GlyCosmos Portal

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

Displaying entries **3676 - 3700** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0080678	mucolipidosis III gamma	GNPTG	84572	Homo sapiens (human)	Alliance of Genome Resources
DOID:5593	gastric papillary adenocarcinoma Aliases: Papillary adenocarcinoma of stomach	GLI1 SMO	2735 6608	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110200	Charcot-Marie-Tooth disease dominant intermediate D Aliases: CMTDID Charcot-Marie-Tooth neuropathy dominant intermediate D DI-CMTD autosomal dominant intermediate Charcot-Marie-Tooth disease type D	MPZ	4359	Homo sapiens (human)	Alliance of Genome Resources
DOID:5812	MHC class II deficiency Aliases: BLSII SCID due to absent class II HLA antigens bare lymphocyte syndrome type II	CIITA	4261	Homo sapiens (human)	Alliance of Genome Resources
DOID:14451	hyperkalemic periodic paralysis Aliases: familial hyperkalemic periodic paralysis	SCN4A	6329	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111798	X-linked nephrolithiasis type I Aliases: NPHL1 X-linked nephrolithiasis with renal failure X-linked recessive urolithiasis type 1 XRN nephrolithiasis 1 nephrolithiasis X-linked recessive type 1	CLCN5	1184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110214	cleft soft palate Aliases: cleft velum cleft velum palatinum soft cleft palate	TGFBR2	7048	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070459	hereditary spastic paraplegia 90A Aliases: SPG90A autosomal dominant spastic paraplegia 90A	SPTSSA	171546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080202	adenoid cystic carcinoma	ATR KDM6A KMT2C NTRK3 SLC3A2 SLC7A5 TP53 XRN2	22803 4916 545 58508 6520 7157 7403 8140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112348	hereditary spastic paraplegia 78 Aliases: SPG78 spastic paraplegia 78 autosomal recessive	ATP13A2	23400	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111431	essential tremor 4 Aliases: ETM4 hereditary essential tremor 4	FUS	2521	Homo sapiens (human)	Alliance of Genome Resources
DOID:431	myofascial pain syndrome	NGF NTRK1	4803 4914	Homo sapiens (human)	Alliance of Genome Resources
DOID:2742	auditory system disease Aliases: ear and mastoid disease	FDXR MYO7A	2232 4647	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060398	chromosome 16p11.2 deletion syndrome, 220-kb Aliases: distal 16p11.2 microdeletion syndrome	SH2B1	25970	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060404	chromosome 17q12 deletion syndrome Aliases: 17q12 microdeletion syndrome	AATF ACACA ACACB DUSP14	11072 26574 31 32	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070247	autosomal dominant Emery-Dreifuss muscular dystrophy 2 Aliases: EDMD2 EMD2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy, autosomal dominant Hauptmann-Thannhauser muscular dystrophy autosomal dominant limb-girdle muscular dystrophy type 1B muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant scapuloilioperoneal atrophy with cardiopathy	LMNA LMNB1 LMNB2	4000 4001 84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:9869	hereditary fructose intolerance syndrome Aliases: Fructosaemia Fructose-1,6-bisphosphate aldolase B deficiency Fructosemia	ALDOB	229	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111077	pyruvate kinase deficiency of red cells Aliases: PK deficiency hemolytic anemia due to red cell pyruvate kinase deficiency pyruvate kinase deficiency of erythrocyte	PKLR	5313	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050214	Lambert-Eaton myasthenic syndrome Aliases: Eaton-Lambert syndrome LEMS Lambert-Eaton syndrome	CACNA1A CACNA1B CHRM1	1128 773 774	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060849	osteoporosis-pseudoglioma syndrome Aliases: OPPG ocular form of osteogenesis imperfecta	LRP5	4041	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090111	PCWH syndrome Aliases: Neurologic Waardenburg-Shah syndrome PCWH Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome	MPZ	4359	Homo sapiens (human)	Alliance of Genome Resources
