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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 **3501 - 3525** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0081237	acromesomelic dysplasia-3 Aliases: Demirhan-type acromesomelic dysplasia	BMPR1B	658	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081266	pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures Aliases: PAMDDFS	TUBGCP2	10844	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:12399	pathological gambling Aliases: Compulsive gambling	COMT DRD4 HTR2A	1312 1815 3356	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060903	thrombosis	ACE2 APOH C5AR1 CD40LG F11 F2 F3 F5 FCGR2A FGB HRG ITGA2 ITGAM MMP1 MMP3 MMP9 P2RY12 PIK3CB PLAU PROC SERPINC1 SERPINE1 TBXAS1 VTN	2147 2152 2153 2160 2212 2244 3273 350 3673 3684 4312 4314 4318 462 5054 5291 5328 5624 59272 64805 6916 728 7448 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:1930	Laurence-Moon syndrome Aliases: LNMS	PNPLA6	10908	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110474	autosomal recessive nonsyndromic deafness 18B Aliases: DFNB18B autosomal recessive deafness 18B	OTOG	340990	Homo sapiens (human)	Alliance of Genome Resources
DOID:3321	GM2 gangliosidosis Aliases: gangliosidosis GM2	GM2A	2760	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060037	developmental disorder of mental health	ASH1L DLG1 GABRB1 GABRB2 GABRB3 GABRD GABRP GABRQ GABRR1 GABRR2 GABRR3 GIGYF2 GRIN2A GRIN2B GRIN2C GRIN2D NAA15 NAA16 NCKAP1 NCOR1 NCOR2 PARD3 PLXNB1 PLXNB2 PLXNB3 PLXND1 RASAL2 RASAL3 RING1 RNF2 RUNX3 SIN3A SIN3B SRCAP SYNGAP1 TACR1 TCF12 TCF3 TCF4	10787 10847 1739 200959 23129 23309 23654 2560 2561 2562 2563 2568 2569 2570 25942 26058 2903 2904 2905 2906 5364 5365 55870 55879 56288 6015 6045 64926 6869 6925 6929 6938 79612 80155 864 8831 9462 9611 9612	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060801	MEHMO syndrome Aliases: MRXS20 MRXS25 X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity syndromic X-linked mental retardation 20 syndromic X-linked mental retardation 25	EIF2S3	1968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110722	neuronal ceroid lipofuscinosis 7 Aliases: CLN7	MFSD8	256471	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070271	Lynch syndrome 1 Aliases: FCC1 HNPCC1 familial nonpolyposis colon cancer type 1 hereditary nonpolyposis colorectal cancer type 1	MSH2	4436	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080027	spondyloepimetaphyseal dysplasia	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:14330	Parkinson's disease Aliases: Parkinson disease paralysis agitans	A2M AAK1 ABL1 ACHE ACO2 ADCY5 ADH7 AFDN AGTR1 AKT1 AKT2 AKT3 ANXA5 APOA1 APOE ATG9A ATG9B ATM ATP13A2 ATP13A3 ATP13A5 B2M BDNF BMP2K CALR3 CALR CASP9 CAST CCK CCN2 CHRNB3 CREB1 CYP1A1 DBH DBN1 DLG1 DNAJC13 DNM1L DRD1 DRD2 DRD3 DRD5 EGF EGFR EIF2AK2 EIF4G1 EIF4G2 EIF4G3 EPHX2 EPO ERBB2 FAS FASLG FBXO7 FDXR FOXO1 FOXO3 FOXO4 GAK GBA1 GDF5 GDNF GIGYF2 GJC2 GLRX GPI GPR37 GRK3 GRN GSK3B GSTO1 GSTO2 HBB HCN3 HDAC6 HIPK1 HIPK2 HIPK3 HLA-DRA HLA-DRB1 HMGCR HSF1 HSPA4 HSPA8 HSPA9 HSPD1 HTR1A HTT IGF1R IGF2 INSR INSRR KLK6 LEP LRRK1 LRRK2 MAP2K3 MAP2K6 MAPK14 MAPK9 MAPT MINAR2 MXI1 ND3 NDUFB8 NEFL NGFR NOS1 NOX1 NPBWR1 NPBWR2 NR4A1 NTSR1 NUS1 OGG1 OPRD1 OPRK1 OPRL1 OPRM1 OPTN PAK4 PAK5 PARK7 PARP1 PGK1 PGK2 PHACTR2 PINK1 PISD PLA2G6 PPARGC1A PPARGC1B PPP1R9B PPRC1 PRKAA1 PRKAA2 PRLHR PTCH1 PTCH2 PTGIS PTPRN2 PTPRN RTCB SDHA SEC22B SERPINF1 SIRT1 SLC11A2 SLC17A6 SLC17A8 SLC18A2 SLC40A1 SNCA SNCB SNCG SOD1 SOD2 SPCS2 SRRM2 SSTR1 SSTR2 SSTR3 SSTR4 SSTR5 SYNJ1 SYNJ2 TARDBP TFAM TOR1A TOR1B