GlyCosmos Portal

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

Displaying entries **4576 - 4600** of **15957** in total

« First

‹ Prev

…

180

181

182

183

184

185

186

187

188

…

Next ›

Last »
Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:14283	primary hypertrophic osteoarthropathy Aliases: Pachydermoperiostosis of nail Pachydermoperiostosis syndrome	SLCO2A1	6578	Homo sapiens (human)	Alliance of Genome Resources
DOID:10003	sensorineural hearing loss Aliases: High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss	APOE ATP1A1 ATP1B1 CAT DIAPH1 DNAAF4 DNAH17 DNAH9 EDNRB EYA4 F2 F5 GATA3 HLA-B HLA-DRB1 IFNG IL2 ITGA2 MBL2 MYH14 MYH9 MYO15A MYO1A MYO6 MYO7A NGF PSMC3 PTGDS SCARB1 SLC12A2 SLC44A4 SLC7A14 SLITRK6 SOD2 STRC TECTA TMPRSS3 TNF WFS1 WHRN	161497 161582 1729 1770 1910 2070 2147 2153 25861 2625 3106 3123 3458 348 3558 3673 4153 4627 4640 4646 4647 476 4803 481 51168 5702 5730 57709 64699 6558 6648 7007 7124 7466 79784 80736 84189 847 8632 949	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111547	retinal arterial tortuosity Aliases: RATOR retinal arteriolar tortuosity retinal hemorrhage with vascular tortuosity tortuosity of retinal arteries	COL4A1	1282	Homo sapiens (human)	Alliance of Genome Resources
DOID:14323	Marfan syndrome Aliases: Marfan's syndrome	ACVR2A ACVR2B BMP2 BMP4 BMP6 BMP7 FBN1 MATN3 MMP12 MMP14 MMP2 TGFBR2	2200 4148 4313 4321 4323 650 652 654 655 7048 92 93	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110436	dilated cardiomyopathy 1L Aliases: CMD1L	SGCD SGCG SGCZ	137868 6444 6445	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080201	Peters plus syndrome Aliases: Krause-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters-plus syndrome	B3GLCT	145173	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:1799	islet cell tumor Aliases: Islet cell neoplasm endocrine pancreas cancer islet cell tumour malignant pancreatic Endocrine tumor malignant pancreatic Endocrine tumour malignant tumor of endocrine pancreas malignant tumour of endocrine pancreas pancreatic Endocrine neoplasm	ATRX DAXX PCSK1	1616 5122 546	Homo sapiens (human)	Alliance of Genome Resources
DOID:403	mouth disease	FGFR1	2260	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081320	multiple synostoses syndrome 4	GDF6	392255	Homo sapiens (human)	Alliance of Genome Resources
DOID:3963	thyroid gland carcinoma Aliases: head and neck cancer, Thyroid	ATP6V0C CD34 CD93 CDH5 EMCN FLT1 FLT4 KDR PTPRB ROBO4	1003 22918 2321 2324 3791 51705 527 54538 5787 947	Homo sapiens (human)	Alliance of Genome Resources
DOID:3312	bipolar disorder Aliases: Manic Bipolar Affective disorder Manic Depressive disorder Manic bipolar I disorder bipolar depression bipolar disorder manic phase manic depression manic disorder mixed bipolar disorder	ADIPOQ AKT1 ANK3 AVPR1B BMAL1 BRD1 CAMK2A CCL2 CDC42 CHRM2 CHRNB3 CLOCK COMT CS ERBB4 ETV1 GABRA3 GABRA5 GAD1 GAD2 GRIN2A GRIN2B GRK3 GRN GSK3B HLA-DRA HTR2C IMPA2 KAT6B L1CAM MBL2 NCAM1 NGF NRG1 NTRK2 PER3 PTGS1 PTGS2 RELN SLC18A1 SLC6A4 SNCA SRSF3 SSTR5 SYNE1 TNFRSF11B TTK VWF	1129 1142 1312 1431 157 2066 207 2115 23345 23522 23774 2556 2558 2571 2572 288 2896 2903 2904 2932 3084 3122 3358 3613 3897 406 4153 4684 4803 4915 4982 553 5649 5742 5743 6347 6428 6532 6570 6622 6755 7272 7450 815 8863 9370 9575 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110555	autosomal dominant nonsyndromic deafness 25 Aliases: DFNA25 autosomal dominant deafness 25	SLC17A8	246213	