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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 **7651 - 7675** of **7942** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:8515	Cor pulmonale Aliases: cardiopulmonary disease pulmonary heart disease	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:12028	Conn's syndrome Aliases: Conn syndrome primary aldosteronism	ATP6AP2 CD44 CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 CYP4F3 G6PD HSD11B2 HSD3B1 HSD3B2 LGALS3 OCRL PRSS8 PTGS2 SLC26A2 SLC33A1 SLC5A1	10159 1583 1584 1585 1586 1589 1836 2539 3283 3284 3291 3958 4051 4952 5652 5743 6523 9197 9469 960	Homo sapiens (human)
DOID:0080101	Compton-North congenital myopathy Aliases: congenital myopathy 12	CNTN1	1272	Homo sapiens (human)
DOID:0060216	Cogan syndrome Aliases: Cogan's syndrome diffuse interstitual keratitis	ALDH3A2 DLAT GBA1 GPAA1 INPP5E NGLY1 PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY	1737 224 2629 27315 284098 55650 55768 56623 84720 84992 8733 93210 9487	Homo sapiens (human)
DOID:1925	Coffin-Siris syndrome Aliases: Dwarfism-Onychodysplasia Fifth Digit Syndrome Short Stature-Onychodysplasia.	CD14 CMAS SDHB SDHC SDHD SORD TNFRSF10C	55907 6390 6391 6392 6652 8794 929	Homo sapiens (human)
DOID:0070042	Coffin-Siris syndrome 1 Aliases: CSS1 MRD12 autosomal dominant mental retardation 12 fifth digit syndrome	CD14 CMAS SDHB SDHC SDHD SORD TNFRSF10C	55907 6390 6391 6392 6652 8794 929	Homo sapiens (human)
DOID:3783	Coffin-Lowry syndrome	CRLS1 HSD17B6 IL1RAPL1 PDHA1	11141 5160 54675 8630	Homo sapiens (human)
DOID:2962	Cockayne syndrome Aliases: Neill-Dingwall syndrome	ACADS AKR1B1 ALDH2 AMT ANXA5 ARSA ARSD B4GALT7 BAAT CAT CD38 CHPT1 COMT CYP11A1 CYP3A5 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 OLR1 PARP1 PCYT1A PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PKM PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 1312 142 1577 1583 1605 1634 217 231 2348 2597 2653 2720 2731 275 2821 308 3339 35 410 412 414 4968 4973 5130 5224 5290 5291 5293 5294 5315 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365 952	Homo sapiens (human)
DOID:14693	Clouston syndrome Aliases: Clouston's hidrotic ectodermal dysplasia Clouston's syndrome Hidrotic ectodermal dysplasia syndrome ectodermal dysplasia 2, Clouston type hidrotic ectodermal dysplasia	ACACA ACACB ACADVL ACOT7 ALOX15B ARSA B3GAT1 CD14 CD38 CD44 CTBS CYP11B1 CYP17A1 CYP19A1 DGKZ DHCR24 EOGT GAA GUSB HSD17B4 IGF2R MRC1 NAGA NAGLU PCYT1B PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTEN PTGS2 SDHB SIRT6 SMUG1 SOAT1 SORD SPHK1 VCAN	11332 1462 1486 1584 1586 1588 1718 23583 247 2548 27087 285203 2990 31 32 3295 3482 37 410 4360 4668 4669 51548 5290 5291 5293 5294 5563 5728 5743 6390 6646 6652 8525 8877 929 9468 952 960	Homo sapiens (human)
DOID:0060185	Clostridium difficile colitis Aliases: Pseudomembranous colitis	ABO ACACB ACE ACHE ACSBG1 AGA AKR1B1 ARSA CAT CD14 CEACAM6 CHGA COMT CYP2B6 CYP4F3 FCN1 GLB1 GLUL GM2A HSD11B1 HSD11B2 ICAM1 IL18R1 KLB LCT MBL2 NCAM1 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PTGS2 SELE SELL SFTPC SI SLC26A2	1113 1312 152831 1555 1636 175 1836 2219 231 23205 2720 2752 2760 28 2923 32 3290 3291 3383 3938 4051 410 4153 43 4680 4684 5290 5291 5293 5294 5315 5743 6401 6402 6440 6476 847 8809 929	Homo sapiens (human)
