GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3901 - 3925** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:3138	acanthosis nigricans Aliases: keratosis nigricans	FGFR3 SLC2A3 TBC1D4	2261 6515 9882	Homo sapiens (human)	Alliance of Genome Resources
DOID:3144	cutis laxa Aliases: loose skin	ATP7A EFEMP1 EFEMP2 ELN FBLN5 LTBP1 LTBP4	10516 2006 2202 30008 4052 538 8425	Homo sapiens (human)	Alliance of Genome Resources
DOID:3145	hyperlipoproteinemia type III Aliases: Remnant hyperlipidemia carbohydrate induced hyperlipemia familial hypercholesterolaemia with hyperlipaemia familial type 3 hyperlipoproteinemia	APOC3 APOE	345 348	Homo sapiens (human)	Alliance of Genome Resources
DOID:3146	lipid metabolism disorder Aliases: dyslipidemia fatty acid metabolism disorder	APOC2 CPT1A CPT2 DHCR24 FADS2 HADHA HADHB HSD17B4 LEP LPIN1 LPIN2 LPIN3 MAT2A MVK NPY5R PPARA	1374 1376 1718 23175 3030 3032 3295 344 3952 4144 4598 4889 5465 64900 9415 9663	Homo sapiens (human)	Alliance of Genome Resources
DOID:3151	skin squamous cell carcinoma Aliases: Epidermoid skin carcinoma	CTCF DDX5 KNSTRN	10664 1655 90417	Homo sapiens (human)	Alliance of Genome Resources
DOID:3153	lipomatosis Aliases: multiple lipomatosis	CEL	1056	Homo sapiens (human)	Alliance of Genome Resources
DOID:3159	photosensitivity disease Aliases: Photodermatitis	BRD2 ELN	2006 6046	Homo sapiens (human)	Alliance of Genome Resources
DOID:3165	skin benign neoplasm Aliases: neoplasm of skin neoplasm of skin by site skin neoplasm tumor of the skin	HRAS	3265	Homo sapiens (human)	Alliance of Genome Resources
DOID:3168	squamous cell neoplasm Aliases: Epidermoid cell tumor squamous cell tumor	STRAP	11171	Homo sapiens (human)	Alliance of Genome Resources
DOID:3178	skin papilloma Aliases: cutaneous papilloma papilloma of skin	TLR2	7097	Homo sapiens (human)	Alliance of Genome Resources
DOID:3179	inverted papilloma Aliases: Inverted papilloma, squamous cell	HGF KDR VEGFA	3082 3791 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:3181	oligodendroglioma Aliases: oligodendroglial neoplasm oligodendroglial tumor	EGF MGMT PTGES3 RB1	10728 1950 4255 5925	Homo sapiens (human)	Alliance of Genome Resources
DOID:319	spinal cord disease	IL6	3569	Homo sapiens (human)	Alliance of Genome Resources
DOID:3191	nemaline myopathy Aliases: Nemaline body disease nemaline rod myopathy rod body disease rod myopathy	ACTB ACTC1 NEB	4703 60 70	Homo sapiens (human)	Alliance of Genome Resources
DOID:3192	neurilemmoma Aliases: Psammomatous schwannoma schwannoma	ATAD5 KDR PECAM1 SERPINE1 SIX1 SNCA	3791 5054 5175 6495 6622 79915	Homo sapiens (human)	Alliance of Genome Resources
DOID:3193	peripheral nerve sheath neoplasm Aliases: neoplasm of the nerve Sheath nerve sheath tumour	LATS2	26524	Homo sapiens (human)	Alliance of Genome Resources
DOID:3204	schwannomatosis Aliases: SWN neurilemmomatosis neurinomatosis	COQ6 SMARCB1	51004 6598	Homo sapiens (human)	Alliance of Genome Resources
DOID:3209	junctional epidermolysis bullosa Aliases: congenital junctional epidermolysis bullosa	COL17A1 ITGA3 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2	1308 3655 3675 3691 3909 3914 3918	Homo sapiens (human)	Alliance of Genome Resources
DOID:321	tropical spastic paraparesis Aliases: HTLV-associated myelopathy Tropical spastic paralysis Tropical spastic paraplegia	C3 CTLA4 HLA-DQB1 HNRNPA1 IFNL1 IL21 KLRK1 MMP2 NFKB1 TNFRSF18 ZEB1	1493 22914 282618 3119 3178 4313 4790 59067 6935 718 8784	Homo sapiens (human)	Alliance of Genome Resources
DOID:3210	Pelizaeus-Merzbacher disease Aliases: HLD1 Leukodystrophy, sudanophilic PMD Pelizaeus Merzbacher brain sclerosis Pelizaeus-Merzbacher brain sclerosis diffuse familial brain sclerosis hypomyelinating leukodystrophy 1 sudanophilic leukodystrophy, Paelizeus-Merzbacher type	PLP1	5354	Homo sapiens (human)	Alliance of Genome Resources
DOID:3211	lysosomal storage disease Aliases: disorder of lysosomal enzyme inborn lysosomal enzyme disorder lysosomal storage metabolism disorder	AGA CTSA GGA2 GGA3 GLA HEXB MITF PSAP PSAPL1 SLC17A5 SLC66A1 TFE3 TFEB VPS16	175 23062 23163 26503 2717 3074 4286 5476 54896 5660 64601 7030 768239 7942	Homo sapiens (human)	Alliance of Genome Resources
DOID:3213	demyelinating disease Aliases: demyelinating disorder	CCR2 CD80 CXCR2 ENTPD1 KLK6 MBP MYC NEFL PLP1 PTGS2 TUBB4A	10382 3579 4155 4609 4747 5354 5653 5743 729230 941 953	Homo sapiens (human)	Alliance of Genome Resources
DOID:322	myelitis	HLA-DPB1	3115	Homo sapiens (human)	Alliance of Genome Resources
DOID:3227	tracheal stenosis Aliases: Stenosis of trachea	DRD1 TGFB1	1812 7040	Homo sapiens (human)	Alliance of Genome Resources
DOID:3234	central nervous system lymphoma Aliases: Microglioma primary CNS lymphoma	BTK CD79B IL10 MYD88	3586 4615 695 974	Homo sapiens (human)	Alliance of Genome Resources

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