All diseases

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20 entries on 1 page. Showing entries 1 - 20.

ID	Abbreviation	Name	OMIM ID	Individuals	Phenotypes	Associated with genes	Associated tissues	Disease features
00423	-	cancer, endometrial	608089	202	169	CDH1, MLH3, MSH3, MSH6, PTEN	-	-
00683	-	cancer, breast, familial	114480	8011	749	AKT1, ATM, BARD1, BRCA1, BRCA2, BRIP1, CASP8, CDH1, CHEK2, ESR1, HMMR, KRAS, NQO2, PALB2, PHB, PIK3CA, PPM1D, RAD51, RAD54L, RB1CC1, 4 more	-	-
05303	BCDS	syndrome, blepharocheilodontic (BCDS)	-	36	36	CDH1, CTNND1	-	-
05638	BCDS-1	syndrome, blepharocheilodontic, type 1 (BCDS-1)	119580	0	0	CDH1	-	lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, conical teeth and (rare) imperforate anus
00424	cancer, ovarian	cancer, ovarian	167000	215	150	AKT1, CDH1, CTNNB1, OPCML, PARK2, PIK3CA	-	-
01524	cancer, prostate	cancer, prostate	176807	200	196	AR, BRCA2, CD82, CDH1, CHEK2, HIP1, KLF6, MAD1L1, MSR1, MXI1, PTEN, ZFHX3	-	-
04254	CLP	cleft lip, cleft palate (CLP)	-	61	30	CDH1	-	-
05458	DFN	deafness, nonsyndromic (DFN)	-	42	42	CDH23, CEACAM16, MYO15A, MYO6, MYO7A, OTOF, PCDH15, TECTA, TMC1, USH1C	-	-
05400	DFNB	deafness, autosomal recessive (DFNB)	-	869	869	CDH23, MYO15A, MYO7A, OTOF, PCDH15, STRC, TMC1, USH1C	-	autosomal recessive
02858	DFNB-23	deafness, autosomal recessive, type 23 (DFNB-23)	609533	1	1	PCDH15	-	-
04252	DGC	cancer, gastric, diffuse (DGC)	-	0	0	CDH1	-	-
02142	EIEE-9	encephalopathy, epileptic, early infantile, type 9 (EIEE-9)	300088	42	8	PCDH19	-	early infantile epileptic encephalopathy, also known as epilepsy and mental retardation restricted to females (EFMR)
04251	EODGC	cancer, gastric, diffuse, early onset (EODGC)	-	0	0	CDH1	-	-
00334	HDGC	cancer, gastric, hereditary diffuse (HDGC)	137215	67	67	CDH1, IL1B, IL1RN, KRAS, MUTYH	-	-
00139	ID	intellectual disability (ID)	-	902	791	AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 518 more	-	-
04253	LBC	cancer, breast, lobular (LBC)	-	0	0	CDH1	-	-
01110	MRD-3	mental retardation, autosomal dominant, type 3 (MRD-3)	612580	0	0	CDH15	-	-
05415	USH	Usher syndrome (USH)	-	84	84	CDH23, CLRN1, GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A	-	-
02115	USH-1	Usher syndrome, type 1 (USH-1)	-	642	642	CDH23, MYO7A, PCDH15, USH1C, USH1G	-	-
02413	USH-1F	Usher syndrome, type 1F (USH-1F)	602083	0	0	PCDH15	-	-