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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **226 - 250** of **5716** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:14504	Niemann-Pick disease Aliases: Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis	NPC2 SMPD1	10577 6609	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070114	Niemann-Pick disease type C2 Aliases: NPC2	NPC2	10577	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060577	3MC syndrome 3	COLEC10	10584	Homo sapiens (human)	Alliance of Genome Resources
DOID:9884	muscular dystrophy	CAPN3 CHKB COL6A3 DYSF FKRP FKTN LAMA2 POMGNT1 POMT1 POMT2 SGCA SGCB SGCD SYNE1	10585 1120 1293 2218 23345 29954 3908 55624 6442 6443 6444 79147 825 8291	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	ADIPOQ DGAT1 DTNA HFE JUP KLK1 MLYCD MYH7 NONO NOS3 POMT1 SLC22A5 SOD2 SRF TAB2 TSHR	10585 1837 23118 23417 3077 3728 3816 4625 4841 4846 6584 6648 6722 7253 8694 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	FKRP FKTN POMGNT1 POMT1 POMT2	10585 2218 29954 55624 79147	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:9296	cleft lip Aliases: Labium leporinum cheiloschisis cleft lip, unilateral, complete complete unilateral cleft lip hare lip	BMP4 CDH1 FGFR1 GDF6 MTHFD1 NECTIN1 NOG POMT1 SDC2 SLC19A1	10585 2260 392255 4522 5818 6383 652 6573 9241 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050453	lissencephaly	PAFAH1B1 POMGNT1 POMT1 POMT2 TUBA1A	10585 29954 5048 55624 7846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110297	autosomal recessive limb-girdle muscular dystrophy type 2K Aliases: LGMD2K MDDGC1 limb-girdle muscular dystrophy-intellectual disability syndrome muscular dystrophy limb-girdle type 2K muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1	POMT1	10585	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1 Aliases: CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1	POMT1	10585	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1 Aliases: MDDGA1 Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1	POMT1	10585	Homo sapiens (human)	Alliance of Genome Resources
DOID:234	colon adenocarcinoma Aliases: Colonic adenocarcinoma adenocarcinoma of colon	BAX CHD4 CSF1R KDM6A LOX MYD88 PIK3CA PIK3R3 RAC1 RNASET2 SMC2 SRC STAT1 STAT3 STAT5A STAT5B STAT6 TGFB1 UBR5	10592 1108 1436 4015 4615 51366 5290 581 5879 6714 6772 6774 6776 6777 6778 7040 7403 8503 8635	Homo sapiens (human)	Alliance of Genome Resources
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	ABCA4 CA4 CAT CC2D2A CNGA1 CNGB1 CRB1 GUCY2D HK1 HKDC1 IMPG1 MFRP POMGNT1 PRPF3 PRPF8 PRPH2 PRPS1 RGR RHO RLBP1 SERPINF1 SNRNP200 SOD1 USH2A	10594 1258 1259 23020 23418 24 3000 3098 3617 5176 55624 5631 57545 5961 5995 6010 6017 6647 7399 762 80201 83552 847 9129	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110403	retinitis pigmentosa 13 Aliases: RP13	PRPF8	10594	Homo sapiens (human)	Alliance of Genome Resources
DOID:2741	bilirubin metabolic disorder Aliases: hereditary hyperbilirubinemia hyperbilirubinemia	ABCC2 HGF SLCO1B1 SLCO1B3 SOD2 UGT1A1	10599 1244 28234 3082 54658 6648	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060218	CREST syndrome	CENPC FBN1	1060 2200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110813	hereditary spastic paraplegia 62 Aliases: SPG62 autosomal recessive spastic paraplegia 62 autosomal recessive spastic paraplegia type 62	ERLIN1	10613	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:0110595	Stromme syndrome Aliases: CILD31 apple peel syndrome with microcephaly and ocular anomalies jejunal atresia with microcephaly and ocular anomalies lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome primary ciliary dyskinesia 31	CENPF	1063	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110500	autosomal recessive nonsyndromic deafness 42 Aliases: DFNB42 autosomal recessive deafness 42	Ildr1	106347	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060781	congenital secretory sodium diarrhea 3 Aliases: congenital secretory sodium diarrhea 3 syndromic congenital secretory sodium diarrhea 3 with or without other congenital anomalies congenital secretory sodium diarrhoea 3 congenital secretory sodium diarrhoea 3 syndromic congenital secretory sodium diarrhoea 3 with or without other congenital anomalies	SPINT2	10653	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070383	developmental and epileptic encephalopathy 97 Aliases: DEE97 early infantile epileptic encephalopathy 97	CELF2	10659	Homo sapiens (human)	Alliance of Genome Resources
DOID:3119	gastrointestinal system cancer Aliases: GI tumor digestive system cancer gastrointestinal tract cancer	CES1 SMAD4	1066 4089	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050671	female breast cancer	ATM CHEK2 CTCF FANCI MAST1 PALB2 POLH	10664 11200 22983 472 5429 55215 79728	Homo sapiens (human)	Alliance of Genome Resources
DOID:2513	basal cell carcinoma Aliases: Basal cell cancer Basal cell carcinoma of skin Basal cell neoplasm Basal cell tumor Epithelioma basal cell Rodent ulcer malignant Basal cell neoplasm malignant basal cell tumor	BAP1 CRNKL1 CTCF CTLA4 OCA2 PTCH1 PTCH2 RASA1 SHH SMO TP53	10664 1493 4948 51340 5727 5921 6469 6608 7157 8314 8643	Homo sapiens (human)	Alliance of Genome Resources

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