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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 **201 - 225** of **4621** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	B3GALT6 B4GALT7 DCN HSPG2 PRG2 VCAN	11285 126792 1462 1634 3339 5553	Homo sapiens (human)
DOID:0050807	Kahrizi syndrome Aliases: KHRZ intellectual disability, Kahrizi type intellectual disability-cataract-coloboma-kyphosis syndrome	SRD5A3	79644	Homo sapiens (human)
DOID:0050809	mucopolysaccharidosis IX	HYAL1 HYAL2	3373 8692	Homo sapiens (human)
DOID:0050811	congenital adrenal hyperplasia Aliases: adrenal hyperplasia 1 congenital lipoid adrenal hyperplasia lipoid CAH	ACADVL CFC1 CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP2B6 CYP2C19 CYP4F3 FH GLO1 GML HADHA HSD11B2 HSD17B1 HSD17B3 HSD17B6 HSD3B1 HSD3B2 IDS MDH2 OTOA SDHB	146183 1555 1557 1583 1584 1585 1586 1588 1589 2271 2739 2765 3030 3283 3284 3291 3292 3293 3423 37 4051 4191 55997 6390 8630 9469	Homo sapiens (human)
DOID:0050812	spondyloepimetaphyseal dysplasia, Pakistani type Aliases: spondyloepimetaphyseal dysplasia Pakistani type	PAPSS2	9060	Homo sapiens (human)
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	CHST3	9469	Homo sapiens (human)
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	CHSY1 TGDS	22856 23483	Homo sapiens (human)
DOID:0050816	urofacial syndrome Aliases: Ochoa syndrome hydronephrosis with peculiar facial expression	HPSE2 HPSE	10855 60495	Homo sapiens (human)
DOID:0050817	Stargardt disease Aliases: STARGARDT DISEASE 1	AKR1A1 ELOVL4 NYX PNPLA6 PPT1 RPE	10327 10908 5538 60506 6120 6785	Homo sapiens (human)
DOID:0050818	transcobalamin II deficiency Aliases: TCN2 deficiency	MMUT	4594	Homo sapiens (human)
DOID:0050819	obsolete Matthew-Wood syndrome	ABO ACE ACYP2 AKR1B10 ALDH7A1 APRT ARSA ARSH C1GALT1 C1GALT1C1 CALR CD177 CD38 CD44 CEACAM5 CEACAM7 CEL CEMIP CERK CHKA CHST15 CYP3A5 DPEP1 ENO1 FASN FBP1 FCGR3B FCN2 FDPS FUT3 FUT4 GAD1 GALNT3 GAPDH GLUL GOLPH3 GP2 GPC1 GPC5 GPI GPX1 HAS2 HK1 HK2 HMMR HYAL2 IDH1 INPP5D KL L1CAM LDHB LGALS1 LGALS3 LGALS4 LPCAT2 MCAT MDH1 ME2 MLYCD MMUT MRC1 MSLN NT5E OGA OGT PAFAH1B2 PARG PARP1 PDHX PGAM1 PGD PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLAUR PLCD1 PLCD3 PLD1 PNPLA2 PRNP PTEN PTGS2 REG1B REG3G SDC1 SDC2 SIGLEC7 SIRT6 SLC17A5 SLC35F6 SMUG1 SOAT1 SQLE ST6GAL1 VCAM1 VCAN VTCN1	10232 1048 1056 10724 1087 1119 113026 130120 142 1462 1577 1636 1800 2023 2194 2203 2215 2220 2224 2262 23417 23583 2525 2526 2571 2591 2597 26503 27036 27349 2752 28 2813 2817 2821 2876 29071 3037 3098 3099 3161 3417 347527 353 3635 3897 3945 3956 3958 3960 410 4190 4200 4360 4594 4907 501 5049 51363 51548 5223 5226 5230 5290 5291 5293 5294 5315 5329 5333 5337 54947 54978 5621 56913 57016 57104 57126 57214 5728 5743 5968 6382 6383 64083 64781 6480 6646 6713 7412 79679 8050 811 8473 8505 8692 9365 952 960 98	Homo sapiens (human)
DOID:0050820	atrioventricular block Aliases: AV block	ACADVL ACE AGXT APRT ARSD CACNA2D1 CALR GLA MTM1 PKD2 SMUG1	1636 189 23583 2717 353 37 414 4534 5311 781 811	Homo sapiens (human)
DOID:0050827	rheumatic heart disease Aliases: rheumatic carditis	CD209 GAPDH	2597 30835	Homo sapiens (human)
