All diseases

Legend

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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

258 entries on 3 pages. Showing entries 1 - 100.

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ID	Abbreviation	Name	OMIM ID	Inheritance	Individuals	Phenotypes	Associated with genes	Associated tissues	Disease features
00111	ACRDYS1	Acrodysostosis 1, with or without hormone resistance	101800	-	0	0	PRKAR1A	-	-
00150	ADCC	Adrenocortical carcinoma, pediatric	202300	-	0	0	TP53	-	-
00230	ADNM	Adenoma	-	-	20	26	-	-	-
00190	AGCa	Adrenal Gland Cancer	-	-	7	7	-	adrenal gland	-
00176	ALL	Acute Lymphoblastic Leukemia	613065	-	5	3	-	-	-
00033	AML	Acute Myeloid Leukemia	601626	-	5	5	CEBPA, GATA2, KIT, NSD1, RUNX1	bone marrow	-
00256	AngFib	Angiofibromas	-	-	0	0	-	-	-
00225	AoVCa	Ampulla of Vater cancer	-	-	2	2	-	-	-
00099	AplAn	Aplastic anemia	609135	-	0	0	NBN, PRF1, SBDS	-	-
00215	AppCa	Appendiceal cancer	-	-	3	3	-	-	-
00005	AT	Ataxia-Telangiectasia	208900	-	0	0	ATM	-	-
00210	BBT	Benign brain tumor	-	-	24	27	-	-	-
00156	BCC7	Basal cell carcinoma 7	614740	-	1	0	TP53	-	-
00025	BCDS1	Blepharocheilodontic syndrome 1	119580	-	0	0	CDH1	-	-
00115	BCNS	Basal cell nevus syndrome	109400	-	0	0	PTCH1, SUFU	-	-
00125	BGS	Baller-Gerold syndrome	218600	-	0	0	RECQL4	-	-
00074	BHD	Birt-Hogg-Dube syndrome	135150	-	0	0	FLCN	-	-
00227	BKT	Benign kidney tumor	-	-	6	6	-	-	-
00180	BladCa	Bladder Cancer	109800	-	23	20	-	urinary bladder	-
00007	BLM	Bloom Syndrome	210900	-	0	0	BLM	-	-
00222	BloodCa	Blood Cancer	-	-	3	4	-	-	-
00151	BMFS5	Bone marrow failure syndrome 5	618165	-	0	0	TP53	-	-
00249	BonMal	Bone malformation	-	-	1	1	-	-	-
00191	BrainCa	Brain Cancer	-	-	20	20	-	brain	-
00001	BrCa	Breast Cancer	114480	-	4048	4505	ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NTHL1, PALB2, RAD51C, RAD51D, TP53	breast	-
00010	BROVCA1	Breast-ovarian cancer, familial, 1	604370	-	0	0	BRCA1	breast;ovary	-
00014	BROVCA2	Breast-ovarian cancer, familial, 2	612555	-	0	0	BRCA2	breast;ovary	-
00122	BROVCA3	Breast-ovarian cancer, familial, susceptibility to, 3	613399	-	0	15	RAD51C	-	-
00123	BROVCA4	Breast-ovarian cancer, familial, susceptibility to, 4	614291	-	0	0	RAD51D	-	-
00035	BRSS	Brooke-Spiegler syndrome	605041	-	0	0	CYLD	-	-
00028	BWS	Beckwith-Wiedemann syndrome	130650	-	0	0	CDKN1C	-	-
00221	CAL	Café au Lait spots	-	-	21	22	-	-	-
00173	CC	Cervical cancer	603956	-	13	10	-	cervix, uterine	-
00106	CCHS	Central hypoventilation syndrome	209880	-	0	0	PHOX2B, RET	-	-
00026	CDH1	Gastric cancer, familial diffuse, with or without cleft lip and/or palate	137215	-	0	0	CDH1	stomach	-
00203	CerPol	Cervical Polyps	-	-	1	1	-	-	-
00193	CHL	Classic Hodgkin's Lymphoma	236000	-	8	7	-	-	-
00196	CHLC	Cholangiocarcinoma	615619	-	1	1	-	-	-
00056	ChonSar	Chondrosarcoma	215300	-	0	0	EXT1	-	-
00032	CMM2	Melanoma, cutaneous malignant, 2	155601	-	6	6	CDKN2A	skin	-
00027	CMM3	Melanoma, cutaneous malignant, 3	609048	-	19	20	CDK4	skin	-
00112	CNC1	Carney complex, type 1	160980	-	0	0	PRKAR1A	-	-
00229	CNST	Central Nervous System Tumor	-	-	0	0	-	-	-
00047	COFS2	Cerebrooculofacioskeletal syndrome 2	610756	-	0	0	ERCC2	-	-
00054	COFS3	Cerebrooculofacioskeletal syndrome 3	616570	-	0	0	ERCC5	-	-
00199	ColPol	Colon polyps	-	-	134	140	-	-	-
00152	CPP	Choroid plexus papilloma	260500	-	0	0	TP53	-	-
00153	CRC	Colorectal cancer	114500	-	231	239	TP53	-	-
