GlyCosmos Portal

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Displaying entries **76 - 100** of **4621** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0050508	variola major	ABO CDS1 CYB5R3 FCN2 IL18R1	1040 1727 2220 28 8809	Homo sapiens (human)
DOID:0050523	adult T-cell leukemia/lymphoma Aliases: Adult T-cell leukemia/lymphoma (HTLV-1 positive) adult T-cell leukemia	APRT CAT CD38 CD44 CNTN2 CYP1A1 ENO2 FCGR3B FUT4 ICAM1 LCT LGALS1 LGALS3 LGALS9 MRC1 MTAP NAMPT NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PSMD10 PTEN RENBP SACM1L SELL SOAT1 TIGAR TMED5 TMED9 VCAM1	10135 1543 2026 2215 22908 2526 3383 353 3938 3956 3958 3965 4360 4507 4684 50999 5290 5291 5293 5294 5335 54732 57103 5716 5728 5973 6402 6646 6900 7412 847 952 960	Homo sapiens (human)
DOID:0050524	maturity-onset diabetes of the young Aliases: MODY Mason-type diabetes	APRT CEL CYB5R4 FBP1 FOLR2 GAD1 GCK GGT1 GPD1 HK1 HK2 HK3 HKDC1 IL18R1 INS PCK1 PDHX PDX1 PLCG1 PPP1R3B SACM1L SLC2A2	1056 2203 22908 2350 2571 2645 2678 2819 3098 3099 3101 353 3630 3651 5105 51167 5335 6514 79660 80201 8050 8809	Homo sapiens (human)
DOID:0050526	Gamstorp-Wohlfart syndrome Aliases: autosomal recessive neuromyotonia and axonal neuropathy myokymia, myotonia and muscle wasting	ACHE CNTN2 PIK3C2A	43 5286 6900	Homo sapiens (human)
DOID:0050527	obsolete familial hypertriglyceridemia	LPL	4023	Homo sapiens (human)
DOID:0050534	congenital stationary night blindness Aliases: congenital essential nyctalopia	ARSG CA4 CACNA2D4 COG4 ELOVL4 HADHA HGSNAT HK1 HSD3B7 NYX PCYT1A POMGNT1	138050 22901 25839 3030 3098 5130 55624 60506 6785 762 80270 93589	Homo sapiens (human)
DOID:0050535	exudative vitreoretinopathy Aliases: FEVR familial exudative vitreoretinopathy	ACE AKR1A1 CAT EPHX2 FCN2 HPSE ICAM1 LGALS1 LRP5 MCAT PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PNPLA2 PSMD10 SORD TM7SF2 TMED5	10327 10855 1636 2053 2220 27349 3383 3956 4041 50999 5290 5291 5293 5294 57104 5716 6652 7108 7941 847	Homo sapiens (human)
DOID:0050536	obsolete SC phocomelia syndrome Aliases: Hypomelia Hypotrichosis Facial hemangioma syndrome SC PSEUDOTHALIDOMIDE SYNDROME	MELTF SMC3	4241 9126	Homo sapiens (human)
DOID:0050539	Charcot-Marie-Tooth disease type 2 Aliases: hereditary motor and sensory neuropathy Guadalajara neuronal type hereditary motor and sensory neuropathy Okinawa type hereditary motor and sensory neuropathy type 2	ACE AMACR ARSA CANX CD44 DGAT2 FIG4 GBA1 HADHB HK1 LCAT MAG MTM1 MTMR2 PGK1 PGM1 PRNP PRPS1 SIGLEC7 SPTLC1 SPTLC2	10558 1636 23600 2629 27036 3032 3098 3931 4099 410 4534 5230 5236 5621 5631 821 84649 8898 9517 960 9896	Homo sapiens (human)
DOID:0050540	Charcot-Marie-Tooth disease type 3 Aliases: DEJERINE-SOTTAS NEUROPATHY DEJERINE-SOTTAS SYNDROME	AMACR CAT CYP4F3 FIG4 GPX2 HPSE LPIN1 MTMR2 PLCB4 PLCE1 PTGS2	10855 23175 23600 2877 4051 51196 5332 5743 847 8898 9896	Homo sapiens (human)
DOID:0050541	Charcot-Marie-Tooth disease type 4 Aliases: hereditary motor and sensory neuropathy	FIG4 MAG MTM1 MTMR2	4099 4534 8898 9896	Homo sapiens (human)
