|
FLNA
(HGNC:3754)
|
otopalatodigital syndrome type 2
(MONDO_0010571)
|
Strong
|
|
|
TMEM231
(HGNC:37234)
|
Meckel syndrome
(MONDO_0018921)
|
Moderate
|
|
|
KLLN
(HGNC:37212)
|
Cowden disease
(MONDO_0016063)
|
Limited
|
|
|
CRPPA
(HGNC:37276)
|
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
|
Strong
|
|
|
ATP8B1
(HGNC:3706)
|
progressive familial intrahepatic cholestasis type 1
(MONDO_0008892)
|
Definitive
|
|
|
FHL1
(HGNC:3702)
|
X-linked myopathy with postural muscle atrophy
(MONDO_0010401)
|
Strong
|
|
|
FH
(HGNC:3700)
|
fumaric aciduria
(MONDO_0011730)
|
Definitive
|
|
|
FIBP
(HGNC:3705)
|
tall stature-intellectual disability-renal anomalies syndrome
(MONDO_0014918)
|
Moderate
|
|
|
FH
(HGNC:3700)
|
hereditary leiomyomatosis and renal cell cancer
(MONDO_0007888)
|
Definitive
|
|
|
FH
(HGNC:3700)
|
leiomyosarcoma
(MONDO_0005058)
|
Limited
|
|
|
FGG
(HGNC:3694)
|
congenital fibrinogen deficiency
(MONDO_0018060)
|
Strong
|
|
|
FGFR3
(HGNC:3690)
|
severe achondroplasia-developmental delay-acanthosis nigricans syndrome
(MONDO_0014658)
|
Definitive
|
|
|
FGG
(HGNC:3694)
|
thrombophilia
(MONDO_0002305)
|
Limited
|
|
|
FGFR3
(HGNC:3690)
|
camptodactyly-tall stature-scoliosis-hearing loss syndrome
(MONDO_0012504)
|
Moderate
|
|
|
FGFR3
(HGNC:3690)
|
Crouzon syndrome-acanthosis nigricans syndrome
(MONDO_0012833)
|
Strong
|
|
|
FGFR3
(HGNC:3690)
|
Muenke syndrome
(MONDO_0011274)
|
Definitive
|
|
|
FGFR3
(HGNC:3690)
|
LADD syndrome
(MONDO_0007872)
|
Moderate
|
|
|
FGFR3
(HGNC:3690)
|
thanatophoric dysplasia type 1
(MONDO_0008546)
|
Definitive
|
|
|
FGFR2
(HGNC:3689)
|
Jackson-Weiss syndrome
(MONDO_0007400)
|
Strong
|
|
|
FGFR3
(HGNC:3690)
|
hypochondroplasia
(MONDO_0007793)
|
Definitive
|
|