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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 **5226 - 5250** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0110121	Axenfeld-Rieger syndrome type 2 Aliases: RIEG2 Rieger syndrome type 2	SULT1E1	6783	Homo sapiens (human)
DOID:9273	citrullinemia Aliases: ASS deficiency deficiency of citrulline-aspartate ligase	ACOX1 ARSD GGT1 GPD2 SLC25A12 SLC25A13	10165 2678 2820 414 51 8604	Homo sapiens (human)
DOID:4976	elephantiasis	ALG8 GLA GUSB INPPL1 MPI NAGA PIK3CA PMM2 PTEN SLC35D1	23169 2717 2990 3636 4351 4668 5290 5373 5728 79053	Homo sapiens (human)
DOID:2722	acrodermatitis	ACE AGA AGXT AKR1C3 ALDH3A2 ALDH7A1 ALOX5 APRT ARSH ASGR1 CALR CAT CD109 CD44 CD74 CERS3 CHI3L1 CLEC10A COL9A2 COMT ELOVL1 ELOVL6 FDFT1 HPGDS HPSE ICAM1 IL1R1 IL1RL2 LGALS3 LGALS9 MBL2 MRC1 NAAA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G4A PLAUR PLCB3 POFUT1 PTGDS PTGS2 SDC1 SLC17A5 SOAT1 VCAM1	10462 10855 1116 1298 1312 135228 142 1636 175 189 204219 2222 224 23509 240 26503 27163 27306 3383 347527 353 3554 3958 3965 4153 432 4360 501 5290 5291 5293 5294 5319 5321 5329 5331 5730 5743 6382 64834 6646 7412 79071 811 847 8644 8808 960 972	Homo sapiens (human)
DOID:4769	pleuropulmonary blastoma	NCAM1	4684	Homo sapiens (human)
DOID:2975	cystic kidney disease Aliases: renal Cyst	ALG8 ALG9 ARF4 CEL FH GPC3 HSD17B1 HSD17B4 INPP5E PIGT PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PMM2 POMT2 PRKCSH PTEN UGCG UMOD	1056 2271 2719 29954 3292 3295 378 51604 5290 5291 5293 5294 5310 5311 5373 5589 56623 5728 7357 7369 79053 79796	Homo sapiens (human)
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)
DOID:8628	Hodgkin's lymphoma, lymphocytic depletion Aliases: Hodgkin lymphoma, lymphocyte depletion Hodgkin's disease, lymphocytic depletion Hodgkin's lymphocytic depletion of unspecified site Lymphocyte-Depleted Classical Hodgkin Lymphoma	ACE ACSBG1 ALG1 ALOX15 ALOX5 ANXA5 B3GAT1 CALR CD14 CD38 CD44 CDH13 CHI3L1 CLEC16A CYP2C9 CYP3A4 ENPP2 FCER2 FCGR3B FUT4 GAPDH GLO1 HABP4 HEXA HJV HPGDS HPSE ICAM1 ISYNA1 KDSR KL KLRK1 LGALS1 LGALS3 LGALS9 LIPC LPL LY6G6D LY75 MBL2 MICA MRC1 MUTYH NAAA NAMPT NCAM1 OGG1 OPCML PAFAH1B1 PC PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 RENBP SCD SDC1 SELL SIGLEC7 SIRT6 SMUG1 SOAT1 SPHK1 STS TM7SF2 UGT1A1	100507436 1012 10135 10855 1116 148738 1559 1576 1636 2208 2215 22914 22927 23205 23274 23583 240 246 2526 2531 2597 27036 27087 27163 27306 2739 3073 308 3383 3956 3958 3965 3990 4023 4065 412 4153 4360 4595 4684 4968 4978 5048 5091 51477 51548 5168 5290 5291 5293 5294 54658 56052 5728 5743 58530 5973 6319 6382 6402 6646 7108 811 8877 929 9365 952 960	Homo sapiens (human)
DOID:7305	astroblastoma	CD44 IDH1 PIK3CA PTEN	3417 5290 5728 960	Homo sapiens (human)
DOID:4151	skull base chordoma Aliases: Chordoma of the Skull Base	LGALS3 LGALS9 PIK3CA PIK3CB PIK3CD PIK3CG	3958 3965 5290 5291 5293 5294	Homo sapiens (human)
DOID:0110344	osteogenesis imperfecta type 5 Aliases: OI5 osteogenesis imperfecta type V	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0050766	choreaacanthocytosis Aliases: Levine-Critchley syndrome choreo-acanthocytosis	EFNA5 GPLD1 HADHA HADHB HSD11B1 HSPG2 IL18R1 LCAT LGALS1 LPL PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLA2G7 ST8SIA4	1946 2822 3030 3032 3290 3339 3931 3956 4023 5286 5290 5291 5293 5294 5320 7903 7941 8399 8809	Homo sapiens (human)
DOID:13121	deficiency anemia Aliases: deficiency anemias	ACO1 CACNA2D3 CAT CD55 IDUA LALBA PLA2G4A PLA2G6	1604 3425 3906 48 5321 55799 8398 847	Homo sapiens (human)
