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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 **1526 - 1550** of **4621** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism
DOID:2512	nevoid basal cell carcinoma syndrome Aliases: Gorlin syndrome NBCCS basal cell nevus syndrome	CYP1A1 CYP2B6 GAS1 GLB1 GPC3 HPSE SLC2A3	10855 1543 1555 2619 2719 2720 6515	Homo sapiens (human)
DOID:2510	Kluver-Bucy syndrome Aliases: Klver-Bucy syndrome	NAGLU SGSH	4669 6448	Homo sapiens (human)
DOID:2508	Takayasu's arteritis Aliases: Aortic arch arteritis Idiopathic aortitis Takayasu arteritis Takayasu's disease aortic arch syndrome	ABO ACE B3GAT1 CEL CHI3L1 CYP21A2 FCGR3B GBA3 GLA INPP4B KLRB1 MICA NAAA NT5E PARP9 PTEN SELP SLC27A5 SMUG1 TPI1 VCAM1	100507436 1056 10998 1116 1589 1636 2215 23583 27087 27163 2717 28 3820 4907 5728 57733 6403 7167 7412 83666 8821	Homo sapiens (human)
DOID:2495	senile angioma Aliases: Senile hemangioma Senile naevus of skin	PTEN	5728	Homo sapiens (human)
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)
DOID:2485	phosphorus metabolism disease Aliases: Phosphorus disorder disorder of phosphorus metabolism phosphorus metabolism disorder	ACADVL ACE ADH1A AGXT ALG12 ALPL ALPP ATRNL1 CD44 COMT CYP24A1 CYP27B1 CYP2B6 CYP2R1 DLST ENPP1 FH GALNT3 GRHPR HADHA HADHB HOGA1 HSD11B2 IDS KL MDH2 OCRL PIGT PIK3C2A PTGS2 SDHA SDHB SDHC SDHD SLC3A1 SLC5A1 SMUG1 STS	112817 120227 124 1312 1555 1591 1594 1636 1743 189 2271 23583 249 250 2591 26033 3030 3032 3291 3423 37 412 4191 4952 51604 5167 5286 5743 6389 6390 6391 6392 6519 6523 79087 9365 9380 960	Homo sapiens (human)
DOID:2481	obsolete infantile epileptic encephalopathy	ABAT ALDH7A1 ALG13 ALG2 ALG3 AMT ATP6V1A B3GALNT2 CACNA2D1 CYP2C19 DHDDS EPM2A GAPDH GCK GLYCTK HIBCH HMGCL HSD17B4 LMAN2L MAN1B1 MBOAT7 NDST1 NGLY1 PAFAH1B1 PDHA1 PGAP1 PIGA PIGC PIGP PIGQ PIGW PLCB1 PMM2 RFT1 SLC35A2 SLC39A8 SRD5A3 ST3GAL3 SYNJ1 TECR TUSC3	10195 11253 132158 148789 1557 18 23236 2597 26275 2645 275 284098 3155 3295 3340 501 5048 51227 5160 523 5277 5279 5373 55768 64116 6487 7355 781 79143 7957 79644 79868 7991 79947 80055 81562 85365 8867 9091 91869 9524	Homo sapiens (human)
DOID:2479	central nervous system origin vertigo Aliases: Vertigo of central origin central vestibular vertigo	ACHE COMT CYP3A5 FKRP GCDH GLA GYG1 NAGA NT5E SGSH	1312 1577 2639 2717 2992 43 4668 4907 6448 79147	Homo sapiens (human)
DOID:2477	motor peripheral neuropathy Aliases: HSMN HSMN - Hereditary sensory and motor neuropathy Hereditary motor and sensory neuropathy Peripheral Motor Neuropathy neuropathic muscular atrophy	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:2476	hereditary spastic paraplegia Aliases: French settlement disease Strumpell-Lorrain disease familial spastic paraplegia hereditary spastic paraparesis	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM L2HGDH MAG PCYT2 PLA2G6 PNPLA6 PNPLA7 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 375775 3897 4099 51302 57704 5833 79944 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:2474	vernal conjunctivitis	CHIA LGALS3	27159 3958	Homo sapiens (human)
DOID:2468	psychotic disorder Aliases: mental or behavioural disorder	ABO ACADS ACE ACHE ACOT7 ACSL4 ACSL6 ACSS2 ADH1B ALDH2 ALDH5A1 ALDH7A1 ALG9 ARSA ARSB ARSD B3GAT1 CACNA2D4 CALR CD22 CDH13 CHAT CHI3L1 CHPT1 CNTN4 COMT CYP27B1 CYP2B6 CYP2C19 CYP3A5 DEGS1 DEGS2 DGKH DHDDS EPM2A EXT1 G6PD GAD1 GAD2 GALNS GLUL HPGDS HSD11B1 HSD17B12 HSPG2 ICAM1 IDH1 IDUA INPP5K ISYNA1 LGALS3 MACROD2 MAG MANEA ME2 MGAT1 MICA NCAM1 NPL PAFAH1B1 PI4K2B PI4KA PIGL PIK3C2A PIP4K2A PLA2G15 PLA2G1B PLA2G4A PPT1 PRNP PTEN PTGDS PTGS2 RGMA RTN4R SDC2 SLC27A5 SMPD1 SMUG1 SPTLC1 SRGN ST3GAL1 ST8SIA2 TMTC1 VCAM1	100507436 1012 10558 10998 1103 1116 11332 123099 125 1312 140733 152330 1555 1557 1577 1594 160851 1636 2131 217 2182 23305 23583 23659 2539 2571 2572 2588 27087 27306 2752 28 3290 3339 3383 3417 3425 35 3958 4099 410 411 414 4200 4245 43 4684 501 5048 51144 51477 51763 5286 5297 5305 5319 5321 55300 5538 5552 55902 5621 56963 56994 5728 5730 5743 6383 6482 65078 6609 7412 7915 7957 79694 79796 79947 80896 811 8128 83857 8560 933 93589 9487	Homo sapiens (human)
