GlyCosmos Portal

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

Displaying entries **2001 - 2025** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:1116	pertussis Aliases: WC - Whooping cough bordetella infection whooping cough	ACOT7 PIK3CG UMOD	11332 5294 7369	Homo sapiens (human)	DisGeNET
DOID:2365	West Nile encephalitis Aliases: West Nile Fever with encephalitis West Nile fever encephalitis	NAMPT PIK3CA PIK3CB PIK3CD	10135 5290 5291 5293	Homo sapiens (human)	DisGeNET
DOID:2366	West Nile fever	ABO CD14 CD48 GAD2 GBA1 GBA3 MBL2 NAMPT PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLB1 PLCE1 PSMD10 TMED5	10135 151056 2572 2629 28 4153 50999 51196 5290 5291 5293 5294 5319 5716 57733 929 962	Homo sapiens (human)	DisGeNET DisGeNET
DOID:2384	Wernicke encephalopathy Aliases: Wernicke's disease Wernicke's encephalopathy	PTGS2 SMUG1 TKT	23583 5743 7086	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:13137	Werdnig-Hoffmann disease Aliases: HMN (Hereditary motor Neuropathy) Proximal type I SMA1 Spinal muscular atrophy 1 hereditary motor neuropathy proximal type I infantile muscular atrophy progressive muscular atrophy of infancy	APRT HEXA HSPG2	3073 3339 353	Homo sapiens (human)	DisGeNET DisGeNET
DOID:12376	juvenile spinal muscular atrophy Aliases: Kugelberg-Welander disease SMA3 Spinal Muscular Atrophy Type 3 Type III Spinal Muscular Atrophy	APRT HEXA HSPG2	3073 3339 353	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060160	childhood spinal muscular atrophy Aliases: spinal muscular atrophies of childhood survival motor neuron spinal muscular atrophy	APRT HEXA HSPG2	3073 3339 353	Homo sapiens (human)	DisGeNET DisGeNET
DOID:1245	vulva cancer Aliases: Ca vulva Vulvar tumor malignant Vulvar tumor malignant neoplasm of vulva malignant tumor of vulva neoplasm of vulva vulval cancer vulval neoplasm vulvar neoplasm	ABO AKT1 PTEN PTGS2 SMUG1	207 23583 28 5728 5743	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060692	platelet-type bleeding disorder 8 Aliases: ADP platelet receptor P2Y12 defect P2Y12 defect	ABO ATP6V0A2 CANX PDIA3	23545 28 2923 821	Homo sapiens (human)	DisGeNET
DOID:0111057	platelet-type bleeding disorder 11 Aliases: BDPLT11 GP VI deficiency glycoprotein VI deficiency	ABO ATP6V0A2 CANX PDIA3	23545 28 2923 821	Homo sapiens (human)	DisGeNET
DOID:0111045	platelet-type bleeding disorder 9 Aliases: BDPLT9 GP Ia deficiency collagen platelet receptor deficiency glycoprotein Ia deficiency	ABO ATP6V0A2 CANX PDIA3	23545 28 2923 821	Homo sapiens (human)	DisGeNET
DOID:0111056	platelet-type bleeding disorder 3 Aliases: BDPLT3 PT-VWD platelet type-von Willebrand disease pseudo-von Willebrand disease von Willebrand disease platelet-type	ABO ATP6V0A2 CANX GPI PDIA3	23545 28 2821 2923 821	Homo sapiens (human)	DisGeNET DisGeNET
DOID:12531	von Willebrand's disease Aliases: vascular hemophilia vascular pseudohemophilia von Willebrand disease von Willebrand disorder von Willebrand's-Jurgens' disease von Willebrand-Jrgens disease	ABO ACADVL ATP6V0A2 BAAT CANX GPI HADHA HPSE OTOA PDIA3 SACM1L SELP	10855 146183 22908 23545 28 2821 2923 3030 37 570 6403 821	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:8445	intestinal volvulus Aliases: Twist of intestine, bowel, or colon Volvulus familial intestinal malrotation volvulus of midgut	ENO1 HK1 HPGDS PIGQ SMC3	2023 27306 3098 9091 9126	Homo sapiens (human)	DisGeNET
