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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 **151 - 175** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
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:0060286	combined oxidative phosphorylation deficiency	MTO1 TEFM	25821 79736	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111403	mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations Aliases: MCCCHCM	MAST1	22983	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060854	autosomal recessive pseudohypoaldosteronism type 1 Aliases: PHA1B autosomal recessive PHA 1	SCNN1B SCNN1G	6338 6340	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111064	autosomal recessive distal hereditary motor neuronopathy 1 Aliases: DSMA1 SIANRF SMARD1 autosomal recessive distal spinal muscular atrophy 1 autosomal recessive spinal muscular atrophy with respiratory distress dHMN6 diaphragmatic spinal muscular atrophy distal hereditary motor neuropathy type 6 distal spinal muscular atrophy 1 distal-HMN type 6 severe infantile axonal neuropathy with respiratory failure type 1 spinal muscular atrophy with respiratory distress type 1	IGHMBP2	3508	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110212	Charcot-Marie-Tooth disease X-linked recessive 4 Aliases: CMT4X CMTX4 Charcot-Marie-Tooth disease with deafness and mental retardation Cowchock syndrome NADMR NAMSD X-linked Charcot-Marie-Tooth disease type 4 axonal motor sensory neuropathy with deafness and mental retardation	AIFM1	9131	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080245	Galloway-Mowat syndrome 3	OSGEP	55644	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111984	immunodeficiency 58 Aliases: IMD58 severe combined immunodeficiency due to CARMIL2 deficiency	CARMIL2	146206	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111365	benign familial hematuria Aliases: BFH TMN thin basement membrane nephropathy thin membrane nephropathy	COL4A3 COL4A4	1285 1286	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070277	primary autosomal recessive microcephaly 15 Aliases: MCPH15 NEDMISBA neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities	MFSD2A	84879	Homo sapiens (human)	Alliance of Genome Resources
DOID:3192	neurilemmoma Aliases: Psammomatous schwannoma schwannoma	ATAD5 KDR PECAM1 SERPINE1 SIX1 SNCA	3791 5054 5175 6495 6622 79915	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060832	Griscelli syndrome type 1 Aliases: GS1 Griscelli syndrome with neurological impairment Griscelli syndrome, cutaneous and neurological type Griscelli-Prunieras syndrome type 1 hypopigmentation-neurologic impairment syndrome	MYO5A	4644	Homo sapiens (human)	Alliance of Genome Resources
DOID:1584	acute chest syndrome Aliases: acute chest syndrome in sickle cell disease	HBB NOS3 VEGFA	3043 4846 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111371	isolated hyperchlorhidrosis Aliases: HYCHL carbonic anhydrase XII deficiency	CA12	771	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060821	syndromic X-linked intellectual disability 14 Aliases: mental retardation, X-linked, syndromic 14	UPF3B	65109	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111123	nephronophthisis 15 Aliases: NPHP15	CEP164	22897	Homo sapiens (human)	Alliance of Genome Resources
DOID:3770	pulmonary fibrosis Aliases: Fibrosis of lung	ACE AGER AGT ALOX5 ANXA1 AP3B1 B3GAT1 BAD BDKRB1 BDNF CAT CCL11 CCL2 CCN2 CCR4 CCR5 CD36 CDH1 CHI3L1 CHRM3 COL1A1 COL1A2 CSF2 CYSLTR1 DEFB1 DNM1L EDN1 EGFR EGR1 ELANE HABP2 HGF HSP90AB1 HSPD1 ICAM1 IGFBP3 IGFBP5 IL13 IL15 IL17A IL18R1 IL1A IL1RN IL4 JAG1 MBL2 MMP1 MMP9 MUC5AC NFE2L2 NGF NOTCH1 PDGFRA PLAU PTGS2 SERPINE1 SFTPA1 SFTPB SFTPC SMAD4 STAT1 TFPI TGFB1 TGFBR2 TIMP1 TLR9 TNF TWIST1 VWF	10059 10800 1116 1131 1233 1234 1277 1278 1437 1490 1636 1672 177 182 183 1906 1956 1958 1991 240 27087 301 3026 3082 3326 3329 3383 3486 3488 3552 3557 3565 3596 3600 3605 4089 4153 4312 4318 4586 4780 4803 4851 5054 5156 5328 54106 572 5743 623 627 6347 6356 6439 6440 653509 6772 7035 7040 7048 7076 7124 7291 7450 847 8546 8809 948 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070096	oculocutaneous albinism type II Aliases: OCA2 Oculocutaneous Albinism, Tyrosinase-Positive	MC1R OCA2	4157 4948	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:8704	genital herpes Aliases: Genital herpes simplex Herpes Genitalis Virus-Genital Herpes venereal herpes	IL3 STAT4	3562 6775	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081354	congenital myopathy 22A	SCN4A	6329	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050471	Carney complex Aliases: Carney Complex, Type 1 Carney Complex, Type 2 Carney Syndrome Carney complex variant LAMB Syndrome NAME Syndrome	PRKAR1A	5573	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081218	autosomal recessive intellectual developmental disorder 74	APC2	10297	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111756	Leber hereditary optic neuropathy with demyelinating disease of CNS	MECR	51102	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060447	epithelial basement membrane dystrophy Aliases: Cogan corneal dystrophy EBMD microcystic corneal dystrophy	TGFBI	7045	Homo sapiens (human)	Alliance of Genome Resources

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