GlyCosmos Portal

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

Displaying entries **951 - 975** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:2748	glycogen storage disease III Aliases: Glycogen storage disease 3 Glycogen storage disease, type III amylo 1,6 glucosidase deficiency deficiency of debranching enzyme deficiency of dextrin	AGL	178	Homo sapiens (human)	Alliance of Genome Resources
DOID:2747	glycogen storage disease Aliases: glycogenosis	GYG1 GYS2 PFKL PFKM PFKP PHKA1 PHKA2 PHKG2 PRKAG2 PYGL SLC2A2	2992 2998 51422 5211 5213 5214 5255 5256 5261 5836 6514	Homo sapiens (human)	Alliance of Genome Resources
DOID:2746	glycogen storage disease V Aliases: Glycogen storage disease 5 Glycogen storage disease, type V McArdle's disease glycogen storage disease type V myophosphorylase deficiency	HIF1A PYGM	3091 5837	Homo sapiens (human)	Alliance of Genome Resources
DOID:2742	auditory system disease Aliases: ear and mastoid disease	FDXR MYO7A	2232 4647	Homo sapiens (human)	Alliance of Genome Resources
DOID:2741	bilirubin metabolic disorder Aliases: hereditary hyperbilirubinemia hyperbilirubinemia	ABCC2 ABCC3 CALB1 F7 HGF SLCO1B1 SLCO1B3 SOD2 UGT1A1	10599 1244 2155 28234 3082 54658 6648 793 8714	Homo sapiens (human)	Alliance of Genome Resources
DOID:2739	Gilbert syndrome Aliases: Constitutional hyperbilirubinemia Gilbert's disease Gilbert's syndrome Gilbert-Meulengracht syndrome hereditary nonhemolytic jaundice	UGT1A1	54658	Homo sapiens (human)	Alliance of Genome Resources
DOID:2738	pseudoxanthoma elasticum Aliases: Gronblad-Strandberg syndrome	ABCC6 CAT ELN ENPP1 GPX1 MMP2 SOD2 VEGFA XYLT1 XYLT2	2006 2876 368 4313 5167 64131 64132 6648 7422 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:2736	Hajdu-Cheney syndrome Aliases: Cheney syndrome HJCYS SFPKS acroosteolysis with osteoporosis and changes in skull and mandible arthrodentoosteodysplasia serpentine fibula-polycystic kidney syndrome	NOTCH2	4853	Homo sapiens (human)	Alliance of Genome Resources
DOID:2734	keratosis follicularis Aliases: DARIER-WHITE DISEASE Darier's disease	ANXA1	301	Homo sapiens (human)	Alliance of Genome Resources
DOID:2732	Rothmund-Thomson syndrome Aliases: Congenital poikiloderma RTS	ANAPC1 RECQL4	64682 9401	Homo sapiens (human)	Alliance of Genome Resources
DOID:2729	dyskeratosis congenita Aliases: DKCD	DKC1 TP53 TYMS	1736 7157 7298	Homo sapiens (human)	Alliance of Genome Resources
DOID:2725	capillary hemangioma Aliases: Capillary haemangioma Congenital vascular hamartoma Congenital vascular naevus Infantile hemangioma Juvenile hemangioma Strawberry haemangioma Strawberry nevus Strawberry nevus of skin cellular hemangioma of Infancy	CCN1	3491	Homo sapiens (human)	Alliance of Genome Resources
DOID:2723	dermatitis Aliases: eczema skin inflammation	ADRB2 HCN2 HLA-B IKBKB IL13 TNF	154 3106 3551 3596 610 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:2717	Bloom syndrome Aliases: Bloom-Torre-Machacek syndrome Congenital Telangiectatic Erythema syndrome	BLM	641	Homo sapiens (human)	Alliance of Genome Resources
DOID:2703	synovitis	HLA-B	3106	Homo sapiens (human)	Alliance of Genome Resources
DOID:2697	renal adenoma Aliases: renal cell adenoma	ATP7B	540	Homo sapiens (human)	Alliance of Genome Resources
DOID:2696	Leydig cell tumor Aliases: Leydig cell neoplasm	CGA ESR1 FLT1 INHA LHCGR PDGFA PDGFB PDGFRA PDGFRB PRMT5	10419 1081 2099 2321 3623 3973 5154 5155 5156 5159	Homo sapiens (human)	Alliance of Genome Resources
DOID:2671	transitional cell carcinoma Aliases: transitional carcinoma transitional cell tumor urothelial cell carcinoma	ANGPT1 ANGPT2 ANXA1 APC APOA1 AREG BRD4 BSG CA9 CD44 CD82 CD9 CDKN1B CTNNA1 CTNNB1 CTSB CTSH DAXX EGFR ERBB2 ERBB3 ERBB4 FAS FASLG FGFR2 FGFR3 HRAS IGFBP3 KDR KISS1R KRAS MMP14 MMP15 MMP2 MSH2 NRAS OGG1 PAK1 PHB1 PLA2G4A PLAU POU5F1 PTGES PTGS2 RAD50 REL RELB SFN SKP2 SLC3A2 SLC7A5 SMAD4 SOX2 TERT TFF1 TFRC TIMP1 TP53 TYMP XPO5 XRCC1	10111 1027 1495 1499 1508 1512 1616 1890 1956 2064 2065 2066 2261 2263 23476 2810 284 285 301 324 3265 335 3486 355 356 3732 374 3791 3845 4089 4313 4323 4324 4436 4893 4968 5058 5245 5321 5328 5460 5743 57510 5966 5971 6502 6520 6657 682 7015 7031 7037 7076 7157 7515 768 8140 84634 928 9536 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:264	hemangiopericytoma Aliases: Haemangiopericytic meningioma hemangiopericytoma, malignant malignant hemangiopericytoma	DLL4 EPHB4 HES1 KDR NOTCH1 NOTCH4 PTEN	2050 3280 3791 4851 4855 54567 5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:263	kidney cancer Aliases: malignant neoplasm of kidney except pelvis malignant tumour of kidney renal cancer	FGF9 HRAS KRAS LATS1 LATS2 LLGL1 LLGL2 NRAS POLE PPARGC1A SCRIB	10891 2254 23513 26524 3265 3845 3993 3996 4893 5426 9113	Homo sapiens (human)	Alliance of Genome Resources
DOID:2626	choroid plexus papilloma Aliases: childhood choroid plexus papilloma	TP53	7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:2615	papilloma Aliases: papillomatosis	PLA2G4A PTGES	5321 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:2602	chondroma Aliases: central Chondroma	PTPN11	5781	Homo sapiens (human)	Alliance of Genome Resources
DOID:2600	laryngeal carcinoma Aliases: cancer of larynx carcinoma of larynx	ACKR3 CXCR4 KMT2C UBR5 XRCC1	51366 57007 58508 7515 7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:26	pancreas disease	MSLN	10232	Homo sapiens (human)	Alliance of Genome Resources

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