GlyCosmos Portal

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

Displaying entries **301 - 325** of **15957** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0050540	Charcot-Marie-Tooth disease type 3 Aliases: DEJERINE-SOTTAS NEUROPATHY DEJERINE-SOTTAS SYNDROME	mpz	780198	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0050540	Charcot-Marie-Tooth disease type 3 Aliases: DEJERINE-SOTTAS NEUROPATHY DEJERINE-SOTTAS SYNDROME	EGR2 MPZ PMP22	1959 4359 5376	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050540	Charcot-Marie-Tooth disease type 3 Aliases: DEJERINE-SOTTAS NEUROPATHY DEJERINE-SOTTAS SYNDROME	Mpz Pmp22	17528 18858	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050545	visceral heterotaxy Aliases: heterotaxia situs ambiguus	gdf3 mmp21	100003089 30125	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050545	visceral heterotaxy Aliases: heterotaxia situs ambiguus	Acvr2b Cc2d1a Cep290 Cfc1 Cox5a Dnah11 Dnah5 Dnai1 Drc1 Gdf1 Megf8 Mmp21 Nodal Pcsk5 Phka2 Slit2 Tmem67 Zic3	110082 110094 11481 12627 12858 13411 14559 18119 18552 20563 212139 214766 216274 22773 269878 329795 381738 68922	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050545	visceral heterotaxy Aliases: heterotaxia situs ambiguus	KEX2	855483	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050545	visceral heterotaxy Aliases: heterotaxia situs ambiguus	C14B9.8 daf-4 kpc-1	173051 175781 176149	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050545	visceral heterotaxy Aliases: heterotaxia situs ambiguus	gdf3 nodal1 nodal3	394458 493288 549075	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0050545	visceral heterotaxy Aliases: heterotaxia situs ambiguus	acvr2b.L mmp21.L nodal.L	378572 398068 399277	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0050545	visceral heterotaxy Aliases: heterotaxia situs ambiguus	Acvr2b Cox5a Pcsk5	116548 252934 25366	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050545	visceral heterotaxy Aliases: heterotaxia situs ambiguus	CG7766 Fur2 sli	31839 32604 36746	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050545	visceral heterotaxy Aliases: heterotaxia situs ambiguus	ACVR2B BICC1 CC2D1A CC2D2A CCDC39 CFAP53 CFC1 CFC1B DNAAF3 DNAH11 DNAH5 DRC1 FOXH1 GDF1 IFT74 MEGF8 MMP21 NODAL ODAD2 OSBPL1A PCSK5 PHKA2 PKD1L1 PSME4 SLIT2 TBC1D32 TMEM67	114876 118856 168507 1767 1954 220136 221322 23198 2657 339829 352909 4838 5125 5256 54862 55130 55997 57545 653275 80114 80173 8701 8928 91147 92749 93 9353	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050546	congenital adrenal insufficiency Aliases: ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE Adrenal insufficiency, congenital, with 46,XY sex reversal P450scc DEFICIENCY	CYP11A1	1583	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050547	familial medullary thyroid carcinoma Aliases: THYROID CARCINOMA, FAMILIAL MEDULLARY	ret	30512	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050547	familial medullary thyroid carcinoma Aliases: THYROID CARCINOMA, FAMILIAL MEDULLARY	Prlr Ret	24684 24716	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050547	familial medullary thyroid carcinoma Aliases: THYROID CARCINOMA, FAMILIAL MEDULLARY	Prlr Ret	19116 19713	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050547	familial medullary thyroid carcinoma Aliases: THYROID CARCINOMA, FAMILIAL MEDULLARY	PRLR RET	5618 5979	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050547	familial medullary thyroid carcinoma Aliases: THYROID CARCINOMA, FAMILIAL MEDULLARY	ret.S	373625	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0050548	hereditary sensory neuropathy Aliases: familial dysautonomia, type II hereditary sensory and autonomic neuropathy	Ntrk1 Scn11a Wnk1	116477 29701 59109	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050548	hereditary sensory neuropathy Aliases: familial dysautonomia, type II hereditary sensory and autonomic neuropathy	para shot	32619 36542	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050548	hereditary sensory neuropathy Aliases: familial dysautonomia, type II hereditary sensory and autonomic neuropathy	CCT4 DNMT1 DST NTRK1 SCN11A SPTLC1 WNK1	10558 10575 11280 1786 4914 65125 667	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050548	hereditary sensory neuropathy Aliases: familial dysautonomia, type II hereditary sensory and autonomic neuropathy	CCT4	851412	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050548	hereditary sensory neuropathy Aliases: familial dysautonomia, type II hereditary sensory and autonomic neuropathy	Dnmt1 Dst Ntrk1 Scn11a Wnk1	13433 13518 18211 232341 24046	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050554	X-linked sideroblastic anemia with ataxia Aliases: Anemia sideroblastic and spinocerebellar ataxia Anemia, sideroblastic, spinocerebellar ataxia X-linked sideroblastic anaemia and ataxia X-linked sideroblastic anaemia with ataxia X-linked sideroblastic anemia and ataxia	ABCB7	22	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050557	congenital muscular dystrophy	Dync1h1 Lmnb1	116685 29489	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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