GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4026 - 4050** of **15957** in total

« First

‹ Prev

…

158

159

160

161

162

163

164

165

166

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0111902	thrombophilia due to activated protein C resistance Aliases: APC resistance PCCF deficiency PROC cofactor deficiency THPH2 activated protein C resistance thrombophilia V thrombophilia due to deficiency of activated protein C cofactor	F5 PROC	2153 5624	Homo sapiens (human)	Alliance of Genome Resources
DOID:14452	hypokalemic periodic paralysis Aliases: Hypokalemic familial periodic paralysis Periodic paralysis I Westphal disease familial hypokalemic periodic paralysis periodic hypokalemic paralysis	CACNA1S KCNE3 SCN4A SCNN1B SCNN1D SCNN1G TUBB4A TUBB4B TUBB	10008 10382 10383 203068 6329 6338 6339 6340 779	Homo sapiens (human)	Alliance of Genome Resources
DOID:526	human immunodeficiency virus infectious disease Aliases: HIV infection	ABCB1 ABCE1 ATM C3 CCL11 CCL2 CCL5 CCR2 CCR5 CD163 CD209 CD274 CD40 CD40LG CD68 CR2 CXCR1 CYP2B6 EPHB2 FAS FCGR3A GC HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRA HLA-DRB1 IFNG IL10 IL15 IL21 IL21R IL6 KIR3DL1 KIR3DS1 KMT2E LEPR MBL2 MKI67 NEFL NEFM OPRM1 PDCD1 PLA2G2A PLAUR PPIA PRF1 PTGS2 SELP SERPINA1 SOCS3 STING1 TLR3 TNF TREM1	1234 1380 1555 2048 2214 2638 29126 30835 3106 3107 3117 3119 3122 3123 340061 3458 355 3569 3577 3586 3600 3811 3813 3953 4153 4288 472 4741 4747 4988 50615 5133 5243 5265 5320 5329 54210 5478 5551 55904 5743 59067 6059 6347 6352 6356 6403 7098 7124 718 729230 9021 9332 958 959 968	Homo sapiens (human)	Alliance of Genome Resources
DOID:1849	cannabis dependence	ABCB1 ACHE COMT NRG1	1312 3084 43 5243	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111503	Li-Fraumeni syndrome 1 Aliases: LFS1	TP53	7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111943	immunodeficiency 48 Aliases: IMD48 combined immunodeficiency due to ZAP70 deficiency zeta-associated-protein 70 deficiency	ZAP70	7535	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110545	autosomal dominant nonsyndromic deafness 13 Aliases: DFNA13 autosomal dominant deafness 13	COL11A2	1302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111981	immunodeficiency 43 Aliases: B2M deficiency IMD43 beta-2-microglobulin deficiency hypercatabolic hypoproteinemia	B2M	567	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080733	Ehlers-Danlos syndrome dermatosparaxis type	ADAMTS2	9509	Homo sapiens (human)	Alliance of Genome Resources
DOID:13241	Behcet's disease Aliases: Adamantiades-Behcet disease Behcet syndrome Behet's syndrome triple symptom complex	ABCB1 ACE ADIPOQ CAT CCL2 CCR5 CD40LG CFB CPB2 CTLA4 CYP1A1 DHCR7 EDN1 F5 FAS FCGR3A HLA-B HLA-DMA HLA-DMB HLA-DQB1 HLA-DRB1 ICAM1 IFNG IL10 IL17A IL1RN IL21R IL23R IL2 IL4 IL6 ITGA2 ITGAM MBL2 MMP2 MMP9 NOD2 NOS3 PON1 PROZ SERPINE1 SLC11A1 SOD1 STAT3 STAT4 TGFB1 TLR2 TLR3 TLR4 TNF TNFRSF1A VEGFA VIM VWF	1234 1361 149233 1493 1543 1636 1717 1906 2153 2214 3106 3108 3109 3119 3123 3383 3458 355 3557 3558 3565 3569 3586 3605 3673 3684 4153 4313 4318 4846 5054 50615 5243 5444 629 6347 64127 6556 6647 6774 6775 7040 7097 7098 7099 7124 7132 7422 7431 7450 847 8858 9370 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:5339	cyclic hematopoiesis Aliases: Cyclic neutropenia Cyclical neutropenia Neutropenia, periodic cyclic agranulocytosis	ELANE	1991	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110629	Wolfram syndrome 1 Aliases: DIDMOAD WFS1 diabetes mellitus AND insipidus with optic atrophy AND deafness	WFS1	7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111421	familial apolipoprotein A5 deficiency Aliases: familial APOA5 deficiency familial apolipoprotein A-V deficiency	APOA5	116519	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060244	specific language impairment	CNTNAP2	26047	Homo sapiens (human)	Alliance of Genome Resources
DOID:3717	gastric adenocarcinoma Aliases: adenocarcinoma of stomach stomach adenocarcinoma	ABCA13 ALX4 AMIGO2 APOC3 ARID1A CAT CD44 CDK12 GPX1 HLA-DQA1 HNRNPA0 IL6 KMT2D MAP2K4 MAPK14 PLCE1 POLE PTPN13 PTPRA PTPRZ1 RAC1 RNASET2 RNF43 SLC7A5 STAT1 STAT5A STAT5B STAT6 TP53 UBR5 XPO1	10949 1432 154664 2876 3117 345 347902 3569 51196 51366 51755 5426 54894 5783 5786 5803 5879 60529 6416 6772 6776 6777 6778 7157 7514 8085 8140 8289 847 8635 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:11342	arcus senilis Aliases: Arcus of cornea corneal arcus	KERA	11081	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050681	Borjeson-Forssman-Lehmann syndrome Aliases: BFLS BORJ Borjeson syndrome MRXSBFL intellectual deficiency-epilepsy-endocrine disorders syndrome mental retardation, epilepsy, and endocrine disorder syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type	PHF6	84295	Homo sapiens (human)	Alliance of Genome Resources
DOID:13832	patent ductus arteriosus Aliases: Patent ductus Botalli	ACTA1 ACTA2 ACTB ACTBL2 ACTC1 ACTG1 MYH11 PTGIS TFAP2B	345651 4629 5740 58 59 60 70 7021 71	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060565	Ritscher-Schinzel syndrome Aliases: CCC dysplasia craniocerebellocardiac dysplasia	VPS35L	57020	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080345	blepharocheilodontic syndrome 1	CDH1	999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070097	oculocutaneous albinism type III Aliases: OCA3 Rufous Oculocutaneous Albinism	TYRP1	7306	Homo sapiens (human)	Alliance of Genome Resources
DOID:14768	Saethre-Chotzen syndrome	FGFR2 TWIST1 TWIST2	117581 2263 7291	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080913	cerebrooculofacioskeletal syndrome 3	ERCC5	2073	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110243	cataract 46 juvenile-onset Aliases: CTRCT46 juvenilae cataract Hutterite type	LEMD2 LEMD3	221496 23592	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110212	Charcot-Marie-Tooth disease X-linked recessive 4 Aliases: CMT4X CMTX4 Charcot-Marie-Tooth disease with deafness and mental retardation Cowchock syndrome NADMR NAMSD X-linked Charcot-Marie-Tooth disease type 4 axonal motor sensory neuropathy with deafness and mental retardation	AIFM1	9131	Homo sapiens (human)	Alliance of Genome Resources

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements