GlyCosmos Portal

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

Displaying entries **2601 - 2625** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:655	inherited metabolic disorder Aliases: Inborn Errors of Metabolism Metabolic hereditary disorder inborn metabolism disorder	BCHE GPHN HSD11B2 LIG1 MMAB NDUFS1 SLC22A5 SLC25A19	10243 326625 3291 3978 4719 590 60386 6584	Homo sapiens (human)	Alliance of Genome Resources
DOID:9269	maple syrup urine disease Aliases: Ketoacidaemia branched chain ketoaciduria	BCKDHA BCKDHB DBT DLD	1629 1738 593 594	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060038	specific developmental disorder	BCL11A BCL11B FOXP1 FOXP2 FOXP4	116113 27086 53335 64919 93986	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111979	immunodeficiency 49 Aliases: IMD49 SCID, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities severe combined immunodeficiency, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities	BCL11B	64919	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060411	chromosome 1q21.1 deletion syndrome Aliases: 1q21.1 microdeletion syndrome	BCL9 BCL9L	283149 607	Homo sapiens (human)	Alliance of Genome Resources
DOID:216	dental caries Aliases: Dental caries extending into pulp Dental caries of smooth surface Dental caries pit and fissure	BCOR HLA-DQB1	3119 54880	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111809	syndromic microphthalmia 2 Aliases: ANOP2 MAA2 MCOPS2 OFCD syndrome cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome microphthalmia cataracts radiculomegaly and septal heart defects oculofaciocardiodental syndrome syndromic microphthalmia type 2	BCOR	54880	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111799	syndromic microphthalmia 1 Aliases: Lenz dysplasia Lenz microphthalmia Lenz type microphthalmia MCOPS1	BCOR	54880	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111841	Shukla-Vernon syndrome Aliases: SHUVER	BCORL1	63035	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:11713	diabetic angiopathy Aliases: Diabetic vascular disorder diabetic peripheral angiopathy	BDKRB1 CCL2 CD28 CD40LG EPO F3 FAS FASLG FN1 GP1BA GPX1 HLA-DRB1 ICAM1 IL1RN ITGAM MMP14 NOS2 NOS3 PLAT PON1 RBP4 SERPINE1 SOD1 SOD2 SPARC TNF VEGFA	2056 2152 2335 2811 2876 3123 3383 355 3557 356 3684 4323 4843 4846 5054 5327 5444 5950 623 6347 6647 6648 6678 7124 7422 940 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070355	overactive bladder syndrome Aliases: OAB overactive bladder urge syndrome urgency-frequency syndrome	BDKRB1 CD40LG NGF NRG1 TRPA1	3084 4803 623 8989 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:4989	pancreatitis	BDKRB2 CCL2 CCL5 CNR2 CTSL CTSV EGF EGR1 FGA FGB FGG HSP90AB1 HTR2A ICAM1 IL10 IL13 IL15 KLK1 LEPR MDM2 MET NOD2 PDGFA PDGFB PPARG PRSS1 SELL SERPINA1 SERPING1 SMO TACR1 TLR2 TLR3 TLR4 VCAM1	1269 1514 1515 1950 1958 2243 2244 2266 3326 3356 3383 3586 3596 3600 3816 3953 4193 4233 5154 5155 5265 5468 5644 624 6347 6352 6402 64127 6608 6869 7097 7098 7099 710 7412	Homo sapiens (human)	Alliance of Genome Resources
DOID:10126	keratoconus Aliases: conical cornea	BDNF BMP4 FGA HGF IL1A IL1RN KERA MMP2 PON1	11081 2243 3082 3552 3557 4313 5444 627 652	Homo sapiens (human)	Alliance of Genome Resources
DOID:9975	cocaine dependence	BDNF CAMK4 CCSER1 CHRNA3 CHRNB3 COL21A1 COMT CREB1 DRD2 EGR1 FOS FOSB GABBR1 GRIA1 HTR2A HTR2C HTR3A MANEA NGF OPRD1 OPRK1 OPRM1 PER2 PRL SIRT1 SIRT2 TENM3	1136 1142 1312 1385 1813 1958 22933 23411 2353 2354 2550 2890 3356 3358 3359 401145 4803 4985 4986 4988 55714 5617 627 79694 814 81578 8864	Homo sapiens (human)	Alliance of Genome Resources
DOID:987	alopecia	BDNF CDSN DSG4 FAR2 HLA-B KRT71 PRSS8	1041 112802 147409 3106 55711 5652 627	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:13399	color blindness Aliases: BLINDNESS COLOR Colour blindness Colour vision deficiency	BDNF CNGA3 TYR	1261 627 7299	Homo sapiens (human)	Alliance of Genome Resources
DOID:10933	obsessive-compulsive disorder Aliases: Anancastic neurosis obsessive compulsive disorder	BDNF COMT CREB1 GDNF HRAS HTR2A SLC6A4	1312 1385 2668 3265 3356 627 6532	Homo sapiens (human)	Alliance of Genome Resources
DOID:9427	hypertensive encephalopathy	BDNF PPARA	5465 627	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060731	congenital central hypoventilation syndrome Aliases: CCHS Ondine curse Ondine syndrome central congenital hypoventilation syndrome congenital central alveolar hypoventilation syndrome	BDNF	627	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111637	autosomal recessive nonsyndromic deafness 112 Aliases: DFNB112 autosomal recessive deafness 112	BDP1	55814	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110264	cataract 33 Aliases: CTRCT33	BFSP1	631	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112150	X-linked spondyloepimetaphyseal dysplasia Aliases: SEMD X-linked SEMDX	BGN	633	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111861	Meester-Loeys syndrome Aliases: MRLS	BGN	633	Homo sapiens (human)	Alliance of Genome Resources

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