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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 **2426 - 2450** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:11713	diabetic angiopathy Aliases: Diabetic vascular disorder diabetic peripheral angiopathy	ACE AKR1B1 ATP6AP2 CANX CAT GPX1 HPSE ICAM1 LGALS3 PTEN RBP4 RENBP SELL SMPD1 TNF	10159 10855 1636 231 2876 3383 3958 5728 5950 5973 6402 6609 7124 821 847	Homo sapiens (human)
DOID:9974	drug dependence	COMT CYP2B6 NCAM1	1312 1555 4684	Homo sapiens (human)
DOID:0050836	focal dystonia	ALDH5A1 ARSG PLA2G6	22901 7915 8398	Homo sapiens (human)
DOID:9955	hypoplastic left heart syndrome	ACE ACSS2 B3GLCT MGAT4A PKD1L2	11320 114780 145173 1636 55902	Homo sapiens (human)
DOID:369	olfactory neuroblastoma Aliases: Asthesioneuroblastoma Esthesioneuroblastoma Esthesioneuroepithelioma Olfactory Esthesioneuroblastoma paranasal sinus Olfactory neuroblastoma	IDH2 SMUG1	23583 3418	Homo sapiens (human)
DOID:0081215	autosomal recessive intellectual developmental disorder 52	LMAN2L	81562	Homo sapiens (human)
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	ACE AKR1B1 ALDH3A2 ALDH7A1 ALOX12B ALPL AMY2B APRT CANX CAT CERS3 DGAT1 EBP ELOVL4 ENPP1 GBA1 GLA GNPTAB GPX1 HPGDS HSD17B6 ICAM1 LPIN2 MPDU1 NCAM1 NT5E PKD1 PLA2G1B PNPLA2 PNPLA6 POGLUT1 PTEN PTGS2 SELE SELL SELP SGPL1 SMUG1 STS SULT2B1 XYLT1 XYLT2	10682 10908 1636 204219 224 231 23583 242 249 2629 2717 27306 280 2876 3383 353 412 4684 4907 501 5167 5310 5319 56983 57104 5728 5743 6401 6402 6403 64131 64132 6785 6820 79158 821 847 8630 8694 8879 9526 9663	Homo sapiens (human)
DOID:446	primary hyperaldosteronism Aliases: Cushing syndrome Cushing's syndrome hyperaldosteronism	ACAT1 ACE AKR1B1 APRT ATP6AP2 CD44 CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP3A4 CYP4F3 FASN FH G6PD HSD11B1 HSD11B2 HSD3B1 HSD3B2 LGALS3 OCRL PRSS8 PTGS2 SLC26A2 SLC33A1 SLC5A1 SMUG1	10159 1576 1583 1584 1585 1586 1588 1589 1636 1836 2194 2271 231 23583 2539 3283 3284 3290 3291 353 38 3958 4051 4952 5652 5743 6523 9197 9469 960	Homo sapiens (human)
DOID:2571	Langerhans-cell histiocytosis Aliases: Histiocytosis X Langerhan's cell histiocytosis Langerhans cell granulomatosis Letterer-Siwe disease Letterer-Siwe disease involving intra-abdominal lymph nodes Letterer-Siwe disease involving intrapelvic lymph nodes Letterer-Siwe disease involving intrathoracic lymph nodes Letterer-Siwe disease involving lymph nodes of axilla and upper limb Letterer-Siwe disease involving lymph nodes of head, face and neck Letterer-Siwe disease involving lymph nodes of head, face, and neck Letterer-Siwe disease involving lymph nodes of inguinal region and lower limb Letterer-Siwe disease involving lymph nodes of multiple sites Letterer-Siwe disease involving spleen Letterer-Siwe disease of intra-abdominal lymph nodes Letterer-Siwe disease of intrapelvic lymph nodes Letterer-Siwe disease of intrathoracic lymph nodes Letterer-Siwe disease of