1 2 3 4 5 6 7 8 9 10

18

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