DOID:2860	hemoglobinopathy Aliases: hemoglobinopathies	HBB	3043	Homo sapiens (human)	Alliance of Genome Resources
DOID:1574	alcohol use disorder Aliases: Ethanol abuse alcohol abuse	ACADS ACSS2 ACTL6A ADCY1 ADCYAP1R1 ADGRF3 ADH5 ADRA1A ADRA1B ADRA1D AKT1 AKT2 AKT3 ALDH2 ALYREF ANGPT1 ANGPT2 ANGPT4 ANGPTL3 ANGPTL4 ANGPTL6 ARID1A ARID2 ATF1 ATP1A1 ATP1A2 AUTS2 BDNF BRD7 CALB1 CAMK4 CAST CAT CDC5L CFL1 CHRNA1 CHRNA2 CHRNA3 CHRNA4 CHRNA6 CHRNB1 CHRNB2 CHRNB3 CHRND CHRNE CHRNG CIZ1 CLIC1 CLOCK CNR1 COMT CREB1 CREBBP CTSL CTSV CYP2E1 DBH DDX17 DRD1 DRD2 DRD3 DRD4 DRD5 EGFR EP300 EPS8 EPS8L2 ERBB2 ERBB3 ERBB4 FADS1 FADS2 FBRSL1 FMR1 FOS FOSB GABBR2 GABRA2 GABRB3 GAD1 GAD2 GDNF GHRHR GIPR GLP1R GPR21 GPR52 GRIA1 GRIN1 GRIN2B GRK1 GRK7 GSTO1 GSTO2 HDAC2 HOMER2 HTR1A HTR1B HTR2A HTR2C HTR3B HTR7 IGF2 IL10 JMJD1C KCNMA1 KCNU1 KDM3A KDM3B KDM4C KDM5B KDM6A KDM6B MADD MAOA MKI67 MLXIP MLXIPL MMP2 MMP9 NCAM1 NGF NOTCH1 NOTCH2 NOTCH3 NPY5R NR3C2 NRG1 NTF3 NTRK2 OPRD1 OPRK1 OPRL1 OPRM1 PBRM1 PCSK2 PDPK1 PIK3CB PIK3CD POMC PPP1R3B PPP1R3C PRKACB PRKCA PRKCH PRLHR PSD RAB3B RAC1 RAC2 RAC3 RASA1 RBPJ RPL18A RYR1 RYR2 RYR3 SHMT1 SHMT2 SIRT1 SLC32A1 SLC6A4 SMARCA2 SMARCA4 SMARCC1 SMARCC2 SMARCD1 SMARCD2 SOD1 SOX2 SREBF1 SREBF2 SRRM2 SSH2 ST6GAL1 STXBP1 STXBP2 SYP TIMELESS TPH1 UNC13A UNC13B UNC79 UTY VIPR1 VIPR2	10000 10189 10497 10521 107 1072 10765 1134 1135 1136 1137 1140 1141 1142 1144 1145 1146 117 1192 119391 1268 128 1312 131890 1385 1387 140679 146 147 148 1514 1515 1571 157855 1621 165082 1812 1813 1814 1815 1816 1956 196528 2033 2059 2064 2065 2066 207 208 217 221037 22877 23025 23081 23135 2332 23411 23524 2353 2354 2555 2562 2571 2572 25792 26053 2668 2692 2696 27329 2740 2834 284 2844 285 2890 2902 2904 29117 3066 3084 3350 3351 3356 3358 3363 3481 35 3516 3586 3778 3992 4128 4288 4306 4313 4318 466 4684 476 477 4803 4851 4853 4854 4889 4908 4915 4985 4986 4987 4988 51085 51129 5126 51378 5170 51780 5291 5293 5443 5507 55193 5567 5578 55818 5583 55902 5662 57578 57666 5865 5879 5880 5881 5921 6011 6142 6261 6262 6263 627 6470 6472 64787 6480 6532 6595 6597 6599 6601 6602 6603 6647 6657 6720 6721 6812 6813 6855 7166 7403 7404 7433 7434 793 79660 814 8289 831 83854 847 85464 8567 86 8914 8973 9177 9293 9415 9446 9455 9568 9575 988	Homo sapiens (human)	Alliance of Genome Resources
DOID:9976	heroin dependence	ABAT ABCB1 ACHE ADRA1A ALDH2 BCHE BDNF CHRM2 COMT CREB1 CYP2B6 CYP2C19 DRD1 DRD2 DRD3 DRD4 FAS FOSB GABBR1 GABRB3 GABRG2 GAD1 GAD2 GDNF GRIA1 GRIN2A GRM2 HTR3A NGF NPY1R OPRD1 OPRK1 OPRM1 POMC SLC6A3	1129 1312 1385 148 1555 1557 18 1812 1813 1814 1815 217 2354 2550 2562 2566 2571 2572 2668 2890 2903 2912 3359 355 43 4803 4886 4985 4986 4988 5243 5443 590 627 6531	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110815	hereditary spastic paraplegia 64 Aliases: SPG64 autosomal recessive spastic paraplegia 64 autosomal recessive spastic paraplegia type 64	ENTPD1	953	Homo sapiens (human)	Alliance of Genome Resources

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