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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 **351 - 375** of **4621** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism
DOID:2842	Jervell-Lange Nielsen syndrome Aliases: Jervell and Lange-Nielson syndrome	KCNQ1 NT5E	3784 4907	Homo sapiens (human)
DOID:0110980	Joubert syndrome 1 Aliases: CORS1 CPD4 JBTS1 cerebellooculorenal syndrome 1 cerebelloparenchymal disorder IV	GYS2 INPP5B INPP5E SYNJ1 SYNJ2	2998 3633 56623 8867 8871	Homo sapiens (human)
DOID:0050777	Joubert syndrome Aliases: JBTS	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN GYS2 HSPG2 INPP5B INPP5E LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS SYNJ1 SYNJ2 TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 2998 3339 3633 412 5048 50814 51227 523 55624 56623 6383 729920 79147 84197 84892 8867 8871 9091 9215 9896	Homo sapiens (human)
DOID:0060473	Kabuki syndrome Aliases: KMS Kabuki make up syndrome Niikawa-Kuroki syndrome	MACROD2	140733	Homo sapiens (human)
DOID:0050807	Kahrizi syndrome Aliases: KHRZ intellectual disability, Kahrizi type intellectual disability-cataract-coloboma-kyphosis syndrome	SRD5A3	79644	Homo sapiens (human)
DOID:3614	Kallmann syndrome Aliases: Hypogonadism with anosmia Kallman syndrome Kallman's syndrome familial hypogonadism with anosmia	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 ICAM1 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3383 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:0112319	Kanzaki disease Aliases: NAGA deficiency type 2 adult-onset alpha-N-acetylgalactosaminidase deficiency alpha-N-acetylgalactosaminidase deficiency type 2	NAGA	4668	Homo sapiens (human)
DOID:8632	Kaposi's sarcoma Aliases: Kaposi sarcoma Kaposi's sarcoma of Heart Kaposi's sarcoma of anus Kaposi's sarcoma of central nervous system Kaposi's sarcoma of conjunctiva Kaposi's sarcoma of cornea Kaposi's sarcoma of esophagus Kaposi's sarcoma of gastrointestinal sites Kaposi's sarcoma of lung Kaposi's sarcoma of lymph nodes Kaposi's sarcoma of palate Kaposi's sarcoma of penis Kaposi's sarcoma of skin Kaposi's sarcoma of soft tissue Kaposi's sarcoma of soft tissues Kaposi's sarcoma of the CNS Kaposi's sarcoma of the gallbladder Kaposi's sarcoma of the prostate Kaposi's sarcoma, lung Kaposi's sarcoma, skin anal Kaposi's sarcoma cardiac Kaposi's sarcoma central nervous system Kaposi's sarcoma conjunctival Kaposi's sarcoma corneal Kaposi's sarcoma cutaneous Kaposi's sarcoma esophageal Kaposi's sarcoma gallbladder Kaposi's sarcoma gastric Kaposi's sarcoma intestinal Kaposi's sarcoma lymph node Kaposi's sarcoma lymphadenopathic Kaposi's sarcoma palate Kaposi's sarcoma penis Kaposi's sarcoma prostate Kaposi's sarcoma pulmonary Kaposi's sarcoma soft tissue Kaposi's sarcoma	BCKDHB CD1D CERK DCN IGF2R KLRK1 LGALS1 LGALS3 MLYCD PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PTGS2 RENBP SDC1 SELE SEMA7A SIGLEC1 SIRT6 SPHK2 VCAM1	1634 22914 23417 3482 3956 3958 51548 5286 5290 5291 5293 5294 5335 56848 5743 594 5973 6382 6401 64781 6614 7412 8482 912	Homo sapiens (human)
DOID:0050144	Kartagener syndrome Aliases: Kartagener's syndrome	INPP5E MBL2 NTM	4153 50863 56623	Homo sapiens (human)
