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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 **3201 - 3225** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0110737	neurodegeneration with brain iron accumulation 3 Aliases: Adult basal ganglia disease Ferritin-related neurodegeneration Hereditary ferritinopathy NBIA3 Neuroferritinopathy Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset	AKR1B10 PLA2G1B PLA2G6 PLB1	151056 5319 57016 8398	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110735	neurodegeneration with brain iron accumulation 2a Aliases: INAD1 Infantile Neuroaxonal Dystrophy 1 NBIA2a Neurodegeneration, Pla2g6-Associated Seitelberger Disease	AKR1B10 NAGA PLA2G1B PLA2G4A PLA2G6 PLB1	151056 4668 5319 5321 57016 8398	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:4534	Hallermann-Streiff syndrome Aliases: Francois dyscephalic syndrome Hallerman - Streiff syndrome Hallermann's syndrome	ICAM1	3383	Homo sapiens (human)	DisGeNET
DOID:1415	gyrate atrophy Aliases: Gyrate atrophy of the choroid and/or retina Ornithinemia with gyrate atrophy gyrate atrophy of the retina	PRKAA2 ST8SIA4	5563 7903	Homo sapiens (human)	DisGeNET
DOID:10688	hypertrophy of breast Aliases: breasts enlarged large breast	CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 CYP3A4 HS6ST1 HSD17B3 HSD3B2 PIK3CA PNPLA6 PTEN SDHB SDHC SDHD SMUG1	10908 1576 1583 1584 1586 1588 1589 23583 3284 3293 5290 5728 6390 6391 6392 9394	Homo sapiens (human)	DisGeNET
DOID:12698	gynecomastia	CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 CYP3A4 HS6ST1 HSD17B3 HSD3B2 PIK3CA PNPLA6 PTEN SDHB SDHC SDHD SMUG1 SRGN	10908 1576 1583 1584 1586 1588 1589 23583 3284 3293 5290 5552 5728 6390 6391 6392 9394	Homo sapiens (human)	DisGeNET DisGeNET
DOID:11603	infant gynecomastia Aliases: Neonatal gynaecomastia breast engorgement in newborn	CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 CYP3A4 HS6ST1 HSD17B3 HSD3B2 PIK3CA PNPLA6 PTEN SDHB SDHC SDHD SMUG1 SRGN	10908 1576 1583 1584 1586 1588 1589 23583 3284 3293 5290 5552 5728 6390 6391 6392 9394	Homo sapiens (human)	DisGeNET DisGeNET
DOID:12889	Miller Fisher syndrome Aliases: Fisher's syndrome Miller-Fisher variant of Guillain-Barre syndrome	CNTN1 CSGALNACT1 ENO2 FCGR3B GALE GLO1 HPRT1 ICAM1 ISYNA1 MBL2 MRC1 PLB1 PTGS1 PTGS2 SIGLEC7 SIGLEC9 SMPD2 SMPD3 ST6GALNAC4	1272 151056 2026 2215 2582 27036 27090 27180 2739 3251 3383 4153 4360 51477 55512 55790 5742 5743 6610	Homo sapiens (human)	DisGeNET DisGeNET
DOID:12842	Guillain-Barre syndrome Aliases: Infectious neuronitis Post-infectious polyneuritis Postinfectious polyneuritis acute infective polyneuritis acute inflammatory demyelinating polyradiculopathy acute postinfectious polyneuropathy	CNTN1 CNTN2 CSGALNACT1 ENO2 FCGR3B GALE GBE1 GLO1 HPRT1 ICAM1 ISYNA1 MAG MBL2 MRC1 PKD1 PLA2G1B PLB1 PTGDS PTGS1 PTGS2 SIGLEC7 SIGLEC9 SMPD2 SMPD3 ST6GALNAC4	1272 151056 2026 2215 2582 2632 27036 27090 27180 2739 3251 3383 4099 4153 4360 51477 5310 5319 55512 55790 5730 5742 5743 6610 6900	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:7997	thyrotoxicosis	ABO ACACA ACE ALG1 