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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 **11376 - 11400** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0060455	Thiel-Behnke corneal dystrophy Aliases: TBCD Waardenburg-Jonker corneal dystrophy anterior limiting membrane dystrophy type II corneal dystrophy honeycomb-shaped corneal dystrophy of Bowman layer type II	TGFBI	7045	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111905	autosomal recessive thrombophilia due to protein S deficiency Aliases: THPH6 autosomal recessive thrombophilia due to congenital protein S deficiency severe hereditary thrombophilia due to congenital protein S deficiency	PROS1	5627	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090111	PCWH syndrome Aliases: Neurologic Waardenburg-Shah syndrome PCWH Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome	MPZ	4359	Homo sapiens (human)	Alliance of Genome Resources
DOID:14228	oligospermia	TAF7	6879	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111699	Van den Ende-Gupta syndrome Aliases: Marden-Walker-like syndrome Marden-Walker-like syndrome without psychmotor retardation VDEGS blepharophimosis, arachnodactyly, and congenital contractures	SCARF2	91179	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111305	familial febrile seizures 4 Aliases: FEB4 familial febrile convulsions 4	ADGRV1	84059	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112181	Schinzel type phocomelia Aliases: AARRS Al Awadi-Raas-Rothschild syndrome Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome LPHAS Schinzel phocomelia syndrome absence of ulna and fibula with severe limb deficiency aplasia/hypoplasia of limbs and pelvis congenital absence of ulna and fibula limb/pelvis-hypoplasia/aplasia syndrome severe limb deficit	WNT7A	7476	Homo sapiens (human)	Alliance of Genome Resources
DOID:5812	MHC class II deficiency Aliases: BLSII SCID due to absent class II HLA antigens bare lymphocyte syndrome type II	CIITA	4261	Homo sapiens (human)	Alliance of Genome Resources
DOID:14757	Ehlers-Danlos syndrome hypermobility type Aliases: Ehlers-Danlos syndrome, type 3 type III Ehlers-Danlos syndrome	COL3A1	1281	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111786	frontometaphyseal dysplasia 1 Aliases: FMD1	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060785	adult-onset autosomal dominant demyelinating leukodystrophy Aliases: ADLD adult-onset autosomal dominant leukodystrophy autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease	LMNB1	4001	Homo sapiens (human)	Alliance of Genome Resources
DOID:9074	systemic lupus erythematosus Aliases: Lupus Erythematosus, systemic SLE - Lupus Erythematosus, systemic disseminated lupus erythematosus	ADAMTS13 AGER APOA1 C1QA C2 C3 C4A C4B C4B_2 CAST CCL2 CCR3 CCR5 CD40 CD40LG CD46 CD80 CFH CHAF1A CIITA CLU CR2 CTLA4 CXCR2 CYBB CYP1A1 DNASE1 DNMT1 ELN EP300 EPOR F2 FAS FCGR2A FCGR2B FCGR2C FCGR3A HLA-DQB1 HLA-DRB1 HSPA1A HSPA1L HSPD1 IFNG IKZF3 IL10 IL13 IL17A IL1RN IL21 IL21R IL23R IL2 IL5 INPP5D IRF5 JAK1 JUNB KLKB1 LBR LDLR LPA MAN2A1 MBL2 MKI67 MMP1 NOD2 P2RY12 PDCD1 PGF PLD4 PPARG PRDM1 PRF1 PTPRC RC3H1 RO60 SELL SFTPD SLC11A1 SNRNP70 SNRPC SNRPD1 SNRPD2 SOD2 STAT4 TAB2 TAB3 TAP1 TFPI THBD TIMD4 TLR5 TLR7 TLR9 TNF TNFRSF13B TNFRSF1A TNFRSF1B TRAF3IP2 VCAM1 VIM	100293534 10036 10758 11093 1191 122618 1232 1234 1380 149041 149233 1493 1536 1543 177 1773 1786 2006 2033 2057 2147 2212 2213 2214 22806 23118 23495 257397 3075 3119 3123 3303 3305 3329 335 3458 355 3557 3558 3567 3579 3586 3596 3605 3635 3663 3716 3726 3818 3930 3949 4018 4124 4153 4179 4261 4288 4312 50615 51284 5133 5228 54106 5468 5551 5788 59067 6347 639 6402 64127 6441 64805 6556 6625 6631 6632 6633 6648 6738 6775 6890 7035 7056 7100 712 7124 7132 7133 717 718 720 721 7412 7431 831 9103 91937 941 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:5050	Ehrlich tumor carcinoma Aliases: Ehrlich tumour carcinoma Ehrlich's tumor Ehrlich's tumour	CD40 CD40LG	958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110147	Bartter disease type 5 Aliases: BARTS5 Bartter syndrome, type 5, antenatal, transient	MAGED2	10916	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110154	Charcot-Marie-Tooth disease type 2A1 Aliases: CMT2A1 Charcot-Marie-Tooth disease neuronal type 2A1 Charcot-Marie-Tooth neuropathy type 2A1 HMSN IIA1 HMSN2A1 autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1 hereditary motor and sensory neuropathy IIA1	KIF1B	23095	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111916	spermatogenic failure 28 Aliases: SPGF28	FANCM	57697	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050649	atransferrinemia Aliases: familial hypotransferrinemia	TF	7018	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111861	Meester-Loeys syndrome Aliases: MRLS	BGN	633	Homo sapiens (human)	Alliance of Genome Resources
DOID:13628	favism	G6PD	2539	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112034	non-syndromic X-linked intellectual disability 9 Aliases: MRX44 MRX9 X-linked mental retardation 44 X-linked mental retardation 9	FTSJ1	24140	Homo sapiens (human)	Alliance of Genome Resources
DOID:3429	inclusion body myositis	CCR2 CD36 CLU DAG1 FAS MYH15 MYH1 MYH7 SOD2 VCP	1191 1605 22989 355 4619 4625 6648 729230 7415 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112311	male infertility due to acephalic spermatozoa	CNTROB	116840	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070283	primary autosomal recessive microcephaly 13 Aliases: MCPH13	CENPE	1062	Homo sapiens (human)	Alliance of Genome Resources
DOID:1540	parathyroid carcinoma Aliases: Parathyroid gland neoplasm carcinoma of Parathyroid gland malignant neoplasm of parathyroid gland malignant neoplasm of the Parathyroid malignant tumor of parathyroid gland neoplasm of parathyroid gland parathyroid gland cancer parathyroid neoplasm	CDC73	79577	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070337	epithelial recurrent erosion dystrophy Aliases: COL17A1 ERED	COL17A1	1308	Homo sapiens (human)	Alliance of Genome Resources

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