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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 **6351 - 6375** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110768	hereditary spastic paraplegia 15 Aliases: Kjellin syndrome SPG15 autosomal recessive spastic paraplegia 15 autosomal recessive spastic paraplegia type 15 hereditary spastic paraparesis type 15 spastic paraplegia and retinal degeneration spastic paraplegia-retinal degeneration syndrome	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)	DisGeNET
DOID:9513	plasma cell leukemia Aliases: plasma cell leukaemia plasmacytic leukaemia plasmacytic leukemia	ICAM1 NCAM1 PTEN	3383 4684 5728	Homo sapiens (human)	DisGeNET
DOID:0111157	Castleman disease Aliases: angiofollicular lymph hyperplasia angiofollicular lymph node hyperplasia giant lymph node hyperplasia lymphoid hamartoma	CD48 FUT4 MLYCD SMUG1	23417 23583 2526 962	Homo sapiens (human)	DisGeNET DisGeNET
DOID:9463	otitis externa Aliases: swimmer's ear	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:9565	dextrocardia Aliases: Heart predominantly in right hemithorax	INPP5E PKD1 TGDS	23483 5310 56623	Homo sapiens (human)	DisGeNET
DOID:0060731	congenital central hypoventilation syndrome Aliases: CCHS Ondine curse Ondine syndrome central congenital hypoventilation syndrome congenital central alveolar hypoventilation syndrome	ACE CYP11B1 CYP11B2 CYP1A2 CYP2J2 ENOSF1 GNE GNPTAB IDS LGALS3 NANS PTEN PTGS2 SLC2A10	10020 1544 1573 1584 1585 1636 3423 3958 54187 55556 5728 5743 79158 81031	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:5577	gastrinoma Aliases: Gastrin Secreting tumor Gastrin cell tumour malignant gastrinoma	CD44 CHGA PYGM SIGLEC7 SLC2A2	1113 27036 5837 6514 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:2452	thrombophilia Aliases: hypercoagulability state	A4GALT ABO ACE ACSM3 ACSS2 ALG6 ANXA5 B3GAT2 CALR CAT CD14 CEACAM5 CEACAM7 CHI3L1 CLEC1B COMT CYP19A1 CYP1A1 CYP1A2 CYP2C9 CYP3A5 CYP4F2 DLD DPM1 DPM2 EXT1 FCGR3B GBGT1 GFRA1 GLA GPI GPX3 HPSE IDH1 IDH2 LCT LPL LTC4S MBL2 MGAT2 MGLL MPI NGLY1 NT5E PC PIGA PIGM PLA2G15 PLA2G1B PLA2G2A PLA2G6 PLB1 PLCG2 PMM2 PPP1R3B PPP1R3C PTEN SCD SDC1 SELE SELP SMPD1 SMUG1 SRD5A3 ST3GAL4 STS TKTL1 TM7SF2 VCAM1	1048 10855 1087 1116 11343 1312 135152 151056 1543 1544 1559 1577 1588 1636 1738 2131 2215 23583 23659 26301 2674 2717 28 2821 2878 29929 308 3417 3418 3938 4023 4056 412 4153 4247 4351 4907 5091 51266 5277 5319 5320 5336 5373 53947 5507 55768 55902 5728 6296 6319 6382 6401 6403 6484 6609 7108 7412 79644 79660 811 8277 8398 847 8529 8813 8818 929 93183	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:11193	syndactyly Aliases: symphalangism symphalangy webbing of digits	ACSL3 B3GLCT CHSY1 FIG4 MAN1B1 MMUT PIK3CA PTDSS1	11253 145173 2181 22856 4594 5290 9791 9896	Homo sapiens (human)	DisGeNET
DOID:4551	anus benign neoplasm Aliases: anal neoplasm anal tumors neoplasm of anus	CEACAM5 LIPA PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	1048 23583 3988 5290 5291 5293 5294	Homo sapiens (human)	DisGeNET
