GlyCosmos Portal

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

Displaying entries **4176 - 4200** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0050453	lissencephaly	ARX CDK15 CDK5 CDK5R2 DAG1 DYNC1H1 NOS1 NOS2 NOS3 PAFAH1B1 POMGNT1 POMT1 POMT2 TUBA1A TUBA1B TUBA1C TUBA4A WDR75	1020 10376 10585 1605 170302 1778 29954 4842 4843 4846 5048 55624 65061 7277 7846 84128 84790 8941	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060181	ischemic colitis	srp-3	178672	Caenorhabditis elegans	Alliance of Genome Resources
DOID:4471	chromophobe renal cell carcinoma Aliases: Chromophobe carcinoma of kidney chromophobe adenocarcinoma kidney chromophobe renal cell carcinoma, chromophobe cell	HNF1A	6927	Homo sapiens (human)	Alliance of Genome Resources
DOID:2234	focal epilepsy Aliases: localisation-related epilepsy partial epilepsy	IML1	853603	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050753	cerebellar ataxia	L2HGDH Msp300 cac	32158 35156 3771968	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:557	kidney disease Aliases: impaired renal function disease nephropathy	ABCC3 ADRB2 AMN APOL1 APOL3 BMP7 CASP9 CCL2 CCL5 CDC42 COL4A1 CTLA4 CUBN F7 FGR G6PD GBA3 HAVCR1 HCK HNF1A KAT2A KAT2B KIRREL1 KIRREL2 KL KLB LCN2 LCT LCTL LIPC MIF MKI67 MLXIPL MMP9 MYH9 NFATC1 NPHS1 PALS1 PPP3CA RAC1 RAC2 RAC3 RAMP2 RELB SRC SREBF1 SREBF2 STOM TGFBI TGFBR1 TGFBR2 TNF TNFRSF1A TRPC6 UMOD VPS33B XYLT1	10266 1282 1493 152831 154 197021 2040 2155 2268 2539 26276 2648 26762 3055 3934 3938 3990 4282 4288 4318 4627 4772 4868 51085 55243 5530 57733 5879 5880 5881 5971 6347 6352 64131 64398 655 6714 6720 6721 6927 7045 7046 7048 7124 7132 7225 7369 8029 80833 81693 84063 842 8542 8714 8850 9365 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:14497	Wolman disease Aliases: Acid esterase deficiency Acid lipase deficiency Wolman xanthomatosis Wolman's disease Wolman's or triglyceride storage type III disease Xanthomatosis, familial acute infantile lysosomal acid lipase deficiency complete LAL deficiency complete LIPA deficiency complete cholesterol ester hydrolase deficiency complete lysosomal acid lipase deficiency	lipl-1 lipl-2 lipl-3 lipl-4 lipl-5	178563 178572 179046 179771 185840	Caenorhabditis elegans	Alliance of Genome Resources
DOID:4988	alcoholic pancreatitis	Cftr Ugt1a7c Ugt1a8	154516 24255 301595	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1701	steroid inherited metabolic disorder	Hsd17b7	29540	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:615	leukopenia Aliases: Leucopenia	CXCR4 PLAT	5327 7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:62	aortic valve disease	Adamts19 Egfr Nos3	13649 18127 240322	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050156	idiopathic pulmonary fibrosis Aliases: FIBROCYSTIC PULMONARY DYSPLASIA IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL cryptogenic fibrosing alveolitis	W01C8.5 ddr-2 parp-1 zmp-3	178748 180622 180836 266823	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1107	esophageal carcinoma Aliases: cancer of esophagus cancer of oesophagus carcinoma of esophagus carcinoma of oesophagus	Slc7a5 Stat3	20539 20848	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110274	autosomal recessive limb-girdle muscular dystrophy	Hmgcr Ser rumi tn tw	31024 326122 37190 42803 43275	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:14679	VACTERL association	DYNC2H1 FN1 PCSK5 QSOX1 SHH TBC1D32	221322 2335 5125 5768 6469 79659	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110336	osteogenesis imperfecta type 8 Aliases: OI8 osteogenesis imperfecta type VIII	Y73F8A.26	178435	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080416	developmental and epileptic encephalopathy 32 Aliases: DEE32 early infantile epileptic encephalopathy 32	Kcna2	25468	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1697	ichthyosis Aliases: ichthyoses non-syndromic ichthyosis	IGFBP3 KRT2 MDM2	3486 3849 4193	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111046	platelet-type bleeding disorder 10 Aliases: BDPLT10 CD36 deficiency platelet glycoprotein IV deficiency	Snmp2	38868	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050475	Weill-Marchesani syndrome Aliases: GEMSS syndrome Marchesani-Weill Syndrome Mesodermal Dysmorphodystrophy, Congenital Spherophakia Brachymorphia Syndrome congenital mesodermal dystrophy	ADAMTS10 ADAMTS17 FBN1 LTBP2 TNF	170691 2200 4053 7124 81794	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080079	nonsyndromic congenital nail disorder 1 Aliases: nonsyndromic congenital nail disorder 10 twenty-nail dystrophy	Fzd6	14368	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080565	congenital disorder of glycosylation Im Aliases: DOLK-congenital disorder of glycosylation congenital disorder of glycosylation 1m dolichol kinase deficiency	Dolk	36856	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0081120	Graves ophthalmopathy Aliases: Graves orbitopathy Thyroid associated ophthalmopathy thyroid eye disease	Ccl2 Icam1 Ifng Il10 Il1a Il1rn Il2 Pparg Serpine1 Tnf Tshr	116562 24493 24617 24770 24835 25325 25360 25464 25664 25712 60582	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:104	bacterial infectious disease	H2-Ab1 H2-Eb1 Il10 Il2 Magt1 Mbl2 Rela Sdc4 Tusc3	14961 14969 16153 16183 17195 19697 20971 67075 80286	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3613	Canavan disease Aliases: ACY2 DEFICIENCY AMINOACYLASE 2 DEFICIENCY ASP DEFICIENCY ASPA DEFICIENCY ASPARTOACYLASE DEFICIENCY CANAVAN-VAN BOGAERT-BERTRAND DISEASE Spongy degeneration of central nervous system	Sod2	20656	Mus musculus (house mouse)	Alliance of Genome Resources

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