GlyCosmos Portal

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

Displaying entries **11576 - 11600** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0111551	neurogenic scapuloperoneal syndrome Kaeser type Aliases: Kaeser syndrome Stark-Kaeser syndrome scapuloperoneal syndrome type Kaeser scapuloperoneal syndrome, neurogenic, Kaeser type	DES	1674	Homo sapiens (human)	Alliance of Genome Resources
DOID:4552	large cell carcinoma	MET PRKCA STRAP	11171 4233 5578	Homo sapiens (human)	Alliance of Genome Resources
DOID:3614	Kallmann syndrome Aliases: Hypogonadism with anosmia Kallman syndrome Kallman's syndrome familial hypogonadism with anosmia	ANOS1	3730	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050578	occult macular dystrophy	RP1L1	94137	Homo sapiens (human)	Alliance of Genome Resources
DOID:4194	glucose metabolism disease Aliases: disorder of glucose metabolism	DGKA DGKB DGKG EIF2S3 GCK HK1 HK2 HK3 HKDC1 IGF1R INSR INSRR IRS1 IRS2 IRS4 KCNH6 PIK3CB PIK3CD RPS6KB1 TLR4 TLR5	1606 1607 1608 1968 2645 3098 3099 3101 3480 3643 3645 3667 5291 5293 6198 7099 7100 80201 81033 8471 8660	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070342	adult-onset type II citrullinemia Aliases: citrin deficiency	SLC25A13	10165	Homo sapiens (human)	Alliance of Genome Resources
DOID:2475	chronic conjunctivitis	FAS LAMP2	355 3920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111524	autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 Aliases: PEOB5 autosomal recessive progressive external ophthalmoplegia 5	TOP3A	7156	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070422	syndromic X-linked intellectual disability Pilorge type Aliases: MRXSP	GLRA2	2742	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070396	progressive leukoencephalopathy with ovarian failure	AARS2	57505	Homo sapiens (human)	Alliance of Genome Resources
DOID:5082	liver cirrhosis Aliases: Cirrhosis cirrhosis of liver	ABCB11 ABCB4 ACE ADAMTS13 ADAR ADIPOQ AGER AGT AKAP12 ALB APOA1 AZGP1 C5 CCL2 CCL5 CCN2 CCR1 CD163 CD36 CENPC CLDN1 CPEB1 CPEB4 CSF1R CYP3A4 CYP3A5 CYP3A7-CYP3A51P CYP3A7 DNMT1 DRD4 EDN1 EGFR EGR1 ELN ENTPD2 F2 F3 F5 FBN1 FGFR4 FLT1 FUBP1 GCLC GDF1 GGT1 GLI3 GLUL GOLM1 GP1BA GPC3 HFE HLA-DPA1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HP HRAS ICAM1 IFNA2 IFNG IGF1R IGF2 IL10 IL18BP IL21 IRF5 ITGB6 ITIH4 KDR KIR3DS1 KLKB1 KRT18 KRT8 LBP LGALS3 MBL2 MMP1 MMP2 MPO MUC2 MYC NFE2L2 NOS3 NPPB PARP1 PDGFB PDGFD PDIA3 PECAM1 PGF PHKG2 PIK3CG PLAUR PNPLA3 PTGS2 RAD50 RBP4 RELA RELN SERPINA1 SERPINE1 SERPINH1 SLC6A4 SMO SOD2 SPAG9 SPINT1 TFPI TGFB1 TGFB2 THPO TLR3 TLR4 TNF UTP4 VASH1 VCAM1 VEGFA VEGFC WDR35 XRCC1	10068 100861540 10111 103 1060 11093 1230 142 1436 1490 1551 1576 1577 1636 177 1786 1815 183 1906 1956 1958 2006 213 2147 2152 2153 2200 2264 22846 2321 2657 2678 2719 2729 2737 2752 2811 2923 3077 3113 3117 3119 3123 3240 3265 335 3383 3440 3458 3480 3481 3586 3663 3694 3700 3791 3813 3818 3856 3875 3929 3958 4153 4312 4313 4353 4583 4609 4780 4846 4879 5054 51280 5155 5175 5228 5244 5261 5265 5294 5329 563 5649 5743 57539 59067 5950 5970 6347 6352 64506 6532 6608 6648 6692 7035 7040 7042 7066 7098 7099 7124 727 7412 7422 7424 7515 80310 80315 80339 84916 8647 871 8880 9043 9076 9332 9370 948 954 9590	Homo sapiens (human)	Alliance of Genome Resources
DOID:9973	substance dependence	CREB1 FOSB	1385 2354	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081063	DICER1 syndrome Aliases: PPB familial tumor susceptibility syndrome Pleuro-pulmonary blastoma familial tumor susceptibility Pleuro-pulmonary blastoma familial tumor susceptibility syndrome Pleuropulmonary blastoma familial tumor susceptibility syndrome	DICER1	23405	Homo sapiens (human)	Alliance of Genome Resources
DOID:1727	retinal vein occlusion Aliases: Occlusion, of retinal vein	AQP1 AQP4 F2 F5 IL6 ITGA2 MMP2 NRP1 PON1 SERPINE1 SERPINF1 VEGFA VEGFB	2147 2153 3569 358 361 3673 4313 5054 5176 5444 7422 7423 8829	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080698	Teebi hypertelorism syndrome 1 Aliases: Opitz GBBB syndrome type II SPECC1L-related hypertelorism syndrome Teebi hypertelorism syndrome-1	SPECC1L	23384	Homo sapiens (human)	Alliance of Genome Resources
DOID:11030	corneal edema Aliases: Corneal oedema	IL1A	3552	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111566	familial isolated trichomegaly Aliases: TCMGLY long eyelashes	FGF5	2250	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110917	hereditary spherocytosis type 2 Aliases: HS2 SPH2 hereditary spherocytosis 2	SPTB	6710	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090083	hypogonadotropic hypogonadism 2 with or without anosmia	FGFR1	2260	Homo sapiens (human)	Alliance of Genome Resources
DOID:9253	gastrointestinal stromal tumor Aliases: GANT GIST Stromal tumor of gastrointestinal tract Stromal tumour of gastrointestinal tract gastrointestinal stromal tumour	BAG6 CSF1R KIT SDHA SDHB SDHC SETD2 SHH SLCO1B3 STIM1 TERT	1436 28234 29072 3815 6389 6390 6391 6469 6786 7015 7917	Homo sapiens (human)	Alliance of Genome Resources
DOID:2468	psychotic disorder Aliases: mental or behavioural disorder	MT2A NRG1	3084 4502	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070047	Schuurs-Hoeijmakers Syndrome Aliases: MRD17 SHMS autosomal dominant mental retardation 17	PACS1	55690	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070255	congenital disorder of glycosylation type IIc Aliases: CDG IIc CDG2C CDGIIc Rambam-Hasharon syndrome	GMDS SLC35C1	2762 55343	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110186	Charcot-Marie-Tooth disease type 4D Aliases: CMT4D Charcot-Marie-Tooth neuropathy type 4D HMSN Lom type HMSN-Lom HMSN4D HMSNL autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D hereditary motor and sensory neuropathy LOM type	NDRG1	10397	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060038	specific developmental disorder	BCL11A BCL11B FOXP1 FOXP2 FOXP4	116113 27086 53335 64919 93986	Homo sapiens (human)	Alliance of Genome Resources

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