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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 **3476 - 3500** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0081030	central conducting lymphatic anomaly Aliases: lymphatic malformation-7	EPHB4	2050	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110354	retinitis pigmentosa 19 Aliases: RP19	ABCA4	24	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070526	PLACK syndrome Aliases: peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	CAST	831	Homo sapiens (human)	Alliance of Genome Resources
DOID:3181	oligodendroglioma Aliases: oligodendroglial neoplasm oligodendroglial tumor	EGF MGMT PTGES3 RB1	10728 1950 4255 5925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110401	retinitis pigmentosa 74 Aliases: RP74	BBS2	583	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110486	autosomal recessive nonsyndromic deafness 28 Aliases: DFNB28 autosomal recessive deafness 28	TRIOBP	11078	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080960	amelogenesis imperfecta type 2A6 Aliases: Amelogenesis imperfecta, hypomaturation type, IIA6	GPR68	8111	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111898	CK syndrome Aliases: X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome	NSDHL	50814	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050570	congenital disorder of glycosylation type I	ALG12 ALG1 ALG1L2 ALG5 ALG6 ALG8 ALG9 DOLK DPM1 DPM3 MPI PMM1 PMM2 RFT1 SRD5A3	22845 29880 29929 4351 5372 5373 54344 56052 644974 79053 79087 79644 79796 8813 91869	Homo sapiens (human)	Alliance of Genome Resources
DOID:657	adenoma Aliases: acinar cell adenoma acinic cell adenoma adenomas	APC EFEMP1 NCAM1	2202 324 4684	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110709	hypotrichosis 12 Aliases: Hypt12	RPL21	6144	Homo sapiens (human)	Alliance of Genome Resources
DOID:4362	cervical cancer Aliases: cervical neoplasm cervix cancer cervix uteri cancer neoplasm of uterine cervix tumor of the Cervix Uteri uterine cervical neoplasm	APEX1 BIRC2 BRCA1 BSG CD55 CDC25A CDH13 ERBB4 HLA-B HLA-DPB1 HLA-DQB1 HNRNPC HRAS HSPA8 IL10 KDM3A KMT2A KMT2E KRAS MAP2K3 MAP2K6 MDC1 MMP13 MMP1 NRAS PGM3 PTK2 PTPN11 PTPN6 SF3B4 SMAD4 SOS1 TAP1 TNF TNFRSF10A XRCC1 ZFHX3	1012 10262 1604 2066 3106 3115 3119 3183 3265 328 329 3312 3586 3845 4089 4297 4312 4322 463 4893 5238 55818 55904 5606 5608 5747 5777 5781 6654 672 682 6890 7124 7515 8797 9656 993	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060253	scapuloperoneal myopathy	FHL1	2273	Homo sapiens (human)	Alliance of Genome Resources
DOID:11836	clubfoot Aliases: Congenital equinovarus Equinovarus deformity of foot congenital clubfoot congenital talipes equinovarus	CYP1A1 FLNB FRAS1 GLI3 GRIP1 HOXD13 PITX1 RET	1543 2317 23426 2737 3239 5307 5979 80144	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080561	congenital disorder of glycosylation Ii Aliases: congenital disorder of glycosylation 1i	ALG2	85365	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111140	IGSF1 deficiency syndrome Aliases: CHTE X-linked central congenital hypothyroidism with late-onset macroorchidism X-linked central congenital hypothyroidism with late-onset testicular enlargement central hypothyroidism and testicular enlargement	IGSF1	3547	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080309	fatal infantile hypertonic myofibrillar myopathy	CRYAB	1410	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080453	developmental and epileptic encephalopathy 25 Aliases: DEE25 developmental and epileptic encephalopathy 25, with amelogenesis imperfecta early infantile epileptic encephalopathy 25	SLC13A5	284111	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111502	combined oxidative phosphorylation deficiency 6 Aliases: COXPD6 Mitochondrial encephalomyopathy due to COXPD6 Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 severe X-linked mitochondrial encephalomyopathy	AIFM1	9131	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111467	combined oxidative phosphorylation deficiency 13 Aliases: COXPD13	PNPT1	87178	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080612	anterior segment dysgenesis 7	PXDN	7837	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080560	congenital disorder of glycosylation Ih Aliases: congenital disorder of glycosylation 1h	ALG8	79053	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050793	short QT syndrome	KCNH2 KCNH6 KCNQ1	3757 3784 81033	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111013	cone-rod dystrophy 3 Aliases: CORD3	ABCA4	24	Homo sapiens (human)	Alliance of Genome Resources
DOID:3689	brachial plexus neuritis Aliases: Brachial neuritis Parsonage-Aldren-Turner syndrome	SEPTIN9	10801	Homo sapiens (human)	Alliance of Genome Resources

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