Gene

CELSR1

Pathology

Primary lymphedema.

Gene

FLT4

Pathology

Primary lymphedema.

Gene

FOXC2

Pathology

Lymphedema-distichiasis syndrome; Primary lymphedema.

Gene

ABCC6

Pathology

Congenital vascular malformations; Juvenile hemorrhagic stroke.

Gene

COL3A1

Pathology

Congenital vascular malformations; Juvenile hemorrhagic stroke.

Gene

TEK

Pathology

Congenital vascular malformations.

Gene

ABCA4

Pathology

Retinitis pigmentosa AD, AR, sporadic; Stargardt macular dystrophy; Cone dystrophy AD, AR, X-linked, sporadic; Macular dystrophy.

Gene

BEST1

Pathology

Best disease; Vitelliform macular dystrophy; Retinitis pigmentosa AD, AR, sporadic; Macular dystrophy.

Gene

CHM

Pathology

Choroideremia.

Gene

CRX

Pathology

Cone dystrophy AD, AR, X-linked, sporadic; Retinitis pigmentosa AD, AR, sporadic; Leber congenital amaurosis; Macular dystrophy.

Gene

MERTK

Pathology

Retinitis pigmentosa AD, AR, sporadic.

Gene

MYO7A

Pathology

Usher syndrome.

Gene

NR2E3

Pathology

Retinitis pigmentosa AD, AR, sporadic; Enhanced S-cone syndrome.

Gene

OAT

Pathology

Gyrate atrophy of choroid and retina.

Gene

PROM1

Pathology

Stargardt macular dystrophy; Cone dystrophy AD, AR, X-linked, sporadic; Retinitis pigmentosa AD, AR, sporadic; Macular dystrophy.

Gene

PRPH2

Pathology

Retinitis pigmentosa AD, AR, sporadic; Vitelliform macular dystrophy; Retinitis punctata albescens; Macular dystrophy.

Gene

RHO

Pathology

Retinitis pigmentosa AD, AR, sporadic; Retinitis punctata albescens.

Gene

RP1

Pathology

Retinitis pigmentosa AD, AR, sporadic.

Gene

RP2

Pathology

Retinitis pigmentosa AD, AR, sporadic; Retinitis pigmentosa X-linked.

Gene

RPGR

Pathology

Retinitis pigmentosa AD, AR, sporadic; Retinitis pigmentosa X-linked; Cone dystrophy AD, AR, X-linked, sporadic; Macular dystrophy.

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