DOID:50	thyroid gland disease	ABO AGA ALG1 ALPI ALPP ATRNL1 CAT CD14 CEACAM5 CEACAM7 CYP1A2 CYP2R1 GAD1 GAD2 HSD17B7 ICAM1 IDH1 IDH2 IL18R1 IL18RAP INPP4B LDHA LGALS1 LGALS3 MBL2 PARP1 PARP4 PIK3CA PKM PTEN PTGDS PTGS2 SDHB SDHC SDHD SMUG1 TM7SF2	1048 1087 120227 142 143 1544 175 23583 248 250 2571 2572 26033 28 3383 3417 3418 3939 3956 3958 4153 51478 5290 5315 56052 5728 5730 5743 6390 6391 6392 7108 847 8807 8809 8821 929	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110431	dilated cardiomyopathy 1I Aliases: CMD1I	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)	DisGeNET
DOID:495	sclerosing hemangioma Aliases: Sclerosing haemangioma	KLRK1 MTAP	22914 4507	Homo sapiens (human)	DisGeNET
DOID:12466	secondary hyperparathyroidism	ALPL CYP24A1 CYP27B1 CYP2B6 CYP2R1 CYP3A4 KL PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 UMOD	120227 1555 1576 1591 1594 249 5290 5291 5293 5294 5743 7369 9365	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:7732	childhood malignant schwannoma Aliases: pediatric MPNST	CD44 CHSY1 IL1R1 SMUG1	22856 23583 3554 960	Homo sapiens (human)	DisGeNET
DOID:12451	sulfhemoglobinemia	APRT CYB5R3 CYP1A2 DLD G6PC1 G6PD	1544 1727 1738 2538 2539 353	Homo sapiens (human)	DisGeNET
DOID:8913	dermatophytosis	CLEC12A CLEC6A CLEC7A CYP51A1 ICAM1 IGF2R IMPA1 MBL2 NCAM1 PFKFB3 PRG2 SMUG1	1595 160364 23583 3383 3482 3612 4153 4684 5209 5553 64581 93978	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:14239	gastrointestinal tularemia Aliases: Enteric tularemia intestinal tularaemia	MBL2	4153	Homo sapiens (human)	DisGeNET
DOID:0060470	salt and pepper syndrome Aliases: salt & pepper syndrome salt-and-pepper syndrome	ST3GAL5	8869	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:3178	skin papilloma Aliases: cutaneous papilloma papilloma of skin	AMACR CD44 CYP24A1 G6PD GALK1 GLB1 GPC3 HPSE ICAM1 LGALS3 LGALS9 MTAP NSDHL PARP1 PIK3CA PKD1 PKM PLA2G6 PLCB4 PTEN PTGS2 RECK SDHB SDHC SDHD SIRT6 STS TLR2 VCAN	10855 142 1462 1591 23600 2539 2584 2719 2720 3383 3958 3965 412 4507 50814 51548 5290 5310 5315 5332 5728 5743 6390 6391 6392 7097 8398 8434 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0080566	congenital disorder of glycosylation In Aliases: congenital disorder of glycosylation 1n	MOGS PMM2 RFT1 SLC35A2 SLC39A8	5373 64116 7355 7841 91869	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:1996	rectum adenocarcinoma Aliases: Rectal adenocarcinoma	ABO ACAT1 ACE ACSS2 ALDH2 ALDH7A1 ALDOB ALOX12 ALOX15 ARSA ASAH1 CALR CD44 CEACAM5 CEACAM7 CERS4 CERS5 CHI3L1 CHPT1 COMT CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP2E1 DHCR24 DHDDS EXT1 FH GPX2 GPX3 HMGCS2 HPGDS HSD17B2 MICA MRC1 MUTYH NT5E OGG1 PARP1 PCK2 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2G4A PNPLA2 PTEN PTGS1 PTGS2 RENBP SMUG1 TDG TKT TKTL1 TYMP UGT1A1 UMPS	100507436 1048 1087 1116 1312 142 1543 1544 1571 1586 1588 1636 1718 1890 2131 217 2271 229 23583 23659 239 246 27306 28 2877 2878 3158 3294 38 410 427 4360 4595 4907 4968 501 5106 5290 5291 5293 5294 5321 54658 55902 56994 57104 5728 5742 5743 5973 6996 7086 7372 79603 79947 811 8277 91012 960	Homo sapiens (human)	DisGeNET DisGeNET
