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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 **7901 - 7925** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:7319	axonal neuropathy	Aars1	234734	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111582	hereditary arterial and articular multiple calcification syndrome Aliases: CALJA arterial calcification and distal joint calcification arterial calcification due to CD73 deficiency arterial calcification due to deficiency of CD73 calcification of joints and arteries	Nt5e Tnfrsf11b	18383 23959	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1824	status epilepticus Aliases: Grand mal status	ABAT ABCB1 ABCC2 ABCC8 ABCG2 ACAN ADAM10 ADAM9 ANK3 APEX1 APOD AQP1 AQP4 ATM BAX BDNF CASP6 CCL2 CCR5 CFL1 CKMT1A CKMT1B CNR1 CX3CL1 CYP11A1 DAB1 DMD DPYSL2 GABRB3 GHSR GRIA1 GRIA2 GRIK1 GRIN1 GRIN2A GRN GSK3B H2AX HCN1 HRH3 HSD11B1 HSPA1A IDH2 IL6ST KCNC4 KCNJ11 KCNK3 MEF2C MMP9 MTOR NLGN1 NLGN2 NR3C1 NT5E NTF3 OGG1 OLIG2 PGF PLAT PLAU PLAUR PTGS2 PTPRZ1 RELA RELN SLC6A8 SLC8A1 SLC8A2 SLC8A3 SOCS3 SOD2 SRC SSTR4 TFAM TNF XRN2	102 10215 1072 11255 1159 1234 1244 1268 1583 1600 1756 176 18 1808 22803 22871 2475 2562 2693 288 2890 2891 2896 2897 2902 2903 2908 2932 3014 328 3290 3303 3418 347 348980 3572 358 361 3749 3767 3777 4208 4318 472 4907 4908 4968 5228 5243 5327 5328 5329 548596 5649 5743 57555 5803 581 5970 627 6347 6376 6535 6543 6546 6547 6648 6714 6754 6833 7019 7124 839 8754 9021 9429	Homo sapiens (human)	Alliance of Genome Resources
DOID:5940	malignant peripheral nerve sheath tumor Aliases: malignant neoplasm of the peripheral nerve Sheath	TP53	7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:980	choroidal sclerosis Aliases: Choroidal degenerations	GUCY2D PRPH2	3000 5961	Homo sapiens (human)	Alliance of Genome Resources
DOID:4252	Alexander disease Aliases: Alexander's disease	GFAP	2670	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081345	congenital myopathy 10B	MEGF10	84466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070288	primary autosomal recessive microcephaly 17 Aliases: MCPH17	CIT	11113	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111805	syndromic microphthalmia 6 Aliases: Bakrania-Ragge syndrome MCOPS6 anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia microphthalmia and pituitary anomalies microphthalmia with brain and digit anomalies syndromic microphthalmia type 6	BMP4	652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111253	neurofibromatosis 1 Aliases: NF1 Peripheral Neurofibromatosis Recklinghausen's neurofibromatosis neurofibromatosis type I von Recklinghausen Disease	NF1 VEGFA	4763 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070514	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Aliases: NEDDFL	BPTF	2186	Homo sapiens (human)	Alliance of Genome Resources
DOID:13129	severe pre-eclampsia Aliases: Severe pre-eclampsia, with delivery antepartum severe pre-eclampsia postpartum severe pre-eclampsia severe preeclampsia	ACVR1 APEX1 COL4A2 ERAP1 ERAP2 GPX3 LNPEP RBP4	1284 2878 328 4012 51752 5950 64167 90	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050723	PSAT deficiency Aliases: Phosphoserine aminotransferase deficiency	PSAT1	29968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081344	congenital myopathy 9B	FXR1	8087	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060582	Noonan syndrome 4 Aliases: NS4	SOS1	6654	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112127	HRPT-related hyperuricemia Aliases: HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPRT1 partial deficiency Kelley-Seegmiller syndrome hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade I hypoxanthine guanine phosphoribosyltransferase partial deficiency	HPRT1	3251	Homo sapiens (human)	Alliance of Genome Resources
DOID:11726	Emery-Dreifuss muscular dystrophy Aliases: EDMD	EMD HOOK1 LEMD2 LEMD3 LMNA LMNB1 LMNB2 SYNE1 SYNE2	2010 221496 23224 23345 23592 4000 4001 51361 84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:12712	nephronophthisis Aliases: medullary cystic disease medullary cystic kidney	NPHP3 RPGRIP1L TMEM67 TTC21A	199223 23322 27031 91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:13560	subserous uterine fibroid Aliases: subserous leiomyoma of uterus	TNRC6B	23112	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111017	cone-rod dystrophy 10 Aliases: CORD10	SEMA4A	64218	Homo sapiens (human)	Alliance of Genome Resources
DOID:8761	acute megakaryocytic leukemia Aliases: Megakaryocytic myelosis Thrombocytic leukaemia	ABCG2 EZH2 JAK3 MRTFA SNCB	2146 3718 57591 6620 9429	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111547	retinal arterial tortuosity Aliases: RATOR retinal arteriolar tortuosity retinal hemorrhage with vascular tortuosity tortuosity of retinal arteries	COL4A1	1282	Homo sapiens (human)	Alliance of Genome Resources
DOID:252	alcoholic psychosis Aliases: Alcoholic psychoses	HTR2A	3356	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081209	autosomal recessive intellectual developmental disorder 45	FBXO31	79791	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111343	lateral meningocele syndrome Aliases: Lehman syndrome	NOTCH3	4854	Homo sapiens (human)	Alliance of Genome Resources

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