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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 **3251 - 3275** of **7942** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:0111146	acquired von Willebrand syndrome Aliases: AVWS	CALR	811	Homo sapiens (human)
DOID:10022	ampulla of Vater benign neoplasm Aliases: tumor of the ampulla of Vater	CALR	811	Homo sapiens (human)
DOID:0050800	cerebral creatine deficiency syndrome 1 Aliases: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 SLC6A8 deficiency creatine transporter deficiency	CALR	811	Homo sapiens (human)
DOID:7428	pineal region germinoma	CALR	811	Homo sapiens (human)
DOID:7442	monoclonal gammopathy of uncertain significance Aliases: MGUS Monoclonal gammopathy of undetermined significance	CANX CD38 CLEC12A COLEC10 ENPP1 FUT4 GPNMB HAS1 KL KLRK1 LPL MAG NCAM1 PARP1 PNP PRSS21 SDC1 TNKS	10457 10584 10942 142 160364 22914 2526 3036 4023 4099 4684 4860 5167 6382 821 8658 9365 952	Homo sapiens (human)
DOID:9669	senile cataract	CAT CD14 EFNA5 G6PD GALK1 GPX1 HPGDS LSS OGG1 PARP1 PLCD3	113026 142 1946 2539 2584 27306 2876 4047 4968 847 929	Homo sapiens (human)
DOID:1210	optic neuritis	CAT CD14 MAG PLA2G2A PLA2G6 RTN4R SDC1	4099 5320 6382 65078 8398 847 929	Homo sapiens (human)
DOID:11650	bronchopulmonary dysplasia Aliases: Bronchopulmonary dysplasia of newborn Chronic lung disease of prematurity Neonatal chronic lung disease Perinatal bronchopulmonary dysplasia Respiratory insufficiency neonatal chronic respiratory disease	CAT CD209 CHI3L1 DAG1 MBL2 SFTPA1 SFTPD TNF TP53	1116 1605 30835 4153 6441 653509 7124 7157 847	Homo sapiens (human)
DOID:3720	extramedullary plasmacytoma Aliases: extraosseous plasmacytoma plasmacytoma, extramedullary	CAT CD38 ICAM1 LPL NCAM1 PCYT1A PIGA PTEN SDC1 SMUG1 SOAT1	23583 3383 4023 4684 5130 5277 5728 6382 6646 847 952	Homo sapiens (human)
DOID:3275	thymoma	CAT CD44 CD74 CLEC14A G6PD GAPDH GPX1 HACD1 HSD17B7 ICAM1 LY75 MICA MSLN PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN PTGES2 PTGES PTGS2 SMUG1 SULT1E1	100507436 10232 142 161198 23583 2539 2597 2876 3383 4065 51478 5290 5291 5293 5294 5716 5728 5743 6783 80142 847 9200 9536 960 972	Homo sapiens (human)
DOID:3284	thymic carcinoma Aliases: Thymoma, malignant malignant Thymoma	CAT CD44 CD74 CLEC14A G6PD GAPDH GPX1 HACD1 HSD17B7 ICAM1 LY75 MICA MSLN PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN PTGES2 PTGES PTGS2 SMUG1 SULT1E1	100507436 10232 142 161198 23583 2539 2597 2876 3383 4065 51478 5290 5291 5293 5294 5716 5728 5743 6783 80142 847 9200 9536 960 972	Homo sapiens (human)
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)
DOID:0111252	vestibular schwannomatosis Aliases: ACN BANF NF2 NF2-related schwannomatosis SWN3 SWNV acoustic neurofibromatosis bilateral acoustic neurinoma bilateral acoustic neurofibromatosis bilateral acoustic schwannomas central neurofibromatosis familial acoustic neuromas neurofibromatosis 2 neurofibromatosis type II schwannomatosis 3	CAT CD44 CYP19A1 CYP2E1 FASN MTAP PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGDS PTGS2 SIRT2 TMEM165	1571 1588 2194 22933 4507 5290 5291 5293 5294 55858 5728 5730 5743 847 960	Homo sapiens (human)
DOID:4959	epidermolysis bullosa dystrophica Aliases: Dystrophic epidermolysis bullosa	CAT CD44 DCN PIK3CA PIK3CB PIK3CD PIK3CG STS	1634 412 5290 5291 5293 5294 847 960	Homo sapiens (human)
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)
DOID:11573	listeriosis Aliases: Infection by Listeria monocytogenes Listeria infection	CAT CD44 OCRL SIRT2 SLC5A1	22933 4952 6523 847 960	Homo sapiens (human)
DOID:4072	duodenum disease Aliases: duodenal disease duodenum disorder	CAT CEACAM5 CEACAM7 CYP2C9 DHRS11 HSD17B7 OGG1 PTEN PTGS2	1048 1087 1559 4968 51478 5728 5743 79154 847	Homo sapiens (human)
DOID:0080217	lysosomal acid lipase deficiency Aliases: LAL deficiency LAL-D	CAT CEL CHIT1 LIPA LIPF NCAM1 SOAT2	1056 1118 3988 4684 8435 847 8513	Homo sapiens (human)
DOID:3265	chronic granulomatous disease Aliases: Bridges-Good syndrome CGD Congenital dysphagocytosis Quie syndrome	CAT CEL CYP27B1 EFNA2 G6PD MGAT2 PARP9 PIK3CD PLB1 PMM2 SLC27A5 SLC35A2	1056 10998 151056 1594 1943 2539 4247 5293 5373 7355 83666 847	Homo sapiens (human)
DOID:0070195	X-linked chronic granulomatous disease Aliases: CDGX X-linked chronic cytochrome b-negative granulomatous disease	CAT CEL G6PD PARP9 PLB1 SLC27A5	1056 10998 151056 2539 83666 847	Homo sapiens (human)
DOID:11446	sciatic neuropathy	CAT CERS2 CYP11A1 CYP17A1 GFRA1 GPX3 GSK3B HSD3B1 ICAM1 KCNJ11 MAG PCNA PPARGC1A REG3G RGMA TLR4 TNF	10891 130120 1583 1586 2674 2878 2932 29956 3283 3383 3767 4099 5111 56963 7099 7124 847	Homo sapiens (human)
DOID:12043	kernicterus due to isoimmunization	CAT CHAT G6PD UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8	1103 2539 54575 54576 54577 54578 54657 54658 847	Homo sapiens (human)
DOID:2382	kernicterus Aliases: bilirubin encephalopathy	CAT CHAT G6PD UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8	1103 2539 54575 54576 54577 54578 54657 54658 847	Homo sapiens (human)
DOID:10323	byssinosis Aliases: Flax-dressers' disease Stripper's asthma cotton mill fever	CAT CHI3L1 CYP2E1 HPGDS KLRK1 MSLN SFTPD	10232 1116 1571 22914 27306 6441 847	Homo sapiens (human)
DOID:9201	lichen planus Aliases: Lichen, ruber planus lichen ruber planus	CAT CHI3L1 PTGS2 VCAM1	1116 5743 7412 847	Homo sapiens (human)

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