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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 **6326 - 6350** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0060169	benign familial infantile epilepsy Aliases: BFIC BFIE benign familial infantile convulsion benign familial infantile seizures	GALE	2582	Homo sapiens (human)	DisGeNET
DOID:14777	benign familial neonatal epilepsy Aliases: familial neonatal seizures	GALE	2582	Homo sapiens (human)	DisGeNET
DOID:0110390	retinitis pigmentosa 1 Aliases: RP1	KL PTEN	5728 9365	Homo sapiens (human)	DisGeNET
DOID:0070077	schizophrenia 1 Aliases: SCZD1	SULT1E1	6783	Homo sapiens (human)	DisGeNET
DOID:0080153	medium chain acyl-CoA dehydrogenase deficiency	ACADM ACADS ARSA CPT1A CPT2 SLC17A5	1374 1376 26503 34 35 410	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110915	childhood hypophosphatasia	ALPL	249	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:14773	cartilage-hair hypoplasia Aliases: CHH McKusick type metaphyseal chondrodysplasia Metaphyseal chondrodysplasia, McKusick type	CAT CYP3A4 EBP HS6ST1 KLB	10682 152831 1576 847 9394	Homo sapiens (human)	DisGeNET
DOID:0080156	X-linked adrenal hypoplasia congenita Aliases: congenital adrenal hypoplasia	AKR1B1 ALDH3A2 CHAT CYP11A1 CYP11B1 GK ICAM1 IL1RAP IL1RAPL1	1103 11141 1583 1584 224 231 2710 3383 3556	Homo sapiens (human)	DisGeNET DisGeNET
DOID:9267	urea cycle disorder Aliases: disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia disorder of urea cycle metabolism urea cycle defect	ACADL ACADM ACADVL ACAT1 AMT CAT CPT1A CPT2 CYP2C9 DLD GCK GCSH GLUL HADH HADHA HADHB HMGCL MMUT OGDH PC PCCA PCCB	1374 1376 1559 1738 2645 2653 275 2752 3030 3032 3033 3155 33 34 37 38 4594 4967 5091 5095 5096 847	Homo sapiens (human)	DisGeNET
DOID:11202	primary hyperparathyroidism Aliases: familial primary hyperparathyroidism	ACE ALPP APRT ATRNL1 CYP19A1 KL MCAT PTGS2 SDHC	1588 1636 250 26033 27349 353 5743 6391 9365	Homo sapiens (human)	DisGeNET DisGeNET
DOID:349	systemic mastocytosis Aliases: SMCD - systemic mast cell disease systemic tissue mast cell disease	CALR CD33 CD38 CEL ETNK1 FCER2 FH SMPD1	1056 2208 2271 55500 6609 811 945 952	Homo sapiens (human)	DisGeNET
DOID:5339	cyclic hematopoiesis Aliases: Cyclic neutropenia Cyclical neutropenia Neutropenia, periodic cyclic agranulocytosis	CALR G6PC3 IL1R1 PNP PRKAA2 PTGS2 SLC35A2	3554 4860 5563 5743 7355 811 92579	Homo sapiens (human)	DisGeNET
DOID:14177	congenital hypogammaglobulinemia Aliases: Congenital hypogammaglobulinaemia	CD14 FCER2 FCGR3B GLA NT5E PIK3CA PIK3CB PIK3CD PIK3CG	2208 2215 2717 4907 5290 5291 5293 5294 929	Homo sapiens (human)	DisGeNET
DOID:14179	X-linked agammaglobulinemia Aliases: BTK deficiency Bruton agammaglobulinemia tyrosine kinase deficiency Bruton disease Bruton's Sex-Linked Agammaglobulinemia Bruton's agammaglobulinaemia Bruton's type agammaglobulinemia Bruton-type agammaglobulinemia	CD14 FCER2 FCGR3B GLA NT5E PIK3CA PIK3CB PIK3CD PIK3CG	2208 2215 2717 4907 5290 5291 5293 5294 929	Homo sapiens (human)	DisGeNET
DOID:6712	anterior spinal artery syndrome Aliases: Anterior spinal artery occlusion syndrome	ARSA	410	Homo sapiens (human)	DisGeNET
DOID:9478	postpartum depression Aliases: Maternity blues postnatal depression	ABO ACOT7 HSD11B1 MPI STS	11332 28 3290 412 4351	Homo sapiens (human)	DisGeNET DisGeNET
DOID:4783	mesangial proliferative glomerulonephritis	ALOX5 DCN PIK3CA PIK3CB PIK3CD PIK3CG PKD1	1634 240 5290 5291 5293 5294 5310	Homo sapiens (human)	DisGeNET
DOID:4776	rapidly progressive glomerulonephritis	ABO ACE CD44 DCN FCGR3B ICAM1 MRC1 VCAM1	1634 1636 2215 28 3383 4360 7412 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:13139	crescentic glomerulonephritis	ABO ACE CD44 DCN FCGR3B ICAM1 MRC1 VCAM1	1634 1636 2215 28 3383 4360 7412 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060652	familial erythrocytosis 1 Aliases: ECYT1 autosomal dominant benign erythrocytosis primary familial and congenital polycythemia	CD177 PKLR	5313 57126	Homo sapiens (human)	DisGeNET DisGeNET
DOID:12265	chronic salpingo-oophoritis Aliases: chronic salpingitis and oophoritis chronic salpingitis/oophoritis	MSLN	10232	Homo sapiens (human)	DisGeNET
DOID:8200	tertiary syphilis Aliases: late syphilis	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:9988	tertiary neurosyphilis Aliases: late neurosyphilis	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:7004	ACTH-secreting pituitary adenoma Aliases: ACTH-Producing Pituitary Adenoma Corticotroph adenoma Corticotropinoma	CD14 CNTN3 CYP11B1 GAPDH HSD11B1 HSD11B2 SMUG1	1584 23583 2597 3290 3291 5067 929	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3946	pituitary-dependent Cushing's disease Aliases: Overproduction of ACTH pituitary-dependent Cushing disease	CD14 CNTN3 CYP11B1 HSD11B1 HSD11B2 SMUG1	1584 23583 3290 3291 5067 929	Homo sapiens (human)	DisGeNET

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