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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	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4226 - 4250** of **4649** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism	Source
DOID:0080045	Kniest dysplasia	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080592	Klippel-Feil syndrome 4	MYO18B	84700	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080591	Klippel-Feil syndrome 3	GDF3	9573	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080589	Klippel-Feil syndrome 1	GDF6	392255	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080597	Kleefstra syndrome	EHMT1	79813	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080598	Kleefstra syndrome 2	KMT2C KMT2D	58508 8085	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060352	Kleefstra syndrome 1 Aliases: 9q subtelomeric deletion syndrome 9q-syndrome 9q34 deletion syndrome	EHMT1 EHMT2	10919 79813	Homo sapiens (human)	Alliance of Genome Resources
DOID:4927	Klatskin's tumor Aliases: Klatskin tumor Klatskin tumour Klatskin's tumour Perihilar extrahepatic bile duct carcinoma hilar cholangiocarcinoma hilar cholangiocellular carcinoma	ARID1A KMT2C KRAS PREX2	3845 58508 80243 8289	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080990	King Denborough syndrome	RYR1	6261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050083	Keshan disease	CYP1A1 CYP2C19 GPX1	1543 1557 2876	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080722	Kenny-Caffey syndrome type 1	TBCE	6905	Homo sapiens (human)	Alliance of Genome Resources
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	AR GDNF	2668 367	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111842	Keipert syndrome Aliases: KPTS nasodigitoacoustic syndrome	GPC4	2239	Homo sapiens (human)	Alliance of Genome Resources
DOID:12934	Kearns-Sayre syndrome	TFAM	7019	Homo sapiens (human)	Alliance of Genome Resources
DOID:13378	Kawasaki disease Aliases: Kawasaki's disease MLNS acute febrile MCLS acute febrile mucocutaneous lymph node syndrome mucocutaneous lymph node syndrome	ADIPOQ AGER BTNL2 CCR2 CCR5 CD40 CD40LG CLU FLT1 HMGB1 HP HSPA1A HSPA1L MBL2 MMP9 NPPB SELP TIMP1 TLR4 TNF VEGFA	1191 1234 177 2321 3146 3240 3303 3305 4153 4318 4879 56244 6403 7076 7099 7124 729230 7422 9370 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050144	Kartagener syndrome Aliases: Kartagener's syndrome	CCDC39 DNAAF3 DNAH11 DNAH5 DRC1 MBL2 ODAD2 ODAD3 SLIT2	115948 1767 339829 352909 4153 55130 8701 92749 9353	Homo sapiens (human)	Alliance of Genome Resources
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	BPTF FGFR2 IL6	2186 2263 3569	Homo sapiens (human)	Alliance of Genome Resources
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)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:3614	Kallmann syndrome Aliases: Hypogonadism with anosmia Kallman syndrome Kallman's syndrome familial hypogonadism with anosmia	ANOS1	3730	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050807	Kahrizi syndrome Aliases: KHRZ intellectual disability, Kahrizi type intellectual disability-cataract-coloboma-kyphosis syndrome	SRD5A3	79644	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060473	Kabuki syndrome Aliases: KMS Kabuki make up syndrome Niikawa-Kuroki syndrome	KDM6A KMT2D UTY	7403 7404 8085	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112383	KINSSHIP syndrome Aliases: AFF3-related mesomelic dysplasia KINS Steichen-Gersdorf type mesomelic dysplasia	AFF3	3899	Homo sapiens (human)	Alliance of Genome Resources
DOID:14780	KBG syndrome	ANKRD11	29123	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050777	Joubert syndrome Aliases: JBTS	ARL3 CC2D2A IFT74 INPP5E	403 56623 57545 80173	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111004	Joubert syndrome 9 Aliases: JBTS9	CC2D2A	57545	Homo sapiens (human)	Alliance of Genome Resources

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