DOID:3049	Churg-Strauss syndrome Aliases: Allergic Granulomatous Angiitis Allergic granulomatosis angiitis Churg-Strauss vasculitis	CMAS GFRA1 TNFRSF10C VCAM1	2674 55907 7412 8794	Homo sapiens (human)
DOID:2935	Chediak-Higashi syndrome Aliases: CHS Chediak - Steinbrinck anomaly	ABO ANXA5 IDH1 IDH2 LTC4S PRKAA2 PRNP	28 308 3417 3418 4056 5563 5621	Homo sapiens (human)
DOID:2935	Chediak-Higashi syndrome Aliases: CHS Chediak - Steinbrinck anomaly	Wdfy3	72145	Mus musculus (house mouse)
DOID:10595	Charcot-Marie-Tooth disease Aliases: CMT - Charcot-Marie-Tooth disease	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR1 MTMR2 MTMR3 MTMR4 MTMR6 MTMR7 MTMR8 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SGPL1 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 55613 5621 5631 5743 821 84649 847 8776 8879 8897 8898 9107 9108 9110 9517 960 9896	Homo sapiens (human)
DOID:10595	Charcot-Marie-Tooth disease Aliases: CMT - Charcot-Marie-Tooth disease	FIG4	855392	Saccharomyces cerevisiae S288C
DOID:10595	Charcot-Marie-Tooth disease Aliases: CMT - Charcot-Marie-Tooth disease	FIG4	33658	Drosophila melanogaster (fruit fly)
DOID:0050542	Charcot-Marie-Tooth disease type X	PRPS1	5631	Homo sapiens (human)
DOID:0080067	Charcot-Marie-Tooth disease type 5 Aliases: hereditary motor and sensory neuropathy with pyramidal features	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:0110187	Charcot-Marie-Tooth disease type 4K Aliases: CMT4K SURF1-related CMT4 SURF1-related Charcot-Marie-Tooth disease type 4 SURF1-related severe demyelinating Charcot-Marie-Tooth disease autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K	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:0110184	Charcot-Marie-Tooth disease type 4J Aliases: CMT4J autosomal recessive Charcot-Marie-Tooth disease type 4J	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:0110184	Charcot-Marie-Tooth disease type 4J Aliases: CMT4J autosomal recessive Charcot-Marie-Tooth disease type 4J	FIG4	855392	Saccharomyces cerevisiae S288C
DOID:0110184	Charcot-Marie-Tooth disease type 4J Aliases: CMT4J autosomal recessive Charcot-Marie-Tooth disease type 4J	FIG4	33658	Drosophila melanogaster (fruit fly)
DOID:0110192	Charcot-Marie-Tooth disease type 4H Aliases: CMT4H Charcot-Marie-Tooth neuropathy type 4H autosomal recessive Charcot-Marie-Tooth disease type 4H autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H	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:0110196	Charcot-Marie-Tooth disease type 4G Aliases: CMT4G Charcot-Marie-Tooth neuropathy type 4G HMSNR autosomal recessive Charcot-Marie-Tooth disease type 4G hereditary motor and sensory neuropathy Russe type	Hex-t2	43191	Drosophila melanogaster (fruit fly)
DOID:0110196	Charcot-Marie-Tooth disease type 4G Aliases: CMT4G Charcot-Marie-Tooth neuropathy type 4G HMSNR autosomal recessive Charcot-Marie-Tooth disease type 4G hereditary motor and sensory neuropathy Russe type	HXK1 HXK2	850614 852639	Saccharomyces cerevisiae S288C

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