ANXA5 APRT ATP6AP2 B3GNT2 BAAT BDH1 CALR CAT CD14 CMAS COMT CS CYP19A1 CYP1A1 CYP21A2 CYP27B1 CYP2C9 CYP2R1 CYP7A1 DEGS1 ENPP2 FCER2 FCGR3B FUT2 GAD1 GAD2 GLO1 GLUL GPX1 ICAM1 IL18R1 IL18RAP IL1RL1 KLRC1 LGALS9 LYZ MBL2 NAMPT NCAM1 NT5E OGG1 PARP1 PC PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PPT1 PRKAA2 PTEN PTGDS SCD SELE SELL SIGLEC1 SLC2A3 SLC2A4 SMUG1 ST3GAL1 ST6GAL1 TM7SF2 UGDH UGT1A1 UGT2B17 VCAM1	10135 10159 10678 120227 1312 142 1431 1543 1559 1581 1588 1589 1594 1636 2208 2215 23583 2524 2571 2572 2739 2752 28 2876 308 31 3383 353 3821 3965 4069 4153 4684 4907 4968 5091 5130 5168 5290 5291 5293 5294 5319 5320 54658 5538 5563 55907 56052 570 5728 5730 622 6319 6401 6402 6480 6482 6515 6517 6614 7108 7358 7367 7412 811 8398 847 8560 8807 8809 9173 929	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:7998	hyperthyroidism Aliases: overactive thyroid	ABO ACACA ACE ADIPOQ ALG1 ANXA5 APRT ATP6AP2 B3GNT2 BAAT BDH1 CALR CAT CD14 CMAS COMT CS CYP19A1 CYP1A1 CYP21A2 CYP27B1 CYP2C9 CYP2R1 CYP7A1 DEGS1 ENPP2 FCER2 FCGR3B FUT2 GAD1 GAD2 GLO1 GLUL GPX1 ICAM1 IL18R1 IL18RAP IL1RL1 KLRC1 LGALS9 LYZ MBL2 NAMPT NCAM1 NR1D1 NT5E OGG1 PARP1 PC PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PPARGC1A PPT1 PRKAA2 PTEN PTGDS SCD SELE SELL SIGLEC1 SLC2A3 SLC2A4 SMUG1 ST3GAL1 ST6GAL1 TM7SF2 UGDH UGT1A1 UGT2B17 VCAM1	10135 10159 10678 10891 120227 1312 142 1431 1543 1559 1581 1588 1589 1594 1636 2208 2215 23583 2524 2571 2572 2739 2752 28 2876 308 31 3383 353 3821 3965 4069 4153 4684 4907 4968 5091 5130 5168 5290 5291 5293 5294 5319 5320 54658 5538 5563 55907 56052 570 5728 5730 622 6319 6401 6402 6480 6482 6515 6517 6614 7108 7358 7367 7412 811 8398 847 8560 8807 8809 9173 929 9370 9572	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:12361	Graves' disease Aliases: Grave's disease Graves disease exophthalmic goiter	ABO ACACA ACE ADIPOQ ALG1 ANXA5 APRT ATP6AP2 B3GNT2 BAAT BDH1 CALR CAT CD14 CMAS COMT CS CYP19A1 CYP1A1 CYP21A2 CYP27B1 CYP2C9 CYP2R1 CYP7A1 DEGS1 ENPP2 FCER2 FCGR3B FUT2 GAD1 GAD2 GLO1 GLUL GPX1 ICAM1 IL18R1 IL18RAP IL1RL1 KLRC1 LGALS9 LYZ MBL2 NAMPT NCAM1 NT5E OGG1 PARP1 PC PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PPT1 PRKAA2 PTEN PTGDS SCD SELE SELL SIGLEC1 SLC2A3 SLC2A4 SMUG1 ST3GAL1 ST6GAL1 TM7SF2 TNF TP53 UGDH UGT1A1 UGT2B17 VCAM1	10135 10159 10678 120227 1312 142 1431 1543 1559 1581 1588 1589 1594 1636 2208 2215 23583 2524 2571 2572 2739 2752 28 2876 308 31 3383 353 3821 3965 4069 4153 4684 4907 4968 5091 5130 5168 5290 5291 5293 5294 5319 5320 54658 5538 5563 55907 56052 570 5728 5730 622 6319 6401 6402 6480 6482 6515 6517 6614 7108 7124 7157 7358 7367 7412 811 8398 847 8560 8807 8809 9173 929 9370	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2999	granulosa cell tumor Aliases: Granulosa cell neoplasm Granulosa cell tumor, adult type Granulosa cell tumour, sarcomatoid malignant granulosa cell neoplasm	CDH13 CYP17A1 CYP19A1 PKM PTEN PTGS2 TKTL1	1012 1586 1588 5315 5728 5743 8277	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:3265	chronic granulomatous disease Aliases: Bridges-Good syndrome CGD Congenital dysphagocytosis Quie syndrome	CAT CEL CYP27B1 EFNA2 G6PD MGAT2 PARP9 PIK3CD PLB1 PMM2 SLC27A5 SLC35A2	1056 10998 151056 1594 1943 2539 4247 5293 5373 7355 83666 847	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:1866	giant cell reparative granuloma Aliases: central giant cell (reparative) granuloma central giant cell granuloma central giant cell reparative granuloma of jaw	GLB1	2720	Homo sapiens (human)	DisGeNET
