All diseases

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

Inheritance: Values based on OMIM's and HPO's values for inheritance.

AD	: Autosomal dominant
PI	: Autosomal dominant with paternal imprinting
MI	: Autosomal dominant with maternal imprinting
AR	: Autosomal recessive
DD	: Digenic dominant
DR	: Digenic recessive
IC	: Isolated Cases (Sporadic)
Mi	: Mitochondrial
Mu	: Multifactorial
SMo	: Somatic mosaicism
SMu	: Somatic mutation
OG	: Oligogenic (3 genes)
PG	: Polygenic (>3 genes)
XL	: X-linked
XLD	: X-linked dominant
XLR	: X-linked recessive
YL	: Y-linked

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

Legend

ID	Abbreviation	Name	OMIM ID	Inheritance	Individuals	Phenotypes	Associated with genes	Associated tissues	Disease features
00423	-	cancer, endometrial	608089	-	207	174	CDH1, MLH3, MSH3, MSH6, PTEN	-	-
00683	-	cancer, breast, familial	114480	-	8099	782	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	-	217	152	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)	-	-	62	30	CDH1	-	-
05458	DFN	deafness, nonsyndromic (DFN)	-	-	42	42	CDH23, CEACAM16, MYO15A, MYO6, MYO7A, OTOF, OTOG, PCDH15, TECTA, TMC1, USH1C	-	-
05400	DFNB	deafness, autosomal recessive (DFNB)	-	-	869	869	CDH23, MYO15A, MYO7A, OTOF, OTOG, 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	-	68	68	CDH1, IL1B, IL1RN, KRAS, MUTYH	-	-
00139	ID	intellectual disability (ID)	-	-	1037	913	AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 521 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)	-	-	86	86	CDH23, CLRN1, GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A	-	-
02115	USH-1	Usher syndrome, type 1 (USH-1)	-	-	642	643	CDH23, MYO7A, PCDH15, USH1C, USH1G	-	-
02413	USH-1F	Usher syndrome, type 1F (USH-1F)	602083	-	1	1	PCDH15	-	-

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