DOID:13378	Kawasaki disease Aliases: Kawasaki's disease MLNS acute febrile MCLS acute febrile mucocutaneous lymph node syndrome mucocutaneous lymph node syndrome	ABO ACE ACHE ADIPOQ AMACR ATP6AP2 CAT CD14 CD177 CD209 CEACAM5 CERS6 CHI3L1 CLEC6A CLEC7A CYP2C9 CYP2E1 FCER2 FCGR3B FCN1 FUT1 GAPDH GLB1 HSD11B2 ICAM1 IL1R1 IL1RAP ITPKC KLRC1 KLRK1 LDHA MBL2 MDGA1 NCAM1 OLR1 PGK1 PLA2G7 PLCB1 PLCB4 PTGS2 SDC1 SELE SELP SLC35F5 ST6GAL1 STS TLR4 TNF ULBP1 VCAM1	10159 1048 1116 1559 1571 1636 2208 2215 2219 22914 23236 23600 2523 253782 2597 266727 2720 28 30835 3291 3383 3554 3556 3821 3939 412 4153 43 4684 4973 5230 5332 57126 5743 6382 6401 6403 64581 6480 7099 7124 7412 7941 80255 80271 80329 847 929 9370 93978	Homo sapiens (human)
DOID:12934	Kearns-Sayre syndrome	MAG SGSH	4099 6448	Homo sapiens (human)
DOID:0060161	Kennedy's disease Aliases: Kennedy disease SBMA Spinobulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy X-linked Spinal and Bulbar Muscular Atrophy spinal bulbar muscular atrophy	CERS6 GAPDH GFRA1 LDHA PRNP	253782 2597 2674 3939 5621	Homo sapiens (human)
DOID:0050083	Keshan disease	ACE CYP1A1 CYP2C19 GAPDH GPX1 ICAM1 IDH2 PARP1	142 1543 1557 1636 2597 2876 3383 3418	Homo sapiens (human)
DOID:7365	Kimura disease Aliases: Kimura's disease	CD48 FUT4 LGALS9 MLYCD SMUG1	23417 23583 2526 3965 962	Homo sapiens (human)
DOID:4927	Klatskin's tumor Aliases: Klatskin tumor Klatskin tumour Klatskin's tumour Perihilar extrahepatic bile duct carcinoma hilar cholangiocarcinoma hilar cholangiocellular carcinoma	ARSA HK1 LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC2 SMUG1	23583 3098 3958 410 5290 5291 5293 5294 5315 6383	Homo sapiens (human)
DOID:13272	Klebsiella pneumonia Aliases: Pneumonia due to Klebsiella pneumoniae Pneumonia due to Klebsiella pneumoniae (disorder)	CD44 GPX1 MBL2	2876 4153 960	Homo sapiens (human)
DOID:0060165	Kleine-Levin syndrome	COMT SMUG1	1312 23583	Homo sapiens (human)
DOID:1921	Klinefelter syndrome Aliases: 47, XXY Hypogonadotropic Hypogonadism Klinefelter's syndrome XXY syndrome XXY trisomy	CYP19A1 EBP GK IL1RAPL1 PNPLA6 SOAT1 STS	10682 10908 11141 1588 2710 412 6646	Homo sapiens (human)
DOID:10426	Klippel-Feil syndrome Aliases: Klippel-Feil and Turner syndrome Klippel-Feil deformity, deafness and facial asymmetry autosomal dominant Klippel-Feil syndrome congenital dystrophia brevicollis congenital synostosis of cervical vertebrae	ACSS2 AGA B3GLCT CD38 COLEC10 COLEC11 EBP IDUA INPP5E LFNG MAN2B1 MASP1 PLA2G15	10584 10682 145173 175 23659 3425 3955 4125 55902 5648 56623 78989 952	Homo sapiens (human)
DOID:2926	Klippel-Trenaunay syndrome Aliases: Haemangiectatic hypertrophy Klippel-Trenaunay-Weber syndrome angioosteohypertrophy syndrome	ENOSF1 IL18R1 OGG1 PIK3CA	4968 5290 55556 8809	Homo sapiens (human)
DOID:2510	Kluver-Bucy syndrome Aliases: Klver-Bucy syndrome	NAGLU SGSH	4669 6448	Homo sapiens (human)
DOID:10587	Krabbe disease Aliases: Diffuse globoid body sclerosis GLOBOID CELL LEUKOENCEPHALOPATHY Galactosylceramide beta-galactosidase deficiency Krabbe's disease Krabbe's leukodystrophy beta galactocerebrosidase deficiency globoid cell leukodystrophy	ARSA ASAH1 CHIT1 DEGS1 EBP GALC GLB1 IDUA IGF2R PLA2G1B PLB1 PSAP	10682 1118 151056 2581 2720 3425 3482 410 427 5319 5660 8560	Homo sapiens (human)
DOID:9597	Krukenberg carcinoma Aliases: Krukenberg neoplasm	CD44 CEACAM5 CEACAM7 PGP	1048 1087 283871 960	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:10873	Kuhnt-Junius degeneration Aliases: Exudative senile macular degeneration of retina Neovascular age-related macular degeneration Senile macular degeneration, wet Wet senile macular retinal degeneration	ACE ANXA5 ARSF B3GLCT CALR CD93 CHI3L1 CYP21A2 ELOVL4 FUT6 GPX3 HPGDS LIPC MASP2 PLA2G12A PNPLA2 TLR2	10747 1116 145173 1589 1636 22918 2528 27306 2878 308 3990 416 57104 6785 7097 811 81579	Homo sapiens (human)

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