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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 **7801 - 7825** of **7942** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:0110219	Brugada syndrome 2 Aliases: BRGDA2	gpd1l.L	379962	Xenopus laevis (African clawed frog)
DOID:0110219	Brugada syndrome 2 Aliases: BRGDA2	gpd1l	449663	Danio rerio (zebrafish)
DOID:0110218	Brugada syndrome 1 Aliases: BRGDA1	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:0060231	Bruck syndrome Aliases: osteogenesis imperfecta with congenital joint contractures	Plod	39265	Drosophila melanogaster (fruit fly)
DOID:14456	Brucella melitensis brucellosis	APRT CD14 MICA OXSM	100507436 353 54995 929	Homo sapiens (human)
DOID:0050693	Brooke-Spiegler syndrome Aliases: BRSS BSS CYLD cutaneous syndrome SBS Spiegler-Brooke Syndrome	PNPLA6 XYLT1	10908 64131	Homo sapiens (human)
DOID:11254	Brill-Zinsser disease Aliases: Brill Zinsser disease Brill's disease Recrudescent typhus	CS	1431	Homo sapiens (human)
DOID:0111265	Boucher-Neuhauser syndrome Aliases: ataxia-hypogonadism-choroidal dystrophy syndrome	PNPLA6	10908	Homo sapiens (human)
DOID:0050681	Borjeson-Forssman-Lehmann syndrome Aliases: BFLS BORJ Borjeson syndrome MRXSBFL intellectual deficiency-epilepsy-endocrine disorders syndrome mental retardation, epilepsy, and endocrine disorder syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type	HPRT1	3251	Homo sapiens (human)
DOID:2717	Bloom syndrome Aliases: Bloom-Torre-Machacek syndrome Congenital Telangiectatic Erythema syndrome	ALPP APRT ATRNL1 CAT HPSE2 LCAT PKM PLAUR SCD UNG	250 26033 353 3931 5315 5329 60495 6319 7374 847	Homo sapiens (human)
DOID:12305	Bloch-Sulzberger syndrome Aliases: Incontinentia pigmenti Incontinentia pigmenti syndrome	ACACA CD38 CEL CHIT1 CLEC7A COLEC11 CYP1B1 CYP51A1 G6PD IL1R1 MASP1 MPG NSDHL PARP9 SFTPD SLC27A5 SMUG1	1056 10998 1118 1545 1595 23583 2539 31 3554 4350 50814 5648 6441 64581 78989 83666 952	Homo sapiens (human)
DOID:0050678	Blau syndrome Aliases: ARTHROCUTANEOUVEAL GRANULOMATOSIS BLAUS Jabs syndrome	ATP6AP2	10159	Homo sapiens (human)
DOID:0050664	Bietti crystalline corneoretinal dystrophy Aliases: Bietti's crystalline dystrophy	CYP2B6 SCD	1555 6319	Homo sapiens (human)
DOID:0050663	Bethlem myopathy Aliases: benign congenital muscular dystrophy	Col6a1	12833	Mus musculus (house mouse)
DOID:0050663	Bethlem myopathy Aliases: benign congenital muscular dystrophy	COL6A1 DAG1 FKRP HSPG2	1291 1605 3339 79147	Homo sapiens (human)
DOID:2217	Bernard-Soulier syndrome Aliases: Bernard - Soulier thrombopathy Bernard Soulier syndrome Giant platelet syndrome Hemorrhagic dystrophic thrombocytopenia Thrombopathy, Bernard-Soulier	LGALS8 PRNP XYLT1	3964 5621 64131	Homo sapiens (human)
DOID:12506	Bell's palsy Aliases: Bell palsy Bell's (facial) palsy	ACADS ACSL4 AGRN ALG13 ALG14 ALG2 ASAH1 CHKB DPAGT1 FKRP GFPT1 GMPPB GNE HPGDS IL1RAPL1 LARGE1 MTM1 MTMR14 MTMR2 POMT1 POMT2 PTDSS1 SMUG1	10020 10585 11141 1120 1798 199857 2182 23583 2673 27306 29925 29954 35 375790 427 4534 64419 79147 79868 85365 8898 9215 9791	Homo sapiens (human)
DOID:13241	Behcet's disease Aliases: Adamantiades-Behcet disease Behcet syndrome Behet's syndrome triple symptom complex	Tlr4 Tnf	24835 29260	Rattus norvegicus (Norway rat)
DOID:13241	Behcet's disease Aliases: Adamantiades-Behcet disease Behcet syndrome Behet's syndrome triple symptom complex	Adipoq Tlr2 Tlr4 Tnf	11450 21898 21926 24088	Mus musculus (house mouse)
DOID:13241	Behcet's disease Aliases: Adamantiades-Behcet disease Behcet syndrome Behet's syndrome triple symptom complex	ACE ACLY ADIPOQ ANXA5 ARSA CA4 CALR CAT CD14 CD209 CLEC16A CLEC7A CNTN5 CYP1A1 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C9 DHCR7 ENO1 FCGR3B FCN2 FUT2 GAL3ST1 GLB1 ICAM1 IL1R1 KLRC1 KLRD1 KLRK1 LGALS3 LYZ MBL2 MICA MRC1 NEIL1 PAFAH1B1 PLA2G1B PLA2G2A PLA2G6 PRSS21 SELE SELL SLC35A1 SOAT1 TLR2 TLR4 TNF TPI1 VCAM1	100507436 10559 10942 1543 1555 1557 1559 1591 1594 1636 1717 2023 2215 2220 22914 23274 2524 2720 308 30835 3383 3554 3821 3824 3958 4069 410 4153 4360 47 5048 5319 5320 53942 6401 6402 64581 6646 7097 7099 7124 7167 7412 762 79661 811 8398 847 929 9370 9514	Homo sapiens (human)
DOID:13241	Behcet's disease Aliases: Adamantiades-Behcet disease Behcet syndrome Behet's syndrome triple symptom complex	Tl	43222	Drosophila melanogaster (fruit fly)
DOID:5572	Beckwith-Wiedemann syndrome	Kcnq1	16535	Mus musculus (house mouse)
DOID:5572	Beckwith-Wiedemann syndrome	ARSD ASAH1 CD48 CSPG5 GPC3 IGF2R IL1RL1 LGALS1 PGAP2 PIK3CA SMUG1	10675 23583 2719 27315 3482 3956 414 427 5290 9173 962	Homo sapiens (human)
DOID:9883	Becker muscular dystrophy Aliases: Benign pseudohypertrophic muscular dystrophy benign congenital myopathy	ACE ALDH7A1 ALOX12 ALPP APRT ATRNL1 DAG1 FKRP GAA GK LARGE1 RGN	1605 1636 239 250 2548 26033 2710 353 501 79147 9104 9215	Homo sapiens (human)
DOID:445	Bartter disease Aliases: Aldosteronism with hyperplasia of the adrenal cortex Bartter's syndrome	ATP6AP2 CD44 CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 CYP4F3 G6PD HSD11B2 HSD3B1 HSD3B2 LGALS3 OCRL PRSS8 PTGS2 SLC26A2 SLC33A1 SLC5A1	10159 1583 1584 1585 1586 1589 1836 2539 3283 3284 3291 3958 4051 4952 5652 5743 6523 9197 9469 960	Homo sapiens (human)

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