GlyCosmos Portal

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

Displaying entries **1201 - 1225** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	ANGPT1 F12 F2 F7 HS3ST6 KNG1 MYOF PLG SERPING1	2147 2155 2161 26509 284 3827 5340 64711 710	Homo sapiens (human)	Alliance of Genome Resources
DOID:14731	Weaver syndrome Aliases: WEAVER-LIKE SYNDROME Weaver-Williams syndrome	EZH2	2146	Homo sapiens (human)	Alliance of Genome Resources
DOID:14723	beta-ketothiolase deficiency Aliases: 2-methyl-3-hydroxybutyricacidemia 3-ketothiolase deficiency 3-oxothiolase deficiency Mitochondrial acetoacetyl-CoA Thiolase deficiency alpha-methylacetoaceticaciduria peroxisomal thiolase deficiency	ACAT1	38	Homo sapiens (human)	Alliance of Genome Resources
DOID:14720	Ehlers-Danlos syndrome classic type 1 Aliases: Ehlers-Danlos syndrome, type 1 type I Ehlers-Danlos syndrome	COL5A1 COL5A2 LUM	1289 1290 4060	Homo sapiens (human)	Alliance of Genome Resources
DOID:14717	centronuclear myopathy Aliases: myotubular myopathy	DNM2 MTM1 MTMR6 MTMR7 MTMR8	1785 4534 55613 9107 9108	Homo sapiens (human)	Alliance of Genome Resources
DOID:14711	FG syndrome Aliases: Keller syndrome Opitz-Kaveggia syndrome	CASK MED12	8573 9968	Homo sapiens (human)	Alliance of Genome Resources
DOID:14705	Pfeiffer syndrome Aliases: acrocephalosyndactylia type V	FGFR1 FGFR2	2260 2263	Homo sapiens (human)	Alliance of Genome Resources
DOID:14702	branchiootorenal syndrome Aliases: Branchio-Oto-renal syndrome Branchio-otorenal dysplasia Melnick-Fraser syndrome branchiootorenal dysplasia	EYA3 EYA4 SIX1 SIX4 SIX5	147912 2070 2140 51804 6495	Homo sapiens (human)	Alliance of Genome Resources
DOID:14701	propionic acidemia Aliases: GLYCINEMIA, KETOTIC KETOTIC HYPERGLYCINEMIA ketotic II glycinemia ketotic glycinemia propionic aciduria propionyl-CoA carboxylase deficiency	PCCA PCCB	5095 5096	Homo sapiens (human)	Alliance of Genome Resources
DOID:1470	major depressive disorder Aliases: clinical depression major depression recurrent major depression single major depressive episode unipolar depression	ADCY3 APOA1 APOA4 ARRB1 BDNF CHRM2 CHRNB3 CNTNAP2 CRTC1 CTNND2 EIF4B FOXP2 HSPA1A HSPA1L HTR1B HTR2A HTR2C IL10 IL3 IL5 IL6 MC1R MED12 NOS1 NR3C1 NRG1 NTRK2 PAWR PTEN SLC5A7 SLC6A4 SYN1	109 1129 1142 1501 1975 23373 26047 2908 3084 3303 3305 335 3351 3356 3358 337 3562 3567 3569 3586 408 4157 4842 4915 5074 5728 60482 627 6532 6853 93986 9968	Homo sapiens (human)	Alliance of Genome Resources
DOID:14695	galactokinase deficiency Aliases: Galactosemia II	GALK1	2584	Homo sapiens (human)	Alliance of Genome Resources
DOID:14694	Johanson-Blizzard syndrome Aliases: JBS	UBR1	197131	Homo sapiens (human)	Alliance of Genome Resources
