disease-causing genes identified at ut southwestern...oct 23, 2017 · 1 2 3 4 5 6 7 8 9 10 18 11 x...
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11 X
12 13 14 15 16 17 19 20 21 22 YFAMILIAL
HYPERCHOLESTEROLEMIALDLR (1983)
CYP27A1 (1991)
CEREBROTENDINOUSXANTHOMATOSIS
DW Russell
MALE PSEUDOHERMAPHRODITISM
SRD5A2 (1991)
MALEPSEUDOHERMAPHRODITISM
DW Russell& S Andersson
HSD17B3 (1994)
CHOROIDEREMIA
MS Brown &JL Goldstein
MS Brown & JL Goldstein
CHM (1993)
HIRSCHSPRUNG’S
M YanagisawaEDNRB (1994)
MULTIPLEEXOSTOSES
GA EvansEXT2 (1996)
PROGRESSIVENEONATAL
CHOLESTASIS
DW RussellCYP7B1 (1998)
MALONYL CoADECARBOXYLASE
DEFICIENCY
JC CohenMLYCD (1999)
PROGRESSIVEINTRAHEPATICCHOLESTASIS
AROMATASEDEFICIENCY
DW Russell
ER SimpsonHSD3B7 (2000)
CYP19A1 (1993)
PULMONARYFIBROSIS
C GarciaPARN (2015)
AUTOSOMAL RECESSIVEHYPERCHOLESTEROLEMIA
SITOSTEROLEMIA
STARGARDTDISEASE
HH HobbsABCG5/ABCG8 (2000)
OBESITY
AR ZinnSIM1 (2000)
CK Garcia, JC Cohen& HH Hobbs
LDLRAP1 (2001)
CONGENITALGENERALIZED
LIPODYSTROPHY
PULMONARYFIBROSIS + LUNG
CANCERAGPAT2 (2002)
A Garg
PAPA SYNDROME
CA WisePSTPIP1 (2002)
PULMONARY FIBROSIS
CK GarciaRTEL1 (2015)
25-HYDROXYVITAMIN DDEFICIENCY
DW Russell & DJ Mangelsdorf
CYP2R1 (2004) ATRIAL
SEPTAL DEFECTGATA4 (2004)
DOMINANTHYPOBETALIPOPROTEINEMIA
HH Hobbs & JC Cohen
PCSK9 (2005)
INFANTILENEURONAL CEROID
LIPOFUSCINOSIS
SL HofmannPPT1 (1995)
MANDIBULOACRALDYSPLASIA
A GargZMPSTE24 (2003)
AGE-RELATEDMACULAR DEGENERATION
AO EdwardsCFH (2005)
AORTIC VALVEDISEASE SFTPA2 (2009)
CK Garcia
XLPDRPOLA1 (2015)
AR Zinn & E Burstein
D Srivastava &V Garg
D Srivastava &V Garg
NOTCH1 (2005)
PULMONARY FIBROSIS
TERT (2007)CK Garcia
OSTEOFIBROUS DYSPLASIAMET (2007)
C Wise & J Rios
ELOVL4 (2001)AO Edwards
JMP SYNDROMEPSMB8 (2010)
A Garg
CK Garcia
PULMONARY FIBROSIS
TYPE 1MACRODACTYLY
PIK3CA (2013)J Rios
TERC (2007)
Disease-Causing Genes Identified at UT Southwestern
SPONTANEOUS PNEUMOTHORAX
FLCN (2005)CK Garcia THROMBOTIC
MICROANGIOPATHY DGKE (2012)
M Attanasio
DW Russell& S Andersson