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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 **12276 - 12300** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0070259	congenital disorder of glycosylation type IIg Aliases: CDG IIg CDG2G CDGII/COG1 cerebrocostomandibular-like syndrome CDGIIg Carbohydrate deficient glycoprotein syndrome type IIg	COG1	9382	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111590	Cohen syndrome Aliases: COH1 Hypotonia, obesity, and prominent incisors Pepper syndrome	VPS13A VPS13B VPS13C	157680 23230 54832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081223	glycosylphosphatidylinositol biosynthesis defect 16 Aliases: Intellectual developmental disorder, autosomal recessive 62	PIGC	5279	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110773	hereditary spastic paraplegia 2 Aliases: SPG2 X-linked spastic paraplegia 2 spastic paraplegia type 2	PLP1	5354	Homo sapiens (human)	Alliance of Genome Resources
DOID:4467	clear cell renal cell carcinoma Aliases: Clear cell carcinoma of kidney clear cell kidney carcinoma conventional (Clear cell) renal cell carcinoma conventional renal cell carcinoma renal clear cell carcinoma	ACKR3 AGER BAX CXCR4 DDR1 ENG EP300 F2 FTO GATA2 IGF1R KAT8 MMP12 MYC PAK4 PDGFB SETD2 SMARCB1 SRSF4 SRSF5 SRSF6 SRSF7 TP53	10298 177 2022 2033 2147 2624 29072 3480 4321 4609 5155 57007 581 6429 6430 6431 6432 6598 7157 780 7852 79068 84148	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060676	catecholaminergic polymorphic ventricular tachycardia 2 Aliases: CVPT2	CASQ2	845	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111635	autosomal recessive nonsyndromic deafness 57 Aliases: DFNB57 autosomal recessive deafness 57	PDZD7	79955	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110265	cataract 31 multiple types Aliases: CTRCT31	CHMP4B	128866	Homo sapiens (human)	Alliance of Genome Resources
DOID:2602	chondroma Aliases: central Chondroma	PTPN11	5781	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060892	late onset Parkinson's disease Aliases: late onset Parkinson disease	ADH1C ATXN2 ATXN3 EIF4G1 GBA1 HLA-DRA LRRK1 MAPT PMPCB PSAP TBP UQCRC1	126 1981 2629 3122 4137 4287 5660 6311 6908 7384 79705 9512	Homo sapiens (human)	Alliance of Genome Resources
DOID:12934	Kearns-Sayre syndrome	TFAM	7019	Homo sapiens (human)	Alliance of Genome Resources
DOID:2935	Chediak-Higashi syndrome Aliases: CHS Chediak - Steinbrinck anomaly	LYST WDFY3	1130 23001	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110456	dilated cardiomyopathy 1R Aliases: CMD1R	ACTC1	70	Homo sapiens (human)	Alliance of Genome Resources
DOID:841	extrinsic allergic alveolitis Aliases: alveolitis hypersensitivity pneumonitis	ACE CCL5 CCR3 CXCR3 CYP2E1 IL13 NOS2 SFTPA1 TAP1 TNC TNF TNFRSF1A TNFRSF1B VEGFA	1232 1571 1636 2833 3371 3596 4843 6352 653509 6890 7124 7132 7133 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070491	mitochondrial complex IV deficiency nuclear type 1 Aliases: MC4DN1	SURF1	6834	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060304	dyschromatosis universalis hereditaria	ABCB6	10058	Homo sapiens (human)	Alliance of Genome Resources
DOID:8689	anorexia nervosa	AKAP6 HTR4 IGFALS NR3C1	2908 3360 3483 9472	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111922	spermatogenic failure 31 Aliases: SPGF31	PMFBP1	83449	Homo sapiens (human)	Alliance of Genome Resources
DOID:1554	vibratory urticaria	ADGRE2	30817	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080377	peroxisomal biogenesis disorder	RHOA RHOB RHOC	387 388 389	Homo sapiens (human)	Alliance of Genome Resources
DOID:783	end stage renal disease Aliases: end stage renal failure end-stage kidney disease	ABCA1 ABCB1 ABCC2 ABCC3 ABCG1 ACAT1 ACE ADIPOQ ADRB2 AGER AGTR2 ALB APOA1 APOC2 APOC3 APOE BDKRB1 C6 CASR CAT CCL2 CCL5 CCR5 CD2AP CD40 CD40LG CFB CHGA COL1A1 COL3A1 COL4A3 COL4A4 CPT1A CSF1 CTLA4 CXCR1 CXCR2 CYBB CYP1A1 CYP2C18 CYP2C8 CYP3A5 DRD1 DRD2 EDN1 ENPP1 EPOR F2 F5 FCGR2B FGB FN1 GHRL GLO1 GTPBP4 HMGCR ICAM1 IL1A IL1RN IL20 IRS1 ITGA8 ITGB3 KEAP1 KL KLK1 LCAT LCN2 LEP LIPC LPIN1 LPL LRP2 MBL2 MLXIPL MMP1 MMP2 MMP3 MPO MTOR MYH9 NGF NOS1 NOS3 NPHS1 NPPB NPPC NR3C1 OLR1 PGF PLA2G7 PLAU PLAUR POSTN PPARG PTGER4 RELA SCAF1 SCAP SCARB1 SELL SERPINE1 SLC22A2 SLC34A1 SLC9A5 SOAT2 SREBF2 TGFB1 THBD TLR2 TLR4 TNF TNFRSF11B TNFRSF1A TNFRSF1B UCP2 VWF	10631 1113 1234 1244 1277 1281 1285 1286 1374 1435 1493 1536 154 1543 1558 1562 1577 1636 177 1812 1813 186 19 1906 2057 213 2147 2153 2213 2244 22937 23175 2335 23560 23607 2475 2739 2908 3156 335 3383 344 345 348 3552 3557 3577 3579 3667 3690 38 3816 3931 3934 3952 3990 4023 4036 4153 4312 4313 4314 4353 4627 4803 4842 4846 4868 4879 4880 4973 4982 5054 50604 51085 5167 51738 5228 5243 5328 5329 5468 5734 58506 5970 623 629 6347 6352 6402 6553 6569 6582 6721 7040 7056 7097 7099 7124 7132 7133 729 7351 7450 7941 8435 846 847 8516 8714 9365 9370 949 958 959 9619 9817	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111180	French Canadian Leigh disease Aliases: French Canadian type COX deficiency French Canadian type Leigh syndrome French Canadian type cytochrome c oxidase deficiency Saguenay Lac saint Jean type COX deficiency Saguenay Lac saint Jean type Leigh syndrome mitochondrial complex IV deficiency nuclear type 5	LRPPRC	10128	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112336	spermatogenic failure 56 Aliases: SPGF56	DNAH10	196385	Homo sapiens (human)	Alliance of Genome Resources
DOID:4451	renal carcinoma Aliases: carcinoma of kidney kidney carcinoma	FOSL2 JUN JUNB JUND	2355 3725 3726 3727	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112035	non-syndromic X-linked intellectual disability 96 Aliases: MRX96 X-linked mental retardation 96	SYP	6855	Homo sapiens (human)	Alliance of Genome Resources

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