GlyCosmos Portal

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

Displaying entries **4926 - 4950** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0050651	atrioventricular septal defect Aliases: AVCD AVSD ECD atrioventricular canal defect endocardial cushion defect	BMP4 CCN1 CRELD1 DNAH11 GATA4 NR1D2	2626 3491 652 78987 8701 9975	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111043	glycogen storage disease IXc Aliases: GSD type 9C GSD type IXc GSD9C glycogen storage disease type 9C glycogen storage disease type IXc glycogenosis type 9C glycogenosis type IXc	PHKG2	5261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111561	stiff skin syndrome Aliases: SSKS	FBN1	2200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050942	spastic ataxia 3	MARS2	92935	Homo sapiens (human)	Alliance of Genome Resources
DOID:3457	invasive lobular carcinoma Aliases: Lobular carcinoma Lobular carcinoma of breast Lobular carcinoma of the breast	CD44 CDH1 CTNNA1 CTNNB1 ERBB2 FASLG STAT5A	1495 1499 2064 356 6776 960 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:10914	amnestic disorder Aliases: Amnestic syndrome Korsakoff's psychosis or syndrome amnesia	BCHE BDNF CREB1 DRD3 HRH3 HTR7 IRS1 IRS2 IRS4 MAPT	11255 1385 1814 3363 3667 4137 590 627 8471 8660	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112354	spermatogenic failure 65 Aliases: SPGF65	DNHD1	144132	Homo sapiens (human)	Alliance of Genome Resources
DOID:10112	sleeping sickness Aliases: African sleeping sickness African trypanosomiasis	FOS NOS2 PIGB	2353 4843 9488	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111903	thrombophilia due to HRG deficiency Aliases: THPH11 hereditary thrombophilia due to congenital HRG deficiency hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	HRG	3273	Homo sapiens (human)	Alliance of Genome Resources
DOID:11476	osteoporosis	ACE AGER AR BAX BMP2 CALCA CALCR CIITA COL1A1 COL1A2 CXCR4 CYP17A1 CYP19A1 DSPP ESR1 GH2 GHR GOLM1 IFNGR1 IGF1R IGF2 IGFBP3 IL1A IL1RN IRAK3 IRS1 IRS2 LEP LEPR LRP5 MAPK14 MMP9 MYC NRIP1 PCNA PLS3 PTGER4 SIRT1 SOD2 TGFB1 TNFRSF11A TNFRSF11B TNFRSF1B TNFSF11	11213 1277 1278 1432 1586 1588 1636 177 1834 2099 23411 2689 2690 3459 3480 3481 3486 3552 3557 3667 367 3952 3953 4041 4261 4318 4609 4982 5111 51280 5358 5734 581 650 6648 7040 7133 7852 796 799 8204 8600 8660 8792	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060412	chromosome 1q41-q42 deletion syndrome Aliases: 1q41-q42 microdeletion syndrome 1q41q42 microdeletion syndrome	TP53BP2	7159	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050797	peroxisomal acyl-CoA oxidase deficiency Aliases: Peroxisomal acyl-coenzyme A oxidase	ACOX1	51	Homo sapiens (human)	Alliance of Genome Resources
DOID:14179	X-linked agammaglobulinemia Aliases: BTK deficiency Bruton agammaglobulinemia tyrosine kinase deficiency Bruton disease Bruton's Sex-Linked Agammaglobulinemia Bruton's agammaglobulinaemia Bruton's type agammaglobulinemia Bruton-type agammaglobulinemia	BTK	695	Homo sapiens (human)	Alliance of Genome Resources
DOID:1184	nephrotic syndrome	A2M ACAT1 ACE ALB ALOX5 APOA1 APOB APOC2 APOC3 APOE CD2AP CFI CFL1 COQ2 COQ6 CPB2 CTSL CTSV DGAT1 ECE1 EDNRA EPO FAT1 GAPVD1 GP1BA GPAM GPX1 GPX3 IGFALS IL1RN IL4 IL5 ITSN2 KCNJ1 KIRREL1 KIRREL2 KIRREL3 LIPC NOS1 NPHS1 NPHS2 NR3C1 PLA2G7 PLCE1 PPARGC1A PTGS2 SCNN1A SCNN1B SERPINC1 SGPL1 SH3KBP1 SOAT2 SOD2 STOM TFPI TNFRSF11B VLDLR	1072 10891 1361 1514 1515 1636 1889 1909 2 2040 2056 213 2195 23607 240 26130 27235 2811 2876 2878 2908 30011 335 338 3426 344 345 348 3483 3557 3565 3567 3758 38 3990 462 4842 4868 4982 50618 51004 51196 55243 5743 57678 6337 6338 6648 7035 7436 7827 7941 84063 8435 84623 8694 8879	Homo sapiens (human)	Alliance of Genome Resources
DOID:3304	germinoma	PDPN	10630	Homo sapiens (human)	Alliance of Genome Resources
DOID:5614	eye disease	COL2A1 EYA3 EYA4 F2 MYRF RP1L1 TLR2 TLR3 TLR4 TNF	1280 2070 2140 2147 7097 7098 7099 7124 745 94137	Homo sapiens (human)	Alliance of Genome Resources
DOID:9965	toxoplasmosis Aliases: disseminated toxoplasmosis	BAX	581	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111589	COACH syndrome Aliases: Gentile syndrome JS-H Joubert syndrome with congenital hepatic fibrosis Joubert syndrome with hepatic defect cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:571	median neuropathy	EGFR ERBB2 ERBB3 ERBB4 MT1E MT1H MT2A NRG1	1956 2064 2065 2066 3084 4493 4496 4502	Homo sapiens (human)	Alliance of Genome Resources
DOID:630	genetic disease	COG7	91949	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112218	developmental and epileptic encephalopathy 83 Aliases: DEE83 early infantile epileptic encephalopathy 83	UGP2	7360	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050592	asphyxiating thoracic dystrophy Aliases: Jeune syndrome short-rib thoracic dysplasia with or without polydactyly thoracic pelvic phalangeal dystrophy	DYNC2H1 INTU NEK1	27152 4750 79659	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111212	autosomal dominant distal hereditary motor neuronopathy 9 Aliases: DHMN9 HMN9 distal hereditary motor neuronopathy type 9 distal hereditary motor neuropathy type IX	WARS1	7453	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060675	catecholaminergic polymorphic ventricular tachycardia 1 Aliases: CVPT1 arrhythmogenic right ventricular dysplasia 2	RYR2	6262	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080697	Opitz GBBB syndrome Aliases: Opitz G/BBB Syndrome Opitz GBBB syndrome type I	MID1	4281	Homo sapiens (human)	Alliance of Genome Resources

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