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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 **4976 - 5000** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:4971	myelofibrosis Aliases: Agnogenic myeloid metaplasia Aleukemic myelosis Megakaryocytic myelosclerosis bone Marrow Fibrosis myelosclerosis primary myelofibrosis	ACE AKR1C4 ALPI ALPP CALR CAT CD177 CEACAM5 CEACAM6 CHI3L1 CHIT1 FREM1 G6PD IDH1 IDH2 IL18R1 LDHA LDHB LGALS1 LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG PRG2 SELP SOAT1 STS TBXAS1 TP53	1048 1109 1116 1118 158326 1636 248 250 2539 3417 3418 3939 3945 3956 3958 412 4680 5290 5291 5293 5294 5553 57126 6403 6646 6916 7157 811 847 8809	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	ABO ACE ACOX1 ADH7 ALDH3A2 ALDH7A1 ALG12 AMACR ARSI BCAN CA4 CANX CAT CD44 CD74 COG4 CTNS DGKE DHDDS ECHS1 ELOVL4 ELOVL6 FASN FKRP G6PD GK GLO1 GMPPB GNPTG HADH HADHA HADHB HGSNAT HK1 HK2 HKDC1 HSD17B6 IDH2 IDH3A IDH3B IMPA1 KL LARGE1 LPCAT1 MDH1 NAGLU NGLY1 NYX PDHA1 PMM2 PNPLA2 PNPLA6 POMGNT1 POMT1 POMT2 PRNP PRPS1 PTEN RPE SDHA SDHB SDHD SFTPD SGSH SMC3 SYNJ1 TMED3	10585 10908 131 138050 1497 1636 1892 2194 224 23423 23600 2539 25839 2710 2739 28 29925 29954 3030 3032 3033 3098 3099 340075 3418 3419 3420 3612 4190 4669 501 51 5160 5373 55624 55768 5621 5631 57104 5728 60506 6120 63827 6389 6390 6392 6441 6448 6785 762 79071 79087 79147 79888 79947 80201 821 84572 847 8526 8630 8867 9126 9215 9365 960 972	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:3283	invasive malignant thymoma Aliases: Infiltrating Thymoma Thymoma malignant Invasive	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:0110458	dilated cardiomyopathy 1BB Aliases: CMD1BB	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)	DisGeNET
DOID:9974	drug dependence	COMT CYP2B6 NCAM1	1312 1555 4684	Homo sapiens (human)	Alliance of Genome Resources
DOID:2877	larynx sarcoma Aliases: sarcoma of larynx	CD38	952	Homo sapiens (human)	DisGeNET
DOID:0060417	3p deletion syndrome Aliases: chromosome 3pter-P25 deletion syndrome distal monosomy 3p	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)	DisGeNET DisGeNET
DOID:9111	cutaneous leishmaniasis Aliases: Asian Desert Cutaneous Leishmaniasis Leproid leishmaniasis diffuse cutaneous leishmaniasis	CAT CLEC7A DPAGT1 FCN2 FDPS FH G6PD PGD PNP SLC5A1 TLR2 TLR4 TNF	1798 2220 2224 2271 2539 4860 5226 64581 6523 7097 7099 7124 847	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060786	hypomyelinating leukodystrophy Aliases: HLD	DEGS1	8560	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070227	intrahepatic cholestasis of pregnancy Aliases: ICP gravidic intrahepatic cholestasis pregnancy related cholestasis recurrent intrahepatic cholestasis of pregnancy	ACE CHI3L1 HPRT1 ISYNA1 KLB PLA2G1B PLA2G2A PLA2G6 PNPLA3 PTGES3 SLC17A5 VCAM1	10728 1116 152831 1636 26503 3251 51477 5319 5320 7412 80339 8398	Homo sapiens (human)	DisGeNET
DOID:0060309	syndromic X-linked intellectual disability Aliases: syndromic X-linked mental retardation	ATP6AP2	10159	Homo sapiens (human)	Alliance of Genome Resources