DOID:7551	gonorrhea Aliases: chronic gonococcal infectious disease of lower genitourinary tract chronic gonococcal infectious disease of upper genitourinary tract	ABO CAT CD44 CEACAM5 FDPS INPPL1 NDUFAB1 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SDC1 UMPS	1048 2224 28 3636 4706 5290 5291 5293 5294 5743 6382 7372 847 960	Homo sapiens (human)	DisGeNET
DOID:14449	mixed gonadal dysgenesis	PGD	5226	Homo sapiens (human)	DisGeNET
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)	DisGeNET DisGeNET DisGeNET
DOID:3491	Turner syndrome Aliases: Bonnevie-Ullrich syndrome Gonadal dysgenesis - Turner Karyotype 45, X Monosomy X XO syndrome monosomy X 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)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:13197	nodular goiter Aliases: Goiter, nodular nodular goitre	ALG1 CYP24A1 LGALS3 MINPP1 TPI1	1591 3958 56052 7167 9562	Homo sapiens (human)	DisGeNET DisGeNET
DOID:13195	nontoxic goiter Aliases: Goiter, non-toxic Goitre, non-toxic Nodule-thyroid, non tox Non-toxic goitre Non-toxic simple goitre	ABO ALPP ATRNL1 CEACAM5 CEACAM7 GGT1 IDH1 IDH2 LDHA PIK3CA PKM PLA2G2A PLA2G6 PTEN PTGDS SDHB SDHC SDHD TM7SF2	1048 1087 250 26033 2678 28 3417 3418 3939 5290 5315 5320 5728 5730 6390 6391 6392 7108 8398	Homo sapiens (human)	DisGeNET DisGeNET
DOID:50	thyroid gland disease	ABO AGA ALG1 ALPI ALPP ATRNL1 CAT CD14 CEACAM5 CEACAM7 CYP1A2 CYP2R1 GAD1 GAD2 HSD17B7 ICAM1 IDH1 IDH2 IL18R1 IL18RAP INPP4B LDHA LGALS1 LGALS3 MBL2 PARP1 PARP4 PIK3CA PKM PTEN PTGDS PTGS2 SDHB SDHC SDHD SMUG1 TM7SF2	1048 1087 120227 142 143 1544 175 23583 248 250 2571 2572 26033 28 3383 3417 3418 3939 3956 3958 4153 51478 5290 5315 56052 5728 5730 5743 6390 6391 6392 7108 847 8807 8809 8821 929	Homo sapiens (human)	DisGeNET DisGeNET
DOID:12176	goiter Aliases: goitre	ABO AGA ALG1 ALPI ALPP ATRNL1 CAT CD14 CEACAM5 CEACAM7 CYP1A2 CYP2R1 GAD1 GAD2 HSD17B7 ICAM1 IDH1 IDH2 IL18R1 IL18RAP INPP4B LDHA LGALS1 LGALS3 MBL2 PARP1 PARP4 PIK3CA PKM PTEN PTGDS PTGS2 SDHB SDHC SDHD SMUG1 TM7SF2	1048 1087 120227 142 143 1544 175 23583 248 250 2571 2572 26033 28 3383 3417 3418 3939 3956 3958 4153 51478 5290 5315 56052 5728 5730 5743 6390 6391 6392 7108 847 8807 8809 8821 929	Homo sapiens (human)	DisGeNET DisGeNET
DOID:9432	renal glycosuria Aliases: renal diabetes	DCXR SLC2A2 SLC5A1 SLC5A2	51181 6514 6523 6524	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2751	glycogen storage disease VIII Aliases: Glycogen storage disease 8 glycogen storage disease type VIII glycogenosis type VIII hepatic glycogen phosphorylase kinase deficiency	G6PC1 GGT1	2538 2678	Homo sapiens (human)	DisGeNET

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