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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	Source ▼
DOID:11120	psychologic dyspareunia Aliases: Dyspareunia, psychogenic Non-organic dyspareunia	ACE ACHE ACSS2 ALDH7A1 CDH13 CYP19A1 ENO2 HEXB HJV HMGCS2 HS6ST1 LPL PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PNPLA2 SDC1 SOAT1	1012 148738 1588 1636 2026 23659 3074 3158 4023 43 501 5130 5290 5291 5293 5294 55902 57104 6382 6646 9394	Homo sapiens (human)	DisGeNET
DOID:1875	impotence Aliases: Sexual impotence erectile dysfunction	ACE ACHE ACSS2 AKT1 ALDH7A1 BAD CDH13 CYP19A1 ENO2 HEXB HJV HMGCS2 HS6ST1 LPL PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PNPLA2 SDC1 SOAT1 TNF	1012 148738 1588 1636 2026 207 23659 3074 3158 4023 43 501 5130 5290 5291 5293 5294 55902 57104 572 6382 6646 7124 9394	Homo sapiens (human)	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:0050989	episodic ataxia type 1	ACHE CNTN2 PIK3C2A	43 5286 6900	Homo sapiens (human)	DisGeNET
DOID:4248	coronary stenosis Aliases: Coronary artery stenosis	ACE ALDH2 CYP2R1 DLD GGT1 ICAM1 KL LPL OLR1 PCYT1A PLA2G1B PLA2G2A PLA2G6 PTEN SFTPD SRGN SULT1E1	120227 1636 1738 217 2678 3383 4023 4973 5130 5319 5320 5552 5728 6441 6783 8398 9365	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:5732	pyosalpinx Aliases: Pyosalpingitis	ABO CHI3L1 CTSA FCGR3B MAN1B1 PIK3CD	1116 11253 2215 28 5293 5476	Homo sapiens (human)	DisGeNET
DOID:1003	pelvic inflammatory disease Aliases: PID	ABO CHI3L1 CTSA FCGR3B MAN1B1 PIK3CD	1116 11253 2215 28 5293 5476	Homo sapiens (human)	DisGeNET
DOID:1260	parametritis Aliases: pelvic cellulitis	ABO CHI3L1 CTSA FCGR3B MAN1B1 PIK3CD	1116 11253 2215 28 5293 5476	Homo sapiens (human)	DisGeNET
DOID:10974	oophoritis	ABO CHI3L1 CTSA FCGR3B MAN1B1 PIK3CD	1116 11253 2215 28 5293 5476	Homo sapiens (human)	DisGeNET
DOID:5733	salpingitis	ABO CHI3L1 CTSA FCGR3B MAN1B1 PIK3CD	1116 11253 2215 28 5293 5476	Homo sapiens (human)	DisGeNET
DOID:8411	kidney angiomyolipoma Aliases: Angiomyolipoma of kidney renal Angiomyolipoma	ABO LGALS3 OGG1 PLA2G1B SMUG1	23583 28 3958 4968 5319	Homo sapiens (human)	DisGeNET
DOID:2048	autoimmune hepatitis Aliases: Autoimmune chronic active hepatitis autoimmune hepatitis with centrilobular necrosis	ACACA ACE ADIPOQ ALDOB ARSA CAT CD1D CD74 CFC1 CHST3 CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP1A2 CYP21A2 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 DBT DLAT FH GPI GPX1 HK1 HPGDS HSD11B2 HSD17B3 HSD17B6 HSD3B2 INPP5D KLRC1 KLRK1 LGALS9 OGT PDIA3 SLC17A5 SLC2A3 SMUG1 TNF UMOD	1544 1555 1557 1559 1571 1576 1583 1584 1586 1588 1589 1629 1636 1737 2271 229 22914 23583 26503 27306 2821 2876 2923 3098 31 3284 3291 3293 3635 3821 3965 410 55997 6515 7124 7369 847 8473 8630 912 9370 9469 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0111338	isolated elevated serum creatine phosphokinase levels Aliases: