|
FKRP
(HGNC:17997)
|
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
|
Strong
|
|
|
EXOSC3
(HGNC:17944)
|
pontocerebellar hypoplasia type 1
(MONDO_0016396)
|
Strong
|
|
|
TRPM4
(HGNC:17993)
|
erythrokeratodermia variabilis
(MONDO_0017851)
|
Moderate
|
|
|
B3GALT6
(HGNC:17978)
|
spondyloepimetaphyseal dysplasia with joint laxity
(MONDO_0019675)
|
Strong
|
|
|
CDKN2A
(HGNC:1787)
|
melanoma, cutaneous malignant, susceptibility to, 2
(MONDO_0007964)
|
Strong
|
|
|
SLC22A12
(HGNC:17989)
|
hereditary renal hypouricemia
(MONDO_0009071)
|
Strong
|
|
|
REEP2
(HGNC:17975)
|
hereditary spastic paraplegia
(MONDO_0019064)
|
Moderate
|
|
|
PGAP2
(HGNC:17893)
|
hyperphosphatasia-intellectual disability syndrome
(MONDO_0016596)
|
Strong
|
|
|
PSMC3IP
(HGNC:17928)
|
46 XX gonadal dysgenesis
(MONDO_0009299)
|
Moderate
|
|
|
CDKN2A
(HGNC:1787)
|
familial atypical multiple mole melanoma syndrome
(MONDO_0018453)
|
Definitive
|
|
|
PGAP2
(HGNC:17893)
|
hyperphosphatasia with intellectual disability syndrome 3
(MONDO_0013628)
|
Moderate
|
|
|
CDKN2B
(HGNC:1788)
|
renal cell carcinoma
(MONDO_0005086)
|
Limited
|
|
|
GJC2
(HGNC:17494)
|
hereditary spastic paraplegia 44
(MONDO_0013179)
|
Limited
|
|
|
CDKN2A
(HGNC:1787)
|
melanoma-pancreatic cancer syndrome
(MONDO_0011713)
|
Strong
|
|
|
CDKN2A
(HGNC:1787)
|
melanoma and neural system tumor syndrome
(MONDO_0007967)
|
Limited
|
|
|
DACT1
(HGNC:17748)
|
Townes-Brocks syndrome 2
(MONDO_0054582)
|
Moderate
|
|
|
NMNAT1
(HGNC:17877)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Definitive
|
|
|
GJC2
(HGNC:17494)
|
hypomyelinating leukodystrophy 2
(MONDO_0012125)
|
Strong
|
|
|
SARS2
(HGNC:17697)
|
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
(MONDO_0013458)
|
Moderate
|
|
|
NMNAT1
(HGNC:17877)
|
cone-rod dystrophy
(MONDO_0015993)
|
Moderate
|
|