GlyCosmos Portal

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

Displaying entries **401 - 425** of **4649** in total

« First

‹ Prev

…

13

14

15

16

17

18

19

20

21

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110447	dilated cardiomyopathy 1DD Aliases: CMD1DD	RBM20	282996	Homo sapiens (human)	Alliance of Genome Resources
DOID:4751	striatonigral degeneration	NUP62	23636	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110390	retinitis pigmentosa 1 Aliases: RP1	RP1	6101	Homo sapiens (human)	Alliance of Genome Resources
DOID:13884	sick sinus syndrome Aliases: sinus node infection	AGT ANK2 HCN1 HCN4 SCN5A	10021 183 287 348980 6331	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111155	autosomal recessive spinocerebellar ataxia 21 Aliases: SCAR21 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome autosomal recessive spinocerebellar ataxia 21 with hepatopathy	SCYL1	57410	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111732	Eiken syndrome Aliases: Eiken skeletal dysplasia bone modeling defect of hands and feet	PTH1R	5745	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110021	age related macular degeneration 9 Aliases: ARMD9	C3	718	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112236	lissencephaly 6 Aliases: LIS6	KATNB1	10300	Homo sapiens (human)	Alliance of Genome Resources
DOID:3572	intracranial sinus thrombosis	GPX3	2878	Homo sapiens (human)	Alliance of Genome Resources
DOID:3304	germinoma	PDPN	10630	Homo sapiens (human)	Alliance of Genome Resources
DOID:809	cocaine abuse	CCL5 CD40LG CHRNA5 CHRNA6 CHRNB4 CREB1 FOSB GRIA1 HTR1A HTR2A HTR2C NPY1R NR3C1 PRL SLC18A1 SLC18A2 SLC6A4	1138 1143 1385 2354 2890 2908 3350 3356 3358 4886 5617 6352 6532 6570 6571 8973 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050175	tick-borne encephalitis Aliases: Central European encephalitis Far Eastern TBE Russian spring-summer encephalitis Siberian tick-borne encephalitis Taiga encephalitis Western European tick-borne encephalitis west-Siberian encephalitis	CD40 CD40LG	958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112347	hereditary spastic paraplegia 84 Aliases: SPG84 spastic paraplegia 84 autosomal recessive	PI4KA	5297	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081270	Smith-McCort dysplasia 1	DYM	54808	Homo sapiens (human)	Alliance of Genome Resources
DOID:8923	skin melanoma Aliases: cutaneous melanoma malignant ear melanoma malignant lip melanoma malignant lower limb melanoma malignant melanoma of ear and/or external auricular canal malignant melanoma of skin of lower limb malignant melanoma of skin of trunk except scrotum malignant melanoma of skin of upper limb malignant neck melanoma malignant scalp melanoma malignant trunk melanoma malignant upper limb melanoma	AFF4 AGT BRCA2 CCL2 CD40 CHAF1B CTCF DDR1 FANCD2 GRM1 HIF1A ICAM1 MMP1 MMP2 MMP9 OCA2 PDCD4 STAT3 TYR	10664 183 2177 27125 27250 2911 3091 3383 4312 4313 4318 4948 6347 675 6774 7299 780 8208 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:11199	hypoparathyroidism	GATA3 TBCE	2625 6905	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070296	primary autosomal recessive microcephaly Aliases: MCPH	ASPM DYNC1I2 KIF14 KNL1 LMNB1 LMNB2 NCAPD2 NCAPD3 PDCD6IP TRAPPC14 WDR62	10015 1781 23310 259266 284403 4001 55262 57082 84823 9918 9928	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081217	autosomal recessive intellectual developmental disorder 56	ZC3H14	79882	Homo sapiens (human)	Alliance of Genome Resources
DOID:12849	autistic disorder Aliases: Kanner's syndrome autism autistic disorder of childhood onset childhood autism infantile autism	ANK2 C4B CCL2 CNTNAP2 DAB1 EIF4E EN2 FOXP2 GABRA2 GABRA4 GABRA5 GABRB1 GABRB2 GABRR2 GLO1 GRM8 GRN HLA-DRB1 HRAS HSPD1 IL6 KCNQ3 KDM4C KMT2E LAMB1 MECP2 MET MTR NF1 NLGN1 NLGN3 NLGN4X NTRK2 PECAM1 PIK3CG PTCHD1 RELN RPP25 SETDB1 SHANK2 SLC25A12 SLC6A4 SLC9A9 TNF VLDLR	139411 1600 1977 2020 22871 22941 23081 2555 2557 2558 2560 2561 2570 26047 2739 285195 287 2896 2918 3123 3265 3329 3569 3786 3912 4204 4233 4548 4763 4915 5175 5294 54413 54913 55904 5649 57502 6347 6532 7124 721 7436 8604 93986 9869	Homo sapiens (human)	Alliance of Genome Resources
DOID:10211	cholelithiasis	APOE CCKAR CFTR CYP17A1 UGT1A1	1080 1586 348 54658 886	Homo sapiens (human)	Alliance of Genome Resources
DOID:8866	actinic keratosis Aliases: SK - Solar keratosis Senile hyperkeratosis Solar keratosis actinic (Solar) Keratosis	KNSTRN OCA2 TGFB1	4948 7040 90417	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110527	autosomal recessive nonsyndromic deafness 8 Aliases: DFNB10 DFNB8 NRSD8 autosomal recessive deafness 10 autosomal recessive deafness 8 childhood-onset neurosensory autosomal recessive deafness 8 neurosensory nonsyndromic recessive deafness 8	TMPRSS3	64699	Homo sapiens (human)	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:8719	in situ carcinoma	AKT1 ALOX5 ALPL ANGPT1 CTNNB1 ESR1 IGF2R IGFBP6 MKI67 PDGFRA PDPN POU5F1 PTEN PTGES PTGS2 RB1 RUNX3 SFN SFRP1 XRCC1	10630 1499 207 2099 240 249 2810 284 3482 3489 4288 5156 5460 5728 5743 5925 6422 7515 864 9536	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111415	trichohepatoenteric syndrome 1 Aliases: THES1	SKIC3	9652	Homo sapiens (human)	Alliance of Genome Resources

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

International Collaboration

Acknowledgements