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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **951 - 975** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0110342	osteogenesis imperfecta type 13 Aliases: OI13 osteogenesis imperfecta type XIII	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0050726	tyrosinemia type I Aliases: hepatorenal tyrosinemia	ACAT1 IDUA OGG1	3425 38 4968	Homo sapiens (human)
DOID:4239	alveolar soft part sarcoma	CD38 COG8 TMED6	146456 84342 952	Homo sapiens (human)
DOID:0070027	CST3-related cerebral amyloid angiopathy Aliases: Amyloidosis VI Amyloidosis, Cerebroarterial, Icelandic Type Cerebral Hemorrhage, Hereditary, with Amyloidosis, Icelandic Variant HCHWA Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant	SDC2	6383	Homo sapiens (human)
DOID:0060715	autosomal recessive congenital ichthyosis 6 Aliases: ARCI6	ALDH3A2 ALOX12B CERS3 COG7 GBA1 STS SULT2B1	204219 224 242 2629 412 6820 91949	Homo sapiens (human)
DOID:520	aortic disease Aliases: aortic disorder disorder of the aorta	CAT PTDSS1 SULT1E1 VCAM1	6783 7412 847 9791	Homo sapiens (human)
DOID:10480	diaphragmatic eventration	MTM1 PIK3CA PLOD3	4534 5290 8985	Homo sapiens (human)
DOID:573	nerve compression syndrome Aliases: Compression neuropathy entrapment neuropathy peripheral nerve entrapment syndrome	MAG	4099	Homo sapiens (human)
DOID:8443	brachial plexus lesion Aliases: Brachial plexus lesions	SMUG1	23583	Homo sapiens (human)
DOID:13100	intracranial vasospasm	ABO ACSM3 PTGS1	28 5742 6296	Homo sapiens (human)
DOID:0081376	obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy	SORD	6652	Homo sapiens (human)
DOID:0060463	NUT midline carcinoma Aliases: nuclear protein in testis midline carcinoma	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:0112313	brain small vessel disease	NR1D1 SELP	6403 9572	Homo sapiens (human)
DOID:8675	obsolete ymphosarcoma	ABO ACAA1 ACACA ACACB ACE ACHE ACOX1 ACSBG1 ACSF3 AKR1A1 AKR1C1 AKR1C3 ALG1 ALOX12 ALPI ALPP AMACR AMT ANXA5 APRT ATRNL1 CALR CAT CD14 CD1D CD22 CD33 CD38 CD44 CD48 CD55 CD74 CDH13 CDS1 CEACAM5 CEL CFC1 CHI3L1 CHPT1 CLEC10A CNTN2 COMT CS CSPG4 CYP17A1 CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 CYP3A4 DHDDS ENO2 ENOSF1 EPHX2 EPM2A FASN FBP1 FCER2 FCGR3B FCN2 FH FMOD FUT1 G6PD GAPDH GBA1 GBE1 GCSH GFRA1 GGT1 GLB1 GLDC GPC5 GPI GPX1 H6PD HACD1 HEXA HK2 HMMR HPGDS HPRT1 HPSE HYAL2 ICAM1 IDH1 IDH2 IDUA IL1R1 IL1RAPL1 IL1RL1 INPP4B INPP5D ISYNA1 ITPKB KDSR KL KLRC1 KLRD1 KLRK1 LDHA LGALS1 LGALS3 LGALS9 LY6G6D LY6K LYPD5 LYZ MASP2 MBL2 MCAT MLYCD MRC1 MTAP NAMPT NCAM1 NDUFAB1 NTHL1 OGG1 OPCML PAFAH1B1 PARP1 PARP4 PARP9 PC PDHX PGM3 PGP PIGK PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKM PLCG2 PLD2 PLOD3 PNP PPP1R3A PRKAA2 PSMD10 PTEN PTGDS PTGES PTGS2 RTN4R SDC1 SELE SELL SHMT1 SHMT2 SIGLEC10 SIRT4 SLC27A5 SLC2A2 SLC2A3 SLC2A4 SLC35A2 SLC35B2 SMC3 SMUG1 SOAT1 SPHK1 SPHK2 ST6GALNAC5 STS SULT1E1 TIGAR TKTL1 TMEM260 TMTC3 TNFRSF10C UNG VCAM1 VNN1 VTCN1	10026 1012 10135 10327 1040 10462 1048 1056 10747 10855 10998 11141 1116 1312 142 143 1431 1464 1543 1545 1555 1559 1571 1576 1586 1591 1594 1604 160418 1636 1645 197322 200576 2026 2053 2194 2203 2208 2215 2220 2262 2271 22914 23205 2331 23409 23417 23583 23600 239 248 250 2523 2531 2539 2597 26033 2629 2632 2653 2674 2678 2720 27306 2731 27349 275 28 2821 283871 284348 2876 30 3073 308 3099 31 3161 32 3251 3383 3417 3418 3425 347734 353 3554 3635 3707 3821 3824 3939 3956 3958 3965 4069 412 4153 43 4360 4507 4684 4706 4860 4913 4968 4978 5048 5091 51 51477 5238 5290 5291 5293 5294 5315 5336 5338 54742 54916 5506 55556 5563 55997 56052 56848 56994 57103 5716 5728 5730 5743 58530 6382 6401 6402 6470 6472 65078 6514 6515 6517 6646 6783 6900 7355 7374 7412 7957 79679 79947 8050 811 81849 8277 83666 847 8644 8692 8794 8821 8876 8877 89790 8985 912 9126 9173 9200 929 933 9365 945 952 9536 9563 960 962 972	Homo sapiens (human)
