GlyCosmos Portal

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

Displaying entries **7926 - 7950** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0050214	Lambert-Eaton myasthenic syndrome Aliases: Eaton-Lambert syndrome LEMS Lambert-Eaton syndrome	CACNA1A CACNA1B CHRM1	1128 773 774	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111976	immunodeficiency 9 Aliases: CID due to ORAI1 deficiency IMD9 combined immunodeficiency due to ORAI1 deficiency immune dysfunction with T-cell inactivation due to calcium entry defect 1	ORAI1	84876	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080473	developmental delay and seizures with or without movement abnormalities	DHDDS	79947	Homo sapiens (human)	Alliance of Genome Resources
DOID:9362	status asthmaticus Aliases: Asthma with status asthmaticus Severe asthma attack	IL5 MPO	3567 4353	Homo sapiens (human)	Alliance of Genome Resources
DOID:3234	central nervous system lymphoma Aliases: Microglioma primary CNS lymphoma	BTK CD79B IL10 MYD88	3586 4615 695 974	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1 Aliases: CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1	B4GAT1 DAG1 FKRP FKTN INPP5K LARGE1 POMGNT1 POMT1	10585 11041 1605 2218 51763 55624 79147 9215	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112075	nuclear type mitochondrial complex I deficiency 10 Aliases: MC1DN10	NDUFAF2	91942	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070158	hereditary sensory neuropathy type 1E Aliases: HSN1E hereditary sensory neuropathy type IE	DNMT1	1786	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050424	familial adenomatous polyposis Aliases: adenomatous polyposis of the colon	APC IHH MUTYH PLCG1	324 3549 4595 5335	Homo sapiens (human)	Alliance of Genome Resources
DOID:1790	malignant mesothelioma Aliases: Diffuse malignant Mesothelioma advanced malignant mesothelioma asbestos-related malignant mesothelioma malignant tumor of Mesothelium	ACVR1B MCAM SETD2 XRCC1	29072 4162 7515 91	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111263	combined malonic and methylmalonic acidemia Aliases: CMAMMA combined malonic and methylmalonic aciduria	ACSF3	197322	Homo sapiens (human)	Alliance of Genome Resources
DOID:9513	plasma cell leukemia Aliases: plasma cell leukaemia plasmacytic leukaemia plasmacytic leukemia	CD40 TERT	7015 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080459	developmental and epileptic encephalopathy 12 Aliases: DEE12 early infantile epileptic encephalopathy 12	PLCB1	23236	Homo sapiens (human)	Alliance of Genome Resources
DOID:10591	pre-eclampsia Aliases: gestational hypertension hypertension induced by pregnancy pre-eclamptic toxaemia preeclampsia preeclampsia/eclampsia pregnancy associated hypertension pregnancy toxemia proteinuric hypertension of pregnancy toxaemia of pregnancy	ACE ACVR2B ADD1 AGT AKR1C3 ALB APELA ARID1A ATP2B4 C3 CALB1 CCL5 CCN3 CD274 CD40 CD40LG CD46 CHI3L1 CLU COMT CORIN CREBBP CUBN CYP11B2 CYP24A1 CYP27B1 CYP2J2 CYP2R1 DNAH8 EBI3 EDN2 ENG ENTPD1 EPAS1 ERBB2 F2 F2R F3 F5 FAS FASLG FLT1 GATA2 GC GPX1 GPX3 GSN HIF1A HLA-A HLA-DQB1 HNF1A HP HSD11B1 ICAM1 IL1RN IL6 ITGA4 ITGAM ITPR1 ITPR2 ITPR3 KCNN4 LCN2 LEP LEPR MMP2 MMP9 NOS3 NOTCH2 NR1H3 OGG1 PDCD1 PDE5A PEG10 PGF PLAUR PPARG PROC PTGS1 PTPN2 RBP4 ROBO1 ROBO4 RYR1 RYR2 RYR3 SERPINA1 SERPINE1 SERPINF2 SLC2A1 TFPI TIMP1 TLR3 TLR4 TNF TNFRSF1B TRPV5 TRPV6 VEGFA	100506013 10062 10148 10699 1116 118 1191 120227 1312 1387 1573 1585 1591 1594 1636 1769 183 1907 2022 2034 2064 213 2147 2149 2152 2153 23089 2321 2624 2638 2876 2878 29126 2934 3091 3105 3119 3240 3290 3383 355 3557 356 3569 3676 3684 3708 3709 3710 3783 3934 3952 3953 4179 4313 4318 4846 4853 4856 493 4968 5054 5133 5228 5265 5329 5345 54538 5468 55503 5624 56302 5742 5771 5950 6091 6261 6262 6263 6352 6513 6927 7035 7076 7098 7099 7124 7133 718 7422 793 8029 8289 8644 8654 93 953 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070521	peeling skin syndrome 2 Aliases: PSS2	TGM5	9333	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111394	mucopolysaccharidosis type IIIB Aliases: MPS3B MPSIIIB Mucopoly-saccharidosis type 3B Mucopolysaccharidosis type 3B N-acetyl-alpha-glucosaminidase deficiency NAGLU deficiency Sanfilippo syndrome type B mucopolysaccharidosis type IIIB (Sanfilippo B)	GNS NAGLU SGSH	2799 4669 6448	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110728	neuronal ceroid lipofuscinosis 5 Aliases: CLN5 neuronal ceroid lipofuscinosis 5 variable age of onset	CLN5	1203	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:11450	allergic cutaneous vasculitis Aliases: Allergic Cutaneous Angiitis Autoimmune Hypersensitivity angiitis	CSF3	1440	Homo sapiens (human)	Alliance of Genome Resources
DOID:285	hairy cell leukemia	GPX1 IL1RN	2876 3557	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110111	atrial heart septal defect 6 Aliases: ASD6 atrial septal defect 6	TLL1	7092	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050464	Farber lipogranulomatosis Aliases: Farber disease N-laurylsphingosine deacylase deficiency acid ceramidase deficiency	ASAH1	427	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080797	nasal type extranodal NK/T-cell lymphoma	ABCB1 CD274 FAS GPX3 PRDM1 STAT3	2878 29126 355 5243 639 6774	Homo sapiens (human)	Alliance of Genome Resources
DOID:83	cataract	ADAM10 AKR1B1 ALDH18A1 ANXA1 B2M BCOR BRCA2 CASP9 CAT CCK CCL11 CDKN1B CRIM1 CRYAA CRYAB CTH DNASE2B FAS FDFT1 G6PD GALK1 GCLC GCNT2 GPX1 HSF4 INTS1 LIM2 LSS MAP2K1 MMP3 NFE2L2 NR3C1 OGG1 PIK3C2A PIKFYVE PON1 PSMC3 RBM24 SIPA1L3 SLC2A14 SLC2A3 SLC45A2 SLC9A1 SOD1 SORD TRPM3 VPS13B WFS1	102 1027 1409 1410 144195 1491 157680 200576 221662 2222 23094 231 2539 2584 26173 2651 2729 2876 2908 301 3299 355 3982 4047 4314 4780 4968 51151 51232 5286 5444 54880 5604 567 5702 5832 58511 6356 6515 6548 6647 6652 675 7466 80036 842 847 885	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060285	parietal foramina Aliases: Caitlin marks enlarged parietal foramina hereditary cranium bifidum	ALX4	60529	Homo sapiens (human)	Alliance of Genome Resources

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