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GlyCosmos Diseases

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

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

Displaying entries **3126 - 3150** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0110729	neuronal ceroid lipofuscinosis 6A Aliases: CLN6 neuronal ceroid lipofuscinosis 6 neuronal ceroid lipofuscinosis 6 variable age of onset	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PKD1 PPT1 PPT2 PSAP SMPD1	1203 22901 2571 2572 3956 47 5310 5538 5660 6609 7957 9374	Homo sapiens (human)
DOID:12237	bile reflux	PTGS2	5743	Homo sapiens (human)
DOID:0112349	hereditary spastic paraplegia 81 Aliases: SPG81 autosomal recessive complex SPG due to Kennedy pathway dysfunction autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction spastic paraplegia 81 autosomal recessive	SELENOI	85465	Homo sapiens (human)
DOID:3781	anovulation	CYP19A1 PAPSS2	1588 9060	Homo sapiens (human)
DOID:0111822	CHILD syndrome Aliases: CHILD nevus congenital hemidysplasia with ichthyosiform nevus and limbs defects	NSDHL	50814	Homo sapiens (human)
DOID:0050760	X-linked myopathy with excessive autophagy Aliases: XMEA	GNE PYGM	10020 5837	Homo sapiens (human)
DOID:10952	nephritis	ABO ACACA ACACB ACE ACSL1 ACSL4 AGPAT2 AKR1B1 ALG1 ALOX12 ALOX15 ALOX5 ALPL ANXA5 APRT ARSA ART1 ATP6AP2 C1GALT1 C1GALT1C1 CALR CAT CD38 CD44 CD48 CD74 CDH13 CEL CHI3L1 CHIT1 CLC CNTN3 COLEC11 CTNS CYP19A1 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP3A5 DCN DDOST DGKE DLST ELOVL5 ENO1 ENO2 ENPP1 EPHX2 FADS2 FAR2 FCGR3B FCN2 FH FMOD G6PC1 G6PD GAD1 GAD2 GALNS GAPDH GAS1 GCK GFPT1 GLA GLO1 GPC5 GPX3 HAS2 HAS3 HPRT1 HPSE HSD11B2 HSPG2 ICAM1 IL1R1 INPP5D INPP5E KL LAYN LCAT LGALS1 LGALS3 LGALS9 LIPC LPIN2 LTC4S LYZ MASP1 MASP2 MBL2 MDH2 MLYCD NAGLU NAMPT NCAM1 NDST1 NEIL3 NEU1 OCRL OGA OGG1 PAFAH1B1 PARP1 PC PIK3CG PKD1 PKD2 PKM PLA2G1B PLA2G2A PLA2R1 PLAUR PLB1 PLCE1 PRKAA2 PTEN PTGDS PTGES PTGS1 PTGS2 RENBP RGN SACM1L SCD SDC1 SDC2 SDC4 SDHA SDHB SDHC SDHD SELE SELL SELP SFTPD SIGLEC1 SIGLEC7 SIRT6 SLC17A5 SLC2A2 SLC33A1 SLC37A4 SLC5A1 SMPDL3B SMUG1 SOAT1 SORD SPHK1 ST8SIA4 STS SULT1E1 TBXAS1 TM7SF2 TREH UGT2B17 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	1012 10135 10159 10555 1056 10724 10747 10855 1116 1118 11181 1178 142 143903 1462 1497 151056 1555 1557 1558 1559 1571 1573 1577 1588 1591 1594 1634 1636 1650 1743 2023 2026 2053 2180 2182 2215 2220 2262 2271 22908 22925 231 2331 23417 23583 239 240 246 249 2538 2539 2542 2571 2572 2588 2597 2619 2645 26503 2673 27036 2717 27293 2739 28 2878 29071 3037 3038 308 31 32 3251 3291 3339 3340 3383 353 3554 3635 3931 3956 3958 3965 3990 4056 4069 410 412 4153 417 4191 4669 4684 4758 4952 4968 5048 5067 5091 51196 51548 5167 5294 5310 5311 5315 5319 5320 5329 55247 5563 55711 56052 5648 56623 56913 5728 5730 5742 5743 5973 60481 6319 6382 6383 6385 6389 6390 6391 6392 6401 6402 6403 64131 64132 6441 6514 6523 6614 6646 6652 6783 6916 7108 7367 7369 7412 78989 7903 79679 811 847 8526 8877 9104 9197 9365 9415 952 9536 960 962 9663 972	Homo sapiens (human)
DOID:13757	excessive tearing Aliases: Epiphora Excessive tear production Watering eye	ARSD	414	Homo sapiens (human)
DOID:0060318	acute promyelocytic leukemia Aliases: acute myeloblastic leukaemia type 3 acute myeloblastic leukemia type 3 acute myeloid leukaemia M3 acute myeloid leukemia M3 acute promyelocytic leukaemia	ABO AGL AGPAT2 ALOX5 ANXA5 APRT ARSD ATP6AP2 CBR1 CD33 CD38 CD44 CEACAM7 CHST3 CYP2B6 EBP FH FUT1 FUT4 GFRA1 GLB1 HK3 HPRT1 HSPG2 ICAM1 IDH1 IDH2 IL18R1 KLRB1 KLRD1 LGALS12 LGALS1 LGALS3 NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PTEN PTGDS PTGS1 PTGS2 SDHD SMPD1 SOAT1 SRGN TNFRSF10C	10159 10555 10682 1087 1555 178 2271 240 2523 2526 2674 2720 28 308 3101 3251 3339 3383 3417 3418 353 3820 3824 3956 3958 414 4684 5290 5291 5293 5294 5552 57104 5728 5730 5742 5743 6392 6609 6646 85329 873 8794 8809 945 9469 952 960	Homo sapiens (human)
