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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

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

Displaying entries **14601 - 14625** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0070154	hereditary sensory neuropathy type 1F Aliases: HSN1F hereditary sensory neuropathy type IF	Atl3	109168	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110147	Bartter disease type 5 Aliases: BARTS5 Bartter syndrome, type 5, antenatal, transient	MAGED2	10916	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050834	CHARGE syndrome Aliases: CHARGE association	Chd6 Chd8 Chd9 Sema3e Trp53	109151 20349 22059 67772 71389	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111663	ectodermal dysplasia 10A Aliases: ECTD10A ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	EDAR	10913	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111665	ectodermal dysplasia 10B Aliases: ECTD10B ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive	EDAR	10913	Homo sapiens (human)	Alliance of Genome Resources
DOID:14793	hypohidrotic ectodermal dysplasia	EDA EDAR	10913 1896	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111265	Boucher-Neuhauser syndrome Aliases: ataxia-hypogonadism-choroidal dystrophy syndrome	PNPLA6	10908	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110790	hereditary spastic paraplegia 39 Aliases: NTE-related motor neuron disorder NTEMND SPG39 autosomal recessive spastic paraplegia 39 autosomal recessive spastic paraplegia type 39 spastic paraplegia due to NTE mutation spastic paraplegia due to neuropathy target esterase mutation	PNPLA6	10908	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111271	Oliver-McFarlane syndrome Aliases: OMCS eyelashes long mental retardation long eyelashes-intellectual disability syndrome trichomegaly-retina pigmentary degeneration-dwarfism syndrome	PNPLA6	10908	Homo sapiens (human)	Alliance of Genome Resources
DOID:1930	Laurence-Moon syndrome Aliases: LNMS	PNPLA6	10908	Homo sapiens (human)	Alliance of Genome Resources
DOID:1432	blindness Aliases: vision impairment vision loss visual impairment	AQP4 ATP6V0E1 MYO15A PNPLA6 PNPLA7 RPL26 SLC7A14	10908 361 375775 51168 57709 6154 8992	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050753	cerebellar ataxia	AARS1 AARS2 CACNA1A GEMIN5 L2HGDH PNPLA6 PNPLA7 RPGRIP1L SYNE1 VPS13A VPS13C	10908 16 23230 23322 23345 25929 375775 54832 57505 773 79944	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080695	Burn-McKeown syndrome Aliases: Choanal atresia - deafness - cardiac defects - dysmorphism syndrome	TXNL4A	10907	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110612	primary ciliary dyskinesia 10 Aliases: CILD10 primary ciliary dyskinesia 10 with or without situs inversus	Dnaaf2	109065	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112254	hepatic venoocclusive disease with immunodeficiency Aliases: VODI hepatic veno-occlusive disease-immunodeficiency syndrome	Sp110	109032	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:399	tuberculosis	Btnl2 Ccl1 Cd209a Cd209b Cd209c Cd209d Cd274 Cxcl9 Cyp2c29 Ereg H2-Ab1 H2-D1 H2-Eb1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3 Ifng Ifngr1 Il22 Il22b Il27 Klrk1 Nfe2l2 Pdcd1 Slc11a1 Sp110 Spp1 Tlr1 Tlr2 Tlr6 Tnf Tnfrsf1b	109032 110557 116849 13095 13874 14961 14964 14969 14972 14990 15006 15007 15013 15015 15018 15043 15978 15979 170776 170779 170786 17329 18024 18173 18566 20290 20750 21897 21899 21926 21938 24088 246779 27007 50929 547431 60533 69165	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1470	major depressive disorder Aliases: clinical depression major depression recurrent major depression single major depressive episode unipolar depression	ADCY3 APOA1 APOA4 ARRB1 BDNF CHRM2 CHRNB3 CNTNAP2 CRTC1 CTNND2 EIF4B FOXP2 HSPA1A HSPA1L HTR1B HTR2A HTR2C IL10 IL3 IL5 IL6 MC1R MED12 NOS1 NR3C1 NRG1 NTRK2 PAWR PTEN SLC5A7 SLC6A4 SYN1	109 1129 1142 1501 1975 23373 26047 2908 3084 3303 3305 335 3351 3356 3358 337 3562 3567 3569 3586 408 4157 4842 4915 5074 5728 60482 627 6532 6853 93986 9968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060308	autosomal recessive intellectual developmental disorder Aliases: autosomal recessive mental retardation autosomal recessive non-syndromic mental retardation	Cntnap1 Cntnap2 Cntnap4 Cntnap5a Cntnap5b Cntnap5c Tpr Zc3h14	108989 170571 241175 53321 620292 636808 66797 75553	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111988	immunodeficiency 12 Aliases: IMD12 combined immunodeficiency due to MALT1 deficiency	MALT1	10892	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060060	non-Hodgkin lymphoma	ANXA7 ATR CD40 CD79B CTLA4 FCGR2A GPX1 ICAM1 IGF2R KMT2A MALT1 MTSS1 PON1 PRF1 S1PR2 TMEM260	10892 1493 2212 2876 310 3383 3482 4297 5444 545 54916 5551 9294 958 974 9788	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060058	lymphoma Aliases: lymphoid cancer	ATM CHD4 MALT1 PAFAH1B2 RELA	10892 1108 472 5049 5970	Homo sapiens (human)	Alliance of Genome Resources
DOID:1907	malignant fibrous histiocytoma Aliases: Fibroxanthosarcoma MFH	PPARGC1A	10891	Homo sapiens (human)	Alliance of Genome Resources
DOID:263	kidney cancer Aliases: malignant neoplasm of kidney except pelvis malignant tumour of kidney renal cancer	FGF9 HRAS KRAS LATS1 LATS2 LLGL1 LLGL2 NRAS POLE PPARGC1A SCRIB	10891 2254 23513 26524 3265 3845 3993 3996 4893 5426 9113	Homo sapiens (human)	Alliance of Genome Resources
DOID:10376	amblyopia Aliases: lazy eye	ERBB2 ERBB3 ERBB4 NRG1 PPARGC1A	10891 2064 2065 2066 3084	Homo sapiens (human)	Alliance of Genome Resources
DOID:11716	prediabetes syndrome Aliases: Prediabetes impaired glucose tolerance prediabetic state	AGT CALCA CCR2 GCG HLA-DRA IL6 KCNJ11 PPARGC1A PTPRN2 RELB SIRT3 SLC4A2 SLC4A8 UCP3	10891 183 23410 2641 3122 3569 3767 5799 5971 6522 729230 7352 796 9498	Homo sapiens (human)	Alliance of Genome Resources

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