GlyCosmos Portal

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

Displaying entries **3526 - 3550** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:986	alopecia areata Aliases: Circumscribed alopecia	ABO ACE CLEC16A ICAM1 LGALS8 SOAT1	1636 23274 28 3383 3964 6646	Homo sapiens (human)
DOID:0111181	familial hemiplegic migraine 1 Aliases: FHM1 MHP1 familial hemiplegic migraine1 with progressive cerebellar ataxia	PMM2 PRKCSH	5373 5589	Homo sapiens (human)
DOID:0080324	tuberous sclerosis 1	ABO AMACR APRT CANX CBR1 FCN2 HEXD ICAM1 MLYCD OGA OGG1 PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLB1 PLCD1 PRKAA2 PTEN PTGS1 PTGS2 SDC2 SDHB SORD TKT	10724 151056 2220 23417 23600 28 284004 3383 353 4968 5289 5290 5291 5293 5294 5310 5333 5563 5728 5742 5743 6383 6390 6652 7086 821 873	Homo sapiens (human)
DOID:13254	diverticulitis of colon Aliases: colonic diverticular disease	SDC1	6382	Homo sapiens (human)
DOID:3012	Li-Fraumeni syndrome Aliases: LFS Li-Fraumeni Familiar cancer Susceptibility syndrome SBLA syndrome sarcoma, breast, leukaemia and adrenal gland syndrome	CD44 CYP19A1 DCN IDH1 PKM PTEN TP53	1588 1634 3417 5315 5728 7157 960	Homo sapiens (human)
DOID:5759	sebaceous gland neoplasm Aliases: Sebaceous neoplasm	MRC1	4360	Homo sapiens (human)
DOID:790	ocular hypotension Aliases: Hypotony of eye	ACE PRNP	1636 5621	Homo sapiens (human)
DOID:0060862	mal de Meleda Aliases: Meleda disease keratosis palmoplantaris transgrediens of Siemens transgrediens palmoplantar keratoderma of Siemens	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 MMUT PARP1 PIGL PIK3CA PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 4594 5290 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:0112382	muscular dystrophy-dystroglycanopathy type C8 Aliases: LGMDR24 MDDGC2 autosomal recessive limb-girdle muscular dystrophy 24 muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related	POMGNT2	84892	Homo sapiens (human)
DOID:13186	megaesophagus	AGA CALR ECI1 FUT3 GMPPA	1632 175 2525 29926 811	Homo sapiens (human)
DOID:11502	mitral valve insufficiency Aliases: Congenital insufficiency of mitral valve Mitral valve incompetence congenital mitral insufficiency congenital mitral regurgitation mitral regurgitation	ABO ACE AGA B3GALT6 B3GAT3 CHST3 DSE ENPP1 G6PC3 GLA HADHA HADHB IDUA PLD1 PRKAA2 SCD XYLT1 XYLT2	126792 1636 175 26229 2717 28 29940 3030 3032 3425 5167 5337 5563 6319 64131 64132 92579 9469	Homo sapiens (human)
DOID:0110827	Usher syndrome type 2 Aliases: USH2	ARSG ASAH1 PLD4	122618 22901 427	Homo sapiens (human)
DOID:0111529	familial multiple nevi flammei Aliases: CMC congenital capillary malformations familial multiple port-wine stains	CYP1B1 ICAM1 KLRB1 MAG PIK3CA PIK3CB PIK3CD PIK3CG	1545 3383 3820 4099 5290 5291 5293 5294	Homo sapiens (human)
DOID:0110548	autosomal dominant nonsyndromic deafness 17 Aliases: DFNA17 autosomal dominant deafness 17	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:3388	periodontal disease Aliases: disease of supporting structures of teeth periodontium disorder	ACE ALOX5 AMY1A AMY1B AMY1C CAT CD14 FCGR3B GPNMB IL18R1 LGALS9 LYZ MBL2 PNP PTGS2 RECK SELL SLC2A4 SMPD1 VCAM1	10457 1636 2215 240 276 277 278 3965 4069 4153 4860 5743 6402 6517 6609 7412 8434 847 8809 929	Homo sapiens (human)
