|
AAGAB
(HGNC:25662)
|
punctate palmoplantar keratoderma type 1
(MONDO_0019332)
|
Strong
|
|
|
CCDC88A
(HGNC:25523)
|
PEHO-like syndrome
(MONDO_0020495)
|
Limited
|
|
|
BCORL1
(HGNC:25657)
|
Shukla-Vernon syndrome
(MONDO_0026727)
|
Limited
|
|
|
ANO10
(HGNC:25519)
|
autosomal recessive spinocerebellar ataxia 10
(MONDO_0013392)
|
Moderate
|
|
|
TTC21B
(HGNC:25660)
|
nephronophthisis 12
(MONDO_0013442)
|
Moderate
|
|
|
TBC1D23
(HGNC:25622)
|
pontocerebellar hypoplasia, type 11
(MONDO_0054669)
|
Moderate
|
|
|
WRAP53
(HGNC:25522)
|
dyskeratosis congenita
(MONDO_0015780)
|
Moderate
|
|
|
ARL13B
(HGNC:25419)
|
Joubert syndrome
(MONDO_0018772)
|
Strong
|
|
|
ODAD2
(HGNC:25583)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
CWF19L1
(HGNC:25613)
|
autosomal recessive spinocerebellar ataxia 17
(MONDO_0014503)
|
Moderate
|
|
|
NAXD
(HGNC:25576)
|
NAD(P)HX dehydratase deficiency
(MONDO_0034121)
|
Moderate
|
|
|
VPS53
(HGNC:25608)
|
pontocerebellar hypoplasia type 2E
(MONDO_0014370)
|
Limited
|
|
|
SETD5
(HGNC:25566)
|
intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
(MONDO_0014336)
|
Strong
|
|
|
CUL3
(HGNC:2553)
|
neurodevelopmental disorder with or without autism or seizures
(MONDO_0030994)
|
Strong
|
|
|
DARS2
(HGNC:25538)
|
mitochondrial disease
(MONDO_0044970)
|
Limited
|
|
|
CUBN
(HGNC:2548)
|
Imerslund-Grasbeck syndrome
(MONDO_0009853)
|
Definitive
|
|
|
TRMU
(HGNC:25481)
|
acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
(MONDO_0013111)
|
Strong
|
|
|
VAC14
(HGNC:25507)
|
Yunis-Varon syndrome
(MONDO_0008995)
|
Limited
|
|
|
MTPAP
(HGNC:25532)
|
mitochondrial disease
(MONDO_0044970)
|
Limited
|
|
|
TSR2
(HGNC:25455)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Limited
|
|