TOR2A TOR3A TPPP3 TPPP TSPAN3 TSPAN7 VDAC1 VPS13A VPS13C YIF1B	10000 100127206 10013 10059 10099 10114 10133 10298 10891 11076 111 11315 1142 116150 119391 120892 125972 131 133522 1385 142 1432 1490 1543 157 1621 1627 1739 1812 1813 1814 1816 185 1861 1950 1956 1981 1982 2 204851 2053 2056 2064 207 208 2232 22848 2308 23082 2309 23230 23317 23400 23411 23435 23524 23761 246213 25 25793 2580 26058 2629 2668 27035 27348 27433 2745 2821 2831 2832 2834 285973 2861 2896 28996 2932 30061 3043 3064 308 3122 3123 3156 3164 3297 3308 3312 3313 3329 335 3350 344905 348 3480 3481 355 356 3643 3645 3952 4137 43 4301 4303 4537 4601 4714 472 4747 4804 4842 4891 4923 4968 4985 4986 4987 4988 50 51493 51673 5176 5230 5232 54832 55589 5562 5563 5601 5606 5608 5610 5653 567 57084 57144 57165 5727 5740 57657 5798 5799 627 6389 64222 65018 6571 6620 6622 6623 6647 6648 6751 6752 6753 6754 6755 7019 7102 7416 79065 79572 79705 811 8200 831 8398 842 84687 8643 8672 885 8867 8871 90522 9446 9554 9749 9789	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070374	leukoencephalopathy with vanishing white matter 1	EIF2B1	1967	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110858	polycystic kidney disease 1 Aliases: Apkd1 Pkd1 Polycystic Kidney Disease, Adult, Type I	MYC PKD1	4609 5310	Homo sapiens (human)	Alliance of Genome Resources
DOID:263	kidney cancer Aliases: malignant neoplasm of kidney except pelvis malignant tumour of kidney renal cancer	FGF9 HRAS KRAS LATS1 LATS2 LLGL1 LLGL2 NRAS POLE PPARGC1A SCRIB	10891 2254 23513 26524 3265 3845 3993 3996 4893 5426 9113	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050855	renal fibrosis	ACE ADAM17 AGER CLU CYBB CYP2J2 ECE1 EDNRA ENG FCAR GFER GPR21 GPR52 IFNG KRAS LEPR MMP1 MMP9 PPARGC1A SERPINE1 STAT6 TLR2 TLR4	10891 1191 1536 1573 1636 177 1889 1909 2022 2204 2671 2844 3458 3845 3953 4312 4318 5054 6778 6868 7097 7099 9293	Homo sapiens (human)	Alliance of Genome Resources
DOID:2855	hyperthyroxinemia	ALB	213	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080845	omodysplasia 2	FZD2	2535	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050440	familial partial lipodystrophy Aliases: Dunnigan Syndrome Koberling-Dunnigan Syndrome	ADRA2A LMNA PPARG	150 4000 5468	Homo sapiens (human)	Alliance of Genome Resources
DOID:5041	esophageal cancer Aliases: Ca lower third oesophagus Ca middle third oesophagus esophagus cancer malignant neoplasm of distal third of esophagus malignant neoplasm of lower third of oesophagus malignant neoplasm of middle third of oesophagus malignant neoplasm of proximal third of esophagus malignant neoplasm of upper third esophagus malignant tumor of Distal Third of esophagus malignant tumor of Proximal Third of esophagus malignant tumor of abdominal esophagus malignant tumor of the middle Third of the esophagus	AKT1 CTNNA1 CYP1A1 CYP24A1 GPX3 IL10 IL1R2 IL5 LZTS1 MXI1 MYD88 PIK3CA PTEN TNFAIP3 XRCC1	11178 1495 1543 1591 207 2878 3567 3586 4601 4615 5290 5728 7128 7515 7850	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080041	hypochondroplasia	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:4159	skin cancer Aliases: CA - skin cancer malignant neoplasm of skin melanoma and Non-melanoma skin cancer	ANXA7 CRKL MRE11 SNAI1 SRSF6	1399 310 4361 6431 6615	Homo sapiens (human)	Alliance of Genome Resources
DOID:5327	retinal detachment	AIFM1 APOA4 CCL2 CFH COL2A1 EDN1 EPO EPOR FAS FGFR1 IL6 NTRK1 PRKCQ TNF	1280 1906 2056 2057 2260 3075 337 355 3569 4914 5588 6347 7124 9131	Homo sapiens (human)	Alliance of Genome Resources

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