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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 **3951 - 3975** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0110731	neuronal ceroid lipofuscinosis 3 Aliases: Batten disease CLN3 juvenile neuronal ceroid lipofuscinosis	CLCN3 CLCN6 CLN3 PPT1	1182 1185 1201 5538	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111815	low molecular weight proteinuria with hypercalciuric nephrocalcinosis	CLCN3 CLCN5	1182 1184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050699	Dent disease Aliases: Dent disease 1 Dent disease 2 Dent's disease	CLCN3 CLCN5	1182 1184	Homo sapiens (human)	Alliance of Genome Resources
DOID:13533	osteopetrosis Aliases: Albers-Schonberg disease marble bone	CLCN3 CLCN5 CSF1 GHR LRRK1 MITF PLEKHM1 SLC4A2	1182 1184 1435 2690 4286 6522 79705 9842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111312	idiopathic generalized epilepsy 11 Aliases: EIG11	CLCN2	1181	Homo sapiens (human)	Alliance of Genome Resources
DOID:10579	leukodystrophy	AARS1 ACER3 CLCN2 EIF2S1 EIF2S2 EIF2S3 SDHA	1181 16 1965 1968 55331 6389 8894	Homo sapiens (human)	Alliance of Genome Resources
DOID:446	primary hyperaldosteronism Aliases: Cushing syndrome Cushing's syndrome hyperaldosteronism	CACNA1H CLCN2 CYBB CYP11B1 CYP11B2 DRD2 KCNJ5 NR3C1 REN SERPINA1	1181 1536 1584 1585 1813 2908 3762 5265 5972 8912	Homo sapiens (human)	Alliance of Genome Resources
DOID:11044	gastroschisis	ADD1 IGF1R KIT LRP1 NOS2	118 3480 3815 4035 4843	Homo sapiens (human)	Alliance of Genome Resources
DOID:13809	familial combined hyperlipidemia Aliases: familial multiple lipoprotein-type hyperlipidemia hyperbetalipoproteinemia with prebetalipoproteinemia mixed hyperlipidaemia type IIb hyperlipoproteinemia	ADD1 ALPL APOA2 APOB APOC3 APOE LIPC LPL SERPINE1 THBD VWF	118 249 336 338 345 348 3990 4023 5054 7056 7450	Homo sapiens (human)	Alliance of Genome Resources
DOID:10908	hydrocephalus Aliases: hydrocephalus, X-linked hydrocephalus, nonsyndromic, autosomal recessive	ADD1 AQP1 AQP4 CCDC39 CCDC88C CELSR2 HMGB1 HSPD1 HYDIN ITGB1 KIF27 L1CAM MBOAT7 MPDZ NTF3 POMK PPARA SMARCC1 TMEM67	118 1952 3146 3329 339829 358 361 3688 3897 440193 4908 5465 54768 55582 6599 79143 84197 8777 91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:3328	temporal lobe epilepsy Aliases: epilepsy, temporal lobe	ABCB1 ACTB ADD1 AGT AK2 AQP4 AVP AZGP1 CACNA1A CDC42 CRHBP CXCR4 CYFIP1 DBN1 DTNBP1 FOS FOXO3 GDNF GLUD1 GLUD2 GLUL GRIK5 GRIN2B GRM1 HCN1 HDAC2 KCNA1 KCNN4 MAP2 MAPT MBP MMP9 MTOR NOS1 NPY1R NPY2R NTRK2 PGF PRICKLE1 PTPRZ1 RASGRF1 RELN RGMA SHH SLC32A1 SLC6A1 VDAC2	118 1393 140679 144165 1627 183 204 2309 23191 2353 2475 2668 2746 2747 2752 2901 2904 2911 3066 348980 361 3736 3783 4133 4137 4155 4318 4842 4886 4887 4915 5228 5243 551 563 5649 56963 5803 5923 60 6469 6529 7417 773 7852 84062 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081361	spastic quadriplegic cerebral palsy 3 Aliases: CPSQ3	ADD1 ADD2 ADD3	118 119 120	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060549	Barber-Say syndrome	TWIST2	117581	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060550	ablepharon macrostomia syndrome	TWIST2	117581	Homo sapiens (human)	Alliance of Genome Resources
DOID:14768	Saethre-Chotzen syndrome	FGFR2 TWIST1 TWIST2	117581 2263 7291	Homo sapiens (human)	Alliance of Genome Resources
DOID:2055	post-traumatic stress disorder Aliases: PTSD traumatic neurosis	ADCYAP1R1 BAX BDNF CASP9 GRIN2A HSPA5 IL2 MDM2 NR3C1 NTRK2 OPRM1 PDIA3 WFS1	117 2903 2908 2923 3309 3558 4193 4915 4988 581 627 7466 842	Homo sapiens (human)	Alliance of Genome Resources
DOID:1679	cystitis	ADCYAP1R1 BDNF CAT CSF3 CX3CL1 IL2 IL4 KDR LTA MIF MPO MUC2 MUC5AC NGF NGFR PTGER4 PTGS2 SOD1 SOD2 TACR1 TLR5 TNF	117 1440 3558 3565 3791 4049 4282 4353 4583 4586 4803 4804 5734 5743 627 6376 6647 6648 6869 7100 7124 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:1969	cerebral palsy Aliases: infantile cerebral palsy	ADD1 ADD2 ADD3 AGAP1 AGAP5 AGAP9	116987 118 119 120 642517 729092	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112311	male infertility due to acephalic spermatozoa	CNTROB	116840	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111421	familial apolipoprotein A5 deficiency Aliases: familial APOA5 deficiency familial apolipoprotein A-V deficiency	APOA5	116519	Homo sapiens (human)	Alliance of Genome Resources
DOID:1171	hyperlipoproteinemia type V Aliases: Fredrickson type V lipaemia familial hyperlipoproteinemia type V familial type 5 hyperlipoproteinemia	APOA5	116519	Homo sapiens (human)	Alliance of Genome Resources
DOID:1172	hyperlipoproteinemia type IV Aliases: Endogenous hyperlipidaemia Fredrickson type IV Lipidemia Fredrickson type IV hyperlipoproteinemia Fredrickson type IV lipidaemia VLDL hyperlipoproteinemia familial hypertriglyceridemia	APOA5 APOC2	116519 344	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:0112329	pontocerebellar hypoplasia type 2F Aliases: PCH2F	TSEN15	116461	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070168	spermatogenic failure 3 Aliases: SPGF3	SLC26A8 SRSF6	116369 6431	Homo sapiens (human)	Alliance of Genome Resources

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