DOID:12306	vitiligo	ABO ACE ACHE ALOX12 C1GALT1C1 CALR3 CALR CANX CAT CBR1 CD44 COMT CYP21A2 FADS1 FADS2 G6PD GPX1 HPGDS ICAM1 IL1RAPL1 ISYNA1 KLRC1 MBL2 NEU1 PARP12 PARP1 PGD PGP PIK3CA PIK3CB PIK3CD PIK3CG PLCB3 PLCG2 PRNP PTGS2 SOAT1 TLR2 TLR4 TNF	11141 125972 1312 142 1589 1636 239 2539 27306 28 283871 2876 29071 3383 3821 3992 4153 43 4758 51477 5226 5290 5291 5293 5294 5331 5336 5621 5743 64761 6646 7097 7099 7124 811 821 847 873 9415 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:11249	vitamin K deficiency bleeding Aliases: deficiency of vitamin K vitamin K deficiency vitamin K deficiency hemorrhagic disease	CYP2C9 GLA LMAN1 MCFD2 PC	1559 2717 3998 5091 90411	Homo sapiens (human)	DisGeNET
DOID:8454	riboflavin deficiency Aliases: ariboflavinosis vitamin B2 deficiency	AGXT	189	Homo sapiens (human)	DisGeNET
DOID:1432	blindness Aliases: vision impairment vision loss visual impairment	ALG13 ALG2 AMACR ARSG B3GALNT2 B3GLCT B4GAT1 CA4 CACNA2D4 CD109 CLC CLN5 CYP1B1 CYP2U1 DHDDS EFNA5 ELOVL4 ENPP1 EPHX2 EPM2A FASN FH FKRP FKTN GALC GM2A GMPPA GMPPB GPAA1 HADHA HEXA HEXB HGSNAT HK1 HS6ST1 HSD17B4 HSPG2 IDH3A IDH3B IDUA INPP5E LARGE1 LCAT LSS MASP1 MECR MPDU1 MPI OCRL PCYT1A PGK1 PIGT PLA2G6 PMM2 PNPLA6 PNPLA7 POMGNT1 POMK POMT1 POMT2 PPT1 PRNP PRPS1 RFT1 RPE SDHA SDHB SDHD SMUG1 SRD5A3 ST3GAL5 SUCLA2 SUMF1 SYNJ1 VCAN XYLT2	10585 10908 11041 113612 1178 1203 135228 138050 145173 1462 148789 1545 1946 2053 2194 2218 2271 22901 23583 23600 2581 2760 285362 29925 29926 29954 3030 3073 3074 3098 3295 3339 3419 3420 3425 375775 3931 4047 4351 4952 51102 5130 51604 5167 5230 5373 5538 55624 5621 5631 5648 56623 6120 6389 6390 6392 64132 6785 762 79147 7957 79644 79868 79947 8398 84197 85365 8733 8803 8867 8869 91869 9215 93589 9394 9526	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:9620	vesicoureteral reflux Aliases: vesico-ureteral reflux	ACE COMT EXT1 GFRA1 HPSE2 PIGN PIGQ SDHA SDHB SLC33A1 SLC3A1 SMC3	1312 1636 2131 23556 2674 60495 6389 6390 6519 9091 9126 9197	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:2479	central nervous system origin vertigo Aliases: Vertigo of central origin central vestibular vertigo	ACHE COMT CYP3A5 FKRP GCDH GLA GYG1 NAGA NT5E SGSH	1312 1577 2639 2717 2992 43 4668 4907 6448 79147	Homo sapiens (human)	DisGeNET
DOID:0060679	catecholaminergic polymorphic ventricular tachycardia 5 Aliases: CVPT5	ACADVL ACE CALR CHPT1 FKRP FUT1 GOLPH3 GYG1 PTGS2 SCD	1636 2523 2992 37 56994 5743 6319 64083 79147 811	Homo sapiens (human)	DisGeNET
DOID:0060678	catecholaminergic polymorphic ventricular tachycardia 4 Aliases: CVPT4	ACADVL ACE CALR CHPT1 FKRP FUT1 GOLPH3 GYG1 PTGS2 SCD	1636 2523 2992 37 56994 5743 6319 64083 79147 811	Homo sapiens (human)	DisGeNET
DOID:0060677	catecholaminergic polymorphic ventricular tachycardia 3 Aliases: CVPT3	ACADVL ACE CALR CHPT1 FKRP FUT1 GOLPH3 GYG1 PTGS2 SCD	1636 2523 2992 37 56994 5743 6319 64083 79147 811	Homo sapiens (human)	DisGeNET
DOID:0060676	catecholaminergic polymorphic ventricular tachycardia 2 Aliases: CVPT2	ACADVL ACE CALR CHPT1 FKRP FUT1 GOLPH3 GYG1 PTGS2 SCD	1636 2523 2992 37 56994 5743 6319 64083 79147 811	Homo sapiens (human)	DisGeNET
DOID:0060674	catecholaminergic polymorphic ventricular tachycardia	ACADVL ACE CALR CHPT1 CNTN3 FKRP FUT1 GOLPH3 GYG1 PTGS2 SCD THEM5	1636 2523 284486 2992 37 5067 56994 5743 6319 64083 79147 811	Homo sapiens (human)	DisGeNET DisGeNET

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