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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 **3501 - 3525** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:0070145	hereditary sensory and autonomic neuropathy type 5 Aliases: HSAN5 hereditary sensory and autonomic neuropathy type V	CAT HPGDS SPTLC1	10558 27306 847	Homo sapiens (human)
DOID:161	keratosis	CAT HPGDS OGG1 PIK3CA SDHD SPTLC1	10558 27306 4968 5290 6392 847	Homo sapiens (human)
DOID:11589	Riley-Day syndrome Aliases: HSAN III familial autonomic nervous dysfunction familial dysautonomia	GLA HMGCS2 ICAM1 SPTLC1	10558 2717 3158 3383	Homo sapiens (human)
DOID:13072	acquired hyperkeratosis Aliases: Keratoderma - acquired Keratoderma, acquired acquired keratoderma	ALDH3A2 ALOX12B APRT B3GAT1 CAT CD44 CLEC7A COG6 ELOVL4 ENPP1 GBA1 GLA MOGS MPDU1 MRC1 NAGA NEU1 NSDHL OGG1 PIGL PIK3CA PTGS2 SDC1 SPTLC1 SRD5A3 STS SULT2B1	10558 224 242 2629 27087 2717 353 412 4360 4668 4758 4968 50814 5167 5290 5743 57511 6382 64581 6785 6820 7841 79644 847 9487 9526 960	Homo sapiens (human)
DOID:0070152	hereditary sensory and autonomic neuropathy type 1A Aliases: HSAN1A hereditary sensory and autonomic neuropathy type IA	AGXT CYP4F3 GAS1 SPTLC1 SPTLC2	10558 189 2619 4051 9517	Homo sapiens (human)
DOID:0070162	hereditary sensory and autonomic neuropathy type 1 Aliases: HSAN1 hereditary sensory and autonomic neuropathy type I	AGXT CYP4F3 FIG4 GAS1 SPTLC1 SPTLC2 SPTLC3	10558 189 2619 4051 55304 9517 9896	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:0070161	hereditary sensory and autonomic neuropathy type 2 Aliases: HSAN2 hereditary sensory and autonomic neuropathy type II	ACE ARSA CANX CD44 DGAT2 FIG4 GBA1 HADHB HK1 LCAT MAG MTM1 MTMR2 PGK1 PGM1 PRPS1 SIGLEC7 SPTLC1 SPTLC2	10558 1636 2629 27036 3032 3098 3931 4099 410 4534 5230 5236 5631 821 84649 8898 9517 960 9896	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:2491	sensory peripheral neuropathy Aliases: peripheral Sensory Neuropathy sensory neuropathy	AGXT CYP27A1 CYP4F3 GAS1 MTMR2 PKLR PRPS1 SLC33A1 SPTLC1 SPTLC2 SPTLC3	10558 1593 189 2619 4051 5313 55304 5631 8898 9197 9517	Homo sapiens (human)
DOID:5418	schizoaffective disorder	ACADS ACHE ACOT7 ACSL6 ADH1B AGA ALDH2 ALDH5A1 ALG9 ARSA ARSB B3GAT1 CALR CHI3L1 CHPT1 COMT CYP27B1 CYP2B6 DHDDS EPM2A G6PD GAD1 GAD2 GLUL HPGDS LGALS3 ME2 MGAT1 NPL PAFAH1B1 PIK3C2A PLA2G1B PLA2G4A PLCB4 PPT1 PRNP RPN2 RTN4R SLC27A5 SMUG1 SPTLC1 ST3GAL1 UXS1 VCAM1	10558 10998 1116 11332 125 1312 1555 1594 175 217 23305 23583 2539 2571 2572 27087 27306 2752 35 3958 410 411 4200 4245 43 5048 5286 5319 5321 5332 5538 5621 56994 6185 6482 65078 7412 7915 7957 79796 79947 80146 80896 811	Homo sapiens (human)
DOID:11328	schizophreniform disorder	ACADS ACHE ACOT7 ACSL6 ADH1B AGA ALDH2 ALDH5A1 ALG9 ARSA ARSB B3GAT1 CALR CHI3L1 CHPT1 COMT CYP27B1 CYP2B6 DHDDS EPM2A G6PD GAD1 GAD2 GLUL HPGDS LGALS3 ME2 MGAT1 NPL PAFAH1B1 PIK3C2A PLA2G1B PLA2G4A PLCB4 PPT1 PRNP RPN2 RTN4R SLC27A5 SMUG1 SPTLC1 ST3GAL1 UXS1 VCAM1	10558 10998 1116 11332 125 1312 1555 1594 175 217 23305 23583 2539 2571 2572 27087 27306 2752 35 3958 410 411 4200 4245 43 5048 5286 5319 5321 5332 5538 5621 56994 6185 6482 65078 7412 7915 7957 79796 79947 80146 80896 811	Homo sapiens (human)
DOID:0110193	Charcot-Marie-Tooth disease type 4F Aliases: CMT4F	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:0110160	Charcot-Marie-Tooth disease axonal type 2T Aliases: AR-CMT2T CMT2T Charcot-Marie-Tooth neuropathy type 2T autosomal recessive axonal Charcot-Marie-Tooth disease type 2T	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:0110179	Charcot-Marie-Tooth disease type 2B2 Aliases: AR-CMT2B2 ARCMT2B Autosomal recessive axonal CMT4C3 CMT2B2 Charcot-Marie-Tooth disease neuronal type 2B2 Charcot-Marie-Tooth neuropathy type 2B2 autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2	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:0110202	Charcot-Marie-Tooth disease dominant intermediate A Aliases: CMTDIA Charcot-Marie-Tooth neuropathy dominant intermediate A DI-CMTA autosomal dominant intermediate Charcot-Marie-Tooth disease type A	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:0110154	Charcot-Marie-Tooth disease type 2A1 Aliases: CMT2A1 Charcot-Marie-Tooth disease neuronal type 2A1 Charcot-Marie-Tooth neuropathy type 2A1 HMSN IIA1 HMSN2A1 autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1 hereditary motor and sensory neuropathy IIA1	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:0110164	Charcot-Marie-Tooth disease type 2D Aliases: CMT2D Charcot-Marie-Tooth disease neuronal type 2D Charcot-Marie-Tooth neuropathy type 2D autosomal dominant Charcot-Marie-Tooth disease type 2D	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:0110205	Charcot-Marie-Tooth disease dominant intermediate E Aliases: CMTDIE Charcot-Marie-Tooth disease-nephropathy syndrome Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis autosomal dominant intermediate Charcot-Marie-Tooth disease type E	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:0110159	Charcot-Marie-Tooth disease type 2B Aliases: CMT2B Charcot-Marie-Tooth neuropathy type 2B HMSN IIB HMSN2B autosomal dominant Charcot-Marie-Tooth disease type 2B hereditary motor and sensory nueropathy IIB	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: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	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:0110199	Charcot-Marie-Tooth disease dominant intermediate C Aliases: CMTDIC Charcot-Marie-Tooth neuropathy dominant intermediate C DI-CMTC autosomal dominant 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: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:0110163	Charcot-Marie-Tooth disease axonal type 2F Aliases: CMT2F Charcot-Marie-Tooth neuronal type 2F Charcot-Marie-Tooth neuropathy type 2F autosomal dominant Charcot-Marie-Tooth disease type 2F	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:0110151	Charcot-Marie-Tooth disease type 1C Aliases: CMT slow nerve conduction type C CMT1C Charcot-Marie-Tooth neuropathy type 1C HMSN IC HMSN1C neuropathy hereditary motor and sensory type 1C	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)

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