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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 **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:5389	oxyphilic adenoma Aliases: Follicular adenoma, oxyphilic cell Oncocytoma	AMACR CD44 FH HMMR HYAL4 LDHA NCAM1 PGK1 PRSS8 PTEN PTGS1 PTGS2 SDHA SDHB SLC2A2 SLC2A4 SMUG1 VCAM1	2271 23553 23583 23600 3161 3939 4684 5230 5652 5728 5742 5743 6389 6390 6514 6517 7412 960	Homo sapiens (human)
DOID:0111206	autosomal dominant distal hereditary motor neuronopathy 2 Aliases: HMN II HMN IIA HMN2 HMN2A autosomal dominant adult spinal muscular atrophy IIA distal hereditary motor neuronopathy type 2 distal hereditary motor neuronopathy type 2A distal hereditary motor neuropathy type II distal hereditary motor neuropathy type IIA spinal Charcot-Marie-Tooth disease IIA	PLA2G1B PLB1	151056 5319	Homo sapiens (human)
DOID:1923	disorder of sexual development Aliases: sex development disorder sex differentiation disease	AKR1C1 AKR1C2 AKR1C3 AKR1C4 CDIPT CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 CYP2B6 DHCR24 DHRS11 GAS1 HSD17B3 HSD17B7 HSD3B1 HSD3B2 MECR PGD PKD2 PRSS21 SRD5A2	10423 10942 1109 1555 1583 1584 1586 1588 1589 1645 1646 1718 2619 3283 3284 3293 51102 51478 5226 5311 6716 79154 8644	Homo sapiens (human)
DOID:6262	follicular dendritic cell sarcoma Aliases: Follicular Dendritic cell sarcoma Follicular dendritic cell tumour	FCER2 SLC35B2	2208 347734	Homo sapiens (human)
DOID:12689	acoustic neuroma Aliases: Vestibular Neurilemmoma Vestibular schwannoma	ACHE ALDH1A3 ALOX5 ALPL ARSA B3GAT1 CAT CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP2C9 CYP2E1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 G6PD GAPDH GPX1 HPGDS HPRT1 IDH1 IDH2 IL18R1 LARGE1 LDHA LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NCAM1 NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PRNP PTEN PTGDS PTGS1 PTGS2 SCP2 SDHB SDHC SDHD SIGLEC7 SMUG1 SOAT1 STS TIPARP TMEM165 TNKS VCAN	10232 10724 1462 151056 1543 1545 1559 1571 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2539 2597 25976 27036 27087 27306 2876 3251 3417 3418 3939 3956 3958 4051 410 412 43 4594 4595 4684 4907 4913 5290 5291 5293 5294 5319 5320 5329 55858 5621 5728 5730 5742 5743 6342 6390 6391 6392 64386 6646 7941 8398 847 8658 8809 9215 945 960	Homo sapiens (human)
DOID:5723	optic atrophy Aliases: atrophy of optic disc	ACO2 ACOX1 AGXT ALG13 ALG3 ARSA ATP6V1A B3GALNT2 B3GLCT B4GAT1 CA4 CHSY1 COMT CRPPA CYP1B1 CYP2B6 CYP7B1 DAG1 DGKG EBP ECHS1 ENO2 FCSK FH FKRP FKTN GALC GLA GLB1 GMPPA GMPPB GPAA1 HGSNAT HSD17B6 IDH3A IDH3B INPP5K L2HGDH LARGE1 MAG MCAT MECR MMUT MOGS MPDU1 NAGA NGLY1 PCK1 PDHA1 PDHX PIGQ PIK3CA PKLR PLA2G6 PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPT1 PRKAA2 PRPS1 PSAP RPIA RXYLT1 SDHA SDHD SLC5A1 SRD5A3 ST3GAL5 STT3B SUMF1 SYNJ1 TMED9 TMTC3 TREH VCAN	10195 10329 10585 10682 10908 11041 11181 1312 138050 145173 1462 148789 1545 1555 160418 1605 1608 189 1892 197258 201595 2026 2218 2271 22856 22934 2581 2717 2720 27349 285362 29925 29926 29954 3419 3420 4099 410 4594 4668 50 51 5105 51102 5160 51763 523 5290 5313 54732 5538 55624 5563 55768 5631 5660 6389 6392 6523 729920 762 7841 79147 79644 79868 79944 8050 8398 84197 84892 8630 8733 8867 8869 9091 9215 9420 9526	Homo sapiens (human)
DOID:0050785	progressive relapsing multiple sclerosis Aliases: PRMS Progressive-relapsing MS	LGALS3 RGMA SOAT1	3958 56963 6646	Homo sapiens (human)
DOID:1405	primary angle-closure glaucoma Aliases: primary Angle Closure Glaucoma	AKR1C4 CAT CHAT CYP1B1 CYP2B6 DCN DPM2 NT5E OGG1	1103 1109 1545 1555 1634 4907 4968 847 8818	Homo sapiens (human)
DOID:0080307	myofibrillar myopathy	CS PTEN	1431 5728	Homo sapiens (human)
DOID:3878	obsolete intestinal pseudo-obstruction	IDS L1CAM PTEN SDHD	3423 3897 5728 6392	Homo sapiens (human)
DOID:0110219	Brugada syndrome 2 Aliases: BRGDA2	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:0060740	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Aliases: methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria mut type vitamin B12-unresponsive methylmalonic aciduria	MAN2B1 MMUT	4125 4594	Homo sapiens (human)
