GlyCosmos Portal

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Alliance of Genome Resources	July 29, 2024
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Displaying entries **151 - 175** of **7942** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0050545	visceral heterotaxy Aliases: heterotaxia situs ambiguus	Phka2	110094	Mus musculus (house mouse)
DOID:0050545	visceral heterotaxy Aliases: heterotaxia situs ambiguus	C14B9.8	176149	Caenorhabditis elegans
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)
DOID:0050547	familial medullary thyroid carcinoma Aliases: THYROID CARCINOMA, FAMILIAL MEDULLARY	CEACAM5 FUT4 MCAT NTM	1048 2526 27349 50863	Homo sapiens (human)
DOID:0050548	hereditary sensory neuropathy Aliases: familial dysautonomia, type II hereditary sensory and autonomic neuropathy	AGXT CYP4F3 GAS1 PKLR SPTLC1 SPTLC2	10558 189 2619 4051 5313 9517	Homo sapiens (human)
DOID:0050557	congenital muscular dystrophy	ACE ACHE AGK AGL APRT B3GALNT2 B4GALNT2 B4GAT1 CHKA CHKB COL6A1 CRPPA DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GK GLB1 GMPPB HPGDS IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 RXYLT1 SDC2 SI SYNJ1 SYNJ2	10329 10585 11041 1119 1120 120071 124872 1291 142 148789 1605 1634 1636 178 1800 2023 2218 2710 2720 27306 29925 29954 3418 353 3612 3633 3958 4153 43 51763 5286 5373 54344 5553 55624 55750 56983 6383 6476 729920 79147 84197 84892 8813 8818 8867 8871 8972 9215	Homo sapiens (human)
DOID:0050557	congenital muscular dystrophy	Col6a1	12833	Mus musculus (house mouse)
DOID:0050558	Ullrich congenital muscular dystrophy Aliases: ULLRICH DISEASE Ullrich scleroatonic muscular dystrophy	COL6A1 CSPG4	1291 1464	Homo sapiens (human)
DOID:0050558	Ullrich congenital muscular dystrophy Aliases: ULLRICH DISEASE Ullrich scleroatonic muscular dystrophy	Col6a1	12833	Mus musculus (house mouse)
DOID:0050559	Fukuyama congenital muscular dystrophy	Fktn	362520	Rattus norvegicus (Norway rat)
DOID:0050559	Fukuyama congenital muscular dystrophy	fktn	100006345	Danio rerio (zebrafish)
DOID:0050559	Fukuyama congenital muscular dystrophy	Dg	36773	Drosophila melanogaster (fruit fly)
DOID:0050559	Fukuyama congenital muscular dystrophy	B3GALNT2 B4GAT1 CD109 CRPPA DAG1 FKRP FKTN GMPPB LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1	10329 10585 11041 135228 148789 1605 2218 29925 29954 55624 729920 79147 84197 84892 9215	Homo sapiens (human)
DOID:0050559	Fukuyama congenital muscular dystrophy	T07A5.1 T07D3.4 W02B3.4	173469 188207 189104	Caenorhabditis elegans
DOID:0050559	Fukuyama congenital muscular dystrophy	fktn	100124956	Xenopus tropicalis (tropical clawed frog)
DOID:0050559	Fukuyama congenital muscular dystrophy	Fktn	246179	Mus musculus (house mouse)
DOID:0050559	Fukuyama congenital muscular dystrophy	fktn.S	495324	Xenopus laevis (African clawed frog)
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	PMT2 PMT3 PMT4 PMT6	851210 853113 853608 854499	Saccharomyces cerevisiae S288C
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	B4gat1 Fkrp Fktn Pomgnt1 Pomt1 Pomt2 Rxylt1	108902 216395 217734 243853 246179 68273 99011	Mus musculus (house mouse)
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	CG15651 CG3253 rt tw	31024 37375 37861 39297	Drosophila melanogaster (fruit fly)
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	ALG1 B3GALNT2 B3GNT2 B4GAT1 CRPPA DAG1 FKRP FKTN GMPPB LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1	10329 10585 10678 11041 148789 1605 2218 29925 29954 55624 56052 729920 79147 84197 84892 9215	Homo sapiens (human)
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	b4gat1 fkrp fktn pomgnt1 pomt1 pomt2 rxylt1	100006345 101669768 557187 563878 569769 571426 571876	Danio rerio (zebrafish)
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	B4gat1 Fkrp Fktn Pomgnt1 Pomt1 Pomt2 Rxylt1	293667 299841 308390 362520 362567 688673 84430	Rattus norvegicus (Norway rat)
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	b4gat1 fkrp fktn pomgnt1 pomt1 pomt2 rxylt1	100124956 100145309 100145540 100158594 100170600 100490100 448433	Xenopus tropicalis (tropical clawed frog)
DOID:0050560	Walker-Warburg syndrome Aliases: HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome	fkrp.L fktn.S pomgnt1.L pomgnt1.S pomt1.S pomt2.L	108698503 108698684 108699937 414570 495292 495324	Xenopus laevis (African clawed frog)

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