GlyCosmos Portal

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

Displaying entries **9126 - 9150** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0080217	lysosomal acid lipase deficiency Aliases: LAL deficiency LAL-D	LIPA	3988	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070053	autosomal dominant intellectual developmental disorder 23 Aliases: MRD23 autosomal dominant mental retardation 23 autosomal dominant non-syndromic intellectual disability 23	SETD5	55209	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050645	arterial tortuosity syndrome	EFEMP2 SLC2A10	30008 81031	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070045	Coffin-Siris syndrome 3 Aliases: CSS3 MRD15 autosomal dominant mental retardation 15	SMARCB1	6598	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050749	peripheral T-cell lymphoma	IRF4 RC3H1	149041 3662	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050644	arterial calcification of infancy Aliases: generalized arterial calcification of infancy idiopathic infantile arterial calcification infantile arteriosclerosis	ABCC6 ENPP1	368 5167	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050804	glioblastoma proneural subtype	RB1	5925	Homo sapiens (human)	Alliance of Genome Resources
DOID:419	scleroderma Aliases: dermatosclerosis	HLA-A	3105	Homo sapiens (human)	Alliance of Genome Resources
DOID:8456	choline deficiency disease Aliases: choline deficiency	DNMT1 DNMT3L	1786 29947	Homo sapiens (human)	Alliance of Genome Resources
DOID:2247	spondylosis Aliases: Lumbar spondylosis with myelopathy Spondylogenic compression of lumbar spinal cord Spondylogenic compression of thoracic spinal cord Thoracic or lumbar spondylosis with myelopathy lumbosacral spondylosis without myelopathy spondylosis with myelopathy	KL	9365	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110515	autosomal recessive nonsyndromic deafness 63 Aliases: DFNB63 autosomal recessive deafness 63	LRTOMT	220074	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110241	cataract 41 Aliases: CTRCT41 congenital nuclear type cataract 41	WFS1	7466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110978	brachydactyly type A1D Aliases: BDA1D	BMPR1B	658	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080393	nephrotic syndrome type 18	NUP133	55746	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050902	medulloblastoma Aliases: CNS PNET CPNET Medulloblastoma, histologically defined brain medulloblastoma infratentorial primitive neuroectodermal tumor localized primitive neuroectodermal tumor	APC BRCA2 CTNNB1 GPR161 IFNG KDM4C PDGFRA PTCH1 PTCH2 SMO TP53 TSC2	1499 23081 23432 324 3458 5156 5727 6608 675 7157 7249 8643	Homo sapiens (human)	Alliance of Genome Resources
DOID:8850	salivary gland cancer Aliases: malignant neoplasm of salivary gland	GON4L	54856	Homo sapiens (human)	Alliance of Genome Resources
DOID:3770	pulmonary fibrosis Aliases: Fibrosis of lung	ACE AGER AGT ALOX5 ANXA1 AP3B1 B3GAT1 BAD BDKRB1 BDNF CAT CCL11 CCL2 CCN2 CCR4 CCR5 CD36 CDH1 CHI3L1 CHRM3 COL1A1 COL1A2 CSF2 CYSLTR1 DEFB1 DNM1L EDN1 EGFR EGR1 ELANE HABP2 HGF HSP90AB1 HSPD1 ICAM1 IGFBP3 IGFBP5 IL13 IL15 IL17A IL18R1 IL1A IL1RN IL4 JAG1 MBL2 MMP1 MMP9 MUC5AC NFE2L2 NGF NOTCH1 PDGFRA PLAU PTGS2 SERPINE1 SFTPA1 SFTPB SFTPC SMAD4 STAT1 TFPI TGFB1 TGFBR2 TIMP1 TLR9 TNF TWIST1 VWF	10059 10800 1116 1131 1233 1234 1277 1278 1437 1490 1636 1672 177 182 183 1906 1956 1958 1991 240 27087 301 3026 3082 3326 3329 3383 3486 3488 3552 3557 3565 3596 3600 3605 4089 4153 4312 4318 4586 4780 4803 4851 5054 5156 5328 54106 572 5743 623 627 6347 6356 6439 6440 653509 6772 7035 7040 7048 7076 7124 7291 7450 847 8546 8809 948 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060205	frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Aliases: ALS14 amyotrophic lateral sclerosis 14 amyotrophic lateral sclerosis type 14 amyotrophic lateral sclerosis, with or without frontotemporal dementia	VCP	7415	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111135	congenital generalized lipodystrophy type 1 Aliases: Berardinelli-Seip Congenital Lipodystrophy, Type 1 Brunzell syndrome AGPAT2-related	AGPAT2	10555	Homo sapiens (human)	Alliance of Genome Resources
DOID:3033	colon signet ring adenocarcinoma Aliases: Colonic Signet Ring adenocarcinoma	RUNX1	861	Homo sapiens (human)	Alliance of Genome Resources
DOID:8622	measles Aliases: morbilli	B2M MUC1	4582 567	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111722	amelogenesis imperfecta type 3C Aliases: AI3C amelogenesis imperfecta type IIIC autosomal recessive amelogenesis imperfecta hypocalcification type	RELT	84957	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070466	carpal tunnel syndrome 1 Aliases: CTS1	TTR	7276	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060836	isolated microphthalmia 4 Aliases: MCOP4	GDF6	392255	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080141	mosaic variegated aneuploidy syndrome 1	BUB1B	701	Homo sapiens (human)	Alliance of Genome Resources

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