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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

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

Displaying entries **4301 - 4325** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:4226	endometrial stromal sarcoma Aliases: ESS Undifferentiated endometrial sarcoma endometrial stromal sarcoma, high grade	KIT	3815	Homo sapiens (human)	Alliance of Genome Resources
DOID:1063	interstitial nephritis Aliases: renal tubulo-interstitial disease	CCL11 CCL7	6354 6356	Homo sapiens (human)	Alliance of Genome Resources
DOID:2835	polycythemia due to hypoxia	PXK SNX16	54899 64089	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070056	autosomal dominant intellectual developmental disorder 26 Aliases: MRD26 autosomal dominant mental retardation 26 autosomal dominant non-syndromic intellectual disability 26	AUTS2	26053	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081030	central conducting lymphatic anomaly Aliases: lymphatic malformation-7	EPHB4	2050	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110556	autosomal dominant nonsyndromic deafness 27 Aliases: DFNA27 autosomal dominant deafness 27	REST	5978	Homo sapiens (human)	Alliance of Genome Resources
DOID:4194	glucose metabolism disease Aliases: disorder of glucose metabolism	DGKA DGKB DGKG EIF2S3 GCK HK1 HK2 HK3 HKDC1 IGF1R INSR INSRR IRS1 IRS2 IRS4 KCNH6 PIK3CB PIK3CD RPS6KB1 TLR4 TLR5	1606 1607 1608 1968 2645 3098 3099 3101 3480 3643 3645 3667 5291 5293 6198 7099 7100 80201 81033 8471 8660	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111134	focal segmental glomerulosclerosis 9 Aliases: FSGS9	CRB2	286204	Homo sapiens (human)	Alliance of Genome Resources
DOID:2975	cystic kidney disease Aliases: renal Cyst	BICC1 DNM2 EPHB4 LAMA5 ROBO1 RPGRIP1L SLIT2 TMEM67	1785 2050 23322 3911 6091 80114 91147 9353	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050474	Netherton syndrome	GBA1	2629	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110435	dilated cardiomyopathy 1GG Aliases: CMD1GG	SDHA	6389	Homo sapiens (human)	Alliance of Genome Resources
DOID:2921	glomerulonephritis	ACE ADM AGT AGTR2 ALOX15 ANXA5 AXL BDKRB1 C1QA C3 C6 CCL1 CCL7 CD163 CD59 CFI CNDP1 COL4A3 CSF1 CX3CL1 EP300 F2 FBN1 FCGR2B FCGR3A FN1 FOS GAS6 GDNF IFNG IL1RN ITGA3 ITGB1 ITGB3 KLKB1 LTBP1 LTC4S MMP3 MPO MS4A1 NGF NPPA PDGFB PDGFD PLA2G7 PRF1 PTAFR SERPINE1 SPP1 TBXAS1 TF TNFRSF1A TNFRSF1B TPO VCAM1 VEGFA	1285 133 1435 1636 183 186 2033 2147 2200 2213 2214 2335 2353 246 2621 2668 308 3426 3458 3557 3675 3688 3690 3818 4052 4056 4314 4353 4803 4878 5054 5155 5551 558 5724 623 6346 6354 6376 6696 6916 7018 712 7132 7133 7173 718 729 7412 7422 7941 80310 84735 931 9332 966	Homo sapiens (human)	Alliance of Genome Resources
DOID:8463	corneal ulcer	IL6 MUC5AC TNF	3569 4586 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112238	X-linked lissencephaly 2 Aliases: X-linked lissencephaly with abnormal genitalia X-linked lissencephaly with ambiguous genitalia X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome XLAG XLAG (X-linked lissencephaly with abnormal genitalia) syndrome XLIS2	ARX	170302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111123	nephronophthisis 15 Aliases: NPHP15	CEP164	22897	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111564	hypoplastic or aplastic tibia with polydactyly Aliases: Werner mesomelic syndrome absence of tibia with polydactyly absent tibia-polydactyly syndrome hypoplastic tibiae-postaxial polydactyly syndrome tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	SHH	6469	Homo sapiens (human)	Alliance of Genome Resources
DOID:8677	perinatal necrotizing enterocolitis Aliases: ENTEROCOLITIS NECROTIZING Necrotizing enterocolitis in fetus OR newborn Perinatal necrotising enterocolitis Pseudomembranous enterocolitis in newborn necrotizing enterocolitis	CD14 CD40 CD40LG EGF HBEGF IL10 IL10RB IL6 MUC2 PARP1 PLAUR PTAFR TJP1 TLR1 TLR2 TLR3 TLR4 TLR5 TLR6 TLR7 TLR9 TNF	10333 142 1839 1950 3569 3586 3588 4583 51284 5329 54106 5724 7082 7096 7097 7098 7099 7100 7124 929 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070130	autosomal dominant cutis laxa 1 Aliases: ADCL1	ELN	2006	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110160	Charcot-Marie-Tooth disease axonal type 2T Aliases: AR-CMT2T CMT2T Charcot-Marie-Tooth neuropathy type 2T autosomal recessive axonal Charcot-Marie-Tooth disease type 2T	MME	4311	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110937	autosomal dominant osteopetrosis 1 Aliases: OPTA1 autosomal dominant osteopetrosis type 1	LRP5	4041	Homo sapiens (human)	Alliance of Genome Resources
DOID:13276	Mycoplasma pneumoniae pneumonia Aliases: Mycoplasma pneumonia Mycoplasmal pneumonia Pneumonia due to Eaton's agent Pneumonia due to Mycoplasma pneumoniae Pneumonia due to Mycoplasma pneumoniae (disorder) cold agglutinin positive pneumonia	GALC IL13 TNF	2581 3596 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:13544	low tension glaucoma Aliases: Normal tension glaucoma	ADRB1 APOE BDNF EDN1 HSPD1 MYOC OPTN SLC1A1 SLC1A3 SOD1 TLR4 TNF TP53	10133 153 1906 3329 348 4653 627 6505 6507 6647 7099 7124 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080160	Cytomegalovirus retinitis Aliases: CMV retinitis	HLA-B	3106	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111156	spermatogenic failure 9 Aliases: globozoospermia male infertility due to round-headed spermatozoa	DPY19L2	283417	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080751	keratosis pilaris atrophicans	LRP1	4035	Homo sapiens (human)	Alliance of Genome Resources

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