GlyCosmos Portal

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

Displaying entries **11851 - 11875** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110130	Bardet-Biedl syndrome 8 Aliases: BBS8	TTC8	123016	Homo sapiens (human)	Alliance of Genome Resources
DOID:12029	sympathetic ophthalmia Aliases: Sympathetic uveitis	HLA-DRB1	3123	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111588	Greenberg dysplasia Aliases: GRBGD Greenberg skeletal dysplasia HEM dysplasia Skeletal dysplasia, Greenberg type autosomal recessive lethal chondrodystrophy with congenital hydrops hydrops, ectopic calcification, moth-eaten skeletal dysplasia hydrops-ectopic calcification-motheaten syndrome	LBR	3930	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060197	amyotrophic lateral sclerosis type 5 Aliases: ALS5 amyotrophic lateral sclerosis 5	SPG11	80208	Homo sapiens (human)	Alliance of Genome Resources
DOID:8893	psoriasis	ADRB2 AGER ALB ALOX12 ANXA1 APOE C2 CADM2 CAST CAT CCR2 CCR5 CCR6 CD40 CFB CFH CFI CLU COMT CTLA4 CYP1A1 ELN EPAS1 FABP5 FCGR2A FLT1 GBA1 HIF1A HLA-DQA1 HLA-DQB1 ICAM1 IL10 IL13 IL13RA1 IL17A IL20 IL23R IL25 IL2 IL3 IL4 IRAK1 ITGB2 KDR LTA LTBR MBL2 MKI67 NAMPT RBP4 SOD2 SPINT1 SPTLC2 STAT3 STAT4 TAP1 TGFB1 TLR2 TLR4 TNF TNFRSF1A TNFRSF1B TTC7A VEGFA	10135 1191 1234 1235 1312 149233 1493 154 1543 177 2006 2034 213 2171 2212 2321 239 253559 2629 301 3075 3091 3117 3119 3383 3426 348 3558 3562 3565 3586 3596 3597 3605 3654 3689 3791 4049 4055 4153 4288 50604 57217 5950 629 64806 6648 6692 6774 6775 6890 7040 7097 7099 7124 7132 7133 717 729230 7422 831 847 9517 958	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:5151	plexiform neurofibroma	NF1	4763	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112141	retinitis pigmentosa 84 Aliases: RP84	DHX38	9785	Homo sapiens (human)	Alliance of Genome Resources
DOID:9637	stomatitis	CAT	847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080985	syndromic X-linked intellectual disorder Lujan-Fryns-type	MED12	9968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080055	achondrogenesis type IB Aliases: achondrogenesis Fraccaro type	SLC26A2	1836	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060308	autosomal recessive intellectual developmental disorder Aliases: autosomal recessive mental retardation autosomal recessive non-syndromic mental retardation	ASCC3 CNTNAP1 CNTNAP2 CNTNAP3 CNTNAP3B CNTNAP4 CNTNAP5 TPR ZC3H14	10973 129684 26047 7175 728577 79882 79937 8506 85445	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111464	combined oxidative phosphorylation deficiency 35 Aliases: COXPD35	TRIT1	54802	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060896	Parkinson's disease 23 Aliases: autosomal recessive early-onset Parkinson disease 23 autosomal recessive early-onset Parkinson's disease 23	VPS13A VPS13C	23230 54832	Homo sapiens (human)	Alliance of Genome Resources
DOID:13042	persistent fetal circulation syndrome Aliases: Fetal circulation Persistent fetal circulation Persistent foetal circulation congenital alveolar capillary dysplasia with misalignment of pulmonary veins persistent foetal circulation syndrome persistent pulmonary hypertension of the newborn	CPS1 ITGAM NOS3 PTEN	1373 3684 4846 5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111422	familial lipase maturation factor 1 deficiency Aliases: LPL and HL deficiency LPL and HTGL deficiency combined lipase deficiency familial LMF1 deficiency lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency	LMF1	64788	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050636	familial visceral amyloidosis Aliases: AMYLOIDOSIS, FAMILIAL RENAL German type amyloidosis OSTERTAG TYPE AMYLOIDOSIS systemic nonneuropathic amyloidosis	FGA	2243	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111558	Charcot-Marie-Tooth disease type 2DD Aliases: ATP1A1-related CMT2 ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2 CMT2DD Charcot-Marie-Tooth disease, axonal, type 2DD Charcot-Marie-Tooth neuropathy, type 2DD	ATP1A1 ATP1A2	476 477	Homo sapiens (human)	Alliance of Genome Resources
DOID:9368	keratoconjunctivitis	MUC16 MUC5AC TLR2	4586 7097 94025	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111182	familial hemiplegic migraine 2 Aliases: FHM2 Familial hemiplegic migraine-2 MHP2	ATP1A2	477	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050427	xeroderma pigmentosum	DDB1 POLH TERF2 XPC	1642 5429 7014 7508	Homo sapiens (human)	Alliance of Genome Resources
DOID:1596	depressive disorder Aliases: mental depression	ABAT ADRA2A AVPR1B BAX BDNF CAT CDK5 CHAT CHRM2 CHRNA3 CHRNB3 CHRNB4 CREB1 CRHBP CRHR1 CRHR2 CYP1A2 CYP2B6 CYP2C18 CYP2D7 CYP2E1 CYP3A5 DBH DRD1 DRD2 DRD5 FADD FOS FOSB GABRA5 GATA2 GDNF GPM6A GPM6B GPX1 GPX3 GSK3B HTR1A HTR2A HTR3B IL1RN IL6 IL6R JUN KMO L1CAM LINC02210-CRHR1 NCAM1 NEFL NGF NGFR NOS1 NPPC NPY1R NPY2R NR3C1 NTRK2 OPRK1 PANX1 PAWR PLA2G2A PLP1 PRL REN SLC5A7 SLC6A2 SLC6A4 SNCA SNCG TPH1 TREM1 XIRP2	1020 104909134 1103 1129 1136 1142 1143 129446 1385 1393 1394 1395 150 1544 1555 1562 1564 1571 1577 1621 18 1812 1813 1816 2353 2354 24145 2558 2624 2668 2823 2824 2876 2878 2908 2932 3350 3356 3557 3569 3570 3725 3897 4684 4747 4803 4804 4842 4880 4886 4887 4915 4986 5074 5320 5354 54210 553 5617 581 5972 60482 627 6530 6532 6622 6623 7166 847 8564 8772 9177	Homo sapiens (human)	Alliance of Genome Resources
DOID:9467	nail-patella syndrome Aliases: Fong disease Turner-Kiser syndrome hereditary onychoostedysplasia iliac horn syndrome nail patella syndrome	LDB1	8861	Homo sapiens (human)	Alliance of Genome Resources
DOID:9521	Laron syndrome Aliases: Laron-type isolated somatotropin defect	GHR	2690	Homo sapiens (human)	Alliance of Genome Resources
DOID:3144	cutis laxa Aliases: loose skin	ATP7A EFEMP1 EFEMP2 ELN FBLN5 LTBP1 LTBP4	10516 2006 2202 30008 4052 538 8425	Homo sapiens (human)	Alliance of Genome Resources

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