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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 **3476 - 3500** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism
DOID:0110208	Charcot-Marie-Tooth disease X-linked recessive 2 Aliases: CMTX2 Charcot-Marie-Tooth neuropathy X-linked recessive 2 X-linked Charcot-Marie-Tooth disease type 2	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:0110195	Charcot-Marie-Tooth disease type 4E Aliases: CMT4E Charcot-Marie-Tooth neuropathy type 4E Neuropathy, congenital hypomyelinating, 1 autosomal recessive congenital hypomyelinating or amyelinating neuropathy	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:0110174	Charcot-Marie-Tooth disease axonal type 2L Aliases: CMT2L Charcot-Marie-Tooth neuropathy axonal type 2L autosomal dominant Charcot-Marie-Tooth disease type 2L autosomal dominant axonal Charcot-Marie-Tooth disease type 2L	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:0110161	Charcot-Marie-Tooth disease type 2R Aliases: CMT2R Charcot-Marie-Tooth neuropathy type 2R autosomal recessive axonal Charcot-Marie-Tooth disease type 2R	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:0110183	Charcot-Marie-Tooth disease type 4C Aliases: CMT4C Charcot-Marie-Tooth neuropathy type 4C autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C	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: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:0110198	Charcot-Marie-Tooth disease recessive intermediate C Aliases: CMTRIC RI-CMT type C RI-CMTC autosomal recessive intermediate Charcot-Marie-Tooth disease type C	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:0110149	Charcot-Marie-Tooth disease type 1F Aliases: CMT1F Charcot-Marie-Tooth neuropathy type 1F	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:0110157	Charcot-Marie-Tooth disease type 2J Aliases: CMT2J Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities Charcot-Marie-Tooth neuropathy type 2J	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:0110182	Charcot-Marie-Tooth disease axonal type 2C Aliases: CMT2C Charcot-Marie-Tooth neuropathy type 2C HMSN2C autosomal cominant axonal Charcot-Marie-Tooth disease type 2C autosomal dominant Charcot-Marie-Tooth disease type 2C hereditary motor and sensory neuropathy type IIc	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:0110191	Charcot-Marie-Tooth disease type 4B1 Aliases: CMT4B1 Charcot-Marie-Tooth neuropathy type 4B1 autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR1 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 8776 8898 9517 960 9896	Homo sapiens (human)
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:0060843	hereditary neuropathy with liability to pressure palsies Aliases: HNPP current pressure-sensitive neuropathy familial recurrent polyneuropathy heterozygous microdeletion 17p11.2p12 potato-grubbing palsy tomaculous neuropathy tulip-bulb digger's palsy	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GLB1 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 2720 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:0110170	Charcot-Marie-Tooth disease axonal type 2Q Aliases: CMT2Q Charcot-Marie-Tooth neuropathy type 2Q autosomal dominant Charcot-Marie-Tooth disease type 2Q autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 DHTKD1 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 55526 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:184	bone cancer Aliases: CA - bone cancer bone neoplasm bone tumour malignant bone neoplasm malignant bone tumour malignant neoplasm of bone malignant osseous tumor neoplasm of bone osseous tumor	ACE ALPP ATRNL1 CD38 CDH13 CYP1A1 DPEP1 EXT1 EXT2 FASN HPGDS ICAM1 IDH1 IDH2 MGLL MTAP NANS PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SDC2 SMC3 SMUG1	1012 11343 1543 1636 1800 2131 2132 2194 23583 250 26033 27306 3383 3417 3418 4507 5290 5291 5293 5294 54187 5743 6383 9126 952	Homo sapiens (human)
