GlyCosmos Portal

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

Displaying entries **4701 - 4725** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:2303	stereotypic movement disorder Aliases: Stereotyped repetitive movements Stereotypy habit disorder	B3GALNT2 CHAT EXT2 GAD1 HGSNAT LMAN2L MAN1B1 MBOAT7 MGAT2 NDST1 OCRL PGAP1 PIGC ST3GAL3 ST3GAL5 TECR TKT TUSC3	1103 11253 138050 148789 2132 2571 3340 4247 4952 5279 6487 7086 79143 7991 80055 81562 8869 9524	Homo sapiens (human)
DOID:0111352	D-2-hydroxyglutaric aciduria 2 Aliases: D2HGA2	IDH2	3418	Homo sapiens (human)
DOID:1485	cystic fibrosis Aliases: CF mucoviscidosis	Edem2 Tl	34714 43222	Drosophila melanogaster (fruit fly)
DOID:2433	epidermal appendage tumor Aliases: neoplasm of skin with adnexal differentiation neoplasm of the skin Appendage skin appendage tumour	ACACA	31	Homo sapiens (human)
DOID:13241	Behcet's disease Aliases: Adamantiades-Behcet disease Behcet syndrome Behet's syndrome triple symptom complex	Adipoq Tlr2 Tlr4 Tnf	11450 21898 21926 24088	Mus musculus (house mouse)
DOID:3525	middle cerebral artery infarction	ACACA ACE AGXT ALDH2 ALOX5 BAD BCAN CAT CD14 CHAT CHI3L1 CYP19A1 CYP2C8 CYP2E1 CYP2J2 ENO1 EPHX2 G6PD GAD1 GAD2 GAPDH GHRL GLUL GSK3B HAS2 HJV HK2 HPRT1 ICAM1 KL LDHA LGALS3 LPIN1 LYPD5 MAG MGLL NAMPT NCAM1 OGG1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLD1 PRKAA2 PTEN PTGS2 RGMA RGMB SFTPD SIRT2 SLC2A1 SLC2A3 SLC5A1 SMUG1 SPHK2 STS TM7SF2 TNF UMOD UPP1	10135 1103 1116 11343 142 148738 1558 1571 1573 1588 1636 189 2023 2053 217 22933 23175 23583 240 2539 2571 2572 2597 2752 284348 285704 2932 3037 3099 31 3251 3383 3939 3958 4099 412 4684 4968 51738 5290 5291 5293 5294 5321 5337 5563 56848 56963 572 5728 5743 63827 6441 6513 6515 6523 7108 7124 7369 7378 847 929 9365	Homo sapiens (human)
DOID:0080575	Larsen-like syndrome B3GAT3 type Aliases: Larsen-like syndrome, B3GAT3 type multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome	b3gat3.L	398597	Xenopus laevis (African clawed frog)
DOID:679	basal ganglia disease	DLAT GAD1 GAD2 GCDH GLDC GLUL HPRT1 MMUT PDHA1 PIGN PIGP PIGQ PLA2G1B PLA2G2A PLA2G6 PLB1 ST8SIA3	151056 1737 23556 2571 2572 2639 2731 2752 3251 4594 51046 51227 5160 5319 5320 8398 9091	Homo sapiens (human)
DOID:0112347	hereditary spastic paraplegia 84 Aliases: SPG84 spastic paraplegia 84 autosomal recessive	PI4KA	5297	Homo sapiens (human)
DOID:3179	inverted papilloma Aliases: Inverted papilloma, squamous cell	PIK3CA PIK3CD PIK3CG PTEN	5290 5293 5294 5728	Homo sapiens (human)
DOID:0090075	hypogonadotropic hypogonadism 15 with or without anosmia	hs6st1.L hs6st1.S	108717161 373566	Xenopus laevis (African clawed frog)
DOID:4137	common bile duct disease	SLC25A12 SLC25A13	10165 8604	Homo sapiens (human)
DOID:0060185	Clostridium difficile colitis Aliases: Pseudomembranous colitis	ABO ACACB ACE ACHE ACSBG1 AGA AKR1B1 ARSA CAT CD14 CEACAM6 CHGA COMT CYP2B6 CYP4F3 FCN1 GLB1 GLUL GM2A HSD11B1 HSD11B2 ICAM1 IL18R1 KLB LCT MBL2 NCAM1 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PTGS2 SELE SELL SFTPC SI SLC26A2	1113 1312 152831 1555 1636 175 1836 2219 231 23205 2720 2752 2760 28 2923 32 3290 3291 3383 3938 4051 410 4153 43 4680 4684 5290 5291 5293 5294 5315 5743 6401 6402 6440 6476 847 8809 929	Homo sapiens (human)
DOID:0050834	CHARGE syndrome Aliases: CHARGE association	Tp53	24842	Rattus norvegicus (Norway rat)
DOID:3012	Li-Fraumeni syndrome Aliases: LFS Li-Fraumeni Familiar cancer Susceptibility syndrome SBLA syndrome sarcoma, breast, leukaemia and adrenal gland syndrome	Trp53	22059	Mus musculus (house mouse)
DOID:2256	osteochondrodysplasia Aliases: Cartilage Development disorder Congenital anomaly of cartilage Osteochondrodysplasia syndrome chondrodystrophy skeletal dysplasia	chst3	100492673	Xenopus tropicalis (tropical clawed frog)
DOID:9839	accommodative esotropia	ELOVL6	79071	Homo sapiens (human)
DOID:0111350	Laurin-Sandrow syndrome Aliases: MIPduplication of fibuland ulna with absence of tibia and radius Sandrow syndrome TMIP miccor hands and feet with nasal defects mirror hands and feets-nasal defects syndrome mirror-image polydactyly tetramelic mirror-image polydactyly	AGXT COL9A2	1298 189	Homo sapiens (human)
DOID:0014667	disease of metabolism Aliases: metabolic disease	Ins1 Ins2 Ldha Pdha1 Pdha2 Pfkl Pfkm Pfkp Pkm	16333 16334 16828 18597 18598 18641 18642 18746 56421	Mus musculus (house mouse)
DOID:14089	root caries Aliases: Cementum caries Dental caries of root surface	NDUFAB1	4706	Homo sapiens (human)
DOID:3744	cervical squamous cell carcinoma Aliases: squamous cell carcinoma of cervix squamous cell carcinoma of the Cervix Uteri	Tp53 Tymp	24842 315219	Rattus norvegicus (Norway rat)
DOID:3315	lipoma Aliases: Lipomatous neoplasm Lipomatous tumor benign lipomatous tumor benign tumor of Adipose tissue tumor of adipose tissue	ACAN ALPP AMACR ATRNL1 BAAT CPM DCN PIK3CA PTEN PYGM SDHB SDHC SDHD SIRT6 SMUG1	1368 1634 176 23583 23600 250 26033 51548 5290 570 5728 5837 6390 6391 6392	Homo sapiens (human)
DOID:0111108	maturity-onset diabetes of the young type 10 Aliases: MODY10	Ins1 Ins2	16333 16334	Mus musculus (house mouse)
DOID:684	hepatocellular carcinoma Aliases: Hepatoma	ADE4 APT1 APT2 GCY1 IDP2 IDP3 SMC3 YBR053C YDC1 YPC1 YPR1 ZWF1	850871 851974 852051 852342 852481 853371 854287 854986 855346 855480 855723 856018	Saccharomyces cerevisiae S288C
DOID:0060643	primary sclerosing cholangitis	Tnf	21926	Mus musculus (house mouse)

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