GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4601 - 4625** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:5813	purine nucleoside phosphorylase deficiency Aliases: PNP deficiency Purine-Nucleoside Phosphorylase deficiency deficiency of inosine phosphorylase	PNP	4860	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080178	mucositis	ELANE MKI67 MUC2 MUC4 NOS2 PCNA ULK1	1991 4288 4583 4585 4843 5111 8408	Homo sapiens (human)	Alliance of Genome Resources
DOID:9470	bacterial meningitis	ACHE BCHE BDNF CD46 CHI3L1 MMP9 NGF PARP1 TREM1	1116 142 4179 43 4318 4803 54210 590 627	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081231	autosomal recessive intellectual developmental disorder 70	RSRC1	51319	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080784	urinary tract infection Aliases: UTI	CXCR1 HSPA1B IL1A LCN2 TLR2 TLR4	3304 3552 3577 3934 7097 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:1884	viral hepatitis Aliases: Viral hepatitis with hepatic coma animal viral hepatitis human viral hepatitis	IFNG IL2 STAT4 TERT	3458 3558 6775 7015	Homo sapiens (human)	Alliance of Genome Resources
DOID:5154	borna disease Aliases: Enzootic encephalomyelitis	ALDOC ATF4 ATF6 BDNF CD44 CX3CL1 EIF2A IL16 MIF NGF NTF3 NTRK2 NTRK3 PARG PARP1 SLC6A4	142 22926 230 3603 4282 468 4803 4908 4915 4916 627 6376 6532 83939 8505 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070031	autosomal dominant intellectual developmental disorder 1 Aliases: MRD1 autosomal dominant mental retardation 1 autosomal dominant non-syndromic intellectual disability 1	MBD5	55777	Homo sapiens (human)	Alliance of Genome Resources
DOID:3454	brain infarction	ADIPOQ ADM ADNP ALDH2 CACNA2D1 CALCRL CD8A CFH CTSB CYP11B1 CYP11B2 CYP2R1 GPNMB GZMB HGF HIF1A HLA-DQA1 HMGB1 HTR2B ICAM1 IGF2 IL15 IL2 KCNK6 MDK MMP14 MMP8 MMP9 MSI1 NES PARG PDGFB PRCP SCN7A TBXAS1 TNF TPCN2	10203 10457 10763 120227 133 1508 1584 1585 217 219931 23394 3002 3075 3082 3091 3117 3146 3357 3383 3481 3558 3600 4192 4317 4318 4323 4440 5155 5547 6332 6916 7124 781 8505 925 9370 9424	Homo sapiens (human)	Alliance of Genome Resources
DOID:4644	epidermolysis bullosa simplex	CD151 DST KRT5 MMP9 PLEC	3852 4318 5339 667 977	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070217	familial hyperinsulinemic hypoglycemia 6 Aliases: HHF6 HI/HA syndrome hyperinsulinism-hyperammonemia syndrome	GLUD1	2746	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060319	cardiac arrest Aliases: cardiopulmonary arrest circulatory arrest	ABCC8 CCL5 EP300 ITPR1 TNF TRPM4	2033 3708 54795 6352 6833 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111584	dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Aliases: Malouf syndrome Najjar syndrome cardiogenital syndrome cardiomyopathy eith primary testicular failure congestive cardiomyopathy with hypergonadotropic hypogonadism dilated cardiomyopathy with hypergonadotropic hypogonadism dilated cardiomyopathy with premature ovarian failure genital anomaly with cardiomyopathy	LMNA	4000	Homo sapiens (human)	Alliance of Genome Resources
DOID:11695	portal vein thrombosis	F2 IGF1R SERPINE1	2147 3480 5054	Homo sapiens (human)	Alliance of Genome Resources
DOID:2518	orchitis Aliases: Inflammation of testis Orchititis	CCL2 CCL5 CCR5 CD86 IL6R PECAM1	1234 3570 5175 6347 6352 942	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070342	adult-onset type II citrullinemia Aliases: citrin deficiency	SLC25A13	10165	Homo sapiens (human)	Alliance of Genome Resources
DOID:3388	periodontal disease Aliases: disease of supporting structures of teeth periodontium disorder	BRINP3 CD40LG CD80 DSPP IL15 IL16 IL17A IL19 IL21 IL24 IL6 IL7	11009 1834 29949 339479 3569 3574 3600 3603 3605 59067 941 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081110	keratosis palmoplantaris striata 3	KRT1	3848	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110467	autosomal recessive nonsyndromic deafness 12 Aliases: DFNB12 autosomal recessive deafness 12	CDH23	64072	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080238	autosomal dominant intellectual developmental disorder 47 Aliases: autosomal dominant mental retardation 47	STAG1	10274	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060693	Brunner Syndrome Aliases: monoamine oxidase A deficiency	MAOA	4128	Homo sapiens (human)	Alliance of Genome Resources
DOID:11382	corneal neovascularization	FLT1 IL1RN ITGAV MUC4 SERPINF1 TNFAIP6	2321 3557 3685 4585 5176 7130	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D Aliases: Alpha-sarcoglycanopathy DMDA2 Duchenne-like autosomal recessive muscular dystrophy type 2 LGMD2D muscular dystrophy, limb-girdle, type 2D primary adhalinopathy	DAG1 SGCA	1605 6442	Homo sapiens (human)	Alliance of Genome Resources
DOID:2490	congenital nervous system abnormality Aliases: congenital neurologic anomaly	TUBA1A	7846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080055	achondrogenesis type IB Aliases: achondrogenesis Fraccaro type	SLC26A2	1836	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources

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