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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 **8076 - 8100** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0050811	congenital adrenal hyperplasia Aliases: adrenal hyperplasia 1 congenital lipoid adrenal hyperplasia lipoid CAH	Ren	24715	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050430	multiple endocrine neoplasia type 2A Aliases: MEN2A Sipple syndrome multiple endocrine neoplasia II	Ret	24716	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10016	multiple endocrine neoplasia type 2B Aliases: MEN type IIB MEN2B Multiple endocrine neoplasia, type 3 Wagenmann-Froboese syndrome mucosal neuroma syndrome	Ret	24716	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080204	renal hypoplasia	Ret	24716	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:11105	fundus albipunctatus Aliases: Pigmentary retinal dystrophy retinitis punctata albescens	Prph2 Rho	24717 25534	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:8499	night blindness Aliases: nyctalopia	Rho	24717	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110862	congenital stationary night blindness autosomal dominant 1 Aliases: CSNBAD1 rhodopsin-related congenital stationary night blindness	Rho	24717	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060902	Norman-Roberts syndrome Aliases: lissencephaly 2 lissencephaly syndrome, Norman-Roberts type	Reln	24718	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060751	familial temporal lobe epilepsy 7 Aliases: ETL7	Reln	24718	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2797	idiopathic interstitial pneumonia Aliases: Diffuse idiopathic pulmonary fibrosis Idiopathic fibrosing alveolitis	ICAM1 IL6 KEAP1 MTOR	2475 3383 3569 9817	Homo sapiens (human)	Alliance of Genome Resources
DOID:8411	kidney angiomyolipoma Aliases: Angiomyolipoma of kidney renal Angiomyolipoma	MTOR	2475	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060170	generalized epilepsy with febrile seizures plus Aliases: GEFS+	Gabrg2 Scn10a Scn11a Scn1a Scn1b Scn2a Scn3a Scn4a Scn5a Scn8a Scn9a	24766 25665 25722 29571 29686 29701 29709 29710 497770 78956 81574	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080422	Dravet syndrome Aliases: DEE6 DEE6A developmental and epileptic encephalopathy 6 developmental and epileptic encephalopathy 6A early infantile epileptic encephalopathy 6 severe myoclonic epilepsy of infancy	Scn10a Scn11a Scn1a Scn2a Scn3a Scn4a Scn5a Scn8a Scn9a	24766 25665 25722 29571 29701 29710 497770 78956 81574	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111294	generalized epilepsy with febrile seizures plus 2 Aliases: GEFS+2 GEFSP2 generalised epilepsy with febrile seizures plus 2 generalised epilepsy with febrile seizures plus type 2 generalized epilepsy with febrile seizures plus type 2	Scn10a Scn11a Scn1a Scn2a Scn3a Scn4a Scn5a Scn8a Scn9a	24766 25665 25722 29571 29701 29710 497770 78956 81574	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081116	benign familial infantile seizures 3 Aliases: Benign Familial Infantile Seizures, 3 benign familial neonatal-infantile seizures	Scn2a	24766	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080421	developmental and epileptic encephalopathy 11 Aliases: DEE11 early infantile epileptic encephalopathy 11	Scn2a	24766	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14452	hypokalemic periodic paralysis Aliases: Hypokalemic familial periodic paralysis Periodic paralysis I Westphal disease familial hypokalemic periodic paralysis periodic hypokalemic paralysis	Cacna1s Kcne3 Scn4a Scnn1a Scnn1b Scnn1g	24767 24768 25122 25722 63883 682930	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050477	Liddle syndrome Aliases: Liddle's syndrome Pseudoaldosteronism	Scnn1a Scnn1b Scnn1g	24767 24768 25122	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060854	autosomal recessive pseudohypoaldosteronism type 1 Aliases: PHA1B autosomal recessive PHA 1	Scnn1b Scnn1g	24767 24768	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080528	bronchiectasis 3	Scnn1g	24768	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2920	membranoproliferative glomerulonephritis Aliases: Lobular glomerulonephritis chronic glomerulonephritis, lobular	Angpt2 Ccl2 Cdkn1b Cxcr1 Myoc Sparc Tgfbr2	24770 24791 54258 81523 81810 83571 89805	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4029	gastritis Aliases: Erosive Gastritis Erosive gastropathy acute gastric mucosal erosion	Cblif Ccl2 Ptgs2 Tnf	24770 24835 29319 29527	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:823	periapical periodontitis Aliases: Apical periodontitis	Ccl2 Ccl7 Cxcr2 Tnfrsf11b	24770 25341 287561 29385	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:13603	obstructive jaundice Aliases: Cholestatic Jaundice Cholestatic jaundice syndrome Obstructive hyperbilirubinemia	Ccl2 Cd14 Hmgb1 Pcna Ucp2	24770 25459 25737 54315 60350	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:811	lipodystrophy	Bscl2 Ccl2 Pparg	24770 25664 361722	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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