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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 **3226 - 3250** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0081210	autosomal recessive intellectual developmental disorder 46	NDST1	3340	Homo sapiens (human)
DOID:10602	obsolete steatorrhea	ACOX2 BAAT CYP7B1 HSD3B7 LIPA PNLIP	3988 5406 570 80270 8309 9420	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:0110724	neuronal ceroid lipofuscinosis 8 northern epilepsy variant Aliases: EPMR northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant progressive epilepsy with mental retardation, northern epilepsy progressive epilepsy-intellectual disability syndrome, Finnish type	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PKD1 PPT1 PPT2 PSAP	1203 22901 2571 2572 3956 47 5310 5538 5660 7957 9374	Homo sapiens (human)
DOID:11400	pyelonephritis	ACE APRT CAT CYP2C9 DCN DHCR7 DPEP1 GLA HSPG2 IL18R1 MMUT PLA2R1 REG3G SDC1 SDC2 SFTPA1 SFTPA2 SFTPD SLC3A1 TLR1 TM7SF2 UMOD	130120 1559 1634 1636 1717 1800 22925 2717 3339 353 4594 6382 6383 6441 6519 653509 7096 7108 729238 7369 847 8809	Homo sapiens (human)
DOID:9821	choroideremia Aliases: progressive Choroidal Atrophy	IL1RL1 RPE	6120 9173	Homo sapiens (human)
DOID:0060843	hereditary neuropathy with liability to pressure palsies Aliases: HNPP current pressure-sensitive neuropathy familial recurrent polyneuropathy heterozygous microdeletion 17p11.2p12 potato-grubbing palsy tomaculous neuropathy tulip-bulb digger's palsy	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GLB1 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 2720 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:2282	hidradenitis Aliases: Hydradenitis	ANXA5 CHI3L1 CYP4F3 ELOVL7 IDH1 IDH2 IDH3B IL1RL2 KLRB1 SULT1E1	1116 308 3417 3418 3420 3820 4051 6783 79993 8808	Homo sapiens (human)
DOID:3240	aspiration pneumonitis Aliases: Chemical pneumonitis Mendelson's Syndrome	ACE CAT CHAT PMM2	1103 1636 5373 847	Homo sapiens (human)
DOID:9008	psoriatic arthritis Aliases: arthritis psoriatica arthropathic psoriasis	ACACA ACADM ACE APRT CD14 CD248 CD38 CPT1A CPT2 CYP11B2 CYP1A1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 DLAT ELOVL6 FADS2 FCGR3B FUT1 KLRB1 MBL2 MICA PCCA PCCB PFKFB3 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PTGS1 PTGS2 SELL SFTPA2 SIRT6 SLC2A4 TNF UGCG XYLT2	100507436 1374 1376 1543 1555 1557 1585 1589 1591 1593 1594 1636 1737 2215 2523 31 34 353 3820 4153 5095 5096 51548 5209 5236 5290 5291 5293 5294 5315 5321 57124 5742 5743 6402 64132 6517 7124 729238 7357 79071 929 9415 952	Homo sapiens (human)
DOID:14271	acute cholangitis	CAT	847	Homo sapiens (human)
DOID:0110252	cataract 37 Aliases: CTRCT37	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:0110545	autosomal dominant nonsyndromic deafness 13 Aliases: DFNA13 autosomal dominant deafness 13	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:0060705	X-linked lymphoproliferative syndrome 1 Aliases: XLP1	CD1D FUT1 HPGDS HPRT1 PLCG1	2523 27306 3251 5335 912	Homo sapiens (human)
DOID:12800	mucopolysaccharidosis VI Aliases: MPS VI - Maroteaux-Lamy syndrome Maroteaux - Lamy syndrome Maroteaux-Lamy syndrome arylsulfatase B deficiency deficiency of N-acetylgalactosamine-4-sulfatase	ACAN AGA APRT ARSA ARSB ARSG ARSH CANX CAT CD1D CD38 CTSA DPEP1 EXTL2 EXTL3 FUCA1 FUT1 GALNS GLB1 GNE GNPTAB GNPTG GNS GUSB HGSNAT HYAL1 HYAL2 IDS IDUA L1CAM MAN2B1 NAGLU NEU1 NT5E OGA SGSH SLC26A2 SLC35G1 SPAM1 SUMF1 TNF	10020 10724 138050 159371 175 176 1800 1836 2135 2137 22901 2517 2523 2588 2720 2799 285362 2990 3373 3423 3425 347527 353 3897 410 411 4125 4669 4758 4907 5476 6448 6677 7124 79158 821 84572 847 8692 912 952	Homo sapiens (human)
DOID:0110910	leukocyte adhesion deficiency 1 Aliases: LAD1 LFA1 immunodeficiency leukocyte adhesion deficiency type I lymphocyte function-associated antigen 1 immunodeficiency	KLRK1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SLC2A10 VCAM1	22914 5290 5291 5293 5294 5728 7412 81031	Homo sapiens (human)
DOID:0080490	mucolipidosis type IV	HEXA	3073	Homo sapiens (human)
DOID:0060076	estrogen-receptor negative breast cancer	CYB5R3	1727	Homo sapiens (human)
DOID:3516	adult fibrosarcoma	ACE AKR1A1 AKR1B1 ANXA5 APRT CD44 CHST3 DLD EBP GLB1 GLO1 GPI HK1 HPRT1 HSPG2 IDH1 MMP25 MTAP NAMPT PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PSAP PTGES3 PTGS2 SDC1 SDC2 SIGLEC7 SMPD1 STS	10135 10327 10682 10728 142 1636 1738 231 27036 2720 2739 2821 308 3098 3251 3339 3417 353 412 4507 5091 5290 5291 5293 5294 5660 5743 6382 6383 64386 6609 9469 960	Homo sapiens (human)
DOID:0110512	autosomal recessive nonsyndromic deafness 6 Aliases: DFNB6 autosomal recessive deafness 6	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:11427	endosalpingiosis	OVGP1	5016	Homo sapiens (human)
DOID:0050746	mantle cell lymphoma	CD74 FASN FCER2 FH FMOD FUT1 HACD1 HPGDS MRC1 MTAP PARP1 PIK3CA PIK3CB PIK3CD PIK3CG SLC35B2 SMUG1	142 2194 2208 2271 2331 23583 2523 27306 347734 4360 4507 5290 5291 5293 5294 9200 972	Homo sapiens (human)
DOID:6543	acne Aliases: Acne varioliformis acne vulgaris frontalis acne	ACE AGA CAT CHI3L1 COMT CYP17A1 CYP19A1 ENPP1 GALNS H6PD HSD17B3 HSD3B1 HSD3B2 L1CAM LPIN2 LPL LYZ PAPSS2 PTGS2 ST8SIA4 TLR2 TLR4 TNF XYLT1	1116 1312 1586 1588 1636 175 2588 3283 3284 3293 3897 4023 4069 5167 5743 64131 7097 7099 7124 7903 847 9060 9563 9663	Homo sapiens (human)
DOID:668	myositis ossificans Aliases: Myisitis ossificans Ossification - muscle	APRT CD14 COMT DPEP1 ENPP2 GPC1 SDC2 SDC4	1312 1800 2817 353 5168 6383 6385 929	Homo sapiens (human)
DOID:1572	normal pressure hydrocephalus Aliases: Low pressure hydrocephalus	ACE ALDH3A2 MLYCD NCAN PRNP PSMD10 SMUG1 UMOD	1463 1636 224 23417 23583 5621 5716 7369	Homo sapiens (human)

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