
?Cutaneous telangiectasia and cancer syndrome, familial, 614564 (3)	ATR, FRP1, SCKL1, FCTCS	601215	3q23
Adenocarcinoma, ovarian, somatic, 167000 (3)	PRKN, PARK2, PDJ, LPRS2	602544	6q26
# Copyright (c) 1966-2017 Johns Hopkins University. Use of this file adheres to the terms specified at https://omim.org/help/agreement.
# Generated: 2017-06-29
# See end of file for additional documentation on specific fields
# Phenotype	Gene Symbols	MIM Number	Cyto Location
Adenomatous polyposis coli, 175100 (2)	APC, GS, FPC, BTPS2	611731	5q22.2
Brain tumor-polyposis syndrome 2, 175100 (2)	APC, GS, FPC, BTPS2	611731	5q22.2
Breast cancer, 114480 (3)	TP53, P53, LFS1 , BCC7	191170	17p13.1
Breast cancer, early-onset, 114480 (3)	BRIP1, BACH1, FANCJ	605882	17q23.2
Breast cancer, somatic, 114480 (3)	AKT1, CWS6	164730	14q32.33
Breast cancer, somatic, 114480 (3)	KRAS, KRAS2, RASK2, NS, CFC2, RALD	190070	12p12.1
Breast cancer, somatic, 114480 (3)	PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5	171834	3q26.32
Breast cancer, somatic, 114480 (3)	PPM1D, WIP1, IDDGIP	605100	17q23.2
Breast cancer, somatic, 114480 (3)	RB1CC1, CC1, KIAA0203	606837	8q11.23
Breast cancer, somatic, 114480 (3)	SLC22A1L, BWSCR1A, IMPT1	602631	11p15.4
Breast cancer, somatic, 114480 (3)	TSG101	601387	11p15.1
Cowden syndrome 1, 158350 (3)	PTEN, MMAC1, GLM2, CWS1	601728	10q23.31
Cowden syndrome 5, 615108 (3)	PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5	171834	3q26.32
Cowden syndrome 6, 615109 (3)	AKT1, CWS6	164730	14q32.33
Familial adenomatous polyposis 3, 616415 (3)	NTHL1, OCTS3, FAP3	602656	16p13.3
Gardner syndrome, 175100 (2)	APC, GS, FPC, BTPS2	611731	5q22.2
Lhermitte-Duclos syndrome, 158350 (3)	PTEN, MMAC1, GLM2, CWS1	601728	10q23.31
Li-Fraumeni syndrome, 151623 (3)	TP53, P53, LFS1 , BCC7	191170	17p13.1
Muir-Torre syndrome, 158320 (3)	MLH1, COCA2, HNPCC2	120436	3p22.2
Muir-Torre syndrome, 158320 (3)	MSH2, COCA1, FCC1, HNPCC1	609309	2p21-p16
Ovarian cancer, somatic, 167000 (3)	AKT1, CWS6	164730	14q32.33
Ovarian cancer, somatic, 167000 (3)	CTNNB1, MRD19	116806	3p22.1
Ovarian cancer, somatic, 167000 (3)	PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5	171834	3q26.32
Ovarian carcinoma, somatic, 167000 (3)	CDH1, UVO, LCAM, ECAD	192090	16q22.1
Peutz-Jeghers syndrome, 175200 (3)	STK11, PJS, LKB1	602216	19p13.3
Saethre-Chotzen syndrome with eyelid anomalies, 101400 (2)	TWIST1, ACS3, SCS, CRS1	601622	7p21.1
Saethre-Chotzen syndrome, 101400 (3)	FGFR2, BEK, CFD1, JWS, TK14, BBDS	176943	10q26.13
Saethre-Chotzen syndrome, 101400 (2)	TWIST1, ACS3, SCS, CRS1	601622	7p21.1
[Axillary odor, variation in], 117800 (3)	ABCC11, MRP8, EWWD, WW	607040	16q12.1
[Colostrum secretion, variation in], 117800 (3)	ABCC11, MRP8, EWWD, WW	607040	16q12.1
[Earwax, wet/dry], 117800 (3)	ABCC11, MRP8, EWWD, WW	607040	16q12.1
{?Breast cancer susceptibility}, 114480 (1)	NQO2, NMOR2	160998	6p25.2
{Breast cancer, invasive ductal}, 114480 (3)	RAD54L, HR54, HRAD54	603615	1p34.1
{Breast cancer, lobular}, 114480 (3)	CDH1, UVO, LCAM, ECAD	192090	16q22.1
{Breast cancer, male, susceptibility to}, 114480 (4)	BRCA2, FANCD1, BROVCA2, GLM3, PNCA2	600185	13q13.1
{Breast cancer, protection against}, 114480 (3)	CASP8, MCH5, ALPS2B	601763	2q33.1
{Breast cancer, susceptibility to}, 114480 (3)	ATM, ATA, AT1	607585	11q22.3
{Breast cancer, susceptibility to}, 114480 (3)	BARD1	601593	2q35
{Breast cancer, susceptibility to}, 114480 (3)	CHEK2, RAD53, CHK2, CDS1, LFS2	604373	22q12.1
{Breast cancer, susceptibility to}, 114480 (3)	HMMR	600936	5q34
{Breast cancer, susceptibility to}, 114480 (3)	PALB2, FANCN, PNCA3	610355	16p12.2
{Breast cancer, susceptibility to}, 114480 (3)	PHB	176705	17q21.33
{Breast cancer, susceptibility to}, 114480 (3)	RAD51A, RECA, MRMV2, FANCR	179617	15q15.1
{Breast cancer, susceptibility to}, 114480 (3)	XRCC3, CMM6	600675	14q32.33
{Breast cancer}, 114480 (1)	ESR1, ESR, ESTRR	133430	6q25.1-q25.2
{Breast-ovarian cancer, familial, 1}, 604370 (4)	BRCA1, PSCP, BROVCA1, PNCA4	113705	17q21.31
{Breast-ovarian cancer, familial, 2}, 612555 (4)	BRCA2, FANCD1, BROVCA2, GLM3, PNCA2	600185	13q13.1
{Ovarian cancer, somatic}, 167000 (3)	OPCML	600632	11q25
46XY sex reversal 10 (4)	SRXY10	616425	17q24
#
#
#
#
# Phenotypes :
# ------------
#
# Each Phenotype is followed by its MIM number, if different from that
# of the locus/gene, and then followed by its phenotype mapping
# key in parentheses (explanation below).
#
#
# Phenotype Mapping key - Appears in parentheses after a disorder :
# -----------------------------------------------------------------
#
# 1 - The disorder is placed on the map based on its association with
# a gene, but the underlying defect is not known.
# 2 - The disorder has been placed on the map by linkage or other
# statistical method; no mutation has been found.
# 3 - The molecular basis for the disorder is known; a mutation has been
# found in the gene.
# 4 - A contiguous gene deletion or duplication syndrome, multiple genes
# are deleted or duplicated causing the phenotype.
#