DOID:11722	myotonic dystrophy type 1 Aliases: Dystrophia myotonica Steinert disease congenital myotonic dystrophy myotonic dystrophy of Steinert	ACE ALPP ATRNL1 CAT CHI3L1 CYP2B6 DAG1 DGCR2 FASN GAD2 GCK HAS2 HSPG2 LPL MGAM MRC1 MTM1 MTMR1 PGD PGP PLCB1 PRKAA2 PRNP SELE SELP SI SIRT6 SLC2A4 SLC35G1 ST8SIA4 UGT8	1116 1555 159371 1605 1636 2194 23236 250 2572 26033 2645 283871 3037 3339 4023 4360 4534 51548 5226 5563 5621 6401 6403 6476 6517 7368 7903 847 8776 8972 9993	Homo sapiens (human)
DOID:2444	hyperpituitarism	ACE ALPP ATRNL1 CALR CYP11B2 DGCR2 HSD11B1 KL LGALS3 LPL NAMPT RENBP	10135 1585 1636 250 26033 3290 3958 4023 5973 811 9365 9993	Homo sapiens (human)
DOID:2449	acromegaly	ACE ALPP ATRNL1 CALR CYP11B2 DGCR2 HSD11B1 KL LGALS3 LPL NAMPT RENBP	10135 1585 1636 250 26033 3290 3958 4023 5973 811 9365 9993	Homo sapiens (human)
DOID:11202	primary hyperparathyroidism Aliases: familial primary hyperparathyroidism	ACE ALPP APRT ATRNL1 CYP19A1 KL MCAT PTGS2 SDHC	1588 1636 250 26033 27349 353 5743 6391 9365	Homo sapiens (human)
DOID:12895	keratoconjunctivitis sicca Aliases: KCS	ACE ALPP AMY1A AMY1B AMY1C ATRNL1 CALR CD14 CD44 CHIA CHST3 CNTN2 CYP19A1 CYP1A1 DGKQ DLAT FUCA1 GLO1 HPSE ICAM1 IL18R1 LYZ MBL2 PC PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTEN SELE SEMA7A SOAT1 SPHK1 STS TNF VCAM1 VTCN1	10855 1543 1588 1609 1636 1737 250 2517 26033 27159 2739 276 277 278 3383 4069 412 4153 5091 5290 5291 5293 5294 5563 5728 6401 6646 6900 7124 7412 79679 811 8482 8809 8877 929 9469 960	Homo sapiens (human)
DOID:12894	Sjogren's syndrome Aliases: Sicca syndrome Sjogren syndrome xerodermosteosis	ACE ALPP AMY1A AMY1B AMY1C ATRNL1 BST2 CALR CD14 CD44 CHIA CHST3 CNTN2 CYP19A1 CYP1A1 DGKQ DLAT FUCA1 GLO1 HPSE ICAM1 IL18R1 LYZ MBL2 PC PIK3CA PIK3CB PIK3CD PIK3CG PRKAA2 PTEN SELE SELP SEMA7A SOAT1 SPHK1 STS TNF VCAM1 VTCN1	10855 1543 1588 1609 1636 1737 250 2517 26033 27159 2739 276 277 278 3383 4069 412 4153 5091 5290 5291 5293 5294 5563 5728 6401 6403 6646 684 6900 7124 7412 79679 811 8482 8809 8877 929 9469 960	Homo sapiens (human)
DOID:13809	familial combined hyperlipidemia Aliases: familial multiple lipoprotein-type hyperlipidemia hyperbetalipoproteinemia with prebetalipoproteinemia mixed hyperlipidaemia type IIb hyperlipoproteinemia	ACE ALPL CHIT1 CYP7A1 LCAT LIPC LPL LYPLA2 PNPLA2 SCD SELP SIGLEC7	1118 11313 1581 1636 249 27036 3931 3990 4023 57104 6319 6403	Homo sapiens (human)
DOID:0050463	campomelic dysplasia Aliases: Acampomelic Campomelic Dysplasia	ACE ALPL B4GALNT2 CD177 CHKB DAG1 FKRP FKTN IGF2R LGALS4 MPI POMT1 POMT2 ST3GAL4	10585 1120 124872 1605 1636 2218 249 29954 3482 3960 4351 57126 6484 79147	Homo sapiens (human)
DOID:10573	osteomalacia	ACE ALPL APRT BAAT CEACAM5 CEACAM7 CTNS CYP24A1 CYP27A1 CYP27B1 CYP2R1 CYP3A4 CYP7A1 DHCR7 EHHADH ENPP1 GALC GGT1 HSD11B2 HSD3B7 KL MCAT OCRL PHOSPHO1 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 RGN SCD SFTPA1 SLC17A5 SLC2A2 TALDO1	1048 1087 120227 1497 1576 1581 1591 1593 1594 162466 1636 1717 1962 249 2581 26503 2678 27349 3291 353 4952 5167 5290 5291 5293 5294 570 5743 6319 6514 653509 6888 80270 9104 9365	Homo sapiens (human)
DOID:10609	rickets Aliases: active rickets	ACE ALPL APRT BAAT CEACAM5 CEACAM7 CTNS CYP24A1 CYP27A1 CYP27B1 CYP2R1 CYP3A4 CYP7A1 DHCR7 EHHADH ENPP1 GALC GGT1 HSD11B2 HSD3B7 KL L1CAM MCAT OCRL PHOSPHO1 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 RGN SCD SFTPA1 SLC17A5 SLC2A2 TALDO1	1048 1087 120227 1497 1576 1581 1591 1593 1594 162466 1636 1717 1962 249 2581 26503 2678 27349 3291 353 3897 4952 5167 5290 5291 5293 5294 570 5743 6319 6514 653509 6888 80270 9104 9365	Homo sapiens (human)

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