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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 **3126 - 3150** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:1148	polydactyly Aliases: postaxial polydactyly	ACHE DHCR7 EBP GPC3 HADHB INPP5E PIGX PIK3CA PNPLA6 PTEN SC5D UMOD	10682 10908 1717 2719 3032 43 5290 54965 56623 5728 6309 7369	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0050997	cerebellar ataxia, mental retardation and dysequlibrium syndrome Aliases: CAMRQ Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1) Uner Tan syndrome VLDLR Cerebellar Hypoplasia	ADH1C HPGDS HSD11B1 PKD2 PRKCSH SFTPC	126 27306 3290 5311 5589 6440	Homo sapiens (human)	DisGeNET DisGeNET
DOID:5667	sweat gland carcinoma Aliases: carcinoma of the Sweat gland	CEACAM5 SMUG1	1048 23583	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060167	seasonal affective disorder Aliases: winter depression	ACE AMY1A AMY1B AMY1C COMT GAD1	1312 1636 2571 276 277 278	Homo sapiens (human)	DisGeNET
DOID:2476	hereditary spastic paraplegia Aliases: French settlement disease Strumpell-Lorrain disease familial spastic paraplegia hereditary spastic paraparesis	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM L2HGDH MAG PCYT2 PLA2G6 PNPLA6 PNPLA7 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 375775 3897 4099 51302 57704 5833 79944 8398 84188 85465 8869 9197 9420	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:3463	breast disease	CYP11A1 CYP17A1 HSD17B1 PTEN PTGES	1583 1586 3292 5728 9536	Homo sapiens (human)	DisGeNET
DOID:3973	thyroid gland medullary carcinoma Aliases: Medullary carcinoma of the Thyroid gland Ultimobranchial thyroid tumor Ultimobranchial thyroid tumour medullary thyroid carcinoma	APRT CBR1 CEACAM5 CEACAM7 CHGA CHPT1 CYP1A2 DHDDS FCN2 FUT4 G6PD GFRA1 GLB1 HK2 ICAM1 MCAT MRC1 NTM PIK3CA PIK3CB PIK3CD PIK3CG PNP PTGS1 PTGS2 RPIA SDHB SDHC SDHD SHMT1 SMUG1 SOAT1 SORD TYMP	1048 1087 1113 1544 1890 2220 22934 23583 2526 2539 2674 2720 27349 3099 3383 353 4360 4860 50863 5290 5291 5293 5294 56994 5742 5743 6390 6391 6392 6470 6646 6652 79947 873	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0080537	hypermanganesemia with dystonia 2	SLC39A14	23516	Homo sapiens (human)	Alliance of Genome Resources
DOID:13922	eosinophilic esophagitis	AGA AGXT ALOX15 ALOX5 ANXA5 CD1D CD44 CHIA CLC CLEC16A CYP2C19 ICAM1 IL18R1 IL1RL1 LALBA LCT LTC4S MPG OGDHL PRG2 PTGS2 SGSH SIGLEC8 SOAT1 VCAM1	1178 1557 175 189 23274 240 246 27159 27181 308 3383 3906 3938 4056 4350 5553 55753 5743 6448 6646 7412 8809 912 9173 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060587	Noonan syndrome 9 Aliases: NS9	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)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:1271	capillary disease Aliases: disease of capillaries	ACE CEACAM5 DGKE DPM1 PEMT PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY PIK3CA PIK3CB PIK3CD PIK3CG PTEN SELE TALDO1	10400 1048 1636 27315 284098 5290 5291 5293 5294 55650 5728 6401 6888 84720 84992 8526 8813 93210 9487	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:7910	maxillary sinus squamous cell carcinoma Aliases: Epidermoid carcinoma of the Maxillofacial sinus	LDHB MICA PNP	100507436 3945 4860	Homo sapiens (human)	DisGeNET
DOID:3029	colon mucinous adenocarcinoma Aliases: Colonic mucinous adenocarcinoma	CHST4	10164	Homo sapiens (human)	DisGeNET
DOID:13918	somatization disorder Aliases: Briquet's disorder Somatisation disorder	ACE COMT	1312 1636	Homo sapiens (human)	DisGeNET
DOID:9432	renal glycosuria Aliases: renal diabetes	DCXR SLC2A2 SLC5A1 SLC5A2	51181 6514 6523 6524	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:3534	Lafora disease Aliases: Lafora Progressive Myoclonic Epilepsy Lafora's disease MYOCLONIC EPILEPSY OF LAFORA	ACHE CHI3L1 CLN5 EPM2A GBA1 GLUL GYG1 GYS1 GYS2 NHLRC1 PFKL PPP1R3B PTEN	1116 1203 2629 2752 2992 2997 2998 378884 43 5211 5728 7957 79660	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110229	cataract 6 multiple types Aliases: CTRCT6	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)	DisGeNET
DOID:3343	glycoproteinosis Aliases: Mucolipidosis type I sialidosis	APRT CALR CHIT1 CTSA CYP21A2 DHCR7 DPAGT1 FUCA2 GLB1 GNPTAB GNPTG GUSB HEXA HPRT1 IDS IDUA IGF2R NAGPA NEU1 OGA PLCD1 PLCG1	10724 1118 1589 1717 1798 2519 2720 2990 3073 3251 3423 3425 3482 353 4758 51172 5333 5335 5476 79158 811 84572	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060688	arteriovenous malformations of the brain Aliases: cerebral arteriovenous malformation intracranial arteriovenous malformation	PCYT1A	5130	Homo sapiens (human)	DisGeNET
DOID:9427	hypertensive encephalopathy	COMT PPARA	1312 5465	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:899	choledochal cyst Aliases: Congenital choledochal cyst bile duct cyst biliary cyst	CD14 SMUG1	23583 929	Homo sapiens (human)	DisGeNET
DOID:0110203	Charcot-Marie-Tooth disease recessive intermediate D Aliases: CMTRID RI-CMT type D autosomal recessive intermediate Charcot-Marie-Tooth disease type D	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 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 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:698	dentin sensitivity Aliases: Sensitive dentin	ISYNA1 NDUFAB1	4706 51477	Homo sapiens (human)	DisGeNET
DOID:0080250	erythrokeratodermia variabilis et progressiva 4	KDSR	2531	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0070212	hereditary lymphedema I Aliases: LMPH1 Milroy disease Nonne-Milroy lymphedema PCL congenital primary lymphedema hereditary lymphedema type I	AKR1B1 NCAM1 PTEN SMUG1	231 23583 4684 5728	Homo sapiens (human)	DisGeNET

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