DOID:2457	giant papillary conjunctivitis	CHIA LGALS3	27159 3958	Homo sapiens (human)
DOID:2452	thrombophilia Aliases: hypercoagulability state	A4GALT ABO ACE ACSM3 ACSS2 ALG6 ANXA5 B3GAT2 CALR CAT CD14 CEACAM5 CEACAM7 CHI3L1 CLEC1B COMT CYP19A1 CYP1A1 CYP1A2 CYP2C9 CYP3A5 CYP4F2 DLD DPM1 DPM2 EXT1 FCGR3B GBGT1 GFRA1 GLA GPI GPX3 HPSE IDH1 IDH2 LCT LPL LTC4S MBL2 MGAT2 MGLL MPI NGLY1 NT5E PC PIGA PIGM PLA2G15 PLA2G1B PLA2G2A PLA2G6 PLB1 PLCG2 PMM2 PPP1R3B PPP1R3C PTEN SCD SDC1 SELE SELP SMPD1 SMUG1 SRD5A3 ST3GAL4 STS TKTL1 TM7SF2 VCAM1	1048 10855 1087 1116 11343 1312 135152 151056 1543 1544 1559 1577 1588 1636 1738 2131 2215 23583 23659 26301 2674 2717 28 2821 2878 29929 308 3417 3418 3938 4023 4056 412 4153 4247 4351 4907 5091 51266 5277 5319 5320 5336 5373 53947 5507 55768 55902 5728 6296 6319 6382 6401 6403 6484 6609 7108 7412 79644 79660 811 8277 8398 847 8529 8813 8818 929 93183	Homo sapiens (human)
DOID:2451	protein S deficiency Aliases: Protein S deficiency disease	ABO ACE ALG6 ANXA5 CEACAM5 CEACAM7 CYP2C9 DLD DPM1 DPM2 GLA HPSE LCT MBL2 MGAT2 MPI NGLY1 PC PIGA PMM2 PPP1R3B PPP1R3C PTEN SCD SDC1 SELP SMPD1 SRD5A3 STS	1048 10855 1087 1559 1636 1738 2717 28 29929 308 3938 412 4153 4247 4351 5091 5277 5373 5507 55768 5728 6319 6382 6403 6609 79644 79660 8813 8818	Homo sapiens (human)
DOID:2450	central retinal vein occlusion	HPSE ICAM1 NDUFAB1 PLA2G1B PLA2G2A PLA2G6 PNP	10855 3383 4706 4860 5319 5320 8398	Homo sapiens (human)
DOID:2449	acromegaly	ACE ALPP ATRNL1 CALR CYP11B2 DGCR2 HSD11B1 KL LGALS3 LPL NAMPT RENBP	10135 1585 1636 250 26033 3290 3958 4023 5973 811 9365 9993	Homo sapiens (human)
DOID:2444	hyperpituitarism	ACE ALPP ATRNL1 CALR CYP11B2 DGCR2 HSD11B1 KL LGALS3 LPL NAMPT RENBP	10135 1585 1636 250 26033 3290 3958 4023 5973 811 9365 9993	Homo sapiens (human)
DOID:2436	glomangioma Aliases: Glomuvenous Malformation	SDHB SDHD	6390 6392	Homo sapiens (human)
DOID:2433	epidermal appendage tumor Aliases: neoplasm of skin with adnexal differentiation neoplasm of the skin Appendage skin appendage tumour	ACACA	31	Homo sapiens (human)
DOID:2431	glomus tumor Aliases: Glomus neoplasm Glomus tumour	C1GALT1C1 CALR CD14 CTSA DPM1 GAS1 GPC6 HSD17B2 IDH1 IDH2 IGF2R IL18R1 MAG PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PNPLA2 PNPLA6 PTEN SDHB SDHD	10082 10908 2619 29071 3294 3417 3418 3482 4099 5281 5290 5291 5293 5294 5310 5476 57104 5728 6390 6392 811 8809 8813 929	Homo sapiens (human)
DOID:2426	gangliocytoma Aliases: gangliocytoma of central nervous system	CD44 CS LGALS3 NCAM1 PTEN SDHC SIGLEC7	1431 27036 3958 4684 5728 6391 960	Homo sapiens (human)
DOID:2411	granular cell tumor Aliases: neoplasm of granular cell	ATP6AP2 FASN PTEN	10159 2194 5728	Homo sapiens (human)
DOID:2401	clitoris cancer Aliases: Clitoral Ca carcinoma of Clitoris clitoral cancer malignant neoplasm of clitoris malignant tumor of Clitoris	ABO PTEN PTGS2 SMUG1	23583 28 5728 5743	Homo sapiens (human)
DOID:240	iris disease	ACAN ACE AKR1B1 CD14 CYP24A1 CYP27B1 EXTL3 ICAM1 IL1RAP MICA OVGP1 PIK3CA PIK3CB PIK3CG PLA2G15 RPE RTN4R SMUG1 TM7SF2 VCAN VTCN1	100507436 1462 1591 1594 1636 176 2137 231 23583 23659 3383 3556 5016 5290 5291 5294 6120 65078 7108 79679 929	Homo sapiens (human)

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