lymph nodes of axilla and upper limb Letterer-Siwe disease of lymph nodes of axilla and/or upper limb Letterer-Siwe disease of lymph nodes of head, face and neck Letterer-Siwe disease of lymph nodes of head, face and/or neck Letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb Letterer-Siwe disease of lymph nodes of inguinal region and lower limb Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb Letterer-Siwe disease of lymph nodes of multiple sites Letterer-Siwe disease of spleen	ACAA1 ACACA ACE ACSBG1 AKR1A1 AKR1C1 AKR1C3 ALPP AMACR ANXA5 APRT ATRNL1 BRAF CAT CD14 CD22 CD33 CD38 CD44 CD55 CDH13 CFC1 COMT CYP17A1 CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 EPHX2 FCGR3B FCN2 FH G6PD GBA1 GPX1 HPGDS ICAM1 IDH1 IDH2 KLRK1 LGALS1 LGALS3 LYZ MASP2 MCAT MTAP NCAM1 NTHL1 OGG1 PAFAH1B1 PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SELE SELL SHMT1 SHMT2 SLC35B2 SMUG1 SOAT1 TMEM260 VCAM1 VTCN1	1012 10327 10747 1312 142 1543 1545 1555 1559 1571 1586 1591 1594 1604 1636 1645 2053 2215 2220 2271 22914 23205 23583 23600 250 2539 26033 2629 27306 27349 2876 30 308 31 3383 3417 3418 347734 353 3956 3958 4069 4507 4684 4913 4968 5048 5091 5290 5291 5293 5294 54916 55997 5728 5743 6401 6402 6470 6472 6646 673 7412 79679 847 8644 929 933 945 952 960	Homo sapiens (human)
DOID:6263	inflammatory breast carcinoma Aliases: Inflammatory carcinoma of breast Mastitis carcinomatosa	B3GAT1 CD44 CTSA CYP1B1 DHCR24 GLO1 GPX3 HAGH IDH2 INPP4B PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SDC1 SELE	142 1545 1718 27087 2739 2878 3029 3418 5290 5291 5293 5294 5476 5728 5743 6382 6401 8821 960	Homo sapiens (human)
DOID:0110078	Leber congenital amaurosis 1 Aliases: LCA1 amaurosis congenita of Leber I	CYP3A4 FUT4 NYX PCYT1B RPE SORD	1576 2526 60506 6120 6652 9468	Homo sapiens (human)
DOID:13450	coccidioidomycosis Aliases: primary extrapulmonary coccidioidomycosis	ABO ATP6V1A CAT CD14 CD209 CLEC1A CLEC7A CYP2C19 CYP51A1 LGALS1 MBL2 MRC1	1557 1595 28 30835 3956 4153 4360 51267 523 64581 847 929	Homo sapiens (human)
DOID:0060283	peeling skin syndrome Aliases: deciduous skin familial continuous skin peeling syndrome keratosis exfoliativa congenita peeling skin disease	BST2 CHST8 GPI KLRB1	2821 3820 64377 684	Homo sapiens (human)
DOID:0050156	idiopathic pulmonary fibrosis Aliases: FIBROCYSTIC PULMONARY DYSPLASIA IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL cryptogenic fibrosing alveolitis	ACE AKT1 ALOX5 ALPI ALPP ANXA5 ATP6AP2 B3GAT3 CD248 CD55 CEACAM5 CEACAM7 CEL CEMIP CHI3L1 CTSA CYP2C9 DCN ELOVL6 ENPP2 FCGR3B FOLR2 GGT1 GLB1 HK2 HS6ST1 HS6ST2 ICAM1 IL18R1 IL1RL1 KL KLRK1 L1CAM LCLAT1 LDHA LGALS1 LGALS3 LTA4H MICA MPG MRC1 NEU1 NT5E PARP1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PRKAA2 PTEN PTGS1 PTGS2 SDC1 SDC2 SDC4 SEMA7A SFTPA1 SFTPA2 SFTPC SFTPD SHMT2 SIRT6 SLC27A5 SLC2A10 SLC2A5 SMUG1 SOAT1 SPHK1 SULF2 TM7SF2 VCAM1 VCAN	100507436 10159 1048 1056 1087 10998 1116 142 1462 1559 1604 1634 1636 207 2215 22914 2350 23583 240 248 250 253558 26229 2678 2720 308 3099 3383 3897 3939 3956 3958 4048 4350 4360 4758 4907 51548 5168 5290 5291 5293 5294 5310 5311 5476 5563 55959 57124 57214 5728 5742 5743 6382 6383 6385 6440 6441 6472 6518 653509 6646 7108 729238 7412 79071 81031 83666 8482 8809 8877 90161 9173 9365 9394	Homo sapiens (human)
