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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 **4076 - 4100** of **4621** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:0060359	Sakati-Nyhan syndrome Aliases: ACPS with leg hypoplasia Sakati syndrome Sakati-Nyhan-Tisdale syndrome acrocephalopolysyndactyly Type III acrocephalopolysyndactyly type 3	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)
DOID:14768	Saethre-Chotzen syndrome	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:0060491	SPOAN syndrome Aliases: spastic paraplegia, optic atropy, and neuropathy spastic paraplegia, optic atropy, and neuropathy 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)
DOID:0080036	SOST-related sclerosing bone dysplasia Aliases: van Buchem disease	CHST3	9469	Homo sapiens (human)
DOID:0111454	SHORT syndrome Aliases: Aarskog-Ose-Pande syndrome Lipodystrophy-Rieger anomaly-diabetes syndrome Rieger anomaly-partial lipodystrophy syndrome short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:0060428	SATB2-associated syndrome Aliases: 2q32-q33 microdeletion syndrome 2q32q33 microdeletion syndrome Glass syndrome chromosome 2q32-q33 deletion syndrome monosomy 2q32 monosomy 2q32-q33 monosomy 2q32q33	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:13677	SAPHO syndrome Aliases: Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome	DPEP1 LPIN2 SMUG1	1800 23583 9663	Homo sapiens (human)
DOID:0111158	SADDAN Aliases: SADDAN dysplasia severe achondroplasia with developmental delay and acanthosis nigricans	ACAN CYP2C19 DCN PLCG1	1557 1634 176 5335	Homo sapiens (human)
DOID:1933	Rubinstein-Taybi syndrome Aliases: Broad Thumb-Hallux syndrome Rubinstein syndrome proximal chromosome 16p13.3 deletion syndrome	ENOSF1 IL18R1 OGG1 PIK3CA	4968 5290 55556 8809	Homo sapiens (human)
DOID:2732	Rothmund-Thomson syndrome Aliases: Congenital poikiloderma RTS	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:0060254	Robinow syndrome Aliases: Robinow dwarfism acral dysostosis with facial and genital abnormalities fetal face syndrome	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:5325	Roberts syndrome Aliases: LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE RBS Roberts-Sc Phocomelia Syndrome SC phocomelia syndrome	MELTF SMC3	4241 9126	Homo sapiens (human)
DOID:9063	Ritter's disease Aliases: Dermatitis exfoliativa neonatorum Pemphigus neonatorum Ritter disease Scalded skin syndrome Staphylococcal scalded skin syndrome Toxic epidermal necrolysis, subcorneal type	EXT1	2131	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:1703	Richter's syndrome Aliases: Richter syndrome	ABO ACE ACSBG1 AKR1C4 ALDH7A1 ANXA5 ANXA7 APRT ARSD ARSH B3GAT1 B4GALNT1 BST1 CALR CD14 CD1D CD22 CD33 CD38 CD44 CD55 CD74 CHST11 CLEC12A CLEC17A COG1 COLEC10 CSPG4 CYP1A1 CYP2B6 CYP2C9 DCN ENO1 FASN FCER2 FCGR3B FH FKRP FMOD G6PD GALNS GALNT11 GLB1 GPLD1 GUSB HAS1 HK1 HMMR HPGDS HPSE2 HSPG2 ICAM1 IDH1 IDH2 IDUA IL18R1 IL18RAP IL1RL1 INPPL1 ISYNA1 LGALS1 LGALS3 LGALS9 LPIN1 LPL MBL2 MCAT MGAT5 MRC1 NDUFAB1 NT5E PARP1 PARP9 PCYT1A PGM3 PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PLCG2 PNP PTEN PTGS2 RENBP SDC1 SDHB SELL SI SIGLEC6 SIGLEC7 SIRT2 SLC2A4 SLC35B2 SMUG1 SULT1E1 TIGAR TNFRSF10C UGT2B17 VCAM1	10584 1109 142 1464 1543 1555 1559 160364 1604 1634 1636 2023 2194 2208 2215 2271 22933 23175 23205 2331 23583 2539 2583 2588 27036 27087 2720 27306 27349 28 2822 2990 3036 308 3098 310 3161 3339 3383 3417 3418 3425 347527 347734 353 3636 388512 3956 3958 3965 4023 414 4153 4249 4360 4706 4860 4907 501 50515 5130 51477 5238 5287 5290 5291 5293 5294 5335 5336 57103 5728 5743 5973 60495 6382 6390 63917 6402 6476 6517 6783 683 7367 7412 79147 811 83666 8794 8807 8809 912 9173 929 933 9382 945 946 952 960 972	Homo sapiens (human)
DOID:14525	Reye syndrome Aliases: Reye's syndrome	ABO ACACA ACADM ACADS ACADVL ACAT1 ACE ACHE ACO1 ACO2 ACOT7 ACOT8 ACSL6 ACSS2 AGPS AGRN AKR1A1 AKR1C2 AKR1C4 ALDH2 ALDH7A1 ALOX12 ALOX5 ALPI ALPP ANXA5 APRT ARSA ASAH1 ATRNL1 B3GALT4 B3GAT1 BCAN BST1 CALR CAT CD14 CD177 CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CFC1 CH25H CHAT CHI3L1 CHIT1 CLC CLEC16A CLEC1B CLEC7A CLN5 CNTN1 CNTN2 COG5 COLGALT2 COMT CPO CPT1A CPT2 CRYL1 CS CSPG4 CTNS CYP11A1 CYP17A1 CYP19A1 CYP1A2 CYP27A1 CYP2B6 CYP2C9 CYP2J2 CYP3A4 CYP46A1 CYP7B1 CYP8B1 DCN DEGS1 DGKQ DHCR24 DHRS11 DLD DLST DPEP2 EDEM2 EFNA5 ENO1 ENO2 ENPP2 EPHX2 EXT1 EXT2 FASN FBXO2 FCGR3B FCN2 FDPS FOLR2 G6PD GAD1 GAD2 GALNS GAPDH GAPDHS GBA1 GFRA1 GGT1 GLB1 GLO1 GLUL GNE GNPAT GNPDA2 GOLPH3 GPAA1 GPC1 GPC6 GPI GPNMB GPX1 GTDC1 GUSB HADHA HAS1 HAS3 HK1 HMGCS2 HPGDS HPSE2 HPSE HS3ST1 HSD11B1 HSD17B1 HSD17B4 HSD17B6 HSD17B7 HSPG2 HYI ICAM1 IDH1 IDH2 IGF2R IL1R1 IL1RAP IL1RL1 IMPA1 INPP5D INPP5K INPPL1 ITPKB KL KLRC1 L1CAM LCAT LCT LDHA LGALS3 LGALS4 LGALS9 LIPA LIPC LIPG LPL LTC4S LYZ LYZL4 MAG MASP1 MBL2 MDH2 MELTF MGAT3 MGLL MICA MMUT MOGAT3 MPG MPI MRC1 NAAA NAMPT NANS NCAM1 NEU1 NPL NT5E OGA OGDH OGDHL OGG1 OGT OLR1 PAFAH1B2 PARP1 PC PCK1 PCYT1A PCYT1B PEMT PFKFB3 PGD PGP PI4KA PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKM PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCG2 PLD1 PLD2 PLD3 PLPP4 PMM2 PNP PNPLA2 PNPLA7 PPT1 PRG2 PRKAA2 PRNP PTDSS1 PTEN PTGDS PTGES2 PTGES3 PTGES PTGS1 PTGS2 RENBP RGN RTN4R SCD5 SCD SCP2 SDC2 SDC3 SDCBP2 SFTPA1 SFTPC SGMS2 SGSH SI SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC2A3 SLC2A4 SLC33A1 SLC35A1 SLC35A2 SMPD2 SMPD3 SMUG1 SOAT1 SPHK1 SPHK2 SQLE ST3GAL4 ST6GAL1 ST8SIA1 STS SUCLA2 SUCLG2 SYNJ1 TIGAR TKT TM7SF2 TMED9 TPI1 UGCG UGT1A1 UMOD UNG VCAM1 VCAN	10005 10020 100507436 10082 1012 10135 10327 10400 10457 10466 1048 10559 10724 10728 10855 10858 1103 1109 1116 1118 11332 11343 1178 1203 1272 130749 1312 131375 132789 1374 1376 142 1431 1462 1464 1497 151056 1544 1555 1559 1573 1576 1582 1583 1586 1588 1593 1604 1609 1634 1636 1646 166929 1718 1738 1743 1946 196051 200576 2023 2026 2053 2131 2132 217 2194 2215 2220 2224 22933 23127 23236 23274 23305 2350 23583 23646 23659 239 240 248 250 2539 2571 2572 2588 2597 26033 26232 2629 26330 26503 2674 2678 27036 27087 27111 27163 2720 27306 2739 2752 28 2817 2821 283871 2876 2990 3030 3036 