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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

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

Displaying entries **5701 - 5725** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:13608	biliary atresia Aliases: Atresia of bile duct Congenital biliary atresia biliary atresia, congenital	ADD3 ADIPOQ CD14 DLK1 GGT1 GLI2 ICAM1 PTEN SHH SPINT1 SPINT2 SPP1 TGFB1	10653 120 2678 2736 3383 5728 6469 6692 6696 7040 8788 929 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081423	familial focal epilepsy with variable foci 3	DEPDC5 NPRL3	8131 9681	Homo sapiens (human)	Alliance of Genome Resources
DOID:438	autoimmune disease of the nervous system	ALDOC ANXA5	230 308	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060292	X-linked chondrodysplasia punctata 1 Aliases: chondrodystrophia calcificans congenita	ARSL EBP NSDHL	10682 415 50814	Homo sapiens (human)	Alliance of Genome Resources
DOID:3159	photosensitivity disease Aliases: Photodermatitis	BRD2 ELN	2006 6046	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080437	developmental and epileptic encephalopathy 31A Aliases: DEE31 DEE31A developmental and epileptic encephalopathy 31 early infantile epileptic encephalopathy 31	DNM1	1759	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111797	autosomal recessive congenital nystagmus Aliases: autosomal recessive congenital motor nystagmus	ROBO1	6091	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050820	atrioventricular block Aliases: AV block	LMNA	4000	Homo sapiens (human)	Alliance of Genome Resources
DOID:1395	schistosomiasis	HLA-DRB1	3123	Homo sapiens (human)	Alliance of Genome Resources
DOID:3179	inverted papilloma Aliases: Inverted papilloma, squamous cell	HGF KDR VEGFA	3082 3791 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110736	neurodegeneration with brain iron accumulation 2b Aliases: NBIA2b Neuroaxonal Dystrophy, Atypical Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related	PLA2G6	8398	Homo sapiens (human)	Alliance of Genome Resources
DOID:3529	congenital myopathy 1A Aliases: central core disease central core myopathy	RYR1 RYR2 RYR3	6261 6262 6263	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060856	right atrial isomerism Aliases: Ivemark syndrome asplenia with cardiovascular anomalies	ACVR2B CFC1 CFC1B	55997 653275 93	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111548	ring dermoid of cornea Aliases: RDC ring dermoid syndrome	PITX2	5308	Homo sapiens (human)	Alliance of Genome Resources
DOID:2754	glycogen storage disease VI Aliases: Glycogen storage disease 6 Hers' disease glycogen storage disease type VI hepatic glycogen phosphorylase deficiency hepatophosphorylase deficiency glycogenosis	PYGL	5836	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080079	nonsyndromic congenital nail disorder 1 Aliases: nonsyndromic congenital nail disorder 10 twenty-nail dystrophy	FZD6	8323	Homo sapiens (human)	Alliance of Genome Resources
DOID:11446	sciatic neuropathy	ABCC8 ABCC9 AGT AKAP12 AMIGO3 APOA1 APOE BDKRB1 BDKRB2 BDNF C3 CACNA1D CACNA1H CACNA1I CAPN1 CASP7 CAT CCL2 CCL5 CDKN1B CERS2 CNR2 CREB1 CYP11A1 CYP17A1 DBN1 FAS FGFR1 FTO FUBP1 GC GDNF GFRA1 GFRA3 GPX3 GRIN1 GRIN2B GSK3B HGF HMGB1 HRH3 HSD3B1 ICAM1 IL10 IL1RN IL6 IL6R JAK1 JAM3 KARS1 KCNC4 KCNJ11 LAMP2 LRP1 MAG MAP2 MC4R MMP9 MPZ MTOR NEFH NEFL NEFM NF1 NGFR NLGN2 NLGN3 NRG1 OPRL1 OPRM1 PCNA PCSK5 PDGFRA PDGFRB PLAT PLAU PMP22 PPARGC1A PTAFR QARS1 RANBP1 RANGAP1 REG3G RGMA SCN10A SERPINE1 SERPINF1 SLC17A8 SNW1 SOD1 TIMP3 TLR4 TNF TNFRSF1A TNFRSF1B	10060 1027 10891 11255 1269 130120 1385 1583 1586 1627 183 2260 22938 246213 2475 2638 2668 2674 2676 2878 2902 2904 2932 29956 3082 3084 3146 3283 335 3383 348 355 3557 3569 3570 3586 3716 3735 3749 3767 386724 3920 4035 4099 4133 4160 4318 4359 4741 4744 4747 4763 4804 4987 4988 5054 5111 5125 5156 5159 5176 5327 5328 5376 54413 56963 5724 57555 5859 5902 5905 623 624 627 6336 6347 6352 6647 6833 7078 7099 7124 7132 7133 718 776 79068 823 83700 840 847 8880 8911 8912 9590	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060276	pontocerebellar hypoplasia type 7	TOE1	114034	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111782	otopalatodigital syndrome spectrum disorder Aliases: OPD spectrum disorder OPSD fronto-otopalatodigital osteodysplasia	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:4674	androgen insensitivity syndrome Aliases: Androgen resistance syndrome Androgen-Insensitivity Syndrome Feminisation - testicular Goldberg - Maxwell syndrome Goldberg-Maxwell syndrome testicular Feminization syndrome testicular feminization	AR FKBP4 KAT7	11143 2288 367	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060693	Brunner Syndrome Aliases: monoamine oxidase A deficiency	MAOA	4128	Homo sapiens (human)	Alliance of Genome Resources
DOID:14159	obstructive hydrocephalus	MYO9A	4649	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110671	congenital myasthenic syndrome 6 Aliases: CMS Ia2 CMS1A2 CMS6 CMSEA FIM FIMG2 congenital myasthenic syndrome 6, presynaptic congenital myasthenic syndrome type Ia2 congenital presynaptic myasthenic syndrome associated with episodic apnea familial infantile myasthenia familial infantile myasthenia gravis 2	CHAT	1103	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081265	intellectual developmental disorder with abnormal behavior, microcephaly, and short stature Aliases: IDDBAS	PUS7	54517	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111136	congenital generalized lipodystrophy type 2 Aliases: Berardinelli-Seip congenital lipodystrophy type 2 Berardinelli-Seip syndrome Brunzell syndrome BSCL2-related CGL2 congenital lipoatrophic diabetes total lipodystrophy and acromegaloid gigantism	BSCL2 PPARG	26580 5468	Homo sapiens (human)	Alliance of Genome Resources

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