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GlyCosmos Diseases

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

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1401 - 1425** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0070116	Meckel syndrome 2 Aliases: MKS2 Meckel-Gruber syndrome, type 2	ALG8 ALG9 ARF4 PKD1 PKD2 UMOD	378 5310 5311 7369 79053 79796	Homo sapiens (human)
DOID:4505	childhood angiosarcoma Aliases: paediatric angiosarcoma paediatric hemangiosarcoma pediatric angiosarcoma pediatric hemangiosarcoma	CHGA DCN PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PTEN SMUG1	1113 1634 23583 5290 5291 5293 5294 5335 5728	Homo sapiens (human)
DOID:0060835	isolated microphthalmia 6 Aliases: MCOP6 posterior nonsyndromic microphthalmia	ALDH1A3	220	Homo sapiens (human)
DOID:12177	common variable immunodeficiency Aliases: CVID acquired agammaglobulinemia acquired hypogammaglobulinemia common variable agammaglobulinemia sporadic hypogammaglobulinemia	CD14 CD1D CD38 CDH13 CHIT1 CLEC16A DAG1 FCGR3B FCN2 FUT2 IL18R1 MBL2 MRC1 NCAM1 NEIL1 PIK3CD SDC1 SMUG1	1012 1118 1605 2215 2220 23274 23583 2524 4153 4360 4684 5293 6382 79661 8809 912 929 952	Homo sapiens (human)
DOID:0060675	catecholaminergic polymorphic ventricular tachycardia 1 Aliases: CVPT1 arrhythmogenic right ventricular dysplasia 2	ACADVL ACE CALR CHPT1 CNTN3 FKRP FUT1 GOLPH3 GYG1 PTGS2 SCD THEM5	1636 2523 284486 2992 37 5067 56994 5743 6319 64083 79147 811	Homo sapiens (human)
DOID:345	uterine disease	AKR1C2 CYP19A1 HSD17B1	1588 1646 3292	Homo sapiens (human)
DOID:8712	neurofibromatosis	APRT CAT CD14 CD38 CD44 CEL CNTN2 CYP19A1 CYP2E1 DHDDS ENO2 FASN FH G6PD HSD17B6 IDH1 IDH2 MRC1 MTAP PGD PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PTEN PTGDS PTGS2 SDHB SDHC SDHD SIRT2 SMUG1 SORD TMEM165	1056 1571 1588 2026 2194 2271 22933 23583 2539 3417 3418 353 4360 4507 5226 5290 5291 5293 5294 5310 55858 5728 5730 5743 6390 6391 6392 6652 6900 79947 847 8630 929 952 960	Homo sapiens (human)
DOID:700	mitochondrial metabolism disease	ACACA ACOX1 AGK ALDH2 APRT ARSA CERS6 CPT2 CS DHDDS ECHS1 FOLR2 GAA GBE1 GGT1 GPX1 HADHB HMGCL HSD17B6 MMUT OGG1 PDHA1 PLCE1 SDHA SDHB SDHC SLC25A1 SLC39A8 SOAT1 SORD SULT1E1 TYMP	1376 1431 1890 1892 217 2350 253782 2548 2632 2678 2876 3032 31 3155 353 410 4594 4968 51 51196 5160 55750 6389 6390 6391 64116 6576 6646 6652 6783 79947 8630	Homo sapiens (human)
DOID:10866	total third-nerve palsy Aliases: Third nerve palsy with pupil involved Third or oculomotor nerve palsy, total Total third nerve palsy	ACSM3	6296	Homo sapiens (human)
DOID:0080153	medium chain acyl-CoA dehydrogenase deficiency	ACADM ACADS ARSA CPT1A CPT2 SLC17A5	1374 1376 26503 34 35 410	Homo sapiens (human)
DOID:0110537	autosomal recessive nonsyndromic deafness 93 Aliases: DFNB93 autosomal recessive deafness 93	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:10887	lepromatous leprosy Aliases: type L leprosy	CD1D CD74 DPEP1 FCN1 ICAM1 ICAM2 IL1R1 MASP2 MBL2 SELE VCAM1	10747 1800 2219 3383 3384 3554 4153 6401 7412 912 972	Homo sapiens (human)
