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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 **9376 - 9400** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:3603	mucinous cystadenocarcinoma Aliases: Pseudomucinous cystadenocarcinoma	LHCGR	3973	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112125	alpha-thalassemia myelodysplasia syndrome Aliases: ATMDS acquired HbH disease acquired hemoglobin H disease alpha-thalassemia-myelodysplastic syndrome	ATRX	546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050912	colon adenoma	CHKA RAC1 RBP4 TET2	1119 54790 5879 5950	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060367	Parkinson's disease 1 Aliases: autosomal dominant Parkinson disease 1 autosomal dominant Parkinson's disease 1	SNCA	6622	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080028	spondyloepimetaphyseal dysplasia, Strudwick type	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110057	amelogenesis imperfecta type 2A1 Aliases: AI2A1 amelogenesis imperfecta pigmented hypomaturation type 1 amelogenesis imperfecta type IIA1	KLK4	9622	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080283	developmental and epileptic encephalopathy 55 Aliases: DEE55 GPIBD14 early infantile epileptic encephalopathy 55 glycosylphosphatidylinositol biosynthesis defect 14	PIGP	51227	Homo sapiens (human)	Alliance of Genome Resources
DOID:8991	cervix uteri carcinoma in situ Aliases: CIN III CIN III - carcinoma in situ of cervix CIN III - severe dyskaryosis Cervix Ca in situ Severe Dysplasia of the Cervix Uteri Severe dysplasia of cervix carcinoma in situ of cervix carcinoma in situ of uterine cervix carcinoma of cervix stage 0 cervical intraepithelial neoplasia grade III with severe dysplasia squamous intraepithelial neoplasia, grade III	ADAM9 BRCA1 CADM1 CD274 CD46 CDH1 CDKN1B CSF1R CTNNA1 DLG1 FASLG HDAC1 HDAC2 HDAC6 HLA-DRB1 IGFBP3 MLH1 MMP2 MSH2 PDCD1 PHB1 PTEN PTGS2 RB1 RELA SKP2 STAT3 TERT TLR9 TOP2A VEGFA XIAP	10013 1027 1436 1495 1739 23705 29126 3065 3066 3123 331 3486 356 4179 4292 4313 4436 5133 5245 54106 5728 5743 5925 5970 6502 672 6774 7015 7153 7422 8754 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050797	peroxisomal acyl-CoA oxidase deficiency Aliases: Peroxisomal acyl-coenzyme A oxidase	ACOX1	51	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110384	retinitis pigmentosa 25 Aliases: RP25	EYS	346007	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060809	syndromic X-linked intellectual disability Claes-Jensen type Aliases: MRXSCJ MRXSJ mental retardation, X-linked, syndromic, Claes-Jensen type syndromic X-linked intellectual disability due to JARID1C mutation syndromic X-linked mental retardation JARID1C-related	KDM5B	10765	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110581	autosomal dominant nonsyndromic deafness 56 Aliases: DFNA56 autosomal dominant deafness 56	TNC	3371	Homo sapiens (human)	Alliance of Genome Resources
DOID:13406	pulmonary sarcoidosis Aliases: lung Sarcoidosis	ABO BDNF C3 CCL5 CCR5 CCR7 CFTR CHI3L1 CXCR3 DEFB1 EGR1 HLA-DRB1 IL15 IL18R1 IL1RN LTA MUC1 NGF NOD2 NOS2 NR3C1 NTF3 NTRK1 SFTPA1 TGFB1 TLR2 TNC TNF TNFRSF1B	1080 1116 1234 1236 1672 1958 28 2833 2908 3123 3371 3557 3600 4049 4582 4803 4843 4908 4914 627 6352 64127 653509 7040 7097 7124 7133 718 8809	Homo sapiens (human)	Alliance of Genome Resources
DOID:1556	arthus reaction Aliases: Arthus phenomenon Arthus type urticaria	BTK FCGR2A	2212 695	Homo sapiens (human)	Alliance of Genome Resources
DOID:1586	rheumatic fever Aliases: ACUTE RHEUMATIC FEVER RhF - Rheumatic fever	GC HLA-DQA1 HLA-DQB1 HLA-DRB1 ICAM1	2638 3117 3119 3123 3383	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080839	X-linked warfarin sensitivity	F9	2158	Homo sapiens (human)	Alliance of Genome Resources
DOID:50	thyroid gland disease	SECISBP2	79048	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060877	bullous congenital ichthyosiform erythroderma Aliases: bullous type ichthyosis ichthyosis bullosa of Siemens superficial epidermolytic ichthyosis	KRT2	3849	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070246	X-linked Emery-Dreifuss muscular dystrophy 1 Aliases: EDMD1 EMD1 Emery-Dreifuss muscular dystrophy 1, X-linked humeroperoneal neuromuscular disease muscular dystrophy, tardive, Dreifuss-Emery type, with contractures scapuloperoneal syndrome, X-linked	EMD	2010	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080978	arthrogryposis multiplex congenita-1	LGI4	163175	Homo sapiens (human)	Alliance of Genome Resources
DOID:4372	intracranial embolism Aliases: Cerebral embolism with cerebral infarction cerebral embolism	KL	9365	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060645	chronic recurrent multifocal osteomyelitis Aliases: CRMO chronic multifocal osteomyelitis	IL1R1 IL1RN LPIN2 PSTPIP2	3554 3557 9050 9663	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110205	Charcot-Marie-Tooth disease dominant intermediate E Aliases: CMTDIE Charcot-Marie-Tooth disease-nephropathy syndrome Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis autosomal dominant intermediate Charcot-Marie-Tooth disease type E	INF2	64423	Homo sapiens (human)	Alliance of Genome Resources
DOID:4769	pleuropulmonary blastoma	DICER1 FGF9 YY1	2254 23405 7528	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112249	GAPO syndrome Aliases: growth delay-alopecia-pseudoanodontia-optic atrophy syndrome	ANTXR1	84168	Homo sapiens (human)	Alliance of Genome Resources

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