elevated serum CPK idiopathic hyperCKemia isolated hyperCKemia	ACADM ACADVL AGL ALG14 ALG2 B3GALNT2 B4GALT1 B4GAT1 CHKB COG7 COG8 CPT1A CPT2 CRPPA DAG1 DOLK DPAGT1 DPM1 DPM2 DPM3 ENO3 FKRP FKTN GAA GFPT1 GMPPB GNE HSPG2 INPP5K LARGE1 LDHA LPIN1 OCRL PGAM2 PIGY PKD1 PLA2G6 PNPLA2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PYGM SDHA SUCLA2 SYNJ1 TMEM165	10020 10585 11041 1120 1374 1376 148789 1605 178 1798 199857 2027 2218 22845 23175 2548 2673 2683 29925 29954 3339 34 37 3939 4952 51763 5224 5310 54344 55624 55858 56983 57104 5837 6389 729920 79147 8398 84197 84342 84892 84992 85365 8803 8813 8818 8867 91949 9215	Homo sapiens (human)	DisGeNET
DOID:5815	cerebral lymphoma Aliases: brain primary lymphoma primary Lymphoma of Cerebrum primary cerebral lymphoma	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:10071	larynx squamous papilloma Aliases: Laryngeal Squamous Cell Papilloma	PTEN	5728	Homo sapiens (human)	DisGeNET
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	ALOX12B CD44 FCER2 PIGA PRSS8	2208 242 5277 5652 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:11044	gastroschisis	ACSS2 DSE ICAM1 PLA2G15 STS	23659 29940 3383 412 55902	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3112	papillary adenocarcinoma Aliases: Infiltrating and papillary adenocarcinoma infiltrating papillary adenocarcinoma	ACE ACHE AGK AGRN AKR1C2 ALDH1A3 ALOX12B ALOX5 AMACR ANXA4 ANXA5 APRT B4GALNT3 CD38 CD44 CD74 CEMIP CERS1 CERS2 CHI3L1 CPT1C CYP19A1 CYP1A1 CYP24A1 CYP27B1 CYP2R1 DCN DHCR24 EBP ELOVL2 ENPP2 FASN FCER2 FCGR3B FH FUCA1 FUT4 G6PD GAPDH GAS1 GGT1 GLA GPC3 GPI GPNMB GPX3 GUSB HK2 HPGDS HPRT1 HPSE ICAM1 IDH1 IL1R1 INPP4B INPPL1 KLB L1CAM LDHA LDHB LGALS1 LGALS3 LMAN2L MCAT MINPP1 MMUT MRC1 NCAM1 NT5E OGG1 PARG PARP1 PC PCYT1A PDHB PGK1 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G2A PLA2G6 PLD2 PRKAA2 PTEN PTGDS PTGES3 PTGES PTGIS PTGS2 RECK RPIA SCD SDC4 SDHB SELE SELL SHMT1 SIRT6 SLC2A3 SMUG1 SPHK1 SPHK2 TKTL1 TM7SF2 TPI1 TYMP UGCG	10457 10682 10715 10728 10855 1116 120227 126129 142 152831 1543 1588 1591 1594 1634 1636 1646 1718 1890 2194 220 2208 2215 2271 22934 23583 23600 240 242 2517 2526 2539 2597 2619 2678 2717 2719 27306 27349 2821 283358 2878 2990 29956 307 308 3099 3251 3383 3417 353 3554 3636 375790 3897 3939 3945 3956 3958 43 4360 4594 4684 4907 4968 5091 5130 51548 5162 5168 5230 5236 5290 5291 5293 5294 5315 5319 5320 5338 54898 5563 55750 56848 57214 5728 5730 5740 5743 6319 6385 6390 6401 6402 6470 6515 7108 7167 7357 81562 8277 8398 8434 8505 8821 8877 952 9536 9562 960 972	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3969	thyroid gland papillary carcinoma Aliases: Papillary carcinoma of the Thyroid gland	ACE ACHE AGK AGRN AKR1C2 ALDH1A3 ALOX12B ALOX5 AMACR ANXA4 ANXA5 APRT B4GALNT3 BRAF CAT CD38 CD44 CD74 CEMIP CERS1 CERS2 CHI3L1 CPT1C CYP19A1 CYP1A1 CYP24A1 CYP27B1 CYP2R1 DCN DHCR24 