DOID:0112022	non-syndromic X-linked intellectual disability 21 Aliases: MRX21 MRX34 X-linked mental retardation 21 X-linked mental retardation 21/34 X-linked mental retardation 34	IL1RAPL1	11141	Homo sapiens (human)
DOID:4418	cutaneous fibrous histiocytoma Aliases: Pleomorphic fibroma Sclerosing angioma Sclerosing angioma of skin benign Cutaneous fibrous Histiocytoma dermatofibroma fibrohistiocytic tumor fibrous histiocytoma of skin fibrous xanthoma of skin	AMACR CD44 CYP24A1 G6PD GALK1 GLB1 GPC3 HPSE ICAM1 KLRK1 LGALS3 LGALS9 MTAP NSDHL PARP1 PIK3CA PKD1 PKM PLA2G6 PLCB4 PTEN PTGS2 RECK SDHB SDHC SDHD SIRT6 SMUG1 STS VCAN	10855 142 1462 1591 22914 23583 23600 2539 2584 2719 2720 3383 3958 3965 412 4507 50814 51548 5290 5310 5315 5332 5728 5743 6390 6391 6392 8398 8434 960	Homo sapiens (human)
DOID:0050866	oral squamous cell carcinoma Aliases: mouth squamous cell carcinoma	BST2 CALR CYP1A1 CYP24A1 CYP2E1 GAPDH GSK3B PLCG1 PTEN PTGIS TNF TP53	1543 1571 1591 2597 2932 5335 5728 5740 684 7124 7157 811	Homo sapiens (human)
DOID:0110406	retinitis pigmentosa 30 Aliases: RP30	ELOVL4 GPX3 RPE	2878 6120 6785	Homo sapiens (human)
DOID:3803	Crigler-Najjar syndrome Aliases: Bilirubin UDP glucuronyl transferase deficiency Crigler Najjar syndrome Crigler-Najjar syndrome, type I	SLC35A2 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 7355	Homo sapiens (human)
DOID:5264	epithelioid leiomyosarcoma	ACSL4 DHCR24 DPEP1 FASN FCGR3B FH GGT1 HMMR IL1R1 MRC1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PTEN PTGS2 SLC33A1 SMUG1 VCAN	142 1462 1718 1800 2182 2194 2215 2271 23583 2678 3161 3554 4360 5290 5291 5293 5294 57104 5728 5743 9197	Homo sapiens (human)
DOID:9809	hypersensitivity vasculitis	ABO ACE B3GAT1 B4GALNT1 C1GALT1 CPT1C CYP19A1 CYP2U1 CYP7B1 FCGR3B GBA2 ICAM1 L1CAM MBL2 MGAT5 NAAA PARP1 PLA2G6 PLD3 PNPLA6 SLC33A1	10908 113612 126129 142 1588 1636 2215 23646 2583 27087 27163 28 3383 3897 4153 4249 56913 57704 8398 9197 9420	Homo sapiens (human)
DOID:0060833	Griscelli syndrome type 2 Aliases: GS2 Griscelli syndrome with hemophagocytic syndrome Griscelli-Prunieras syndrome type 2 PAID syndrome hypopigmentation-immunodeficiency with or without neurologic impairment syndrome partial albinism and immunodeficiency syndrome	GLUL IDS	2752 3423	Homo sapiens (human)
DOID:4959	epidermolysis bullosa dystrophica Aliases: Dystrophic epidermolysis bullosa	CAT CD44 DCN PIK3CA PIK3CB PIK3CD PIK3CG STS	1634 412 5290 5291 5293 5294 847 960	Homo sapiens (human)
DOID:3138	acanthosis nigricans Aliases: keratosis nigricans	AGPAT2 CYP19A1 ELOVL1 PNPLA2 SLC2A3	10555 1588 57104 64834 6515	Homo sapiens (human)
DOID:0110810	hereditary spastic paraplegia 5A Aliases: SPG5A autosomal recessive spastic paraplegia 5A autosomal recessive spastic paraplegia type 5A	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:2021	placenta cancer Aliases: Placental tumors malignant Placental tumor malignant neoplasm of placenta neoplasm of placenta placental cancer primary malignant neoplasm of placenta	ABO AKR1C3 ALPI ALPP ANXA5 APRT ATRNL1 CAT CD1D CD44 CHST3 CYP11A1 CYP19A1 CYP1B1 CYP4F3 DHRS11 DLD EBP ENPP3 HMMR HPRT1 HPSE HSD11B2 HSD17B1 HSD17B7 HSD3B1 IL1R1 KLRC1 LGALS1 MCAT MRC1 OLR1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PTEN SDC1 SDHC SLC2A3 VCAN	10682 10855 1462 1545 1583 1588 1738 248 250 26033 27349 28 308 3161 3251 3283 3291 3292 353 3554 3821 3956 4051 4360 4973 51478 5169 5290 5291 5293 5294 5315 5728 6382 6391 6515 79154 847 8644 912 9469 960	Homo sapiens (human)

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