GlyCosmos Portal

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

Displaying entries **6626 - 6650** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0080988	pretibial dystrophic epidermolysis bullosa	COL7A1	1294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112368	Coffin-Siris syndrome 5 Aliases: CSS5	SMARCE1	6605	Homo sapiens (human)	Alliance of Genome Resources
DOID:11394	adult respiratory distress syndrome Aliases: ARDS Non-cardiogenic pulmonary edema Shock lung acute respiratory distress syndrome adult RDS	AGER AMBP C3 C3AR1 C5 C5AR1 EDN1 F3 HSPA4 ICAM1 IL10 IL15 IL1RN IL9 LEP LTA MBL2 MMP9 MUC1 MYLK NPPB PDPN PLA2G2A PLAU RAMP2 RIPK3 SERPINA3 SERPINE1 SFTPA1 SFTPB SFTPC SFTPD SOD2 TBXA2R THBD TNF TNFRSF1A TNFRSF1B	10266 10630 11035 12 177 1906 2152 259 3308 3383 3557 3578 3586 3600 3952 4049 4153 4318 4582 4638 4879 5054 5320 5328 6439 6440 6441 653509 6648 6915 7056 7124 7132 7133 718 719 727 728	Homo sapiens (human)	Alliance of Genome Resources
DOID:1498	cholera Aliases: Cholera - Vibrio cholerae Cholera due to Vibrio cholerae Vibrio cholerae	DUOX2	50506	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111866	trichothiodystrophy Aliases: TTD	AARS1 MARS1	16 4141	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060686	autosomal dominant nocturnal frontal lobe epilepsy 5 Aliases: ENFL5 nocturnal frontal lobe epilepsy 5	KCNT1	57582	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070164	spermatogenic failure 2 Aliases: SPGF2	MSH4	4438	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060038	specific developmental disorder	BCL11A BCL11B FOXP1 FOXP2 FOXP4	116113 27086 53335 64919 93986	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070280	primary autosomal recessive microcephaly 5 Aliases: MCPH5	ASPM	259266	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090115	spinocerebellar ataxia with axonal neuropathy 1 Aliases: SCAN1 autosomal recessive spinocerebellar ataxia with axonal neuropathy 1 spinocerebellar ataxia with axonal neuropathy type 1	TDP1	55775	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080290	familial erythrocytosis 5 Aliases: ECYT5	EPO	2056	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111813	syndactyly type 8 Aliases: fusion of metacarpals 4 and 5 metacarpal 4-5 fusion	FGF16	8823	Homo sapiens (human)	Alliance of Genome Resources
DOID:4138	bile duct disease Aliases: bile duct disorder disorder of bile duct	F3	2152	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:0112231	lissencephaly 7 with cerebellar hypoplasia Aliases: LIS7	CDK5	1020	Homo sapiens (human)	Alliance of Genome Resources
DOID:14115	toxic shock syndrome Aliases: TSS toxic shock	A2M ACE ADM ADRB2 CCKBR CCL2 CD274 ELANE ENO2 F2 HLA-DRA HLA-DRB1 HSPA1B IFNG IL10 IL19 IL1RN MBL2 MC2R MIF NOS2 NPPC PDCD1 PROC PTX3 REN SELL SERPINC1 SERPINE1 SERPINF1 SERPING1 SFTPB TBXA2R TFPI THPO TNF TREM1	133 154 1636 1991 2 2026 2147 29126 29949 3122 3123 3304 3458 3557 3586 4153 4158 4282 462 4843 4880 5054 5133 5176 54210 5624 5806 5972 6347 6402 6439 6915 7035 7066 710 7124 887	Homo sapiens (human)	Alliance of Genome Resources
DOID:10113	trypanosomiasis	A2M BCHE IL4	2 3565 590	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060710	autosomal recessive congenital ichthyosis 2 Aliases: ARCI2 BROCQ congenital ichthyosiform erythroderma nonbullous form NCIE1 nonbullous congenital ichthyosiform erythroderma 1	ALOX12B	242	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112145	retinitis pigmentosa 88 Aliases: RP88	RP1L1	94137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050817	Stargardt disease Aliases: STARGARDT DISEASE 1	ABCA4 ELOVL4	24 6785	Homo sapiens (human)	Alliance of Genome Resources
DOID:9409	diabetes insipidus	AQP2 AVP HAS2	3037 359 551	Homo sapiens (human)	Alliance of Genome Resources
DOID:3534	Lafora disease Aliases: Lafora Progressive Myoclonic Epilepsy Lafora's disease MYOCLONIC EPILEPSY OF LAFORA	EPM2A GYS1 GYS2 NHLRC1	2997 2998 378884 7957	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111234	congenital muscular dystrophy-dystroglycanopathy A7 Aliases: MDDGA7 Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7	CRPPA	729920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060010	Omenn syndrome Aliases: combined immunodeficiency with hypereosinophilia	DCLRE1C	64421	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110205	Charcot-Marie-Tooth disease dominant intermediate E Aliases: CMTDIE Charcot-Marie-Tooth disease-nephropathy syndrome Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis autosomal dominant intermediate Charcot-Marie-Tooth disease type E	INF2	64423	Homo sapiens (human)	Alliance of Genome Resources

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