GlyCosmos Portal

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

Displaying entries **11501 - 11525** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:2580	rhizomelic chondrodysplasia punctata Aliases: Chondrodysplasia Punctata, Rhizomelic Form	AGPS	8540	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081337	congenital myopathy	HACD1 LDB3 MYBPC1	11155 4604 9200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081237	acromesomelic dysplasia-3 Aliases: Demirhan-type acromesomelic dysplasia	BMPR1B	658	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060248	Simpson-Golabi-Behmel syndrome type 1 Aliases: DGSX Golabi-Rosen syndrome Golabi-Rosen syndrome SGB syndrome Sara Angers syndrome Simpson dysmorphia syndrome X-linked dysplasia gigantism syndrome bulldog syndrome	GPC3	2719	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111479	combined oxidative phosphorylation deficiency 8 Aliases: COXPD8	AARS2	57505	Homo sapiens (human)	Alliance of Genome Resources
DOID:12559	idiopathic juvenile osteoporosis Aliases: Idiopathic osteoporosis juvenile osteoporosis	LRP5	4041	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110471	autosomal recessive nonsyndromic deafness 16 Aliases: DFNB16 autosomal recessive deafness 16	STRC	161497	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110431	dilated cardiomyopathy 1I Aliases: CMD1I	DES	1674	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080977	aortic valve disease 3	ROBO4	54538	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050742	nicotine dependence Aliases: tobacco use disorder	ADRA2A CCK CHRFAM7A CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7 CHRNB3 CHRNB4 COMT CREB1 CYP2B6 DRD2 DRD3 FIGNL1 FOS GABBR1 GABBR2 GRIN2B HTR1A HTR1B HTR2A HTR2C HTR3A LCP1 NCAM1 NPY1R OPRM1 PLCB4 POMC RPTOR SLC6A3 TRPC3 TRPC4 TRPC5 TRPC6 TRPC7	1136 1137 1138 1139 1142 1143 1312 1385 150 1555 1813 1814 2353 2550 2904 3350 3351 3356 3358 3359 3936 4684 4886 4988 5332 5443 57113 57521 63979 6531 7222 7223 7224 7225 885 8973 89832 9568	Homo sapiens (human)	Alliance of Genome Resources
DOID:9778	irritable bowel syndrome Aliases: IBD Irritable colon	BDNF CLDN1 CRHR1 CRHR2 EFNB2 EPHB2 FOS GDNF HTR3A HTR7 LINC02210-CRHR1 MLXIPL NOS3 PDIA3 RNF43	104909134 1394 1395 1948 2048 2353 2668 2923 3359 3363 4846 51085 54894 627 9076	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110443	dilated cardiomyopathy 1B	FKTN	2218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050830	peripheral artery disease	ADIPOQ B2M CCN1 NPY1R NPY2R NPY5R P2RY12 SERPINE1	3491 4886 4887 4889 5054 567 64805 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111432	essential tremor 5 Aliases: ETM5 hereditary essential tremor 5	TENM4	26011	Homo sapiens (human)	Alliance of Genome Resources
DOID:1107	esophageal carcinoma Aliases: cancer of esophagus cancer of oesophagus carcinoma of esophagus carcinoma of oesophagus	GRB7 SLC7A5 STAT3	2886 6774 8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080561	congenital disorder of glycosylation Ii Aliases: congenital disorder of glycosylation 1i	ALG2	85365	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:1270	hereditary hemorrhagic telangiectasia Aliases: Osler hemorrhagic telangiectasia syndrome Osler-Weber-Rendu disease Rendu-Osler-Weber disease	ACVRL1 BMP10 ENG GDF2 SMAD4 TGFB1 TNF	2022 2658 27302 4089 7040 7124 94	Homo sapiens (human)	Alliance of Genome Resources
DOID:9620	vesicoureteral reflux Aliases: vesico-ureteral reflux	AGTR1 AGTR2 CSF1 HAVCR1 IFNG IGF1R ROBO2 TNXB UPK3A	1435 185 186 26762 3458 3480 6092 7148 7380	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112143	retinitis pigmentosa 86 Aliases: RP86	KIAA1549	57670	Homo sapiens (human)	Alliance of Genome Resources
DOID:3498	pancreatic ductal adenocarcinoma Aliases: ductal adenocarcinoma of the pancreas	AKR7A2 CALR CD59 CFHR3 E2F1 EIF5A EIF5AL1 FOXM1 FUBP1 GOT1 HSPA8 JAK1 PIK3CG PLD1 PTPRB PTPRM RAC1 RALA TGFB1 TGFB2 TGFB3 TGFBR1 VEGFD VNN1	10878 143244 1869 1984 2277 2305 2805 3312 3716 5294 5337 5787 5797 5879 5898 7040 7042 7043 7046 811 8574 8876 8880 966	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112329	pontocerebellar hypoplasia type 2F Aliases: PCH2F	TSEN15	116461	Homo sapiens (human)	Alliance of Genome Resources
DOID:8634	prostate carcinoma in situ Aliases: PIN III carcinoma in situ of prostate grade III PIN	AMACR APEX1 AREG ATM AURKB BTG2 CDKN1B CREB3L4 CSF1R CYP19A1 ESR1 FGF6 FGF8 FLT1 FZD4 HDAC1 LEF1 LRP1 MAP2K4 MAP2K6 PHB1 PRSS8 PTGS2 RELA SMAD4 ST14	1027 1436 148327 1588 2099 2251 2253 2321 23600 3065 328 374 4035 4089 472 51176 5245 5608 5652 5743 5970 6416 6768 7832 8322 9212	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080097	myofibrillar myopathy 6	BAG3	9531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111563	Sturge-Weber syndrome Aliases: SWS Sturge-Weber-Dimitri syndrome Sturge-Weber-Krabbe angiomatosis Sturge-Weber-Krabbe syndrome encephalofacial angiomatosis encephalotrigeminal angiomatosis fourth phacomatosis leptomeningeal angiomatosis meningeal capillary angiomatosis	FN1 MMP2 MMP9	2335 4313 4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110679	congenital myasthenic syndrome 4C Aliases: CMS Id CMS1D CMS4C FIM1 congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency congenital myasthenic syndrome type Id familial infantile myasthenia 1	CHRNE	1145	Homo sapiens (human)	Alliance of Genome Resources

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