DOID:0050542	Charcot-Marie-Tooth disease type X	PRPS1	5631	Homo sapiens (human)
DOID:0050545	visceral heterotaxy Aliases: heterotaxia situs ambiguus	CERS1 CFC1 PHKA2	10715 5256 55997	Homo sapiens (human)
DOID:0050546	congenital adrenal insufficiency Aliases: ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE Adrenal insufficiency, congenital, with 46,XY sex reversal P450scc DEFICIENCY	CYP11A1	1583	Homo sapiens (human)
DOID:0050547	familial medullary thyroid carcinoma Aliases: THYROID CARCINOMA, FAMILIAL MEDULLARY	CEACAM5 FUT4 MCAT NTM	1048 2526 27349 50863	Homo sapiens (human)
DOID:0050548	hereditary sensory neuropathy Aliases: familial dysautonomia, type II hereditary sensory and autonomic neuropathy	AGXT CYP4F3 GAS1 PKLR SPTLC1 SPTLC2	10558 189 2619 4051 5313 9517	Homo sapiens (human)
DOID:0050557	congenital muscular dystrophy	ACE ACHE AGK AGL APRT B3GALNT2 B4GALNT2 B4GAT1 CHKA CHKB COL6A1 CRPPA DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GK GLB1 GMPPB HPGDS IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 RXYLT1 SDC2 SI SYNJ1 SYNJ2	10329 10585 11041 1119 1120 120071 124872 1291 142 148789 1605 1634 1636 178 1800 2023 2218 2710 2720 27306 29925 29954 3418 353 3612 3633 3958 4153 43 51763 5286 5373 54344 5553 55624 55750 56983 6383 6476 729920 79147 84197 84892 8813 8818 8867 8871 8972 9215	Homo sapiens (human)
DOID:0050558	Ullrich congenital muscular dystrophy Aliases: ULLRICH DISEASE Ullrich scleroatonic muscular dystrophy	COL6A1 CSPG4	1291 1464	Homo sapiens (human)
DOID:0050559	Fukuyama congenital muscular dystrophy	B3GALNT2 B4GAT1 CD109 CRPPA DAG1 FKRP FKTN GMPPB LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1	10329 10585 11041 135228 148789 1605 2218 29925 29954 55624 729920 79147 84197 84892 9215	Homo sapiens (human)
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	ALG1 B3GALNT2 B3GNT2 B4GAT1 CRPPA DAG1 FKRP FKTN GMPPB LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1	10329 10585 10678 11041 148789 1605 2218 29925 29954 55624 56052 729920 79147 84197 84892 9215	Homo sapiens (human)
DOID:0050561	Lennox-Gastaut syndrome Aliases: Lennox syndrome	ABAT CYP46A1 DGKD EXT1	10858 18 2131 8527	Homo sapiens (human)
DOID:0050562	West syndrome	ABAT ALG13 CACNA2D1 HIBCH HSD17B4 NGLY1 PAFAH1B1 PDHA1 PIGA PIGP PIGQ PIGW PLCB1 PMM2 RFT1 SLC35A2 ST3GAL3	18 23236 26275 284098 3295 5048 51227 5160 5277 5373 55768 6487 7355 781 79868 9091 91869	Homo sapiens (human)
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	ALG10 ALG10B LRP5	144245 4041 84920	Homo sapiens (human)
DOID:0050564	autosomal dominant nonsyndromic deafness Aliases: autosomal dominant deafness	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PI4KB PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5298 5660 7007	Homo sapiens (human)
DOID:0050565	autosomal recessive nonsyndromic deafness	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA TMTC4	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007 84899	Homo sapiens (human)

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