GlyCosmos Portal

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

Displaying entries **4176 - 4200** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0111133	focal segmental glomerulosclerosis 8 Aliases: FSGS8	ACE	1636	Homo sapiens (human)
DOID:0090042	torsion dystonia 17	ALDH5A1	7915	Homo sapiens (human)
DOID:0060183	collagenous colitis	CHGA PTEN	1113 5728	Homo sapiens (human)
DOID:0070261	congenital disorder of glycosylation type IIi Aliases: CDG IIi CDG syndrome type IIi CDG2I CDGIIdi COG5-CDG Carbohydrate deficient glycoprotein syndrome type IIi Congenital disorder of glycosylation type 2i	COG5	10466	Homo sapiens (human)
DOID:900	hepatopulmonary syndrome	GBA1 PTEN PTGS2 TNF	2629 5728 5743 7124	Homo sapiens (human)
DOID:0111060	Ambras type hypertrichosis universalis congenita Aliases: Ambras syndrome HTC1	EFNA5	1946	Homo sapiens (human)
DOID:2533	splenic infarction Aliases: Splenic infarct	CYP1A2 SMPD1	1544 6609	Homo sapiens (human)
DOID:11269	chronic apical periodontitis	ALOX5 CD14 ICAM1 SIRT2 SIRT6	22933 240 3383 51548 929	Homo sapiens (human)
DOID:1143	exotropia Aliases: Divergent Strabismus Divergent concomitant strabismus	ACADSB DPAGT1 HADHA NGLY1 PIGQ PRPS1 SLC17A5 SLC35A2	1798 26503 3030 36 55768 5631 7355 9091	Homo sapiens (human)
DOID:14701	propionic acidemia Aliases: GLYCINEMIA, KETOTIC KETOTIC HYPERGLYCINEMIA ketotic II glycinemia ketotic glycinemia propionic aciduria propionyl-CoA carboxylase deficiency	GPX3 MMUT OGG1 PCCA PCCB	2878 4594 4968 5095 5096	Homo sapiens (human)
DOID:1168	familial hyperlipidemia Aliases: familial hyperlipoproteinemia hyperlipemia	ACACA ACADSB ACAT1 ACE ACHE ACLY ACOX1 ACSL3 ACSL5 ADIPOQ AGL AKR1B1 ALOX5 ALPP APRT ARSA ATRNL1 CAT CD38 CD44 CDH13 CEL CPT1A CPT2 CYB5R3 CYP19A1 CYP1A1 CYP1B1 CYP27A1 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP51A1 CYP7A1 DGAT1 DLD FASN FCGR3B FCN1 FDFT1 G6PC1 G6PD GALNT2 GFPT1 GGT1 GLA GLB1 GPIHBP1 GYS2 HADHB HSD11B1 HSPG2 INPP5F KL KLB KLRK1 LCAT LEP LGALS3 LIPA LIPC LPL LYZ NAMPT NEIL1 OLR1 PC PIK3C2G PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLA2G7 PLB1 PNPLA2 PNPLA3 PRKAA2 PTEN PTGS1 PTGS2 RGN SDC1 SDC2 SELP SLC17A5 SLC2A4 SLC37A4 SOAT1 SOAT2 ST3GAL4 VCAM1	1012 10135 1056 1374 1376 151056 152831 1543 1545 1555 1557 1559 1571 1581 1588 1593 1595 1636 1727 1738 178 2181 2194 2215 2219 2222 22876 22914 231 240 250 2538 2539 2542 2590 26033 26503 2673 2678 2717 2720 2998 3032 31 3290 3339 338328 353 36 38 3931 3952 3958 3988 3990 4023 4069 410 43 47 4973 5091 51 51703 5288 5290 5291 5293 5294 5320 5563 57104 5728 5742 5743 6382 6383 6403 6484 6517 6646 7412 7941 79661 80339 8399 8435 847 8694 9104 9365 9370 952 960	Homo sapiens (human)
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	ACAN COL9A2 COMT POFUT1 POGLUT1	1298 1312 176 23509 56983	Homo sapiens (human)
DOID:0110820	hereditary spastic paraplegia 75 Aliases: SPG75 autosomal recessive spastic paraplegia 75 autosomal recessive spastic paraplegia type 75	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:0080072	intestinal pseudo-obstruction Aliases: Chronic intestinal pseudo-obstruction neuronal intestinal dysplasia	PTEN	5728	Homo sapiens (human)
DOID:0110480	autosomal recessive nonsyndromic deafness 22 Aliases: DFNB22 autosomal recessive deafness 22	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:3146	lipid metabolism disorder Aliases: dyslipidemia fatty acid metabolism disorder	ALDH3A2 CPT1A CPT2 CYP7B1 DGAT1 DHCR24 FADS2 HADHA HADHB HSD17B4 LEP LIPC LPIN1 LPIN2 LPIN3 PPARA	1374 1376 1718 224 23175 3030 3032 3295 3952 3990 5465 64900 8694 9415 9420 9663	Homo sapiens (human)
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	CHSY1 TGDS	22856 23483	Homo sapiens (human)
DOID:11080	myiasis Aliases: Infestation by fly larvae Infestation by maggots Maggot infestation	ACO1 ALOX12 CD44 DGAT1 FDPS FUT2 FUT3 GPAT3 HSPG2 ICAM1 IL18R1 MICA TPI1	100507436 2224 239 2524 2525 3339 3383 48 7167 84803 8694 8809 960	Homo sapiens (human)
DOID:12841	ancylostomiasis	CHIT1	1118	Homo sapiens (human)
DOID:0060263	porencephaly	COLGALT1	79709	Homo sapiens (human)
DOID:28	endocrine system disease	B4GALT1 GAD1 PDIA3	2571 2683 2923	Homo sapiens (human)
DOID:2785	Dandy-Walker syndrome Aliases: Atresia of foramina of Magendie and Luschka	ATP6V0A2 ATP6V1A B3GALNT2 B4GALT1 B4GAT1 COG8 CRPPA DAG1 DHCR7 EBP FKRP FKTN GPC3 LARGE1 PIGN PMM2 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SLC35A2	10329 10585 10682 11041 148789 1605 1717 2218 23545 23556 2683 2719 29954 523 5373 55624 729920 7355 79147 84197 84342 84892 9215	Homo sapiens (human)
DOID:0080492	leukocyte adhesion deficiency 2	DHCR7 DLD FUT4 SLC35C1	1717 1738 2526 55343	Homo sapiens (human)
DOID:13381	pernicious anemia Aliases: ANEMIA PERNICIOUS Addison's anaemia Biermer's anaemia Biermer's anemia pernicious anaemia	FUT6 GAD2	2528 2572	Homo sapiens (human)
DOID:0060869	late-onset retinal degeneration Aliases: LORD autosomal dominant late-onset retinal degeneration	HKDC1	80201	Homo sapiens (human)

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