DOID:14692	Smith-Lemli-Opitz syndrome Aliases: Rutledge lethal multiple congenital anomaly syndrome Smith-Opitz-Inborn syndrome	DHCR7	1717	Homo sapiens (human)	Alliance of Genome Resources
DOID:14686	Axenfeld-Rieger syndrome Aliases: Anomaly, Rieger's Axenfeld syndrome RGS - Rieger syndrome Rieger's anomaly	FOXC1 PITX2	2296 5308	Homo sapiens (human)	Alliance of Genome Resources
DOID:14681	Silver-Russell syndrome Aliases: Silver Russell Dwarfism	IGF2	3481	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:14671	multiple intestinal atresia Aliases: GIDID Multiple gastrointestinal atresias familial intestinal polyatresia syndrome gastrointestinal defects and immunodeficiency syndrome	TTC7A	57217	Homo sapiens (human)	Alliance of Genome Resources
DOID:14669	acrodysostosis	PRKAR1A	5573	Homo sapiens (human)	Alliance of Genome Resources
DOID:14654	prostatitis	BAMBI CCL11 CYP19A1 IL10 PTGS2 SMAD4	1588 25805 3586 4089 5743 6356	Homo sapiens (human)	Alliance of Genome Resources
DOID:1459	hypothyroidism Aliases: Thyroid deficiency Thyroid insufficiency	ADRB2 ANXA1 ANXA2 ANXA5 APOA5 APOC3 APOE AQP3 ARSA BAD BDNF CAT COL1A2 COL2A1 CS CYP19A1 DPYSL2 DUOX1 DUOX2 ENTPD1 F7 GPX1 GRK3 GSN HLA-DQB1 HLA-DRB1 HSD3B1 IFNG IGFBP2 IL10 IL4 L1CAM LIPC MAP1A MAP1B MBP MSTN MYH7 NCAM1 NCOA1 NCOR1 ND3 NEFH NEFL NEFM NGF NOS2 NOS3 NR1D1 PAM PCNA PCSK1 PHKA1 PITX2 PLOD1 PLOD2 PLOD3 PNPLA3 RELN SERPINA7 SHH SLC26A5 SLC2A1 SLC34A1 SLC9A1 SOD1 SOD2 SRD5A1 TG THBD THRA TSHB UCP2 UCP3 WNT3A	116519 1278 1280 1431 154 157 1588 1808 2155 2660 2876 2934 301 302 308 3119 3123 3283 345 3458 348 3485 3565 3586 360 375611 3897 3990 410 4130 4131 4155 4537 4625 4684 4741 4744 4747 4803 4843 4846 50506 5066 5111 5122 5255 5308 5351 5352 53905 5649 572 627 6469 6513 6548 6569 6647 6648 6715 6906 7038 7056 7067 7252 7351 7352 80339 847 8648 89780 8985 953 9572 9611	Homo sapiens (human)	Alliance of Genome Resources
DOID:14566	disease of cellular proliferation Aliases: cell process disease neoplasm	ATM FZR1 JAK1 JAK3 PLAUR SNRPB2 SPP1 TFPI TP53 TYK2	3716 3718 472 51343 5329 6629 6696 7035 7157 7297	Homo sapiens (human)	Alliance of Genome Resources
DOID:14557	primary pulmonary hypertension Aliases: Idiopathic pulmonary arterial hypertension	ADORA2A ATP13A3 BMPR2 FGFR2 KCNK3 PPARG PTGIS RYR1 TNFSF4 TRIM63	135 2263 3777 5468 5740 6261 659 7292 79572 84676	Homo sapiens (human)	Alliance of Genome Resources
DOID:14550	root resorption	TNF TNFRSF1A	7124 7132	Homo sapiens (human)	Alliance of Genome Resources
DOID:14525	Reye syndrome Aliases: Reye's syndrome	ALB	213	Homo sapiens (human)	Alliance of Genome Resources
DOID:14504	Niemann-Pick disease Aliases: Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis	NPC1 NPC1L1 NPC2 SMPD1	10577 29881 4864 6609	Homo sapiens (human)	Alliance of Genome Resources

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