GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4726 - 4750** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:9428	intracranial hypertension Aliases: Raised intracranial pressure	AQP1 HTR5A KCNS1	3361 358 3787	Homo sapiens (human)	Alliance of Genome Resources
DOID:8252	chronic rhinitis Aliases: Rhinitis - chronic	EDN1	1906	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111061	familial hypobetalipoproteinemia 2 Aliases: FHBL2 combined familial hypolipidemia	ANGPTL3 APOB	27329 338	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111834	X-linked reticulate pigmentary disorder Aliases: Partington disease X-linked reticulate pigmentary disorder with systemic manifestations	POLA1	5422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070495	mitochondrial complex IV deficiency nuclear type 8 Aliases: MC4DN8	TACO1	51204	Homo sapiens (human)	Alliance of Genome Resources
DOID:2772	irritant dermatitis Aliases: irritant contact dermatitis primary irritant dermatitis	IL4	3565	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111110	maturity-onset diabetes of the young type 13 Aliases: MODY type 13 MODY13	KCNJ11	3767	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050387	nonpapillary renal cell carcinoma	FLCN	201163	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111007	X-linked cone-rod dystrophy 3 Aliases: CORDX3	CACNA1F	778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111899	X-linked thrombophilia due to factor IX defect Aliases: THPH8	F9	2158	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070187	Y-linked spermatogenic failure 2 Aliases: SPGFY2 nonobstructive Y-linked spermatogenic failure	USP9Y	8287	Homo sapiens (human)	Alliance of Genome Resources
DOID:3495	extrahepatic bile duct adenocarcinoma Aliases: adenocarcinoma of extrahepatic bile duct	BAP1 PBRM1 RAC1 SLC7A5	55193 5879 8140 8314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112115	combined oxidative phosphorylation deficiency 46 Aliases: COXPD46	MRPS23	51649	Homo sapiens (human)	Alliance of Genome Resources
DOID:1184	nephrotic syndrome	A2M ACAT1 ACE ALB ALOX5 APOA1 APOB APOC2 APOC3 APOE CD2AP CFI CFL1 COQ2 COQ6 CPB2 CTSL CTSV DGAT1 ECE1 EDNRA EPO FAT1 GAPVD1 GP1BA GPAM GPX1 GPX3 IGFALS IL1RN IL4 IL5 ITSN2 KCNJ1 KIRREL1 KIRREL2 KIRREL3 LIPC NOS1 NPHS1 NPHS2 NR3C1 PLA2G7 PLCE1 PPARGC1A PTGS2 SCNN1A SCNN1B SERPINC1 SGPL1 SH3KBP1 SOAT2 SOD2 STOM TFPI TNFRSF11B VLDLR	1072 10891 1361 1514 1515 1636 1889 1909 2 2040 2056 213 2195 23607 240 26130 27235 2811 2876 2878 2908 30011 335 338 3426 344 345 348 3483 3557 3565 3567 3758 38 3990 462 4842 4868 4982 50618 51004 51196 55243 5743 57678 6337 6338 6648 7035 7436 7827 7941 84063 8435 84623 8694 8879	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111345	transient bullous dermolysis of the newborn Aliases: DEB, bullous dermolysis of the newborn DEB-BDN	COL7A1	1294	Homo sapiens (human)	Alliance of Genome Resources
DOID:3125	multiple endocrine neoplasia Aliases: Multiple endocrine adenomatosis Multiple endocrine neoplasia syndrome	CDKN1B GHRL GHSR	1027 2693 51738	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060806	syndromic X-linked intellectual disability Hedera type Aliases: MRXE MRXSH X-linked mental retardation with epilepsy mental retardation, X-linked, syndromic, Hedera type	ARX ATP6AP2	10159 170302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081312	T-cell non-Hodgkin lymphoma	FGFR1 IER3 JAK3 KDM2B TMEM260 TP53	2260 3718 54916 7157 84678 8870	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070526	PLACK syndrome Aliases: peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	CAST	831	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112125	alpha-thalassemia myelodysplasia syndrome Aliases: ATMDS acquired HbH disease acquired hemoglobin H disease alpha-thalassemia-myelodysplastic syndrome	ATRX	546	Homo sapiens (human)	Alliance of Genome Resources
DOID:5453	pulmonary venoocclusive disease Aliases: pulmonary veno-occlusive disease	ATF4 EIF2AK2 EIF2AK3 KCNK3	3777 468 5610 9451	Homo sapiens (human)	Alliance of Genome Resources
DOID:12306	vitiligo	C4A CAT COMT CTLA4 ESR1 HGF HLA-DQA1 HLA-DQB1 HLA-DRB1 HSPA1A IFNG IL13 IL17A IL1A IL2 IL4 MBL2 NCSTN SOD2 TGFB1 TLR2 TLR4 TNF TYR	1312 1493 2099 23385 3082 3117 3119 3123 3303 3458 3552 3558 3565 3596 3605 4153 6648 7040 7097 7099 7124 720 7299 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110272	cataract 40 Aliases: CTRCT40 cataract 40 X-linked cataract 40 with or without microcornea	NHS	4810	Homo sapiens (human)	Alliance of Genome Resources
DOID:654	overnutrition	NOS3	4846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112262	leucine-sensitive hypoglycemia of infancy Aliases: LIH leucine-induced hypoglycemia	ABCC8	6833	Homo sapiens (human)	Alliance of Genome Resources

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