|
SLC19A3
(HGNC:16266)
|
biotin-responsive basal ganglia disease
(MONDO_0011841)
|
Definitive
|
|
|
SLC52A3
(HGNC:16187)
|
riboflavin transporter deficiency
(MONDO_0008891)
|
Strong
|
|
|
PCNT
(HGNC:16068)
|
microcephalic osteodysplastic primordial dwarfism type II
(MONDO_0008872)
|
Definitive
|
|
|
APTX
(HGNC:15984)
|
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
(MONDO_0008842)
|
Definitive
|
|
|
GDAP1
(HGNC:15968)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Definitive
|
|
|
RP1L1
(HGNC:15946)
|
occult macular dystrophy
(MONDO_0013316)
|
Strong
|
|
|
SAMHD1
(HGNC:15925)
|
Aicardi-Goutieres syndrome
(MONDO_0018866)
|
Strong
|
|
|
PANK2
(HGNC:15894)
|
neurodegeneration with brain iron accumulation
(MONDO_0018307)
|
Definitive
|
|
|
PANK2
(HGNC:15894)
|
pantothenate kinase-associated neurodegeneration
(MONDO_0009319)
|
Definitive
|
|
|
FERMT1
(HGNC:15889)
|
Kindler syndrome
(MONDO_0008260)
|
Definitive
|
|
|
ABHD12
(HGNC:15868)
|
PHARC syndrome
(MONDO_0012984)
|
Definitive
|
|
|
ADNP
(HGNC:15766)
|
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
(MONDO_0014379)
|
Definitive
|
|
|
KRIT1
(HGNC:1573)
|
cerebral cavernous malformation
(MONDO_0000820)
|
Definitive
|
|
|
IL36RN
(HGNC:15561)
|
generalized pustular psoriasis
(MONDO_0100491)
|
Definitive
|
|
|
IL36RN
(HGNC:15561)
|
psoriasis 14, pustular
(MONDO_0013626)
|
Strong
|
|
|
MBTPS2
(HGNC:15455)
|
IFAP syndrome
(MONDO_0100212)
|
Strong
|
|
|
SPINK5
(HGNC:15464)
|
Netherton syndrome
(MONDO_0009735)
|
Definitive
|
|
|
SHOC2
(HGNC:15454)
|
RASopathy
(MONDO_0021060)
|
Definitive
|
|
|
SHOC2
(HGNC:15454)
|
Noonan syndrome
(MONDO_0018997)
|
Strong
|
|
|
PRPF31
(HGNC:15446)
|
retinitis pigmentosa
(MONDO_0019200)
|
Definitive
|
|