3038 308 30835 3098 31 3158 3290 3292 3295 3339 3383 34 3417 3418 346606 3482 35 353 3554 3556 3612 3635 3636 37 3707 375775 375790 38 3821 3897 3931 3938 3939 3958 3960 3965 3988 3990 4023 4056 4069 4099 410 412 4153 4191 4241 4248 427 43 4350 4351 4360 4594 4680 4684 4758 48 4860 4907 4967 4968 4973 50 501 5049 5091 5105 51084 51266 5130 51478 51548 5168 51763 5209 5226 5289 5290 5291 5293 5294 5297 5315 5319 5320 5321 5329 5336 5337 5338 5373 54187 54658 54732 5538 55512 5553 5563 55741 55753 55902 55997 5621 5648 56848 57103 57104 57126 5728 5730 5742 5743 5973 60495 6319 6342 63827 6383 64083 64174 6440 6448 64581 6476 6480 6484 6489 65078 6515 6517 653509 6610 6646 6713 683 6900 7086 7108 7167 7355 7357 7369 7374 7412 79154 7941 79712 79966 80142 80896 811 81888 8398 8443 847 8473 8540 8560 8630 8705 8733 8801 8803 8867 8877 9023 9104 9173 9197 929 9365 9388 9420 945 9468 952 9536 960 9672 972 9791 9957	Homo sapiens (human)
DOID:1206	Rett syndrome Aliases: Rett's disorder cerebroatrophic hyperammonemia	ADIPOQ ALDH5A1 ALOX15 AMACR ARSD CAT CHAT ENO2 EPM2A FBP1 FBP2 FOLR1 FOLR2 HAGH HPRT1 L1CAM NTNG1 PAFAH1B1 SIRT2 ST3GAL5	1103 2026 2203 22854 22933 2348 2350 23600 246 3029 3251 3897 414 5048 7915 7957 847 8789 8869 9370	Homo sapiens (human)
DOID:0060179	Renpenning syndrome Aliases: Golabi-Ito-Hall syndrome Sutherland-Haan X-linked mental retardation syndrome X-linked intellectual disability due to PQBP1 mutations X-linked intellectual disability, Renpenning type X-linked mental retardation Renpenning type X-linked mental retardation with spastic diplegia syndromic X-linked mental retardation 8	G6PD STS	2539 412	Homo sapiens (human)
DOID:10582	Refsum disease Aliases: HMSN type IV HSMN IV Heredopathia atactica polyneuritiformis Refsum's disease adult Refsum disease classic Refsum disease phytanic acid oxidase deficiency	CAT GPD1 HSD17B4 SCP2	2819 3295 6342 847	Homo sapiens (human)
DOID:10300	Raynaud disease Aliases: Raynaud's disease Raynaud's syndrome	ACE AGXT ANXA5 CAT CNTN3 GAD1 SDHC	1636 189 2571 308 5067 6391 847	Homo sapiens (human)
DOID:0060330	Rapp-Hodgkin syndrome Aliases: RHS anhidrotic ectodermal dysplasia with cleft lip/palate ectodermal dysplasia syndrome, Rapp-Hodgkin type ectodermal dysplasia, Rapp-Hodgkin type	DHCR7	1717	Homo sapiens (human)
DOID:0081097	Rafiq syndrome Aliases: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15	MAN1B1	11253	Homo sapiens (human)
DOID:9091	REM sleep behavior disorder Aliases: REM sleep behaviour disorder Rapid eye movement sleep behavior disorder Rapid eye movement sleep behaviour disorder	GBA1 PAFAH1B1 PRNP SMUG1	23583 2629 5048 5621	Homo sapiens (human)
DOID:11100	Q fever Aliases: Infection due to Coxiella burnetii	ACHE ALPI ALPP APRT CS DHCR24 LSS MTAP PTGS2 SMUG1	1431 1718 23583 248 250 353 4047 43 4507 5743	Homo sapiens (human)
DOID:13482	Proteus syndrome Aliases: Wiedemann's syndrome	AKT1 GPC3 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SELE SELP	207 2719 5290 5291 5293 5294 5728 6401 6403	Homo sapiens (human)

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