DOID:0080139	multiple congenital anomalies-hypotonia-seizures syndrome 2 Aliases: developmental and epileptic encephalopathy 20 early infantile epileptic encephalopathy 20 glycosylphosphatidylinositol biosynthesis defect 4	PIGA	5277	Homo sapiens (human)
DOID:0110403	retinitis pigmentosa 13 Aliases: RP13	PAFAH1B1	5048	Homo sapiens (human)
DOID:12895	keratoconjunctivitis sicca Aliases: KCS	ACE ALPP AMY1A AMY1B AMY1C ATRNL1 CALR CD14 CD44 CHIA CHST3 CNTN2 CYP19A1 CYP1A1 DGKQ DLAT FUCA1 GLO1 HPSE ICAM1 IL18R1 LYZ MBL2 PC PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTEN SELE SEMA7A SOAT1 SPHK1 STS TNF VCAM1 VTCN1	10855 1543 1588 1609 1636 1737 250 2517 26033 27159 2739 276 277 278 3383 4069 412 4153 5091 5290 5291 5293 5294 5563 5728 6401 6646 6900 7124 7412 79679 811 8482 8809 8877 929 9469 960	Homo sapiens (human)
DOID:0111043	glycogen storage disease IXc Aliases: GSD type 9C GSD type IXc GSD9C glycogen storage disease type 9C glycogen storage disease type IXc glycogenosis type 9C glycogenosis type IXc	ACADM AGL ALDOA APRT EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 GAA GBE1 GLA GYG1 GYG2 GYS2 HADHA LDHA MGAM PFKL PFKM PGAM2 PGK1 PGM1 PHKG2 PYGM SI SLC2A2 SLC37A4	178 1962 2027 2203 226 2538 2542 2548 2632 2717 2992 2998 3030 34 353 3939 5211 5213 5224 5230 5236 5261 57818 5837 6476 6514 7957 8908 8972 92579	Homo sapiens (human)
DOID:0110179	Charcot-Marie-Tooth disease type 2B2 Aliases: AR-CMT2B2 ARCMT2B Autosomal recessive axonal CMT4C3 CMT2B2 Charcot-Marie-Tooth disease neuronal type 2B2 Charcot-Marie-Tooth neuropathy type 2B2 autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2	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:3321	GM2 gangliosidosis Aliases: gangliosidosis GM2	GLB1 GM2A HEXA HEXB HEXD OGA UGT8	10724 2720 2760 284004 3073 3074 7368	Homo sapiens (human)
DOID:12157	aseptic meningitis Aliases: acute aseptic meningitis	ACE ENO2 ICAM1 MRC1 TPI1	1636 2026 3383 4360 7167	Homo sapiens (human)
DOID:3357	extraosseous osteosarcoma Aliases: extraskeletal Osteogenic sarcoma extraskeletal osteosarcoma	SMUG1	23583	Homo sapiens (human)
DOID:0110432	dilated cardiomyopathy 1NN Aliases: CMD1NN	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)
DOID:0060170	generalized epilepsy with febrile seizures plus Aliases: GEFS+	ALDH5A1 ME2 NPL	4200 7915 80896	Homo sapiens (human)
DOID:0111068	congenital bile acid synthesis defect 4 Aliases: CBAS4 intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid trihydroxycoprostanic acid in bile	AMACR HSD17B4	23600 3295	Homo sapiens (human)

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