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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

108 entries on 2 pages. Showing entries 1 - 100.

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ID	Abbreviation	Name	OMIM ID	Inheritance	Individuals	Phenotypes	Associated with genes	Associated tissues	Disease features
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	-
00225	AoVCa	Ampulla of Vater cancer	-	-	2	2	-	-	-
00215	AppCa	Appendiceal cancer	-	-	3	3	-	-	-
00210	BBT	Benign brain tumor	-	-	24	27	-	-	-
00227	BKT	Benign kidney tumor	-	-	6	6	-	-	-
00180	BladCa	Bladder Cancer	109800	-	23	20	-	urinary bladder	-
00222	BloodCa	Blood Cancer	-	-	3	4	-	-	-
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	-
00122	BROVCA3	Breast-ovarian cancer, familial, susceptibility to, 3	613399	-	0	15	RAD51C	-	-
00221	CAL	Café au Lait spots	-	-	21	22	-	-	-
00173	CC	Cervical cancer	603956	-	13	10	-	cervix, uterine	-
00203	CerPol	Cervical Polyps	-	-	1	1	-	-	-
00193	CHL	Classic Hodgkin's Lymphoma	236000	-	8	7	-	-	-
00196	CHLC	Cholangiocarcinoma	615619	-	1	1	-	-	-
00032	CMM2	Melanoma, cutaneous malignant, 2	155601	-	6	6	CDKN2A	skin	-
00027	CMM3	Melanoma, cutaneous malignant, 3	609048	-	19	20	CDK4	skin	-
00199	ColPol	Colon polyps	-	-	134	140	-	-	-
00153	CRC	Colorectal cancer	114500	-	231	239	TP53	-	-
00228	CS	Carcinosarcoma	-	-	1	1	-	-	-
00205	CUP	Cancer of Unknown Primary	-	-	6	5	-	-	-
00117	CWS1	Cowden syndrome 1	158350	-	6	6	PTEN	-	-
00250	DesCa	Desmoid Cancer	-	-	1	1	-	-	-
00174	DFS	Dermatofibrosarcoma protuberans	607907	-	1	1	-	skin	-
00242	DuoCa	Duodenal Cancer	-	-	4	4	-	-	-
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	-
00232	F	Fibromas	-	-	4	4	-	-	-
00061	FANCA	Fanconi anemia, complementation group A	227650	-	1	1	FANCA	-	-
00244	FibFol	Fibrofolliculomas	-	-	4	4	-	-	-
00186	FM-SR	Fibromyxoid Sarcoma	-	-	1	1	-	-	-
00202	GaPol	Gastric Polyps	-	-	20	14	-	-	-
00084	GIST	Gastrointestinal stromal tumor	606764	-	8	8	KIT, SDHB, SDHC	-	-
00015	GLM3	Glioblastoma 3	613029	-	7	7	BRCA2	-	-
00195	GynCa	Gynecological Cancer	-	-	1	1	-	cervix, uterine;ovary;vagina	-
00217	HepBl	Hepatoblastoma	-	-	1	1	-	-	-
00235	HIR	Hirschsprung's	-	-	2	2	-	-	-
00247	HMGM	Hemangioma	-	-	12	13	-	-	-
00192	HNSCC	Head and Neck Cancer	275355	-	8	8	-	nasopharynx	-
00240	HypPT	Hyperparathyroidism	-	-	16	16	-	-	-
00237	JK	Jaw keratocysts	-	-	1	1	-	-	-
00183	LeioM	Leiomyosarcoma	-	-	3	2	-	-	-
00259	Les	Lesions	-	-	1	1	-	-	-
00219	LiCa	Liver Cancer	-	-	2	2	-	-	-
00233	LM	Leiomyoma	-	-	1	1	-	-	-
