|
CYP11B2
(HGNC:2592)
|
corticosterone methyloxidase type 2 deficiency
(MONDO_0012524)
|
Strong
|
|
|
CYP11B1
(HGNC:2591)
|
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
(MONDO_0008729)
|
Definitive
|
|
|
CYP11A1
(HGNC:2590)
|
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
(MONDO_0013400)
|
Strong
|
|
|
MFSD2A
(HGNC:25897)
|
autosomal recessive primary microcephaly
(MONDO_0016660)
|
Strong
|
|
|
CEP89
(HGNC:25907)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
POMGNT2
(HGNC:25902)
|
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
|
Moderate
|
|
|
ORAI1
(HGNC:25896)
|
Stormorken syndrome
(MONDO_0008497)
|
Moderate
|
|
|
ORAI1
(HGNC:25896)
|
tubular aggregate myopathy
(MONDO_0008051)
|
Strong
|
|
|
CYLD
(HGNC:2584)
|
familial multiple trichoepithelioma
(MONDO_0011114)
|
Definitive
|
|
|
ZNF606
(HGNC:25879)
|
neuromyelitis optica
(MONDO_0019100)
|
Limited
|
|
|
GINS3
(HGNC:25851)
|
Meier-Gorlin syndrome
(MONDO_0016817)
|
Strong
|
|
|
GRHL3
(HGNC:25839)
|
van der Woude syndrome
(MONDO_0019508)
|
Strong
|
|
|
SRD5A3
(HGNC:25812)
|
SRD5A3-congenital disorder of glycosylation
(MONDO_0012885)
|
Strong
|
|
|
CYLD
(HGNC:2584)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
ADK
(HGNC:257)
|
adenosine kinase deficiency
(MONDO_0100255)
|
Strong
|
|
|
FAM161A
(HGNC:25808)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
CPLANE1
(HGNC:25801)
|
orofaciodigital syndrome type 6
(MONDO_0010176)
|
Strong
|
|
|
CYC1
(HGNC:2579)
|
mitochondrial disease
(MONDO_0044970)
|
Limited
|
|
|
GUF1
(HGNC:25799)
|
West syndrome
(MONDO_0018097)
|
Limited
|
|
|
EFL1
(HGNC:25789)
|
Shwachman-Diamond syndrome
(MONDO_0009833)
|
Strong
|
|