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)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:4964	neurotic disorder Aliases: Neurotic depression reactive type Neurotic depressive state Psychoneurosis depressive neurosis neurosis neurotic depression reactive depression	ABAT ABO ACACA ACACB ACE ACHE ACOT7 ACOX1 ACSL4 ACSM1 ACSS2 ADH1B ADH1C AKR1A1 AKR1C2 AKR1C4 ALDH2 ALDH3A1 ALDH7A1 ALG8 ALOX5 ALPL AMACR AMT AMY1A AMY1B AMY1C ANXA4 APRT ARSA ARSD ARSG ARSI ATP6AP2 B3GALNT2 B3GAT1 BST1 CACNA2D1 CALR CAT CD38 CDH13 CHAT CHPF CHPT1 CLEC4E CNTN3 CNTN5 COL9A2 COMT CPT1A CRLS1 CS CSPG4 CYP19A1 CYP1A2 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 CYP46A1 DEGS1 DGKB DGKG DGKH DHDDS DLD EDEM1 ENO2 EPM2A FADS1 FADS2 FDPS FIG4 GAD1 GAD2 GALC GBA1 GLA GLO1 GLT8D1 GLUL GOLPH3 GPC6 GPI GPX1 HACD3 HPGDS HPSE HS6ST1 HSD11B1 ICAM1 IDS IDUA IL1R1 IMPA2 INPP5K INPPL1 KL L1CAM LDHA LGALS1 LGALS3 LIPA LMAN2L LPGAT1 LTA4H M6PR MAG MAN1B1 MBOAT7 MCAT MDGA1 MDGA2 MDH2 ME1 MPG MPI MUTYH NANS NCAM1 NCAN NDST1 NDST3 NEIL1 NT5E NTM OCRL OGG1 OPCML PAFAH1B1 PARP14 PARP1 PDIA3 PFKFB3 PGAP1 PGD PGP PIGC PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLB1 PLCB1 PLCB4 PNPLA2 PNPLA6 PPP1R3B PPP1R3C PPT1 PRNP PSAP PTEN PTGDS PTGS1 PTGS2 RGN SCD SDHD SELP SGMS2 SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC2A4 SLC33A1 SLC35G1 SMPD1 SMUG1 SOAT1 SRD5A1 ST3GAL3 ST3GAL4 ST8SIA4 SUCLA2 SULT1E1 TECR TGDS TNKS2 TNKS TUSC3 UGCG VCAM1 XYLT2	10082 1012 10159 10327 10855 10858 10908 1103 1109 11253 11332 116285 125 126 1298 1312 1374 142 1431 1463 1464 148789 151056 1544 1555 1557 1559 1571 1576 1588 1593 159371 1607 1608 160851 161357 1636 1646 166929 1738 18 2026 217 218 2182 2224 22901 22933 23236 23483 23583 23600 23659 240 249 2571 2572 2581 26253 2629 26503 266727 27036 27087 2717 27306 27349 2739 275 2752 276 277 278 28 2821 283871 2876 2923 307 31 32 3290 3340 3383 340075 3423 3425 353 3554 3613 3636 3897 3939 3956 3958 3988 3992 4048 4074 4099 410 414 4191 4199 43 4350 4351 4595 4684 4907 4952 4968 4978 501 5048 5067 50863 51 51495 51548 51763 5209 5226 5279 5290 5291 5293 5294 5319 5320 5321 5332 53942 54187 54625 54675 5507 5538 55830 55902 5621 5660 56994 57104 5728 5730 5742 5743 6319 6392 6403 64083 64132 6484 6487 6517 6609 6646 6715 6783 683 7357 7412 781 7903 79053 79143 7957 79586 79660 79661 7991 79947 80055 80351 811 81562 8398 847 8560 8658 8803 9104 9197 9348 9365 9394 9415 952 9524 9695 9896 9926	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	ACE ACHE ALG8 ANXA5 ARSA ASAH1 B3GLCT BAAT BAD CAT CDH13 COMT CPT1C CS CYP19A1 CYP2B6 EFNA5 ENO2 ENPP1 EXT2 FADS2 FASN FUCA1 G6PD GAS1 GLUL GNE GPC1 GPX1 HJV HSD17B3 HSD3B1 INPP5B L1CAM LGALS3 LIPC MBL2 MPDU1 NCAM1 NR1D1 PCNA PHKA1 PIK3C2A PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLOD3 PMM2 PNPLA3 PRKAA2 PTEN PTGS2 SGPL1 SLC2A12 SLC2A1 SLC2A3 SLC2A8 SMUG1 SRD5A1 SRD5A3 UCP2	10020 1012 126129 1312 1431 145173 148738 154091 1555 1588 1636 1946 2026 2132 2194 23583 2517 2539 2619 2752 2817 2876 29988 308 3283 3293 3633 3897 3958 3990 410 4153 427 43 4684 5111 5167 5255 5286 5289 5290 5291 5293 5294 5320 5373 5563 570 572 5728 5743 6513 6515 6715 7351 79053 79644 80339 847 8879 8985 9415 9526 9572	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources

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