DOID:0110052	amelogenesis imperfecta type 1B Aliases: AI1B AIH2 amelogenesis imperfecta type IB autosomal dominant hypoplastic local amelogenesis imperfecta hereditary localized enamel hypoplasia	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)
DOID:0070133	autosomal recessive cutis laxa type IB Aliases: ARCL1B	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:11782	astigmatism	ARSG ART1 COL9A2 MAG MELTF PCYT1A SLC39A8	1298 22901 4099 417 4241 5130 64116	Homo sapiens (human)
DOID:0110533	autosomal recessive nonsyndromic deafness 88 Aliases: DFNB88 autosomal recessive deafness 88	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)
DOID:0050745	diffuse large B-cell lymphoma Aliases: DLBCL	ABO ACSBG1 AMACR ANXA5 APRT CALR CAT CD109 CD22 CD38 CD44 CD74 CDH13 CDS1 CYP17A1 CYP1A1 CYP24A1 EFNA5 ENO2 FASN FBP1 FCGR3B GAPDH GBA1 GPI GPX1 HK2 HMMR HPGDS ICAM1 IDH1 IDH2 IL1RAPL1 INPP5D KDSR KL LGALS16 LGALS1 LGALS3 LPL LY6K LYPD5 MASP2 MCAT MTAP NCAM1 NT5E OGT PARP14 PARP1 PARP9 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLCG2 PRKAA2 PTEN PTGS2 SDC1 SELL SMUG1 SOAT1 SPHK1 STS TP53 UGCG UMOD VTCN1	1012 1040 10747 11141 135228 142 148003 1543 1586 1591 1946 2026 2194 2203 2215 23205 23583 23600 2531 2597 2629 27306 27349 28 2821 284348 2876 308 3099 3161 3383 3417 3418 353 3635 3956 3958 4023 412 4507 4684 4907 5130 5290 5291 5293 5294 5336 54625 54742 5563 5728 5743 6382 6402 6646 7157 7357 7369 79679 811 83666 847 8473 8877 933 9365 952 960 972	Homo sapiens (human)
DOID:1614	male breast cancer Aliases: malignant neoplasm of male breast neoplasm of male breast	CYP17A1 CYP19A1 CYP1B1 HSD17B1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1	1545 1586 1588 23583 3292 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:2351	iron metabolism disease Aliases: disorder of iron metabolism iron disorder	ACACA ACE ACO1 AKR1D1 ALPP ANXA5 ARSA ATRNL1 CALR CAT CCDC115 CYP27B1 G6PD GALNS GLUL GNPAT GPX1 HJV IL1R1 NDUFAB1 PNPLA3 PRNP SLC17A5 SLC39A8 SMPD1 VCAM1	148738 1594 1636 250 2539 2588 26033 26503 2752 2876 308 31 3554 410 4706 48 5621 64116 6609 6718 7412 80339 811 84317 8443 847	Homo sapiens (human)
DOID:612	primary immunodeficiency disease Aliases: hypoimmunity immune deficiency disorder immunodeficiency syndrome	ACSBG1 AGL AGPAT2 AKR1B10 APRT ARSA BST2 CALR CD14 CD33 CD38 CD44 CEACAM5 CLEC16A CLEC9A CMAS COG6 COMT CYP2B6 DLD FASN FCN2 FCN3 G6PC3 G6PD GAA GLB1 GPC3 GPI HPSE HSD17B7 ICAM1 IDH1 IL18R1 IL6ST KLRD1 LGALS1 LGALS3 MAN2B2 MBL2 MICA MLYCD MMUT NT5E OAS1 PARP1 PGM3 PIGQ PIK3CA PIK3CB PIK3CD PIK3CG PLD1 PNP PPT1 PRPS1 PTEN PTGS1 PTGS2 SCD5 SDC1 SOAT1 ST6GAL1 ST8SIA1 TLR4 UNG VTCN1	100507436 1048 10555 10855 1312 142 1555 1738 178 2194 2220 23205 23274 23324 23417 2539 2548 2719 2720 2821 283420 3383 3417 353 3572 3824 3956 3958 410 4153 4594 4860 4907 4938 51478 5238 5290 5291 5293 5294 5337 5538 55907 5631 57016 5728 5742 5743 57511 6382 6480 6489 6646 684 7099 7374 79679 79966 811 8547 8809 9091 92579 929 945 952 960	Homo sapiens (human)
DOID:12960	acrocephalosyndactylia Aliases: Apert syndrome	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:10937	impulse control disorder	APRT COMT PAFAH1B1 PLCD1 PLCG1	1312 353 5048 5333 5335	Homo sapiens (human)
DOID:0080037	Worth syndrome Aliases: Worth's syndrome autosomal dominant endosteal hyperostosis autosomal dominant osteosclerosis benign form of Worth hyperostosis corticalis generalisata with torus platinus	LRP5	4041	Homo sapiens (human)
DOID:14039	POEMS syndrome	CYP19A1 SDC1	1588 6382	Homo sapiens (human)
DOID:6082	childhood testicular germ cell tumor Aliases: paediatric testicular germ cell neoplasm paediatric testicular germ cell tumour pediatric testicular germ cell neoplasm pediatric testicular germ cell tumor	HPGDS MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN	27306 4360 5290 5291 5293 5294 5716 5728	Homo sapiens (human)

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