GlyCosmos Portal

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

Displaying entries **8076 - 8100** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110806	hereditary spastic paraplegia 54 Aliases: SPG54 autosomal recessive spastic paraplegia 54 autosomal recessive spastic paraplegia type 54	DDHD1 SEC23IP	11196 80821	Homo sapiens (human)	Alliance of Genome Resources
DOID:14566	disease of cellular proliferation Aliases: cell process disease neoplasm	ATM FZR1 JAK1 JAK3 PLAUR SNRPB2 SPP1 TFPI TP53 TYK2	3716 3718 472 51343 5329 6629 6696 7035 7157 7297	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110346	osteogenesis imperfecta type 10 Aliases: OI10 osteogenesis imperfecta type X	SERPINH1	871	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110698	hypotrichosis 1 Aliases: Hhs Hts Hypt1 hereditary generalized hypotrichosis simplex	APCDD1 SNRPE	147495 6635	Homo sapiens (human)	Alliance of Genome Resources
DOID:1240	leukemia	ABO ACE ACSL6 AKR1C3 ALB ASH1L ATM BCR CD28 DAXX DOT1L FADD GPX1 HRAS IRF4 KRAS MEIS1 NRAS PDGFRA PTPN11 PTPN6 TFPI TP53	1616 1636 213 23305 28 2876 3265 3662 3845 4211 472 4893 5156 55870 5777 5781 613 7035 7157 84444 8644 8772 940	Homo sapiens (human)	Alliance of Genome Resources
DOID:11758	iron deficiency anemia	APP ATP7A C1QA FN1 GPX1 HFE HP IL6 IREB2 ITGA2 PON1 SLC11A2 SLC40A1 SLC4A1 TF TFRC TNF	2335 2876 30061 3077 3240 351 3569 3658 3673 4891 538 5444 6521 7018 7037 712 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110774	hereditary spastic paraplegia 23 Aliases: Lison syndrome SPG23 Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome spastic paraplegia 23 spastic paraplegia with pigmentary abnormalities	DSTYK	25778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110873	holoprosencephaly 9 Aliases: HPE9 holoprosencephaly with microphthalmia and first branchial arch anomalies pituitary anomalies with holoprosencephaly-like features	GLI2	2736	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080315	megalencephalic leukoencephalopathy with subcortical cysts Aliases: megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome vacuolating megalencephalic leukoencephalopathy with subcortical cysts	AQP4 GPRC5B HEPACAM	220296 361 51704	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060691	platelet-type bleeding disorder 16 Aliases: autosomal dominant Glanzmann thrombasthenia autosomal dominant thrombasthenia of Glanzmann and Naegeli	ITGA2B ITGB3	3674 3690	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110007	achromatopsia 2 Aliases: ACHM2 RMCH2 rod monochromacy 2 rod monochromatism 2	CNGA3	1261	Homo sapiens (human)	Alliance of Genome Resources
DOID:4371	Schnitzler syndrome	IL1A IL1RN	3552 3557	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060843	hereditary neuropathy with liability to pressure palsies Aliases: HNPP current pressure-sensitive neuropathy familial recurrent polyneuropathy heterozygous microdeletion 17p11.2p12 potato-grubbing palsy tomaculous neuropathy tulip-bulb digger's palsy	PMP22	5376	Homo sapiens (human)	Alliance of Genome Resources
DOID:332	amyotrophic lateral sclerosis Aliases: ALS Lou Gehrig's disease motor neuron disease, bulbar	APOE AQP4 ATP13A2 ATP13A3 ATP13A5 BPTF C3 C5AR1 C9orf72 CASP9 CCR2 CHMP2B DCTN1 DPP6 EIF2AK2 EPG5 EPO EWSR1 FUS GDNF GOT1 GRN GSK3A GSK3B HDAC4 HMGB1 IGF1R IGF2R ITIH4 ITPR2 KDR KEAP1 KIF1B LCN2 LRRK2 MAP4 MAPT MMP1 MMP2 MMP9 MSTN NEFH NEFL NEFM NFE2L2 NRG1 OPTN PGF PON2 PON3 PPARGC1A PSMC4 PSMC5 PTGS2 PTPRZ1 SARM1 SERPINF1 SLC11A2 SLC1A2 SOD1 SOD3 SQSTM1 TARDBP TFAM UBQLN1 UBQLN2 UBQLN3 UBQLN4 UNC13A VAPA VAPB VEGFA ZNF106	10133 10891 120892 1639 1804 203228 2056 2130 2186 23025 23095 23098 23400 23435 2521 25978 2660 2668 2805 2896 2931 2932 29978 29979 3084 3146 344905 348 3480 3482 361 3700 3709 3791 3934 4134 4137 4312 4313 4318 4741 4744 4747 4780 4891 50613 5176 5228 5445 5446 5610 56893 5704 5705 5743 57724 5803 64397 6506 6647 6649 7019 718 728 729230 7422 79572 842 8878 9217 9218 9759 9817	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081002	Cowden syndrome 6	AKT1	207	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110972	brachydactyly type E1 Aliases: BDE1	HOXD13	3239	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081003	Cowden syndrome 7	SEC23B	10483	Homo sapiens (human)	Alliance of Genome Resources
DOID:529	blepharospasm	DRD5	1816	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110710	hypotrichosis 13 Aliases: Hypt13 hypotrichosis with woolly hair	KRT71	112802	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070238	primary coenzyme Q10 deficiency 1 Aliases: COQ10D1 CoQ deficiency 1 CoQ10 deficiency, primary, 1 coenzyme Q deficiency 1 ubiquinone deficiency 1	COQ2	27235	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060762	restrictive dermopathy Aliases: Infantile restrictive dermopathy Lethal tight skin contracture syndrome hyperkeratosis-contracture syndrome lethal restrictive dermopathy tight skin contracture syndrome	FST	10468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080558	congenital disorder of glycosylation If Aliases: congenital disorder of glycosylation 1f	MPDU1	9526	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:2388	renal artery disease Aliases: renal vascular disease vascular disorder of kidney	EDN1	1906	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110662	congenital myasthenic syndrome 1B Aliases: CMS1B congenital myasthenic syndrome 1B, fast-channel	CHRNA1	1134	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050861	colorectal adenocarcinoma	ABCB1 BRD8 CA12 CD44 CYP24A1 CYP4F8 DOK3 ERBB3 ERCC6 EZH2 FAM151A FGFR2 FLT3 FOS GSK3B IL16 JUN JUNB KCNH1 KDR KMT2B MYD88 NCOA2 NOD2 PCSK4 RAF1 RICTOR RNASET2 RUNX1 SLC7A5 SMARCB1 STAT5B STRA6 TP53 TPST1 TYMS XRCC1 YME1L1	10499 10730 10902 11283 1591 2065 2074 2146 2263 2322 2353 253260 2932 338094 3603 3725 3726 3756 3791 4615 5243 54760 5894 64127 64220 6598 6777 7157 7298 7515 771 79930 8140 8460 861 8635 960 9757	Homo sapiens (human)	Alliance of Genome Resources

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