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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 **3476 - 3500** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0060642	recessive dystrophic epidermolysis bullosa Aliases: RDEB, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa generalisata gravis autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type	CAT CD44 DCN PIK3CA PIK3CB PIK3CD PIK3CG STS	1634 412 5290 5291 5293 5294 847 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0112275	developmental and epileptic encephalopathy 93 Aliases: DEE93 IECEE3 infantile or early childhood epileptic encephalopathy 3	ATP6V1A	523	Homo sapiens (human)	Alliance of Genome Resources
DOID:14174	central neurocytoma Aliases: Neurolipocytoma	IDH1	3417	Homo sapiens (human)	DisGeNET
DOID:3652	Leigh disease Aliases: Infantile necrotizing encephalomyelopathy Leigh syndrome juvenile subacute necrotizing encephalomyelopathy	DLD ECHS1 GYG2 HIBCH HSD17B6 MRC1 OGDH PDHA1 PDHB PDHX PGD PTGS1 SDHA SDHB SDHC SLC39A8 SUCLA2 SUCLG1 TKT TYMP	1738 1890 1892 26275 4360 4967 5160 5162 5226 5742 6389 6390 6391 64116 7086 8050 8630 8802 8803 8908	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050175	tick-borne encephalitis Aliases: Central European encephalitis Far Eastern TBE Russian spring-summer encephalitis Siberian tick-borne encephalitis Taiga encephalitis Western European tick-borne encephalitis west-Siberian encephalitis	CD209 CD48 ENO2 STS	2026 30835 412 962	Homo sapiens (human)	DisGeNET
DOID:204	enthesopathy	ACLY ADH1B CALR CD14 CD22 CD44 ENPP1 FMOD FOLR2 HSPG2 KL KLRC1 KLRD1 LGALS8 NT5E PTGS2 SELL VCAM1	125 2331 2350 3339 3821 3824 3964 47 4907 5167 5743 6402 7412 811 929 933 9365 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060449	gelatinous drop-like corneal dystrophy Aliases: GDCD corneal amyloidosis primary familial amyloidosis of the cornea subepithelial amyloidosis of the cornea	GGT1	2678	Homo sapiens (human)	DisGeNET
DOID:11561	hypertensive retinopathy	DLD DLST FH HSD11B2 MDH2 SDHA SDHB SDHC SDHD	1738 1743 2271 3291 4191 6389 6390 6391 6392	Homo sapiens (human)	DisGeNET
DOID:0110206	Charcot-Marie-Tooth disease dominant intermediate F Aliases: CMTDIF autosomal dominant intermediate Charcot-Marie-Tooth disease type F	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:782	renal infectious disease	ACE CYP2C9 DCN GLA HSPG2 MMUT PKM PLA2R1 SDC1 SDC2 SFTPD SLC3A1 TM7SF2 UMOD	1559 1634 1636 22925 2717 3339 4594 5315 6382 6383 6441 6519 7108 7369	Homo sapiens (human)	DisGeNET DisGeNET
DOID:4347	lymphocele Aliases: Lymph cyst	ABO	28	Homo sapiens (human)	DisGeNET
DOID:2364	post-thrombotic syndrome Aliases: Postphlebetic syndrome with inflammation Postphlebetic syndrome with ulcer Postphlebetic syndrome with ulcer and inflammation postphlebitic syndrome venous stress disorder	ABO	28	Homo sapiens (human)	DisGeNET
DOID:0112303	spondylometaphyseal dysplasia with corneal dystrophy Aliases: SMDCD	PLCB3	5331	Homo sapiens (human)	Alliance of Genome Resources
DOID:8466	retinal degeneration Aliases: degeneration of retina	ATP6V1A CLN5 CS DHDDS GNPTAB MAN2B1 PDHA1 PDHA2 PKD2 PLCB4 PNPLA6 POMGNT1 POMK SUMF1 SYNJ1	10908 1203 1431 285362 4125 5160 5161 523 5311 5332 55624 79158 79947 84197 8867	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:8956	cowpox Aliases: yaba	ABO CYB5R3 FCN2 IL18R1	1727 2220 28 8809	Homo sapiens (human)	DisGeNET
DOID:874	bacterial pneumonia Aliases: Pneumonia due to other gram-negative bacteria gram-negative pneumonia	CAT CD44 CHI3L1 CYP2J2 IL1RL1 MBL2 NAMPT SFTPA1 SFTPA2 SFTPC SFTPD TLR2 TLR6 TNF	10135 10333 1116 1573 4153 6440 6441 653509 7097 7124 729238 847 9173 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:4972	myelodysplastic/myeloproliferative neoplasm Aliases: Myeloproliferative/Myelodysplastic syndromes myelodysplastic myeloproliferative cancer	NCAM1 PAFAH1B1	4684 5048	Homo sapiens (human)	DisGeNET
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)	DisGeNET
DOID:2217	Bernard-Soulier syndrome Aliases: Bernard - Soulier thrombopathy Bernard Soulier syndrome Giant platelet syndrome Hemorrhagic dystrophic thrombocytopenia Thrombopathy, Bernard-Soulier	LGALS8 PRNP XYLT1	3964 5621 64131	Homo sapiens (human)	DisGeNET
DOID:0080489	GM1 gangliosidosis type 3 Aliases: adult-onset GM1 gangliosidosis	GLB1	2720	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:0110580	autosomal dominant nonsyndromic deafness 54 Aliases: DFNA54 autosomal dominant deafness 54	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)	DisGeNET
DOID:9042	polyp of corpus uteri Aliases: endometrial/uterine polyp polyp of Endometrium polyp of the Uterus polyp, uterus	CYP19A1 PTEN PTGS2 SDC1	1588 5728 5743 6382	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0090043	dystonia 5	ALDH5A1	7915	Homo sapiens (human)	DisGeNET
DOID:3086	gingival overgrowth Aliases: Gingival enlargement	AGA CYP2C9 DHCR24 GLB1 GUSB IDUA MAN2B1 MGAT2 PIGA PIGN PIGS SC5D SLC17A5	1559 1718 175 23556 26503 2720 2990 3425 4125 4247 5277 6309 94005	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0050117	disease by infectious agent Aliases: infectious disease	MBL2	4153	Homo sapiens (human)	Alliance of Genome Resources

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