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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 **2151 - 2175** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0110867	congenital stationary night blindness 1C Aliases: CSNB1C congenital stationary night blindness 1C autosomal recessive	TRPM1	4308	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110868	congenital stationary night blindness 1D Aliases: CSNB1D congenital stationary night blindness 1D autosomal recessive	SLC24A1	9187	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110869	congenital stationary night blindness 1E Aliases: CSNB1E congenital stationary night blindness 1E autosomal recessive	GPR179	440435	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110870	congenital stationary night blindness 1A Aliases: CSNB1A NBMI complete CSNB X-linked congenital stationary night blindness 1A X-linked congenital stationary night blindness with myopia hemeralopia-myopia myopia-night blindness	NYX	60506	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110871	congenital stationary night blindness 2A Aliases: congenital stationary night blindness 2A X-linked	CACNA1F	778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110873	holoprosencephaly 9 Aliases: HPE9 holoprosencephaly with microphthalmia and first branchial arch anomalies pituitary anomalies with holoprosencephaly-like features	GLI2	2736	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110875	holoprosencephaly 3 Aliases: HLP3 HPE3	SHH	6469	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110876	holoprosencephaly 7 Aliases: HPE7	PTCH1	5727	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110877	holoprosencephaly 11 Aliases: HPE11	CDON	50937	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110880	holoprosencephaly 4 Aliases: HPE4	TGIF1	7050	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110883	inflammatory bowel disease 17 Aliases: IBD17	IL23R	149233	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110887	inflammatory bowel disease 12 Aliases: IBD12	GNAI2	2771	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110892	inflammatory bowel disease 1 Aliases: IBD1	NOD2	64127	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110893	inflammatory bowel disease 13 Aliases: IBD13	ABCB1	5243	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110895	inflammatory bowel disease 14 Aliases: IBD14	IRF5	3663	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110896	inflammatory bowel disease 16 Aliases: IBD16	TNFSF15	9966	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110899	inflammatory bowel disease 28 Aliases: IBD28 early onset autosomal recessive inflammatory bowel disease 28	IL10RA	3587	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110909	inflammatory bowel disease 25 Aliases: IBD25 early onset autosomal recessive inflammatory bowel disease 25	IL10RB	3588	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110910	leukocyte adhesion deficiency 1 Aliases: LAD1 LFA1 immunodeficiency leukocyte adhesion deficiency type I lymphocyte function-associated antigen 1 immunodeficiency	ITGB2	3689	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110912	leukocyte adhesion deficiency 3 Aliases: IADD LAD1 variant LAD1V LAD3 integrin activation deficiency disease leukocyte adhesion deficiency 1 variant leukocyte adhesion deficiency type III	RASGRP2	10235	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110913	adult hypophosphatasia Aliases: mild hypophosphatasia	ALPL	249	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110914	infantile hypophosphatasia Aliases: Hops phosphoethanolaminuria	ALPL	249	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110915	childhood hypophosphatasia	ALPL	249	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110916	hereditary spherocytosis type 1 Aliases: HS1 SPH1 hereditary spherocytosis 1	ADD2 ANK1 EPB42 SPTA1	119 2038 286 6708	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110917	hereditary spherocytosis type 2 Aliases: HS2 SPH2 hereditary spherocytosis 2	SPTB	6710	Homo sapiens (human)	Alliance of Genome Resources

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