|
CYLD
(HGNC:2584)
|
Brooke-Spiegler syndrome
(MONDO_0011512)
|
Definitive
|
|
|
CYLD
(HGNC:2584)
|
familial cylindromatosis
(MONDO_0007565)
|
Definitive
|
|
|
CPLANE1
(HGNC:25801)
|
Joubert syndrome
(MONDO_0018772)
|
Strong
|
|
|
CYBB
(HGNC:2578)
|
chronic granulomatous disease
(MONDO_0018305)
|
Definitive
|
|
|
CYBB
(HGNC:2578)
|
granulomatous disease, chronic, X-linked
(MONDO_0010600)
|
Definitive
|
|
|
DCAF17
(HGNC:25784)
|
Woodhouse-Sakati syndrome
(MONDO_0009419)
|
Definitive
|
|
|
ARMC5
(HGNC:25781)
|
Cushing syndrome
(MONDO_0018912)
|
Strong
|
|
|
ARMC5
(HGNC:25781)
|
Cushing syndrome due to macronodular adrenal hyperplasia
(MONDO_0009049)
|
Definitive
|
|
|
FANCI GENE
(HGNC:25568)
|
Fanconi anemia
(MONDO_0019391)
|
Strong
|
|
|
BCORL1
(HGNC:25657)
|
acute myeloid leukemia
(MONDO_0018874)
|
Moderate
|
|
|
CUL3
(HGNC:2553)
|
pseudohypoaldosteronism type 2
(MONDO_0019162)
|
Strong
|
|
|
C19orf12
(HGNC:25443)
|
neurodegeneration with brain iron accumulation
(MONDO_0018307)
|
Definitive
|
|
|
DARS2
(HGNC:25538)
|
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
(MONDO_0012622)
|
Definitive
|
|
|
C19orf12
(HGNC:25443)
|
neurodegeneration with brain iron accumulation 4
(MONDO_0013674)
|
Strong
|
|
|
TANGO2
(HGNC:25439)
|
recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
(MONDO_0018820)
|
Strong
|
|
|
CTSC
(HGNC:2528)
|
Haim-Munk syndrome
(MONDO_0009491)
|
Moderate
|
|
|
CTSK
(HGNC:2536)
|
pycnodysostosis
(MONDO_0009940)
|
Definitive
|
|
|
AHDC1
(HGNC:25230)
|
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
(MONDO_0014358)
|
Strong
|
|
|
CTSC
(HGNC:2528)
|
Papillon-Lefevre disease
(MONDO_0009490)
|
Definitive
|
|
|
CTNS
(HGNC:2518)
|
nephropathic cystinosis
(MONDO_0100151)
|
Definitive
|
|