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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 **2051 - 2075** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
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:786	laryngeal disease	ACAN AKR1A1 ALDH2 CALR CEACAM6 CYP1A1 CYP2B6 DCN DPEP1 DPEP2 DPEP3 EBP GALC HPGDS MPI MRC1 NT5E PTGS2 SGPL1 SHMT1 SMUG1 UGT1A7 UGT2A1 VCAM1 VCAN	10327 10682 10941 1462 1543 1555 1634 176 1800 217 23583 2581 27306 4351 4360 4680 4907 54577 5743 64174 64180 6470 7412 811 8879	Homo sapiens (human)
DOID:0080334	aortic valve disease 2	ACAN ACE ALOX5 ARSD ATP6AP2 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CD14 CHST3 CTSA CYP11B2 CYP24A1 EBP ENO3 ENPP1 FCGR3B FH GAPDH GLB1 GNPTG IDUA LGALS3 LGALS4 MPG NT5E OGA OGT PIK3CA PIK3CB PIK3CD PIK3CG PSAP PTDSS1 SDC1 SDC4 SLC2A10 STS	10159 10682 10724 11285 126792 1585 1591 1636 176 2027 2215 2271 23545 240 2597 26229 2720 3425 3958 3960 412 414 4350 4907 5167 5290 5291 5293 5294 5476 5660 6382 6385 81031 84572 8473 929 9469 9791	Homo sapiens (human)
DOID:0112171	wrinkly skin syndrome Aliases: WSS	ATP6V0A2	23545	Homo sapiens (human)
DOID:4184	pseudohypoparathyroidism	ADH1A APRT ASAH1 COMT CYP27B1 CYP2R1 DGCR2 GPC1 HADHA HADHB ST8SIA4 STS	120227 124 1312 1594 2817 3030 3032 353 412 427 7903 9993	Homo sapiens (human)
DOID:7551	gonorrhea Aliases: chronic gonococcal infectious disease of lower genitourinary tract chronic gonococcal infectious disease of upper genitourinary tract	ABO CAT CD44 CEACAM5 FDPS INPPL1 NDUFAB1 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SDC1 UMPS	1048 2224 28 3636 4706 5290 5291 5293 5294 5743 6382 7372 847 960	Homo sapiens (human)
DOID:0110767	hereditary spastic paraplegia 14 Aliases: SPG14 autosomal recessive spastic paraplegia 14 autosomal recessive spastic paraplegia type 14	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:4944	gastroesophageal junction adenocarcinoma Aliases: adenocarcinoma of Cardioesophageal junction	HPGDS NEU1 PTEN PTGS2 SMUG1	23583 27306 4758 5728 5743	Homo sapiens (human)
DOID:0060556	Kufor-Rakeb syndrome Aliases: autosomal recessive Parkinson disease 9 autosomal recessive juvenile onset Parkinson disease 9	PLA2G1B PLB1	151056 5319	Homo sapiens (human)
DOID:5998	microglandular adenosis Aliases: Adenosis - breast Adenosis of the breast	ACE CEACAM5 CEACAM7 COMT CRLS1 CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1B1 DCN GFRA1 GLA HSD17B1 INPP4B LPCAT1 MICA NCAM1 PTEN PTGS2 SDC3	100507436 1048 1087 1312 1543 1545 1583 1586 1588 1634 1636 2674 2717 3292 4684 54675 5728 5743 79888 8821 9672	Homo sapiens (human)
DOID:11665	Patau syndrome Aliases: D1 Trisomy trisomy 13	ALDH2 CALR CD38 CD55 CHPT1 CYP19A1 DHDDS EBP GK IDUA IL1RAPL1 LGALS1 PARP1 PNPLA6 SOAT1 STS	10682 10908 11141 142 1588 1604 217 2710 3425 3956 412 56994 6646 79947 811 952	Homo sapiens (human)
DOID:4284	anal margin carcinoma Aliases: Perianal skin carcinoma	CEACAM5 CEACAM7 LIPA PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1	1048 1087 23583 3988 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:2320	obstructive lung disease Aliases: respiratory airway obstruction	ACOT7 ALPI ALPP CAT GLA LTC4S MBL2 SFTPA1 SFTPA2 SFTPC SFTPD SLC2A10	11332 248 250 2717 4056 4153 6440 6441 653509 729238 81031 847	Homo sapiens (human)
