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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 **2276 - 2300** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0110960	Gaucher's disease perinatal lethal Aliases: Fetal Gaucher Disease Gaucher Disease, Collodion Type	GBA1	2629	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110961	atypical Gaucher's disease due to saposin c deficiency	PSAP	5660	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110964	brachydactyly type A1 Aliases: BDA1 Farabee type brachydactyly	GDF5 IHH	3549 8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110965	brachydactyly type A2 Aliases: BDA2 Mohr-Wriedt type brachydactyly brachymesophalangy II	BMP2 BMPR1B CDK7 GDF5	1022 650 658 8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110967	brachydactyly type A4 Aliases: BDA4 Temtamy type brachydactyly brachymesophalangy II and V	HOXD13	3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110969	brachydactyly type B1 Aliases: BDB1	ROR2	4920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110970	brachydactyly type C Aliases: BDC	GDF5	8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110971	brachydactyly type D Aliases: BDD	HOXD13	3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110972	brachydactyly type E1 Aliases: BDE1	HOXD13	3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110975	brachydactyly type B2 Aliases: BDB2	NOG	9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110976	brachydactyly type E2 Aliases: BDE2	PTHLH	5744	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110977	brachydactyly type A1C Aliases: BDA1C	GDF5	8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110978	brachydactyly type A1D Aliases: BDA1D	BMPR1B	658	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110980	Joubert syndrome 1 Aliases: CORS1 CPD4 JBTS1 cerebellooculorenal syndrome 1 cerebelloparenchymal disorder IV	INPP5E	56623	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110982	Joubert syndrome 13 Aliases: JBTS13	TCTN1	79600	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110984	Joubert syndrome 15 Aliases: JBTS15	CEP41	95681	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110985	Joubert syndrome 16 Aliases: JBTS16	TMEM138	51524	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110987	Joubert syndrome 18 Aliases: JBTS18	TCTN3	26123	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110989	Joubert syndrome 20 Aliases: JBTS20	TMEM231	79583	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110993	Joubert syndrome 24 Aliases: JBTS24	TCTN2	79867	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110994	Joubert syndrome 25 Aliases: JBTS25	CEP104	9731	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110995	Joubert syndrome 26 Aliases: JBTS26	KATNIP	23247	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111001	Joubert syndrome 6 Aliases: JBTS6	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111002	Joubert syndrome 7 Aliases: JBTS7	RPGRIP1L	23322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111004	Joubert syndrome 9 Aliases: JBTS9	CC2D2A	57545	Homo sapiens (human)	Alliance of Genome Resources

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