DOID:0050830	peripheral artery disease	ABO ACE ACOD1 ACSS2 ADIPOQ ALDH7A1 ARSA CD14 CHI3L1 CNTN3 CS CYP1A2 CYP2B6 ENPP1 IL1RL1 LGALS3 LIPC LPL NPY1R PCYT1A PLA2G15 PLA2G7 PTGS1 PTGS2 SELP SFTPD SLC2A10 SRD5A1 SRD5A2 SULT1E1 UGDH UGT1A1 VCAM1	1116 1431 1544 1555 1636 23659 28 3958 3990 4023 410 4886 501 5067 5130 5167 54658 55902 5742 5743 6403 6441 6715 6716 6783 730249 7358 7412 7941 81031 9173 929 9370	Homo sapiens (human)
DOID:0050833	orotic aciduria	UMPS	7372	Homo sapiens (human)
DOID:0050834	CHARGE syndrome Aliases: CHARGE association	GALNT3 TP53	2591 7157	Homo sapiens (human)
DOID:0050835	generalized dystonia Aliases: familial dystonia fragments of torsion dystonia	ALDH5A1 ARSG CYP2U1 DBT DPEP1 ECHS1 GAD1 GCDH GLB1 GPI HIBCH MECR PDHA1 PLA2G6 SCP2 SLC39A8 SMUG1 SUCLA2	113612 1629 1800 1892 22901 23583 2571 26275 2639 2720 2821 51102 5160 6342 64116 7915 8398 8803	Homo sapiens (human)
DOID:0050836	focal dystonia	ALDH5A1 ARSG PLA2G6	22901 7915 8398	Homo sapiens (human)
DOID:0050841	focal hand dystonia Aliases: organic writer's cramp	ALDH5A1 AMT ARSG ASAH1 ATP6V1A CERS1 CLN5 CNTN2 COG8 CYP27A1 CYP2C19 CYP2U1 DBT DHDDS DLAT DPEP1 ECHS1 EPM2A GAD1 GBA1 GCDH GCSH GLB1 GLDC GLYCTK GPI HIBCH HMGCL HPRT1 HSPG2 ISYNA1 MECR MMUT NAGA NEU1 NGLY1 PDHA1 PGAP2 PGAP3 PIGA PIGL PIGN PIGO PIGP PIGQ PIGV PIGW PIGY PIK3C2A PLA2G6 PLB1 PLCB1 POMGNT1 PPT1 PRNP PSAP RFT1 SC5D SCP2 SDHA SDHD SLC39A8 SMUG1 ST3GAL3 ST3GAL5 SUCLA2 SYNJ1	10715 113612 1203 132158 151056 1557 1593 1629 1737 1800 1892 22901 23236 23556 23583 2571 26275 2629 2639 2653 2720 2731 27315 275 2821 284098 3155 3251 3339 427 4594 4668 4758 51102 51227 51477 5160 523 5277 5286 5538 55624 55650 55768 5621 5660 6309 6342 6389 6392 64116 6487 6900 7915 7957 79947 8398 84342 84720 84992 8803 8867 8869 9091 91869 93210 9487	Homo sapiens (human)
DOID:0050847	sleep apnea	ACE ADIPOQ CYP1A2 CYP2J2 ENOSF1 GNE GNPTAB IDS LEPR LGALS3 NANS PTEN PTGS2	10020 1544 1573 1636 3423 3953 3958 54187 55556 5728 5743 79158 9370	Homo sapiens (human)
DOID:0050848	obstructive sleep apnea Aliases: obstructive sleep apnea syndrome	ACE ACSS2 AGRN ALDOA ALOX5 AMY1A AMY1B AMY1C ANXA5 ARSA ATP6AP2 B3GAT1 CEACAM5 CHAT CHI3L1 CHIT1 COMT CSPG4 CYP1A2 CYP2J2 ENOSF1 GAD1 GHRL GNE GNPTAB GPD1 ICAM1 IDS IDUA IL18R1 KL LEP LEPR LGALS3 NANS NGLY1 NT5E PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2G7 PLCB1 PLCB4 PRKAA2 PTEN PTGDS PTGS1 PTGS2 SCD SFTPC SLC17A5 SLC2A4 SLC33A1 SLC35A2 TM7SF2 TNF VCAM1	10020 10159 1048 1103 1116 1118 1312 1464 1544 1573 1636 226 23236 23659 240 2571 26503 27087 276 277 278 2819 308 3383 3423 3425 375790 3952 3953 3958 410 4907 51738 5290 5291 5293 5294 5332 54187 55556 5563 55768 55902 5728 5730 5742 5743 6319 6440 6517 7108 7124 7355 7412 79158 7941 8809 9197 9365	Homo sapiens (human)
DOID:0050850	diabetic encephalopathy	GSK3B	2932	Homo sapiens (human)
DOID:0050851	glomerulosclerosis	ACE PLA2G7	1636 7941	Homo sapiens (human)
DOID:0050852	limb ischemia	CS PTGIS	1431 5740	Homo sapiens (human)
DOID:0050853	chronic venous insufficiency	CAT	847	Homo sapiens (human)

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