00185	LPSRCM	Liposarcoma	613488	-	2	2	-	-	-
00044	LuCa	Lung Cancer	211980	-	21	19	EGFR	lung	-
00252	LunLes	Lung lesions	-	-	5	5	-	-	-
00216	LymphoSRCM	Lymphosarcoma	-	-	1	1	-	-	-
00016	MDB	Medulloblastoma	155255	-	5	5	BRCA2, SUFU	-	-
00248	MenDis	Menetrier disease	-	-	1	1	-	-	-
00206	MF	Myelofibrosis	254450	-	2	1	-	-	-
00172	MM	Multiple Myeloma	254500	-	2	2	-	-	-
00209	MNGM	Meningioma	-	-	13	15	-	-	-
00031	MPCS	Pancreatic cancer/melanoma syndrome	606719	-	0	2	CDKN2A	pancreas;skin	-
00194	MXM	Myxoma	-	-	1	1	-	-	-
00223	NDL	Nodules	-	-	14	14	-	-	-
00226	NF	Neurofibromas	-	-	14	14	-	-	-
00101	NF1	Neurofibromatosis, type 1	162200	-	1	2	NF1	-	-
00110	NHL	Lymphoma, non-Hodgkin	605027	-	14	12	PRF1	-	-
00236	OBT	Other benign tumor	-	-	24	25	-	-	-
00238	OC	Osteochondroma	-	-	1	1	-	-	-
00155	OSRC	Osteosarcoma	259500	-	7	6	TP53	-	-
00171	OVCA	Ovarian Cancer	167000	-	1019	1003	SMARCA4	ovary	-
00175	OvTer	Ovarian Teratoma	166950	-	2	2	-	ovary	-
00147	PANCA	Pancreatic cancer	260350	-	17	17	STK11	-	-
00239	PanLes	Pancreatic lesions	-	-	10	10	-	-	-
00218	PCV	Polycythemia vera	-	-	1	1	-	-	-
00246	PD	Poikiloderma	-	-	1	1	-	-	-
00231	PerCa	Peritoneal cancer	-	-	2	2	-	-	-
00181	PFTC	Fallopian Tube Cancer	-	-	1	1	-	fallopian tube	-
00135	PGL2	Paragangliomas 2	601650	-	12	12	SDHAF2, SDHB	-	-
00136	PGL4	Paragangliomas 4	115310	-	2	3	SDHB	-	-
00087	Pheo	Pheochromocytoma, susceptibility to	171300	-	23	23	MAX, RET, SDHB, SDHD, TMEM127, VHL	-	-
00148	PJS	Peutz-Jeghers syndrome	175200	-	15	3	STK11	-	-
00017	PNCA2	Pancreatic cancer 2	613347	-	141	138	BRCA2	pancreas	-
00214	Polyposis	Polyposis	-	-	135	144	-	-	-
00040	PPB	Pleuropulmonary blastoma	601200	-	1	1	DICER1	lung	-
00018	PrCa	Prostate cancer	176807	-	60	52	BRCA2, CDH1, CHEK2	prostate	-
00075	PSP	Pneumothorax, primary spontaneous	173600	-	1	1	FLCN	-	-
00124	RB1	Retinoblastoma	180200	-	1	1	RB1	eyes	-
00080	RCC	Renal cell carcinoma	144700	-	58	60	HNF1A	kidney	-
00251	RenLes	Kidney lesions	-	-	12	15	-	-	-
00041	RMSE2	Rhabdomyosarcoma, embryonal, 2	180295	-	2	2	DICER1	-	-
00213	RMSRCM	Rhabdomyosarcoma	-	-	2	3	-	-	-
00211	Schw	Schwannoma	-	-	5	7	-	-	-
00224	SCT	Spinal cord tumor	-	-	6	6	-	-	-
00177	SIC	Small Intestine Cancer	-	-	10	9	-	small intestine	-
00179	SIPol	Small Intestine Polyps	-	-	15	2	-	-	-
00178	SkCa	Skin Cancer	-	-	17	16	-	skin	-
00243	SponPneum	Spontaneous Pneumothorax	-	-	1	1	-	-	-
00184	SRCM	Sarcoma	-	-	7	7	-	-	-
00220	TestCa	Testicular cancer	-	-	1	1	-	-	-

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