DOID:234	colon adenocarcinoma Aliases: Colonic adenocarcinoma adenocarcinoma of colon	ACSL4 AKR1B1 ANXA7 ARSA CD44 CEACAM5 CEACAM7 CYP1A1 CYP24A1 CYP3A4 DHRS11 DLD FUT10 FUT2 FUT3 FUT4 GALNT6 HSD17B7 LDHA LGALS3 LGALS4 MUTYH PGP PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLAUR PLB1 PLCB1 PLD2 PTGS2 SDC2 SLC2A5 SLC5A1 SOAT1 ST6GAL1 SULT1E1 TM7SF2 UGT1A1	1048 1087 11226 151056 1543 1576 1591 1738 2182 231 23236 2524 2525 2526 283871 310 3939 3958 3960 410 4595 51478 5290 5291 5293 5294 5320 5329 5338 54658 5743 6383 6480 6518 6523 6646 6783 7108 79154 8399 84750 960	Homo sapiens (human)
DOID:3962	thyroid gland follicular carcinoma Aliases: Follicular adenocarcinoma Follicular adenocarcinoma, well differentiated Follicular carcinoma Thyroid adenocarcinoma follicular thyroid carcinoma	ACACA ACE CD44 CEACAM5 CYP24A1 CYP27B1 CYP2R1 DPEP1 ENPP2 GPC3 ICAM1 IDH1 IDH2 KL KLB LGALS3 MINPP1 NCAM1 NTHL1 OGG1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGES3 PTGS2 QPRT SDHB SDHC SDHD SLC2A3 SPHK1 ST6GAL2 ST6GALNAC2 ST6GALNAC4 ST8SIA4 STT3A	1048 10610 10728 120227 152831 1591 1594 1636 1800 23475 27090 2719 31 3383 3417 3418 3703 3958 4684 4913 4968 5168 5290 5291 5293 5294 5728 5743 6390 6391 6392 6515 7903 84620 8877 9365 9562 960	Homo sapiens (human)
DOID:3132	porphyria cutanea tarda	CYP1A1 CYP1A2 CYP2E1 HJV HPGDS HPSE KL PTEN SOAT1	10855 148738 1543 1544 1571 27306 5728 6646 9365	Homo sapiens (human)
DOID:252	alcoholic psychosis Aliases: Alcoholic psychoses	HTR2A	3356	Homo sapiens (human)
DOID:0110796	hereditary spastic paraplegia 44 Aliases: SPG44 autosomal recessive spastic paraplegia 44	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:0050568	spondylocostal dysostosis Aliases: Jarcho-Levin syndrome costovertebral dysplasia spondylothoracic dysostosis spondylothoracic dysplasia	LFNG SLC35A3	23443 3955	Homo sapiens (human)
DOID:0112361	spondylocostal dysostosis 3 Aliases: SCDO3 autosomal recessive spondylocostal dysostosis 3	LFNG	3955	Homo sapiens (human)
DOID:0060670	cerebral cavernous malformation 2	SMUG1	23583	Homo sapiens (human)
DOID:2383	neonatal jaundice Aliases: neonatal hyperbilirubinemia neonatal icterus	ABO CAT FBP1 G6PD GALT GGT1 GPI GPX1 HK1 HPGDS SLC35A2 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	2203 2539 2592 2678 27306 28 2821 2876 3098 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 7355 847	Homo sapiens (human)
DOID:10461	dentin caries Aliases: Compound dental caries Dental caries extending into dentine	ACE AGA ALOX15 ALPL ATP6V0A2 ATP6V1A CALR CD14 COG6 COMT DAG1 FCN2 GALK2 GALNS GLB1 GLUL IDUA ITPKB LYZL2 MBL2 MTM1 MTMR3 OCRL PIGA PLA2G6 PSAP PTEN SGMS2 SLC2A2 SLC2A4 SRGN TMTC3	119180 1312 160418 1605 1636 166929 175 2220 23545 246 249 2585 2588 2720 2752 3425 3707 4153 4534 4952 523 5277 5552 5660 5728 57511 6514 6517 811 8398 8897 929	Homo sapiens (human)
DOID:3869	childhood medulloblastoma Aliases: pediatric Medulloblastoma	ACHE ALOX5 APRT ASAH1 CALR CANX CD1D CHPT1 COL9A2 CYP1A1 CYP1B1 CYP2B6 CYP3A5 DAG1 DHDDS EFNA5 FOLR1 FUT4 GPC3 GYS2 HK2 HPGDS HPSE IDH1 IDH2 IDUA INPP5E LDHA LDHB MMUT NT5E PAFAH1B1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKM POMGNT1 PTEN PTGDS PTGS2 SDC1 SIGLEC7 SULT1E1 TDG TNKS TREH VCAN	10855 11181 1298 142 1462 1543 1545 1555 1577 1605 1946 2348 240 2526 27036 2719 27306 2998 3099 3417 3418 3425 353 3939 3945 427 43 4594 4907 5048 5130 5290 5291 5293 5294 5315 55624 56623 56994 5728 5730 5743 6382 6783 6996 79947 811 821 8658 912	Homo sapiens (human)

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