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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 **1951 - 1975** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0111918	spermatogenic failure 40 Aliases: SPGF40	CFAP65	255101	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111917	spermatogenic failure 43 Aliases: SPGF43	SPEF2	79925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111916	spermatogenic failure 28 Aliases: SPGF28	FANCM	57697	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111913	spermatogenic failure 30 Aliases: SPGF30	TDRD9	122402	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111911	spermatogenic failure 34 Aliases: SPGF34	FSIP2	401024	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111910	spermatogenic failure Aliases: SPGF	DNAH10	196385	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111909	autosomal dominant thrombophilia due to protein C deficiency Aliases: THPH3 autosomal dominant PROC deficiency autosomal dominant protein C deficiency	PROC	5624	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111908	thrombophilia due to thrombomodulin defect Aliases: THBD-related bleeding disorder THBD-related coagulopathy THPH12 thrombomodulin-related bleeding disorder thrombomodulin-related coagulopathy	THBD	7056	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111907	thrombophilia due to thrombin defect Aliases: THPH1 prothrombin-related thrombophilia thrombophilia due to factor 2 defect	F13A1 F2 HABP2	2147 2162 3026	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111905	autosomal recessive thrombophilia due to protein S deficiency Aliases: THPH6 autosomal recessive thrombophilia due to congenital protein S deficiency severe hereditary thrombophilia due to congenital protein S deficiency	PROS1	5627	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111904	autosomal recessive thrombophilia due to protein C deficiency Aliases: THPH4 autosomal recessive PROC deficiency autosomal recessive protein C deficiency	PROC	5624	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111903	thrombophilia due to HRG deficiency Aliases: THPH11 hereditary thrombophilia due to congenital HRG deficiency hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	HRG	3273	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111902	thrombophilia due to activated protein C resistance Aliases: APC resistance PCCF deficiency PROC cofactor deficiency THPH2 activated protein C resistance thrombophilia V thrombophilia due to deficiency of activated protein C cofactor	F5 PROC	2153 5624	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111901	heparin cofactor II deficiency Aliases: HCF 2 deficiency HCF II deficiency THPH10 thrombophilia due to heparin cofactor II deficiency	SERPIND1	3053	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111900	autosomal dominant thrombophilia due to protein S deficiency Aliases: THPH5	PROS1	5627	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111899	X-linked thrombophilia due to factor IX defect Aliases: THPH8	F9	2158	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:0111896	Diamond-Blackfan anemia 18 Aliases: DBA18 RPL18-related Diamond-Blackfan anemia	RPL18	6141	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111892	Diamond-Blackfan anemia 11 Aliases: DBA11 RPL26-related Diamond-Blackfan anemia	RPL26	6154	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111887	Diamond-blackfan anemia 3 Aliases: DBA3 RPS24-related Diamond-Blackfan anemia	RPS24	6229	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111883	Diamond-Blackfan anemia 5 Aliases: DBA5 RPL35A-related Diamond-Blackfan anemia	RPL35A	6165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111876	linear skin defects with multiple congenital anomalies 3 Aliases: LSDMCA3 linear skin defects with cardiomyopathy and other congenital anomalies	NDUFB11	54539	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111872	nonphotosensitive trichothiodystrophy 6 Aliases: TTD6	GTF2E2	2961	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111870	nonphotosensitive trichothiodystrophy 7 Aliases: TTD7	TARS1	6897	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111867	nonphotosensitive trichothiodystrophy	TARS1 TARS2 TARS3	123283 6897 80222	Homo sapiens (human)	Alliance of Genome Resources

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