GlyCosmos Portal

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

Displaying entries **5826 - 5850** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0110199	Charcot-Marie-Tooth disease dominant intermediate C Aliases: CMTDIC Charcot-Marie-Tooth neuropathy dominant intermediate C DI-CMTC autosomal dominant intermediate Charcot-Marie-Tooth disease type C	YARS1	8565	Homo sapiens (human)	Alliance of Genome Resources
DOID:1273	respiratory syncytial virus infectious disease Aliases: RSV respiratory syncytial virus	ACE2 CCR5 CD28 HLA-G ICAM1 IFNG IL10 IL17A IL5RA IL6 IL9 NGF NGFR PDCD1 SFTPA1 SFTPB SFTPC SFTPD TACR1 TLR4 TLR7 TLR8 TSLP	1234 3135 3383 3458 3568 3569 3578 3586 3605 4803 4804 51284 51311 5133 59272 6439 6440 6441 653509 6869 7099 85480 940	Homo sapiens (human)	Alliance of Genome Resources
DOID:2361	macrocytic anemia Aliases: ANEMIA MACROCYTIC Macrocytic anaemia	KIT	3815	Homo sapiens (human)	Alliance of Genome Resources
DOID:5426	primary ovarian insufficiency Aliases: hypergonadotropic hypogonadism premature ovarian failure premature ovarian insufficiency	BBS9 BMP15 DMRT3 EXO1 KASH5 MEIOB MLH1 MOV10L1 MRPL50 MRPS22 MSH2 MSH4 MSH6 NPM1 NPM2 USP17L3 USP42 VCP WDR33 XPO5	10361 147872 254528 27241 2956 4292 4436 4438 4869 54456 54534 55339 56945 57510 58524 645836 7415 84132 9156 9210	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060717	autosomal recessive congenital ichthyosis 8 Aliases: ARCI8 lamellar ichthyosis 4 late-onset lamellar ichthyosis	LIPN	643418	Homo sapiens (human)	Alliance of Genome Resources
DOID:9973	substance dependence	CREB1 FOSB	1385 2354	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	ACSL1 ADAM10 ADIPOQ AMN ASAH2 ATP5F1B BAG3 CASR CCL2 COL15A1 COL18A1 CXCR4 DES DGAT1 DOC2B DTNA EGFR ELAC2 EP300 ERBB2 ERBB3 ERBB4 GOT1 HDAC3 HFE HRAS IFNG IGF1R ITGA7 JPH1 JPH4 JUND JUP KLK1 KRAS LDB3 LEMD2 LRP1 MIF MLYCD MMP2 MMP9 MYH15 MYH1 MYH7 NCAM1 NONO NOS1 NOS3 NRAS PDLIM5 PDLIM7 POMT1 PPARGC1A PPP3CA RAF1 RRAGC SDHA SGCD SGCG SGCZ SLC22A5 SLC31A1 SLC4A1 SOD2 SPARC SPARCL1 SPHK1 SPHK2 SRF TAB2 TNF TNNI3 TSHR UTS2R	102 10585 10611 10891 11155 1306 1317 137868 1674 1837 1956 2033 2064 2065 2066 2180 221496 22989 23118 23417 2805 2837 3077 3265 3458 3480 3679 3727 3728 3816 3845 4035 4282 4313 4318 4619 4625 4684 4841 4842 4846 4893 506 5530 56624 56704 56848 5894 60528 6347 6389 64121 6444 6445 6521 6584 6648 6678 6722 7124 7137 7253 7852 80781 81693 8404 8447 84502 846 8694 8841 8877 9260 9370 9531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111788	Melnick-Needles syndrome Aliases: MNS Melnick-Needles osteodysplasty osteodysplasty of Melnick and Needles	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111862	congenital bilateral absence of vas deferens Aliases: CAVD CBAVD congenital bilateral agenesis of vas deferens congenital bilateral aplasia of vas deferens	CFTR	1080	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070340	classic citrullinemia	ASS1	445	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:0111808	linear skin defects with multiple congenital anomalies 1 Aliases: MCOPS7 MIDAS syndrome Microphthalmia with linear skin defect syndrome microphthalmia-dermal aplasia-sclerocornea syndrome syndromic microphthalmia 7 syndromic microphthalmia type 7	HCCS	3052	Homo sapiens (human)	Alliance of Genome Resources
DOID:11633	thyroid hormone resistance syndrome Aliases: Generalized thyroid hormone resistance Refetoff syndrome Thyroid hormone responsiveness defect thyroid hormone resistance	NCOA1 THRA	7067 8648	Homo sapiens (human)	Alliance of Genome Resources
DOID:3426	vestibular disease Aliases: Vertigo, vestibular disorder	KCNA10	3744	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060776	congenital diarrhea 5 with tufting enteropathy Aliases: DIAR5 congenital diarrhoea 5 with tufting enteropathy congenital familial intractable diarrhea with epithelial or epithelium abnormalities congenital familial intractable diarrhoea with epithelial or epithelium abnormalities congenital tufting enteropathy tufting enteropathy	EPCAM	4072	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081294	neuronal intranuclear inclusion disease	OPTN	10133	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080226	autosomal dominant intellectual developmental disorder 56 Aliases: autosomal dominant intellectual developmental disorder-56 autosomal dominant mental retardation 56	CLTC	1213	Homo sapiens (human)	Alliance of Genome Resources
DOID:2569	retinal drusen	CFH	3075	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050562	West syndrome	ABAT CFL1 MC2R STXBP1	1072 18 4158 6812	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050974	spinocerebellar ataxia type 25	PNPT1	87178	Homo sapiens (human)	Alliance of Genome Resources
DOID:678	progressive supranuclear palsy Aliases: Steele-Richardson-Olszewski syndrome progressive supranuclear ophthalmoplegia	MAP2K6 MAPT OGG1 SOD1 TARDBP	23435 4137 4968 5608 6647	Homo sapiens (human)	Alliance of Genome Resources
DOID:962	neurofibroma	KIT	3815	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080284	developmental and epileptic encephalopathy 57 Aliases: DEE57 early infantile epileptic encephalopathy 57	KCNT2	343450	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070293	primary autosomal recessive microcephaly 2 with or without cortical malformations Aliases: MCPH2	MAPKBP1 WDR62	23005 284403	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050156	idiopathic pulmonary fibrosis Aliases: FIBROCYSTIC PULMONARY DYSPLASIA IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL cryptogenic fibrosing alveolitis	AKT1 APOA1 BRD4 DDR1 EHMT2 EP300 F3 FGFR2 FOSL2 HLA-DRB1 IL1RL1 IL2RA MMP1 MMP3 MUC1 MUC5B NTRK2 PARP1 PTGS2 SETD2 SFTPA2 SMAD6 STAT3 TERT TFPI THBD TNF	10919 142 2033 207 2152 2263 23476 2355 29072 3123 335 3559 4091 4312 4314 4582 4915 5743 6774 7015 7035 7056 7124 727897 729238 780 9173	Homo sapiens (human)	Alliance of Genome Resources

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