GlyCosmos Portal

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

Displaying entries **4551 - 4575** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0050573	2-hydroxyglutaric aciduria	L2HGDH	79944	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050572	cone-rod dystrophy Aliases: cone-rod retinal dystrophy	CRB1 EYS	23418 346007	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050570	congenital disorder of glycosylation type I	ALG12 ALG1 ALG1L2 ALG5 ALG6 ALG8 ALG9 DOLK DPM1 DPM3 MPI PMM1 PMM2 RFT1 SRD5A3	22845 29880 29929 4351 5372 5373 54344 56052 644974 79053 79087 79644 79796 8813 91869	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050569	Seckel syndrome Aliases: Harper's syndrome Virchow-Seckel dwarfism bird-headed dwarfism microcephalic primordial dwarfism	ATR ATRIP CDK5RAP2	545 55755 84126	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050567	orofacial cleft	ACSS2 CRISPLD2 LOXHD1 MYH9 SPECC1L	125336 23384 4627 55902 83716	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050566	X-linked nonsyndromic deafness Aliases: X-linked deafness	PRPSAP1	5635	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050565	autosomal recessive nonsyndromic deafness	CDH23 CLRN2 GPR156 MINAR2 PKHD1L1 TMTC4	100127206 165829 64072 645104 84899 93035	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050564	autosomal dominant nonsyndromic deafness Aliases: autosomal dominant deafness	COL11A1 EPHA10 GREB1L GRHL2 MAP1B PI4KB THOC1 TRRAP USP48	1301 284656 4131 5298 79977 80000 8295 84196 9984	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050563	nonsyndromic deafness Aliases: nonsyndromic hearing loss nonsyndromic hereditary hearing loss	ALG10 ALG10B DYNC2H1 KLC2 LRP5 MTO1 PPIP5K2 USH2A WFS1	144245 23262 25821 4041 64837 7399 7466 79659 84920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050562	West syndrome	ABAT CFL1 MC2R STXBP1	1072 18 4158 6812	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050561	Lennox-Gastaut syndrome Aliases: Lennox syndrome	DGKD	8527	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050558	Ullrich congenital muscular dystrophy Aliases: ULLRICH DISEASE Ullrich scleroatonic muscular dystrophy	COL6A1 COL6A3	1291 1293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050557	congenital muscular dystrophy	COL6A1 COL6A3 DYNC1H1 LMNA LMNB1 LMNB2	1291 1293 1778 4000 4001 84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050554	X-linked sideroblastic anemia with ataxia Aliases: Anemia sideroblastic and spinocerebellar ataxia Anemia, sideroblastic, spinocerebellar ataxia X-linked sideroblastic anaemia and ataxia X-linked sideroblastic anaemia with ataxia X-linked sideroblastic anemia and ataxia	ABCB7	22	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050548	hereditary sensory neuropathy Aliases: familial dysautonomia, type II hereditary sensory and autonomic neuropathy	CCT4 DNMT1 DST NTRK1 SCN11A SPTLC1 WNK1	10558 10575 11280 1786 4914 65125 667	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050547	familial medullary thyroid carcinoma Aliases: THYROID CARCINOMA, FAMILIAL MEDULLARY	PRLR RET	5618 5979	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050546	congenital adrenal insufficiency Aliases: ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE Adrenal insufficiency, congenital, with 46,XY sex reversal P450scc DEFICIENCY	CYP11A1	1583	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050545	visceral heterotaxy Aliases: heterotaxia situs ambiguus	ACVR2B BICC1 CC2D1A CC2D2A CCDC39 CFAP53 CFC1 CFC1B DNAAF3 DNAH11 DNAH5 DRC1 FOXH1 GDF1 IFT74 MEGF8 MMP21 NODAL ODAD2 OSBPL1A PCSK5 PHKA2 PKD1L1 PSME4 SLIT2 TBC1D32 TMEM67	114876 118856 168507 1767 1954 220136 221322 23198 2657 339829 352909 4838 5125 5256 54862 55130 55997 57545 653275 80114 80173 8701 8928 91147 92749 93 9353	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050540	Charcot-Marie-Tooth disease type 3 Aliases: DEJERINE-SOTTAS NEUROPATHY DEJERINE-SOTTAS SYNDROME	EGR2 MPZ PMP22	1959 4359 5376	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050539	Charcot-Marie-Tooth disease type 2 Aliases: hereditary motor and sensory neuropathy Guadalajara neuronal type hereditary motor and sensory neuropathy Okinawa type hereditary motor and sensory neuropathy type 2	RAB7A	7879	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050535	exudative vitreoretinopathy Aliases: FEVR familial exudative vitreoretinopathy	CDH5 CTNNB1 FZD4 LRP5	1003 1499 4041 8322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050534	congenital stationary night blindness Aliases: congenital essential nyctalopia	CACNA1F GUCY2D NYX TRPM1	3000 4308 60506 778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050524	maturity-onset diabetes of the young Aliases: MODY Mason-type diabetes	GCK HK2 HK3 HKDC1 HNF1A INS MAFA PDX1 TGM2	2645 3099 3101 3630 3651 389692 6927 7052 80201	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050523	adult T-cell leukemia/lymphoma Aliases: Adult T-cell leukemia/lymphoma (HTLV-1 positive) adult T-cell leukemia	CD163 CD274 CD68 CD80 CD86 FAS IL10 IL5 IL6 JAK3 NOTCH1	29126 355 3567 3569 3586 3718 4851 9332 941 942 968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050489	multinodular goiter	DICER1	23405	Homo sapiens (human)	Alliance of Genome Resources

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