DOID:0070309	absence epilepsy	ALPI ALPP CACNA2D2 CANX PDIA3 PIGO PLCB4	248 250 2923 5332 821 84720 9254	Homo sapiens (human)
DOID:2568	cervicitis	LGALS3 MSLN	10232 3958	Homo sapiens (human)
DOID:0110348	osteogenesis imperfecta type 12 Aliases: OI12 osteogenesis imperfecta type XII	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:13452	scleritis	ACE TNF	1636 7124	Homo sapiens (human)
DOID:0110130	Bardet-Biedl syndrome 8 Aliases: BBS8	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:0080362	X-linked spondyloepiphyseal dysplasia tarda	ACAN CD38 CHST3 GLB1 HSPG2	176 2720 3339 9469 952	Homo sapiens (human)
DOID:0080171	esophageal atresia/tracheoesophageal fistula Aliases: esophageal atresia and/or tracheoesophageal fistula tracheoesophageal fistula with or without esohageal atresia	CEACAM5 CEACAM7	1048 1087	Homo sapiens (human)
DOID:62	aortic valve disease	ACAN ENPP1 KL NT5E PLA2G7 PLPP3 STS	176 412 4907 5167 7941 8613 9365	Homo sapiens (human)
DOID:0050474	Netherton syndrome	ACE GBA1 ICAM1 PTGS2	1636 2629 3383 5743	Homo sapiens (human)
DOID:0110800	hereditary spastic paraplegia 48 Aliases: SPG48 autosomal recessive spastic paraplegia 48 autosomal recessive spastic paraplegia type 48	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:0110231	cataract 1 multiple types Aliases: CTRCT1 Duffy linked cataract cataract 1, multiple types, with or without microcornea	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:5273	cutaneous leiomyosarcoma Aliases: leiomyosarcoma of the skin	FH	2271	Homo sapiens (human)
DOID:5299	endometrial clear cell adenocarcinoma Aliases: Clear cell carcinoma of Endometrium	GPC3	2719	Homo sapiens (human)
DOID:3742	bladder squamous cell carcinoma Aliases: Epidermoid carcinoma of the urinary bladder squamous cell carcinoma of bladder	PTEN	5728	Homo sapiens (human)
DOID:705	Leber hereditary optic neuropathy Aliases: Leber's hereditary optic neuropathy Leber's optic atrophy	ACE AKR1B1 CAT ENO2 GGT1 PGD TP53	1636 2026 231 2678 5226 7157 847	Homo sapiens (human)
DOID:12930	dilated cardiomyopathy Aliases: primary dilated cardiomyopathy	ABO ACACA ACADVL ACE ALDH7A1 ATP6AP2 BDH1 CAT CHI3L1 CHKB CPT1A CPT2 CS CYP11B2 CYP19A1 CYP1A1 CYP1A2 CYP2C19 CYP2E1 DAG1 DBT DOLK ECI1 ENO1 FADS2 FASN FKRP FKTN FUT3 GBE1 GLB1 GPX1 GPX3 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 HSD17B2 ICAM1 IDH1 IL18R1 IL1RL1 KL LDHA LEPR LGALS3 LPL LY75 MBL2 MDH1 MGAM MGAT1 MICA MMUT MPI MRC1 MTM1 NAMPT NCAM1 NDUFAB1 PCCA PCCB PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PLB1 PNPLA2 POMT2 PPARGC1A PRG2 PRKAA2 PTEN PTGS2 RBP4 RENBP SCD SDC1 SDC4 SDHA SDHB SDHD SLC2A10 SLC2A4 SLC35B2 SLC5A1 SMUG1 SRGN ST3GAL4 SULF2 SULT1E1 TM7SF2 TNF TP53 UGT8 VTCN1	100507436 10135 10159 10891 1116 1120 1374 1376 1431 148738 151056 1543 1544 1557 1571 1585 1588 1605 1629 1632 1636 2023 2194 2218 22845 23583 2525 2632 2720 28 2876 2878 29954 3030 3032 3033 31 3155 3251 3294 3383 3417 347734 37 3939 3953 3958 4023 4065 4153 4190 4245 4351 4360 4534 4594 4684 4706 501 5095 5096 5130 5236 5290 5291 5293 5294 5552 5553 5563 55959 57104 5728 5743 5950 5973 622 6319 6382 6385 6389 6390 6392 6484 6517 6523 6783 7108 7124 7157 7368 79147 7941 79679 81031 847 8809 8972 9173 9200 9365 9415	Homo sapiens (human)

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