GlyCosmos Portal

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Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3651 - 3675** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:3672	rhabdoid cancer Aliases: Rhabdoid sarcoma malignant rhabdoid tumour	Myc	17869	Mus musculus (house mouse)
DOID:1762	cheilitis	CLEC7A OCRL	4952 64581	Homo sapiens (human)
DOID:14669	acrodysostosis	APRT ENO1	2023 353	Homo sapiens (human)
DOID:1287	cardiovascular system disease Aliases: disease of subdivision of hemolymphoid system	gys1	394155	Danio rerio (zebrafish)
DOID:3969	thyroid gland papillary carcinoma Aliases: Papillary carcinoma of the Thyroid gland	Myc Tp53	24577 24842	Rattus norvegicus (Norway rat)
DOID:2256	osteochondrodysplasia Aliases: Cartilage Development disorder Congenital anomaly of cartilage Osteochondrodysplasia syndrome chondrodystrophy skeletal dysplasia	chst3a chst3b	556800 559721	Danio rerio (zebrafish)
DOID:0050642	hypochromic microcytic anemia	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:3069	malignant astrocytoma Aliases: Astrocytic tumor astrocytoma of Cerebrum astrocytoma of brain astroglioma cerebral astrocytoma	ACHE ACSL5 ADH1A ADH1B ADH1C ADH4 ADH6 AKR1A1 AKR1B1 AKR1C3 AKT1 AKT2 ALOX5 APRT ATRN B3GAT1 BDH2 BRAF BST2 CALR CAT CD248 CD44 CD55 CD74 CHI3L1 CHST15 CNTN2 CS CYP1B1 CYP4F3 ENPP1 EXT1 FCN2 FKTN G6PD GLB1 GOLPH3 HAS2 HJV HMMR HPGDS HPSE ICAM1 IDH1 IDH2 LGALS1 LGALS3 LGALS4 MMP25 MRC1 NEU1 PARP1 PFKFB3 PFKFB4 PGAM1 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G2A PLA2G4A PLB1 PLCB1 PLD1 PLD2 PRNP PRPS1 PTEN PTGDS PTGES PTGS2 RECK RTN4R SDC4 SDHA SGPL1 SLC2A3 SMUG1 SPHK2 ST8SIA2 ST8SIA4 STS TM7SF2 TNKS TYMP VCAM1 VCAN XYLT1	10327 10855 1116 124 125 126 127 130 142 1431 1462 148738 151056 1545 1604 1890 207 208 2131 2218 2220 231 23236 23583 240 2539 27087 2720 27306 3037 3161 3383 3417 3418 353 3956 3958 3960 4051 412 43 4360 4758 51363 5167 51703 5209 5210 5223 5230 5290 5291 5293 5294 5310 5320 5321 5337 5338 5621 5631 56848 56898 57124 5728 5730 5743 6385 6389 64083 64131 64386 65078 6515 673 684 6900 7108 7412 7903 811 8128 8399 8434 8455 847 8644 8658 8879 9536 960 972	Homo sapiens (human)
DOID:1926	Gaucher's disease Aliases: Gaucher disease acid beta-glucosidase deficiency glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis	PyK	42620	Drosophila melanogaster (fruit fly)
DOID:0110173	Charcot-Marie-Tooth disease axonal type 2U Aliases: CMT2U Charcot-Marie-Tooth neuropathy type 2U autosomal dominant Charcot-Marie-Tooth disease type 2U autosomal dominant axonal Charcot-Marie-Tooth disease type 2U	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:0112319	Kanzaki disease Aliases: NAGA deficiency type 2 adult-onset alpha-N-acetylgalactosaminidase deficiency alpha-N-acetylgalactosaminidase deficiency type 2	Naga	315165	Rattus norvegicus (Norway rat)
DOID:0060294	cold-induced sweating syndrome Aliases: Crisponi syndrome Sohar-Crisponi syndrome	CNTFR	1271	Homo sapiens (human)
DOID:0050773	paraganglioma Aliases: chemodectoma glomus body tumor	Slc25a11	67863	Mus musculus (house mouse)
DOID:0050575	D-2-hydroxyglutaric aciduria	IDP1 IDP2 IDP3	850871 851493 855723	Saccharomyces cerevisiae S288C