DOID:0050570	congenital disorder of glycosylation type I	ALG11 ALG12 ALG13 ALG1 ALG1L2 ALG2 ALG3 ALG5 ALG6 ALG8 ALG9 ATP6V0A2 COG1 COG4 COG8 DDOST DOLK DPAGT1 DPM1 DPM2 DPM3 MAN1A1 MAN1B1 MOGS MPDU1 MPI OGA PGM1 PMM1 PMM2 RFT1 SLC35A2 SLC39A8 SRD5A3 STT3A	10195 10724 11253 1650 1798 22845 23545 25839 29880 29929 3703 4121 4351 440138 5236 5372 5373 54344 56052 64116 644974 7355 7841 79053 79087 79644 79796 79868 84342 85365 8813 8818 91869 9382 9526	Homo sapiens (human)
DOID:4254	osteosclerosis	AGXT ALPL ARSA ATP6V0A2 CLC DEGS1 DHCR24 ENPP1 EXTL2 EXTL3 GBA1 HSPG2 LPIN2 PTDSS1 SLC26A2 TBXAS1	1178 1718 1836 189 2135 2137 23545 249 2629 3339 410 5167 6916 8560 9663 9791	Homo sapiens (human)
DOID:11335	sarcoidosis Aliases: Boeck sarcoid lymphogranulomatosis	ACE CALR CAT CD14 CD55 CEL CHI3L1 CHIT1 CYP21A2 CYP27B1 EPHX2 FCGR3B FCN3 IL18R1 LGALS1 LYZ MANBA MASP2 MRC1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PLB1 PTGS2 RECK SELE SFTPD SLC27A5 SMUG1 SOAT1 ST8SIA4 VTCN1	1056 10747 10998 1116 1118 151056 1589 1594 1604 1636 2053 2215 23583 3956 4069 4126 4360 4684 5290 5291 5293 5294 5743 6401 6441 6646 7903 79679 811 83666 8434 847 8547 8809 929	Homo sapiens (human)
DOID:9477	pulmonary embolism Aliases: pulmonary artery embolism pulmonary embolus	ABO ACE CAT CD55 CHGA DPEP1 EXTL3 PCYT1A PIGA PTEN QTRT1 SELE SELP SIRT2 TBXAS1 VCAM1	1113 1604 1636 1800 2137 22933 28 5130 5277 5728 6401 6403 6916 7412 81890 847	Homo sapiens (human)
DOID:14775	brittle cornea syndrome 1 Aliases: type VIB Ehlers-Danlos syndrome	CHST14	113189	Homo sapiens (human)
DOID:7187	subacute lymphocytic thyroiditis	SMUG1	23583	Homo sapiens (human)
DOID:12960	acrocephalosyndactylia Aliases: Apert syndrome	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:0070152	hereditary sensory and autonomic neuropathy type 1A Aliases: HSAN1A hereditary sensory and autonomic neuropathy type IA	AGXT CYP4F3 GAS1 SPTLC1 SPTLC2	10558 189 2619 4051 9517	Homo sapiens (human)
DOID:13271	cutaneous porphyria Aliases: Erythropoietic porphyria	CEL FUT1 PARP9 SLC27A5 SUCLA2	1056 10998 2523 83666 8803	Homo sapiens (human)
DOID:0050877	pancreatic agenesis Aliases: Agenesis of the dorsal pancreas partial pancreatic agenesis	PDX1	3651	Homo sapiens (human)
DOID:0060196	amyotrophic lateral sclerosis type 4 Aliases: ALS 4 amyotrophic lateral sclerosis 4 amyotrophic lateral sclerosis 4, juvenile dHMN with upper motor neuron signs distal hereditary motor neuropathy with pyramidal features distal hereditary motor neuropathy with upper motor neuron signs	ACHE APRT ASAH1 CAT CLEC10A FCN2 FIG4 GFRA1 HEXB HK2 NT5E OGA PNPLA6 SARM1 TIGAR TMED9	10462 10724 10908 2220 23098 2674 3074 3099 353 427 43 4907 54732 57103 847 9896	Homo sapiens (human)
DOID:12306	vitiligo	ABO ACE ACHE ALOX12 C1GALT1C1 CALR3 CALR CANX CAT CBR1 CD44 COMT CYP21A2 FADS1 FADS2 G6PD GPX1 HPGDS ICAM1 IL1RAPL1 ISYNA1 KLRC1 MBL2 NEU1 PARP12 PARP1 PGD PGP PIK3CA PIK3CB PIK3CD PIK3CG PLCB3 PLCG2 PRNP PTGS2 SOAT1 TLR2 TLR4 TNF	11141 125972 1312 142 1589 1636 239 2539 27306 28 283871 2876 29071 3383 3821 3992 4153 43 4758 51477 5226 5290 5291 5293 5294 5331 5336 5621 5743 64761 6646 7097 7099 7124 811 821 847 873 9415 960	Homo sapiens (human)
DOID:0050662	bestrophinopathy Aliases: autosomal recessive bestrophinopathy	ACE CAT SLC33A1	1636 847 9197	Homo sapiens (human)

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