00228	CS	Carcinosarcoma	-	-	1	1	-	-	-
00144	CSS3	Coffin-Siris syndrome 3	614608	-	0	0	SMARCB1	-	-
00083	CSTLO	Congenital myopathy with excess of muscle spindles	218040	-	0	0	HRAS	-	-
00205	CUP	Cancer of Unknown Primary	-	-	6	5	-	-	-
00117	CWS1	Cowden syndrome 1	158350	-	6	6	PTEN	-	-
00164	DDS	Denys-Drash syndrome	194080	-	0	0	WT1	-	-
00250	DesCa	Desmoid Cancer	-	-	1	1	-	-	-
00089	DFNB97	Deafness, autosomal recessive 97	616705	-	0	0	MET	-	-
00174	DFS	Dermatofibrosarcoma protuberans	607907	-	1	1	-	skin	-
00046	DIAR5	Diarrhea 5, with tufting enteropathy, congenital	613217	-	0	0	EPCAM	-	-
00242	DuoCa	Duodenal Cancer	-	-	4	4	-	-	-
00254	Dys	Dysplasia	-	-	0	0	-	-	-
00161	ECYT2	Erythrocytosis, familial, 2	263400	-	0	0	VHL	-	-
00076	EmbS	Emberger syndrome	614038	-	0	0	GATA2	-	-
00097	ENC	Endometrial cancer, familial	608089	-	102	101	MSH6	-	-
00182	ENDO	Endometriosis	131200	-	1	1	-	-	-
00204	EnPol	Endometrial polyps	-	-	20	13	-	-	-
00212	Epend	Ependymoma	-	-	1	1	-	-	-
00188	EsCa	Esophageal Cancer	133239	-	1	1	-	esophagus	-
00057	EXT1	Exostoses, multiple, type 1	133700	-	0	0	EXT1	-	-
00059	EXT2	Exostoses, multiple, type 2	133701	-	0	0	EXT2	-	-
00232	F	Fibromas	-	-	4	4	-	-	-
00061	FANCA	Fanconi anemia, complementation group A	227650	-	1	1	FANCA	-	-
00062	FANCB	Fanconi anemia, complementation group B	300514	-	0	0	FANCB	-	-
00063	FANCC	Fanconi anemia, complementation group C	227645	-	0	0	FANCC	-	-
00012	FANCD1	Fanconi anemia, complementation group D1	605724	-	0	0	BRCA2	-	-
00064	FANCD2	Fanconi anemia, complementation group D2	227646	-	0	0	FANCD2	-	-
00065	FANCE	Fanconi anemia, complementation group E	600901	-	0	0	FANCE	-	-
00066	FANCF	Fanconi anemia, complementation group F	603467	-	0	0	FANCF	-	-
00067	FANCG	Fanconi anemia, complementation group G	614082	-	0	0	FANCG	-	-
00068	FANCI	Fanconi anemia, complementation group I	609053	-	0	0	FANCI	-	-
00019	FANCJ	Fanconi anemia, complementation group J	609054	-	0	0	BRIP1	-	-
00069	FANCL	Fanconi anemia, complementation group L	614083	-	0	0	FANCL	-	-
00104	FANCN	Fanconi anemia, complementation group N	610832	-	0	0	PALB2	-	-
00121	FANCO	Fanconi anemia, complementation group O	613390	-	0	0	RAD51C	-	-
00141	FANCP	Fanconi anemia, complementation group P	613951	-	0	0	SLX4	-	-
00052	FANCQ	Fanconi anemia, complementation group Q	615272	-	0	0	ERCC4	-	-
00009	FANCS	Fanconi anemia, complementation group S	617883	-	0	0	BRCA1	-	-
00004	FAP1	Familial Adenomatous Polyposis 1	175100	-	0	0	APC	brain;colon;rectum	-
00098	FAP2	Familial Adenomatous Polyposis 2	608456	-	0	0	MUTYH	-	-
00170	FAP3	Familial adenomatous polyposis 3	616415	-	0	0	NTHL1	-	-
00036	FCyl	Cylindromatosis, familial	132700	-	0	0	CYLD	-	-
00109	FHL2	Hemophagocytic lymphohistiocytosis, familial, 2	603553	-	0	0	PRF1	-	-
00244	FibFol	Fibrofolliculomas	-	-	4	4	-	-	-
00186	FM-SR	Fibromyxoid Sarcoma	-	-	1	1	-	-	-
00120	FMNG	Meningioma, familial, susceptibility to	607174	-	0	0	PTEN, SUFU	-	-
00072	FMRD	Fumarase deficiency	606812	-	0	0	FH	-	-
00133	FPDMM	Platelet disorder, familial, with associated myeloid malignancy	601399	-	0	0	RUNX1	-	-
00165	FRSR	Frasier syndrome	136680	-	0	0	WT1	-	-
00202	GaPol	Gastric Polyps	-	-	20	14	-	-	-
00084	GIST	Gastrointestinal stromal tumor	606764	-	8	8	KIT, SDHB, SDHC	-	-
00157	GLM1	Glioma susceptibility 1	137800	-	0	0	TP53	-	-

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