EBP ELOVL2 ENPP2 FASN FCER2 FCGR3B FH FUCA1 FUT4 G6PD GAPDH GAS1 GGT1 GLA GPC3 GPI GPNMB GPX3 GUSB HK2 HPGDS HPRT1 HPSE ICAM1 IDH1 IL1R1 INPP4B INPPL1 KLB L1CAM LDHA LDHB LGALS1 LGALS3 LMAN2L MCAT MINPP1 MMUT MRC1 NCAM1 NT5E OGG1 PARG PARP1 PC PCYT1A PDHB PGK1 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G2A PLA2G6 PLD2 PRKAA2 PTEN PTGDS PTGES3 PTGES PTGIS PTGS2 RECK RPIA SCD SDC4 SDHB SELE SELL SHMT1 SIRT6 SLC2A3 SMUG1 SPHK1 SPHK2 TKTL1 TM7SF2 TP53 TPI1 TYMP UGCG	10457 10682 10715 10728 10855 1116 120227 126129 142 152831 1543 1588 1591 1594 1634 1636 1646 1718 1890 2194 220 2208 2215 2271 22934 23583 23600 240 242 2517 2526 2539 2597 2619 2678 2717 2719 27306 27349 2821 283358 2878 2990 29956 307 308 3099 3251 3383 3417 353 3554 3636 375790 3897 3939 3945 3956 3958 43 4360 4594 4684 4907 4968 5091 5130 51548 5162 5168 5230 5236 5290 5291 5293 5294 5315 5319 5320 5338 54898 5563 55750 56848 57214 5728 5730 5740 5743 6319 6385 6390 6401 6402 6470 6515 673 7108 7157 7167 7357 81562 8277 8398 8434 847 8505 8821 8877 952 9536 9562 960 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0080522	thyroid gland anaplastic carcinoma Aliases: anaplastic thyroid carcinoma	ACACA BCKDHB CAT CD1D CD44 CDH13 CLC CYP19A1 CYP24A1 CYP27B1 FDPS FUCA1 GAA GLO1 GPI HK2 ICAM1 IDH1 IDH2 IL18R1 KLB KLRK1 L1CAM LDHA LGALS3 MMUT PGD PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PTEN PTGS2 SCD TKT ULBP2	1012 1178 152831 1588 1591 1594 2224 22914 2517 2548 2739 2821 3099 31 3383 3417 3418 3897 3939 3958 4594 5226 5290 5291 5293 5294 5310 5315 5728 5743 594 6319 7086 80328 847 8809 912 960	Homo sapiens (human)	DisGeNET
DOID:5534	renal pelvis squamous cell carcinoma Aliases: Epidermoid carcinoma of the kidney Pelvis	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:0080038	pycnodysostosis	NT5E	4907	Homo sapiens (human)	DisGeNET
DOID:0090091	hypogonadotropic hypogonadism 23 with or without anosmia Aliases: 46,XY DSD due to LHB deficiency 46,XY DSD due to luteinizing hormone subunit beta deficiency 46,XY disorder of sex development due to LHB deficiency 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency Pasqualini syndrome fertile eunuch syndrome leydig cell hypoplasia due to LHB deficiency	AKR1C2 AKR1C4 CHST3 CYP11A1 CYP17A1 DHRS11 HSD17B3 HSD17B7 HSD3B2 SRD5A2	1109 1583 1586 1646 3284 3293 51478 6716 79154 9469	Homo sapiens (human)	DisGeNET
DOID:0050158	desquamative interstitial pneumonia Aliases: RBILD familial desquamative interstitial pneumonitis respiratory bronchiolitis-associated interstitial lung disease	COMT SFTPC	1312 6440	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:5518	penis squamous cell carcinoma Aliases: Epidermoid cell carcinoma of penis	CD109 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	135228 5290 5291 5293 5294 5728	Homo sapiens (human)	DisGeNET

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