GlyCosmos Portal

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

Displaying entries **426 - 450** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0060299	complement component 6 deficiency	C6	729	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060300	complement component 7 deficiency	C7	730	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060301	type I complement component 8 deficiency	C8A	731	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060302	type II complement component 8 deficiency	C8B	732	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060303	complement component 9 deficiency	C9	735	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060304	dyschromatosis universalis hereditaria	ABCB6	10058	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060305	megalocornea Aliases: anterior megalophthalmos congenital anterior megalophthalmia	LTBP2	4053	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060306	Meier-Gorlin syndrome Aliases: ear-patella-short stature syndrome	BMP5	653	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060307	autosomal dominant intellectual developmental disorder Aliases: autosomal dominant mental retardation autosomal dominant non-syndromic mental retardation	AP2M1 AUTS2 CAMK2G DIP2B GRIA1 HNRNPC KMT2B LMAN2L MBD5 MED13 RFX7 SET SETD2 SRRM2 TAF4 TLK2 TRIO ZNF292	11011 1173 23036 23524 26053 2890 29072 3183 55777 57609 6418 64864 6874 7204 81562 818 9757 9969	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060308	autosomal recessive intellectual developmental disorder Aliases: autosomal recessive mental retardation autosomal recessive non-syndromic mental retardation	ASCC3 CNTNAP1 CNTNAP2 CNTNAP3 CNTNAP3B CNTNAP4 CNTNAP5 TPR ZC3H14	10973 129684 26047 7175 728577 79882 79937 8506 85445	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060309	syndromic X-linked intellectual disability Aliases: syndromic X-linked mental retardation	ARX ATP6AP2 CASK DDX3X HUWE1 NKAP PHF2 PHF8 ZFX	10075 10159 1654 170302 23133 5253 7543 79576 8573	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060318	acute promyelocytic leukemia Aliases: acute myeloblastic leukaemia type 3 acute myeloblastic leukemia type 3 acute myeloid leukaemia M3 acute myeloid leukemia M3 acute promyelocytic leukaemia	F3 KMT2E MYC NCAM1 PLAT SENP7	2152 4609 4684 5327 55904 57337	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060319	cardiac arrest Aliases: cardiopulmonary arrest circulatory arrest	ABCC8 CCL5 EP300 ITPR1 TNF TRPM4	2033 3708 54795 6352 6833 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060322	mastoiditis	RELA TLR2 TLR4	5970 7097 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060326	myelomeningocele	SLC2A1	6513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060327	omphalocele Aliases: omphalocoele	LRP1	4035	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060334	transient neonatal diabetes mellitus	ABCC8	6833	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060335	autosomal dominant sideroblastic anemia 4	HSPA9	3313	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060337	CEDNIK syndrome Aliases: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome	SNAP29	9342	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060340	ciliopathy	CC2D1A CC2D2A DNAI4 INVS PKD2 PRKG1 RPGRIP1L SPRY2 TEKT1 TMEM67 TTC8	10253 123016 23322 27130 5311 54862 5592 57545 79819 83659 91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060341	agnathia-otocephaly complex Aliases: agnathia-holoprosencephaly-situs inversus syndrome dysgnathia complex agnathia-holoprosencephaly holoprosencephaly-agnathia otocephaly	FOXH1	8928	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060342	acromelic frontonasal dysostosis	ZSWIM6	57688	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060348	hypoparathyroidism-retardation-dysmorphism syndrome Aliases: HRD syndrome Sanjad-Sakati syndrome hypoparathyroidism with short stature, mental retardation and seizures	GATA3 TBCE	2625 6905	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060349	microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Aliases: chorioretinal dysplasia-microcephaly-mental retardation syndrome lymphedema and retinal folds with ficrocephaly and microphthalmos lymphedema, microcephaly and chorioretinopathy syndrome microcephaly lymphedema chorioretinal dysplasia microcephaly, lymphedema, chorioretinal dysplasia syndrome	KIF11	3832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060350	adenine phosphoribosyltransferase deficiency Aliases: 2,8-dihydroxyadenine urolithiasis APRT deficiency	APRT	353	Homo sapiens (human)	Alliance of Genome Resources

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