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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 **11101 - 11125** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0111287	psoriasis 13 Aliases: PSORS13	TRAF3IP2	10758	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081272	Sandestig-Stefanova syndrome	NUP188	23511	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080227	autosomal dominant intellectual developmental disorder 55 Aliases: autosomal dominant intellectual developmental disorder-55 with seizures autosomal dominant mental retardation 55	NUS1	116150	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090032	Silverman-Handmaker type dyssegmental dysplasia	HSPG2	3339	Homo sapiens (human)	Alliance of Genome Resources
DOID:5409	lung small cell carcinoma	ACVR1B APOA1 APOC3 ATM ATRX CDKN1B CHRNA3 CHRNA5 CHRNA9 CHRNB4 CSF1R CYP24A1 DLL4 E2F1 EEF2 FAT1 FOXA1 GRP ITGB1 KDM6A KMT2D LAMA3 LAMB3 LAMC2 MTOR NOTCH1 PBRM1 PTK2 RARB RICTOR SKP2 XPO5	1027 1136 1138 1143 1436 1591 1869 1938 2195 2475 253260 2922 3169 335 345 3688 3909 3914 3918 472 4851 54567 546 55193 55584 5747 57510 5915 6502 7403 8085 91	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080081	nonsyndromic congenital nail disorder 3	PLCD1	5333	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060438	Cole-Carpenter syndrome	P4HB SEC24D	5034 9871	Homo sapiens (human)	Alliance of Genome Resources
DOID:4448	macular degeneration Aliases: Macular degeneration of retina	ABCA4 APOE BAD BAX BMP4 C2 C3 CCL2 CCR2 CD36 CDKN1B CFB CFH CFI CRYAB EFEMP1 ELN ERCC6 ESR1 FAS HSPA8 IL17A KDR MMP2 MMP9 NFE2L2 PON1 PPARGC1A PRPH2 SERPINE1 SERPINF1 SERPING1 SIRT1 SOD1 SRSF10 TLR4 TRA2B	1027 10772 10891 1410 2006 2074 2099 2202 23411 24 3075 3312 3426 348 355 3605 3791 4313 4318 4780 5054 5176 5444 572 581 5961 629 6347 6434 652 6647 7099 710 717 718 729230 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090015	Cenani-Lenz syndactyly syndrome Aliases: syndactyly type 7	LRP4	4038	Homo sapiens (human)	Alliance of Genome Resources
DOID:4674	androgen insensitivity syndrome Aliases: Androgen resistance syndrome Androgen-Insensitivity Syndrome Feminisation - testicular Goldberg - Maxwell syndrome Goldberg-Maxwell syndrome testicular Feminization syndrome testicular feminization	AR FKBP4 KAT7	11143 2288 367	Homo sapiens (human)	Alliance of Genome Resources
DOID:93	language disorder	FOXP2	93986	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081352	congenital myopathy 20	RYR3	6263	Homo sapiens (human)	Alliance of Genome Resources
DOID:3633	beta-mannosidosis Aliases: Beta-D-mannosidosis beta-mannosidase deficiency lysosomal beta-mannosidase deficiency	MANBA	4126	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:12148	alveolar echinococcosis Aliases: Multilocular hydatid alveolococcosis small fox tapeworm	HLA-DQB1 HLA-DRB1 TLR2	3119 3123 7097	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060810	syndromic X-linked intellectual disability type 10 Aliases: HSD10 deficiency, atypical type HSD10 disease, atypical type MRXS10 X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome mental retardation, X-linked syndromic 10	HSD17B10	3028	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080743	transverse myelitis	AQP4 IL6	3569 361	Homo sapiens (human)	Alliance of Genome Resources
DOID:4398	pustulosis of palm and sole Aliases: Acropustulosis Palmoplantar Pustulosis Pustular psoriasis of the palms and/or soles	LTA TNF	4049 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110026	age related macular degeneration 14 Aliases: ARMD14	C2 CFB	629 717	Homo sapiens (human)	Alliance of Genome Resources
DOID:11383	cryptorchidism Aliases: Cryptorchism Undescended testicle Undescended testis undescended testicles	ADAMTS16 ANXA5 AR ESR1 FAS GFER HOXD13 HSF1 IGF1R NGF RXFP2 STS SYNE2	122042 170690 2099 23224 2671 308 3239 3297 3480 355 367 412 4803	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090012	severe combined immunodeficiency with sensitivity to ionizing radiation Aliases: SCID due to DCLRE1C deficiency SCID due to artemis deficiency SCID, Athabascan type SCID, Athabaskan type Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency due to artemis deficiency Severe combined immunodeficiency, Athabascan type Severe combined immunodeficiency, Athabaskan type artemis deficiency	DCLRE1C	64421	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110965	brachydactyly type A2 Aliases: BDA2 Mohr-Wriedt type brachydactyly brachymesophalangy II	BMP2 BMPR1B CDK7 GDF5	1022 650 658 8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:1229	paranoid schizophrenia Aliases: Paranoid type schizophrenia Paraphrenia - late Paraphrenic schizophrenia chronic paranoid schizophrenia paranoid type schizophrenia subchronic state	HSPA1A KCNN3	3303 3782	Homo sapiens (human)	Alliance of Genome Resources
DOID:8924	autoimmune thrombocytopenic purpura Aliases: Immune thrombocytopenic purpura idiopathic thrombocytopenic purpura primary thrombocytopenic purpura	ALB CD40 CD40LG CD86 FAS FCGR2A FCGR2B FCGR3A HLA-DQB1 HLA-DRB1 IL10 IL1A IL1RN IL2 IL4 ITGB3 PLAT TGFB1	213 2212 2213 2214 3119 3123 355 3552 3557 3558 3565 3586 3690 5327 7040 942 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:2752	glycogen storage disease II Aliases: Generalized glycogenosis Glycogen storage disease 2 Glycogen storage disease, type II Glycogenosis, type 2 Lysosomal alpha-1,4-glucosidase deficiency Pompe's disease acid maltase deficiency deficiency of glucoamylase deficiency of maltase glycogen storage disease type II	GAA	2548	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070304	multiple epiphyseal dysplasia 3 Aliases: EDM3 multiple epiphyseal dysplasia 3 with or without myopathy	COL9A3	1299	Homo sapiens (human)	Alliance of Genome Resources

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