DOID:5577	gastrinoma Aliases: Gastrin Secreting tumor Gastrin cell tumour malignant gastrinoma	CD44 CHGA PYGM SIGLEC7 SLC2A2	1113 27036 5837 6514 960	Homo sapiens (human)
DOID:0090104	Huntington's disease-like 2 Aliases: HDL2 Huntington disease-like 2	ABAT ACE ACHE ACO1 ACO2 ACSBG1 ALDH7A1 ALOX5 ALPI ALPP APRT ATRNL1 CAT CD14 CERS1 CHAT CHI3L1 CNTN1 COMT CS CYP3A4 CYP46A1 DGKE DHCR24 FCGR3B GAD2 GAPDH GBA2 GLO1 GPX6 GPX7 GYS1 HACD1 HJV HPGDS HSD17B6 IDH1 IDUA IPMK KL LGALS3 LPL MBL2 MGLL MRC1 MUTYH NAAA NCAM1 NT5E OGG1 PARP1 PC PGD PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PNP PPT1 PRKAA2 PRNP PTGS2 QPRT RENBP SGPL1 SIGLEC7 SIRT2 SIRT6 SLC2A3 SLC2A4 SLC39A8 SMUG1 SPHK1 SPHK2 SPTLC1 ST8SIA4 STS TM7SF2 TMED9 UGT1A1	10558 10715 10858 1103 1116 11343 1272 1312 142 1431 148738 1576 1636 1718 18 2215 22933 23205 23475 23583 240 248 250 253430 2572 257202 2597 26033 27036 27163 27306 2739 2882 2997 3417 3425 353 3958 4023 412 4153 43 4360 4595 4684 48 4860 4907 4968 50 501 5091 51548 5226 5290 5291 5293 5294 5335 54658 54732 5538 5563 5621 56848 5743 57704 5973 64116 6515 6517 7108 7903 847 8526 8630 8877 8879 9200 929 9365	Homo sapiens (human)
DOID:13405	cardiac sarcoidosis	CALR SMUG1	23583 811	Homo sapiens (human)
DOID:0060173	Timothy syndrome	HEXD OGA PRKAA2 SCD	10724 284004 5563 6319	Homo sapiens (human)
DOID:11088	asphyxia neonatorum Aliases: Asphyxia - birth Asphyxia, in liveborn infant Birth asphyxia postnatal asphyxia	ALDH7A1 ALG8 CAT ENO2 HSD11B2 MTMR14 PDIA3 PTGS2	2026 2923 3291 501 5743 64419 79053 847	Homo sapiens (human)
DOID:10970	spastic quadriplegic cerebral palsy Aliases: inherited congenital spastic quadriplegia inherited congenital spastic tetraplegia quadriplegic infantile cerebral palsy spastic quadriplegia tetraplegic infantile cerebral palsy	ACHE ACSM1 ACSM2A ALDH3A2 ALPP ARSA ARSD ATRNL1 CAT CD109 CYP24A1 CYP3A4 EFNA5 GAD1 GCDH GLUL GMDS GPX1 HPRT1 IDH1 IDH2 IDUA MBL2 MECR MRC1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNP PTGS1 PTGS2 RENBP SOAT1 ST3GAL5 TIGAR TKTL1 UGT1A1	116285 123876 135228 1576 1591 1946 224 250 2571 26033 2639 2752 2762 2876 3251 3417 3418 3425 410 414 4153 43 4360 4860 51102 5160 5290 5291 5293 5294 5373 54658 57103 5742 5743 5973 6646 8277 847 8869	Homo sapiens (human)
DOID:11994	atrophy of testis	AKR1A1 ALDH2 CHST3 HMMR HPRT1	10327 217 3161 3251 9469	Homo sapiens (human)
DOID:4189	mutism	TMTC2	160335	Homo sapiens (human)
DOID:3263	piebaldism Aliases: PIEBALD TRAIT Partial albinism	ABO CALR	28 811	Homo sapiens (human)
DOID:0110066	amelogenesis imperfecta type 1G Aliases: AI1G AIGFS ERS amelogenesis imperfecta and gingival fibromatosis syndrome amelogenesis imperfecta hypoplastic with nephrocalcinosis amelogenesis imperfecta type IG enamel-renal syndrome enamel-renal-gingival syndrome	AKR1C1 AKR1C2 CACNA2D1 MMP25 TMEM165	1645 1646 55858 64386 781	Homo sapiens (human)

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