GlyCosmos Portal

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

Displaying entries **12301 - 12325** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:4189	mutism	CNTNAP2	26047	Homo sapiens (human)	Alliance of Genome Resources
DOID:13365	reading disorder	CNTNAP2	26047	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090130	cortical dysplasia-focal epilepsy syndrome Aliases: CDFE syndrome CDFES PTHSL1 Pitt-Hopkins-like syndrome-1	CNTNAP2	26047	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060488	Pitt-Hopkins syndrome	CNTNAP2 TCF12 TCF3 TCF4	26047 6925 6929 6938	Homo sapiens (human)	Alliance of Genome Resources
DOID:4186	articulation disorder Aliases: Articulation impairment Phonological disorder	CNTNAP2 FOXP2	26047 93986	Homo sapiens (human)	Alliance of Genome Resources
DOID:5602	T-cell adult acute lymphocytic leukemia Aliases: ATLL Acute Adult T-cell Leukemia-Lymphoma adult Precursor T Lymphoblastic Leukemia	CNTN2	6900	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111691	familial adult myoclonic epilepsy 5 Aliases: FAME5 FCMTE5 familial cortical myoclonic tremor and epilepsy 5	CNTN2	6900	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080101	Compton-North congenital myopathy Aliases: congenital myopathy 12	CNTN1	1272	Homo sapiens (human)	Alliance of Genome Resources
DOID:2234	focal epilepsy Aliases: localisation-related epilepsy partial epilepsy	CNR1 DEPDC5 MMP9	1268 4318 9681	Homo sapiens (human)	Alliance of Genome Resources
DOID:750	peptic ulcer disease Aliases: acute peptic ulcer with hemorrhage acute peptic ulcer with hemorrhage and perforation acute peptic ulcer without hemorrhage and without perforation	CNR1 CYP2C19 HLA-DRB1	1268 1557 3123	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080432	developmental and epileptic encephalopathy 60 Aliases: DEE60 early infantile epileptic encephalopathy 60	CNPY3	10695	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081397	Vissers-Bodmer syndrome	CNOT1	23019	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081398	holoprosencephaly 12 Aliases: holoprosencephaly-12 with or without pancreatic agenesis	CNOT1	23019	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111404	Jalili syndrome Aliases: Cone rod dystrophy-amelogenesis imperfecta syndrome cone-rod dystrophy and amelogenesis imperfecta	CNNM4	26504	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060884	renal hypomagnesemia 6 Aliases: HOMG6	CNNM2	54805	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080242	syndromic X-linked mental retardation Hough type	CNKSR2	22866	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110402	retinitis pigmentosa 45 Aliases: RP45	CNGB1	1258	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110007	achromatopsia 2 Aliases: ACHM2 RMCH2 rod monochromacy 2 rod monochromatism 2	CNGA3	1261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110377	retinitis pigmentosa 49 Aliases: RP49	CNGA1	1259	Homo sapiens (human)	Alliance of Genome Resources
DOID:9970	obesity	CNE1 DPL1 ECM14 EMI2 GCY1 GLK1 HFA1 HXK1 HXK2 IZH1 KEX2 NPP1 NPP2 PEP4 POX1 PUF3 RHO1 SEC16 SLA1 SRB8 SSN2 TDH1 TDH2 TDH3 TRM732 VVS1 YOL075C YPR1 ZWF1	850317 850391 850442 850614 850647 851241 851888 851974 852053 852102 852128 852276 852543 852639 852667 853106 853395 853465 854080 854287 855247 855301 855480 855483 855949 856020 856294 856533 856699	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0060307	autosomal dominant intellectual developmental disorder Aliases: autosomal dominant mental retardation autosomal dominant non-syndromic mental retardation	CMR2 GIS1 SSN2	851670 852053 854260	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:4930	nasal cavity adenocarcinoma Aliases: adenocarcinoma of the nasal cavity	CLU	1191	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060449	gelatinous drop-like corneal dystrophy Aliases: GDCD corneal amyloidosis primary familial amyloidosis of the cornea subepithelial amyloidosis of the cornea	CLU TACSTD2	1191 4070	Homo sapiens (human)	Alliance of Genome Resources
DOID:4251	conjunctival disease	CLU IL6 TNFAIP6	1191 3569 7130	Homo sapiens (human)	Alliance of Genome Resources
DOID:11656	cicatricial pemphigoid Aliases: Cicatricial pemphigoid with ocular involvement Ocular pemphigoid benign mucous membrane pemphigoid benign mucous membrane pemphigoid with ocular involvement ocular pemphigus	CLU HLA-DQB1 HLA-DRB1 IL1RN TNF	1191 3119 3123 3557 7124	Homo sapiens (human)	Alliance of Genome Resources

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