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090044	dystonia 9	SLC2A1	6513	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060419	chromosome 3q29 microdeletion syndrome Aliases: 3q subtelomere deletion syndrome 3q29 microdeletion syndrome 3q29 recurrent deletion 3qter deletion	BDH1 DLG1 HSD17B6 LTF MELTF SDR9C7 SLC51A TF	121214 1739 200931 4057 4241 622 7018 8630	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080227	autosomal dominant intellectual developmental disorder 55 Aliases: autosomal dominant intellectual developmental disorder-55 with seizures autosomal dominant mental retardation 55	NUS1	116150	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110668	congenital myasthenic syndrome 10 Aliases: CMS10 LGM congenital muscular dystrophy merosin-positive familial limb-girdle myasthenia	DOK7	285489	Homo sapiens (human)	Alliance of Genome Resources
DOID:1788	peritoneal mesothelioma Aliases: Advanced malignant Mesothelioma of Peritoneum advanced malignant peritoneal mesothelioma malignant mesothelioma of peritoneum	TRAF7	84231	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111113	nephronophthisis 2 Aliases: NPH2 NPHP2 infantile nephronophthisis 2	INVS	27130	Homo sapiens (human)	Alliance of Genome Resources
DOID:3770	pulmonary fibrosis Aliases: Fibrosis of lung	ACE AGER AGT ALOX5 ANXA1 AP3B1 B3GAT1 BAD BDKRB1 BDNF CAT CCL11 CCL2 CCN2 CCR4 CCR5 CD36 CDH1 CHI3L1 CHRM3 COL1A1 COL1A2 CSF2 CYSLTR1 DEFB1 DNM1L EDN1 EGFR EGR1 ELANE HABP2 HGF HSP90AB1 HSPD1 ICAM1 IGFBP3 IGFBP5 IL13 IL15 IL17A IL18R1 IL1A IL1RN IL4 JAG1 MBL2 MMP1 MMP9 MUC5AC NFE2L2 NGF NOTCH1 PDGFRA PLAU PTGS2 SERPINE1 SFTPA1 SFTPB SFTPC SMAD4 STAT1 TFPI TGFB1 TGFBR2 TIMP1 TLR9 TNF TWIST1 VWF	10059 10800 1116 1131 1233 1234 1277 1278 1437 1490 1636 1672 177 182 183 1906 1956 1958 1991 240 27087 301 3026 3082 3326 3329 3383 3486 3488 3552 3557 3565 3596 3600 3605 4089 4153 4312 4318 4586 4780 4803 4851 5054 5156 5328 54106 572 5743 623 627 6347 6356 6439 6440 653509 6772 7035 7040 7048 7076 7124 7291 7450 847 8546 8809 948 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:1875	impotence Aliases: Sexual impotence erectile dysfunction	ADAMTSL2 AGER AGT AKT1 BAD BAX CFL1 CNR1 EDN1 EDNRA HDAC3 HDAC4 IGFBP3 IL6 KDR MCAM NOS1 NOS2 NOS3 P2RY1 P2RY2 PDE5A PRKG1 SIRT1 TGFB1 THBD TNF XRCC1	1072 1268 177 183 1906 1909 207 23411 3486 3569 3791 4162 4842 4843 4846 5028 5029 5592 572 581 7040 7056 7124 7515 8654 8841 9719 9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050331	lacrimoauriculodentodigital syndrome 1 Aliases: LEVY-HOLLISTER SYNDROME Lacrimo-auriculo-dento-digital syndrome 1	FGF10 FGFR2	2255 2263	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111199	autosomal dominant distal hereditary motor neuronopathy 7 Aliases: DHMN7A DHMNVPy HMN VIIA HMN7A Harper-Young myopath dHMN7 distal hereditary motor neuronopathy type 7 distal hereditary motor neuropathy type VIIA distal spinal muscular atrophy with vocal cord paralysis distal spinal muscular atrophy with vocal cord paralysis type 7A	SLC5A7	60482	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110393	retinitis pigmentosa 66 Aliases: RP66	RBP3	5949	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110264	cataract 33 Aliases: CTRCT33	BFSP1	631	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081272	Sandestig-Stefanova syndrome	NUP188	23511	Homo sapiens (human)	Alliance of Genome Resources

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

International Collaboration

Acknowledgements