DOID:7008	protoplasmic astrocytoma Aliases: Protoplasmic Astrocytic tumor	ACHE ACSL5 ADH1A ADH1B ADH1C ADH4 ADH6 AKR1A1 AKR1B1 AKR1C3 ALOX5 APRT ATRN B3GAT1 BDH2 BST2 CALR CAT CD248 CD44 CD55 CD74 CHI3L1 CHST15 CNTN2 CS CYP1B1 CYP4F3 ENPP1 EXT1 FCN2 FKTN G6PD GLB1 GOLPH3 HAS2 HJV HMMR HPGDS HPSE ICAM1 IDH1 IDH2 LGALS3 LGALS4 MMP25 MRC1 NEU1 PARP1 PFKFB3 PFKFB4 PGAM1 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G2A PLA2G4A PLB1 PLCB1 PLD1 PLD2 PRNP PRPS1 PTEN PTGDS PTGES PTGS2 RECK RTN4R SDC4 SDHA SGPL1 SLC2A3 SMUG1 SPHK2 ST8SIA2 ST8SIA4 STS TM7SF2 TNKS TYMP VCAM1 VCAN XYLT1	10327 10855 1116 124 125 126 127 130 142 1431 1462 148738 151056 1545 1604 1890 2131 2218 2220 231 23236 23583 240 2539 27087 2720 27306 3037 3161 3383 3417 3418 353 3958 3960 4051 412 43 4360 4758 51363 5167 51703 5209 5210 5223 5230 5290 5291 5293 5294 5310 5320 5321 5337 5338 5621 5631 56848 56898 57124 5728 5730 5743 6385 6389 64083 64131 64386 65078 6515 684 6900 7108 7412 7903 811 8128 8399 8434 8455 847 8644 8658 8879 9536 960 972	Homo sapiens (human)
DOID:0080573	congenital disorder of glycosylation Ix Aliases: congenital disorder of glycosylation 1x	stt3b.L stt3b.S	100380973 108718938	Xenopus laevis (African clawed frog)
DOID:0050661	vitelliform macular dystrophy Aliases: Best disease Best macular dystrophy juvenile-onset vitelliform macular dystrophy	ALOX12 ALPP ATRNL1 PYGM RGN RPE	239 250 26033 5837 6120 9104	Homo sapiens (human)
DOID:0060745	Doyne honeycomb retinal dystrophy Aliases: DHRD Doyne honeycomb degeneration of retina	RPE	6120	Homo sapiens (human)
DOID:1067	open-angle glaucoma Aliases: Wide-angle glaucoma glaucoma simplex open angle glaucoma pigmentary glaucoma	ABO ACE AKR1B1 ALDH7A1 CD38 CYP1B1 DGKD GMDS GPNMB PLCE1 PMM2 PTGDS PTGS2 TNF	10457 1545 1636 231 2762 28 501 51196 5373 5730 5743 7124 8527 952	Homo sapiens (human)
DOID:14791	Leber congenital amaurosis Aliases: LCA Leber's amaurosis Leber's congenital amaurosis Leber's disease	ADH7 ELOVL4 ENO2 HSD17B6 LPCAT1 PCYT1A PNPLA6	10908 131 2026 5130 6785 79888 8630	Homo sapiens (human)
DOID:0110769	hereditary spastic paraplegia 16 Aliases: SPG16 X-linked spastic paraplegia 16 X-linked spastic paraplegia type 16	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:0070112	Niemann-Pick disease type B	CHIT1 GBA1 ICAM1 SMPD1	1118 2629 3383 6609	Homo sapiens (human)
DOID:11123	Henoch-Schoenlein purpura Aliases: Allergic purpura Autoimmune purpura Henoch-Sch?nlein purpura Henoch-Sch@nlein purpura Henoch-Scholein purpura Henoch-Schonlein Purpura Purpura, autoimmune	ACE B4GALNT1 C1GALT1 CPT1C CYP19A1 CYP2U1 CYP7B1 GBA2 ICAM1 L1CAM MBL2 MGAT5 NAAA PARP1 PLA2G6 PLD3 PNPLA6 SLC33A1	10908 113612 126129 142 1588 1636 23646 2583 27163 3383 3897 4153 4249 56913 57704 8398 9197 9420	Homo sapiens (human)
DOID:0111087	Fanconi anemia complementation group C Aliases: FA3 FACC FANCC Fanconi pancytopenia type 3	GCK	2645	Homo sapiens (human)
DOID:1350	paranasal sinus benign neoplasm Aliases: neoplasm of accessory sinus tumor of Accessory sinus	TP53	7157	Homo sapiens (human)

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