DOID:303	substance-related disorder	ABAT ACACA ACE ACHE ACSS2 ADH1A ADH1C ADH4 ADH7 AKR1A1 ALDH2 AMY1A AMY1B AMY1C ARSD ARSF CD38 CDH13 CDS1 CEACAM5 CEACAM7 CEL CERS6 CHPT1 COLEC12 COMT CYP1A2 CYP2B6 CYP2C19 CYP2C9 CYP2E1 DBT DEGS1 DHDDS EHHADH ENO1 GAD1 GAL3ST1 GBA3 GPX1 GSK3B HACD1 HSD11B2 LGALS1 MACROD2 MAG MDH2 MGLL NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2R1 PLCB1 PNP PTEN SARM1 SLC35A1 ST8SIA4 UGT2B17 XYLT1	1012 10327 1040 1048 10559 1056 1087 11343 124 126 127 131 1312 140733 1544 1555 1557 1559 1571 1629 1636 18 1962 2023 217 22925 23098 23236 23659 253782 2571 276 277 278 2876 2932 31 3291 3956 4099 414 416 4191 43 4684 4860 5290 5291 5293 5294 55902 56994 5728 57733 64131 7367 7903 79947 81035 83666 8560 9200 9514 952	Homo sapiens (human)
DOID:0110937	autosomal dominant osteopetrosis 1 Aliases: OPTA1 autosomal dominant osteopetrosis type 1	LRP5	4041	Homo sapiens (human)
DOID:1391	Norum disease Aliases: LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY lecithin acyltransferase deficiency	EFNA5 GPLD1 HADHA HADHB HSD11B1 HSPG2 IL18R1 LCAT LGALS1 LPL PIK3C2A PLA2G10 PLA2G2A PLA2G7 ST8SIA4	1946 2822 3030 3032 3290 3339 3931 3956 4023 5286 5320 7903 7941 8399 8809	Homo sapiens (human)
DOID:0080556	congenital disorder of glycosylation Id Aliases: congenital disorder of glycosylation 1d	ALG3 MPDU1 PMM2	10195 5373 9526	Homo sapiens (human)
DOID:0110226	Brugada syndrome 9 Aliases: BRGDA9	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:9254	mast-cell leukemia	ACLY CD33 ENPP3 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SMPD1	47 5169 5290 5291 5293 5294 5743 6609 945	Homo sapiens (human)
DOID:0060673	Peters anomaly	B3GALNT2 B3GLCT B4GAT1 CHST14 CRPPA CYP1B1 DAG1 EBP FKRP FKTN HSPG2 LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SC5D SMC3	10329 10585 10682 11041 113189 145173 148789 1545 1605 2218 29954 3339 55624 6309 729920 79147 84197 84892 9126 9215	Homo sapiens (human)
DOID:2156	ovarian germ cell cancer Aliases: germ cell neoplasm of Ovary germ cell tumor of ovary	PTEN	5728	Homo sapiens (human)
DOID:0110008	achromatopsia 3 Aliases: ACHM1 ACHM3 Pingelapese blindness RMCH1 rod monochromacy 1 rod monochromatism 1	NYX	60506	Homo sapiens (human)
DOID:0070115	Meckel syndrome 1 Aliases: MKS1 Meckel-Gruber syndrome, type 1	ALDH1A3 ALG8 ALG9 ARF4 INPP5E PKD1 PKD2 PTGDS UMOD	220 378 5310 5311 56623 5730 7369 79053 79796	Homo sapiens (human)
DOID:9169	Wiskott-Aldrich syndrome Aliases: Wiskott syndrome	FCER2 FUT1 G6PC3 G6PD PGK1 PKD2	2208 2523 2539 5230 5311 92579	Homo sapiens (human)
DOID:14179	X-linked agammaglobulinemia Aliases: BTK deficiency Bruton agammaglobulinemia tyrosine kinase deficiency Bruton disease Bruton's Sex-Linked Agammaglobulinemia Bruton's agammaglobulinaemia Bruton's type agammaglobulinemia Bruton-type agammaglobulinemia	CD14 FCER2 FCGR3B GLA NT5E PIK3CA PIK3CB PIK3CD PIK3CG	2208 2215 2717 4907 5290 5291 5293 5294 929	Homo sapiens (human)

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