|
SLC26A2
(HGNC:10994)
|
multiple epiphyseal dysplasia
(MONDO_0016648)
|
Definitive
|
|
|
SLC22A5
(HGNC:10969)
|
systemic primary carnitine deficiency disease
(MONDO_0008919)
|
Definitive
|
|
|
SLCO2A1
(HGNC:10955)
|
primary hypertrophic osteoarthropathy
(MONDO_0016620)
|
Definitive
|
|
|
SLC20A2
(HGNC:10947)
|
basal ganglia calcification, idiopathic, 1
(MONDO_0024538)
|
Definitive
|
|
|
SLC19A2
(HGNC:10938)
|
thiamine-responsive megaloblastic anemia syndrome
(MONDO_0009575)
|
Definitive
|
|
|
SLC17A5
(HGNC:10933)
|
Salla disease
(MONDO_0011449)
|
Definitive
|
|
|
FOXL2
(HGNC:1092)
|
blepharophimosis, ptosis, and epicanthus inversus syndrome
(MONDO_0007201)
|
Definitive
|
|
|
FOXL2
(HGNC:1092)
|
granulosa cell tumor
(MONDO_0006036)
|
Strong
|
|
|
FOXL2
(HGNC:1092)
|
premature menopause
(MONDO_0001119)
|
Strong
|
|
|
SGSH
(HGNC:10818)
|
mucopolysaccharidosis type 3
(MONDO_0018937)
|
Definitive
|
|
|
SHOX
(HGNC:10853)
|
Leri-Weill dyschondrosteosis
(MONDO_0007481)
|
Definitive
|
|
|
SGCG
(HGNC:10809)
|
limb-girdle muscular dystrophy
(MONDO_0016971)
|
Strong
|
|
|
SGCG
(HGNC:10809)
|
autosomal recessive limb-girdle muscular dystrophy type 2C
(MONDO_0009677)
|
Definitive
|
|
|
SGSH
(HGNC:10818)
|
mucopolysaccharidosis type 3A
(MONDO_0009655)
|
Definitive
|
|
|
SGCB
(HGNC:10806)
|
autosomal recessive limb-girdle muscular dystrophy type 2E
(MONDO_0011423)
|
Definitive
|
|
|
SGCE
(HGNC:10808)
|
myoclonic dystonia 11
(MONDO_0008044)
|
Definitive
|
|
|
RS1
(HGNC:10457)
|
X-linked retinoschisis
(MONDO_0010725)
|
Definitive
|
|
|
SGCA
(HGNC:10805)
|
autosomal recessive limb-girdle muscular dystrophy type 2D
(MONDO_0011968)
|
Definitive
|
|
|
BCR
(HGNC:1014)
|
chronic myelogenous leukemia, BCR-ABL1 positive
(MONDO_0011996)
|
Definitive
|
|
|
SCNN1B
(HGNC:10600)
|
Liddle syndrome
(MONDO_0008323)
|
Definitive
|
|