 3965 7124 83666	Homo sapiens (human)
DOID:9598	fasciitis	GAPDH PTGS2	2597 5743	Homo sapiens (human)
DOID:885	fascioliasis Aliases: Fasciola hepatica infection Infection by Fasciola Liver flukes Sheep liver fluke infection	HPGDS PSAP SLC17A5	26503 27306 5660	Homo sapiens (human)
DOID:0050433	fatal familial insomnia	CHI3L1 MDH1 PRNP	1116 4190 5621	Homo sapiens (human)
DOID:13628	favism	ACSL4 ALDOA CAT CD55 G6PD GPI HK1 NDUFAB1 PKLR TPI1 UGT8	1604 2182 226 2539 2821 3098 4706 5313 7167 7368 847	Homo sapiens (human)
DOID:7843	female breast carcinoma Aliases: Mammary carcinoma of female breast	ALDH2 COMT CYP17A1 CYP19A1 CYP1A1 CYP1B1 MUTYH OGG1 PIK3CA PTEN	1312 1543 1545 1586 1588 217 4595 4968 5290 5728	Homo sapiens (human)
DOID:3001	female reproductive endometrioid cancer Aliases: endometrioid neoplasm endometrioid tumor	PTEN	5728	Homo sapiens (human)
DOID:120	female reproductive organ cancer Aliases: female reproductive cancer malignant Gynecologic tumor malignant neoplasm of female genital organ	AMT HPGDS MRC1 PIK3CA UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8	27306 275 4360 5290 54575 54576 54577 54578 54657 54658	Homo sapiens (human)
DOID:229	female reproductive system disease	CYP19A1 CYP1A1 CYP1A2 CYP2B6 LGALS9	1543 1544 1555 1588 3965	Homo sapiens (human)
DOID:724	female stress incontinence Aliases: Stress incontinence - female female urinary stress incontinence	ACOT7 ARSA CAT DCN FMOD GBA1 GPI	11332 1634 2331 2629 2821 410 847	Homo sapiens (human)
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:0111375	fetal akinesia deformation sequence syndrome Aliases: FADS Pena-Shokeir syndrome type 1 arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome fetal akinesia sequence foetal akinesia deformation sequence syndrome foetal akinesia sequence	AGRN CNTN1 DPAGT1 GBA1 GBE1 PDHA1 PIGS	1272 1798 2629 2632 375790 5160 94005	Homo sapiens (human)
DOID:0050696	fetal alcohol spectrum disorder	HSD11B2 PTEN	3291 5728	Homo sapiens (human)
DOID:1098	fetal erythroblastosis Aliases: EF - Erythroblastosis foetalis Haemolytic disease due to rhesus isoimmunisation erythroblastosis fetalis rhesus isoimmunisation of the newborn	ABO ANXA5 CD55 FCGR3B G6PD GPI MBL2 OCRL PIGA PNP	1604 2215 2539 28 2821 308 4153 4860 4952 5277	Homo sapiens (human)
DOID:6726	fibrillary astrocytoma Aliases: Fibrillary Astrocytic tumors	ACHE ACSL5 ADH1A ADH1B ADH1C ADH4 ADH6 AKR1A1 AKR1B1 AKR1C3 ALOX5 APRT ATRN B3GAT1 BDH2 BST2 CALR CAT CD248 CD44 CD55 CD74 CHI3L1 CHST15 CNTN2 CS CYP1B1 CYP4F3 ENPP1 EXT1 FCN2 FKTN G6PD GLB1 GOLPH3 HAS2 HJV HMMR HPGDS HPSE ICAM1 IDH1 IDH2 LGALS3 LGALS4 MMP25 MRC1 NEU1 PARP1 PFKFB3 PFKFB4 PGAM1 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G2A PLA2G4A PLB1 PLCB1 PLD1 PLD2 PRNP PRPS1 PTEN PTGDS PTGES PTGS2 RECK RTN4R SDC4 SDHA SGPL1 SLC2A3 SMUG1 SPHK2 ST8SIA2 ST8SIA4 STS TM7SF2 TNKS TYMP VCAM1 VCAN XYLT1	10327 10855 1116 124 125 126 127 130 142 1431 1462 148738 151056 1545 1604 1890 2131 2218 2220 231 23236 23583 240 2539 27087 2720 27306 3037 3161 3383 3417 3418 353 3958 3960 4051 412 43 4360 4758 51363 5167 51703 5209 5210 5223 5230 5290 5291 5293 5294 5310 5320 5321 5337 5338 5621 5631 56848 56898 57124 5728 5730 5743 6385 6389 64083 64131 64386 65078 6515 684 6900 7108 7412 7903 811 8128 8399 8434 8455 847 8644 8658 8879 9536 960 972	Homo sapiens (human)

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