GlyCosmos Portal

Table Filtering

Disease ID

Disease Name

Gene Symbol

Gene ID

Organism

Source

Display
results per page.

Clear

Submissions

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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2976 - 3000** of **5716** in total

« First

‹ Prev

…

116

117

118

119

120

121

122

123

124

…

Next ›

Last »
Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0111130	focal segmental glomerulosclerosis 5 Aliases: FSGS5	INF2	64423	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111131	focal segmental glomerulosclerosis 6 Aliases: FSGS6	MYO1E	4643	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111132	focal segmental glomerulosclerosis 7 Aliases: FSGS7	PAX2	5076	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111133	focal segmental glomerulosclerosis 8 Aliases: FSGS8	ANLN	54443	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111134	focal segmental glomerulosclerosis 9 Aliases: FSGS9	CRB2	286204	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111135	congenital generalized lipodystrophy type 1 Aliases: Berardinelli-Seip Congenital Lipodystrophy, Type 1 Brunzell syndrome AGPAT2-related	AGPAT2	10555	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111136	congenital generalized lipodystrophy type 2 Aliases: Berardinelli-Seip congenital lipodystrophy type 2 Berardinelli-Seip syndrome Brunzell syndrome BSCL2-related CGL2 congenital lipoatrophic diabetes total lipodystrophy and acromegaloid gigantism	Bscl2 Pparg	14705 19016	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111136	congenital generalized lipodystrophy type 2 Aliases: Berardinelli-Seip congenital lipodystrophy type 2 Berardinelli-Seip syndrome Brunzell syndrome BSCL2-related CGL2 congenital lipoatrophic diabetes total lipodystrophy and acromegaloid gigantism	BSCL2	26580	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111138	congenital generalized lipodystrophy type 4 Aliases: Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy congenital generalised lipodystrophy type 4 generalised congenital lipodystrophy type 4 generalised congenital lipodystrophy with myopathy generalized congenital lipodystrophy type 4 generalized congenital lipodystrophy with myopathy	Cavin1	19285	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111138	congenital generalized lipodystrophy type 4 Aliases: Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy congenital generalised lipodystrophy type 4 generalised congenital lipodystrophy type 4 generalised congenital lipodystrophy with myopathy generalized congenital lipodystrophy type 4 generalized congenital lipodystrophy with myopathy	CAVIN1	284119	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111139	mitochondrial complex III deficiency	UQCRFS1	7386	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111140	IGSF1 deficiency syndrome Aliases: CHTE X-linked central congenital hypothyroidism with late-onset macroorchidism X-linked central congenital hypothyroidism with late-onset testicular enlargement central hypothyroidism and testicular enlargement	IGSF1	3547	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111140	IGSF1 deficiency syndrome Aliases: CHTE X-linked central congenital hypothyroidism with late-onset macroorchidism X-linked central congenital hypothyroidism with late-onset testicular enlargement central hypothyroidism and testicular enlargement	Igsf1	209268	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111141	delayed sleep phase syndrome Aliases: DSPD	CRY1	1407	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111144	preterm premature rupture of the membranes Aliases: PPROM	SERPINH1	871	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111149	autosomal recessive isolated ectopia lentis 2 Aliases: ECTOL2	Adamtsl4	229595	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111149	autosomal recessive isolated ectopia lentis 2 Aliases: ECTOL2	ADAMTSL4	54507	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111150	autosomal dominant isolated ectopia lentis 1 Aliases: ECTOL1	FBN1	2200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111153	congenital mirror movement disorder Aliases: familial congenital controlateral synkinesia familial congenital mirror movements hereditary congenital controlateral synkinesia hereditary congenital mirror movements isolated congenital controlateral synkinesia isolated congenital mirror movements	DCC NTN1	1630 9423	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111155	autosomal recessive spinocerebellar ataxia 21 Aliases: SCAR21 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome autosomal recessive spinocerebellar ataxia 21 with hepatopathy	SCYL1	57410	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111156	spermatogenic failure 9 Aliases: globozoospermia male infertility due to round-headed spermatozoa	DPY19L2	283417	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111158	SADDAN Aliases: SADDAN dysplasia severe achondroplasia with developmental delay and acanthosis nigricans	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111160	camptodactyly-tall stature-scoliosis-hearing loss syndrome Aliases: CATSHL syndrome	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111161	Crouzon syndrome-acanthosis nigricans syndrome Aliases: CAN Crouzon-dermoskeletal syndrome Crouzonodermoskeletal syndrome	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111162	epidermal nevus Aliases: nonepidermolytic keratinocytic nevus	FGFR3 HRAS NRAS PIK3CA	2261 3265 4893 5290	Homo sapiens (human)	Alliance of Genome Resources

Download data in CSV format Download data in TSV format Download data in JSON format

Table Filtering

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

International Collaboration

Acknowledgements