DOID:6620	X-linked hyper IgM syndrome Aliases: HIGM1 X-linked hyper-IgM immunodeficiency XHIM hyper-IgM immunodeficiency syndrome type 1 hyper-IgM syndrome 1 hyper-IgM syndrome type 1 immunodeficiency with hyper-IgM type 1	CHI3L1 FCER2 MRC1 UNG	1116 2208 4360 7374	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:6432	pulmonary hypertension	ACE ALOX5 CD209 CYP1A1 CYP2J2 DCN ENO1 EPHX2 HAS1 HAS2 HAS3 HK1 HYAL1 HYAL2 ICAM1 LGALS3 NAMPT PDIA3 PLA2G7 PTGIS PTGS2 SLC2A4 SMPD3 TNF VCAM1	10135 1543 1573 1634 1636 2023 2053 240 2923 3036 3037 3038 30835 3098 3373 3383 3958 55512 5740 5743 6517 7124 7412 7941 8692	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:1811	reflex sympathetic dystrophy	ACE CYP19A1 CYP24A1 ENO1 GAPDH GPC6 GPD2 GPX1 IDH2 KL MGLL OXCT1 PGLS PKM PNP TPI1	10082 11343 1588 1591 1636 2023 25796 2597 2820 2876 3418 4860 5019 5315 7167 9365	Homo sapiens (human)	DisGeNET DisGeNET
DOID:11818	ureteric orifice cancer Aliases: Orifice of the Ureter malignant neoplasm of ureteric orifice of urinary bladder malignant tumor of ureteric orifice	DHCR24	1718	Homo sapiens (human)	DisGeNET
DOID:0070430	combined oxidative phosphorylation deficiency 57 Aliases: COXPD57	CRLS1	54675	Homo sapiens (human)	Alliance of Genome Resources
DOID:37	skin disease Aliases: Genodermatosis skin and subcutaneous tissue disease	ACE AGXT AKR1B10 ALOX12 ALOX12B B4GALT6 B4GALT7 BST2 CD14 CD1D CD38 CD44 CHI3L1 CHST8 CYP24A1 CYP2B6 DCN DGKG DHCR24 EBP ELOVL4 ENPP2 FADS2 FCGR3B FDFT1 FH GALNT3 GALNTL5 GBA1 HK2 HSD11B1 HYAL1 IL1R1 IL1RAP INPP5A KDSR KL LGALS3 LSS LYZ MINPP1 MMUT MSMO1 NANS NTHL1 NTM OGG1 OLR1 PFKFB3 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLCD1 PLD2 POFUT1 PPT1 PRSS8 PTEN PTGS2 SCD SDC4 SDHD SIRT6 SOAT1 SPHK2 SPTLC1 STS SUCLG1 TNF VCAM1	10558 10682 1116 11285 1555 1591 1608 1634 1636 168391 1718 189 2215 2222 2271 23509 239 242 2531 2591 2629 3099 3290 3373 3554 3556 3632 3958 4047 4069 412 4594 4913 4968 4973 50863 51548 5168 5209 5236 5290 5291 5293 5294 5321 5333 5338 54187 5538 5652 56848 57016 5728 5743 6307 6319 6385 6392 64377 6646 6785 684 7124 7412 8802 912 929 9331 9365 9415 952 9562 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050526	Gamstorp-Wohlfart syndrome Aliases: autosomal recessive neuromyotonia and axonal neuropathy myokymia, myotonia and muscle wasting	ACHE CNTN2 PIK3C2A	43 5286 6900	Homo sapiens (human)	DisGeNET
DOID:0070127	congenital nongoitrous hypothyroidism 3 Aliases: CHNG3	ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD	145173 1946 2026 2539 427 43	Homo sapiens (human)	DisGeNET
DOID:0110542	autosomal dominant nonsyndromic deafness 10 Aliases: DFNA10 autosomal dominant deafness 10	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)	DisGeNET
DOID:3890	acute intermittent porphyria Aliases: AIP - acute intermittent porphyria Pyrroloporphyria porphyria intermittent acute	ARSA CAT CYP3A5 CYP4F3 DEGS1 DPAGT1 ENO1 SMUG1	1577 1798 2023 23583 4051 410 847 8560	Homo sapiens (human)	DisGeNET
DOID:0080492	leukocyte adhesion deficiency 2	DHCR7 DLD FUT4 SLC35C1	1717 1738 2526 55343	Homo sapiens (human)	DisGeNET
DOID:1725	peritoneum cancer	PRG2	5553	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050127	sinusitis	CHIA LTC4S PLAUR PNP PTGDS SFTPA1 SFTPD ST8SIA4 TLR2 TLR4	27159 4056 4860 5329 5730 6441 653509 7097 7099 7903	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060322	mastoiditis	NT5E TLR2 TLR4	4907 7097 7099	Homo sapiens (human)	DisGeNET Alliance of Genome Resources

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