|
NARS2
(HGNC:26274)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
NARS2
(HGNC:26274)
|
combined oxidative phosphorylation defect type 24
(MONDO_0014547)
|
Strong
|
|
|
SPEF2
(HGNC:26293)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Moderate
|
|
|
PIEZO2
(HGNC:26270)
|
Marden-Walker syndrome
(MONDO_0009564)
|
Limited
|
|
|
PIEZO2
(HGNC:26270)
|
Gordon syndrome
(MONDO_0007252)
|
Strong
|
|
|
PIEZO2
(HGNC:26270)
|
arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
(MONDO_0007158)
|
Strong
|
|
|
POMK
(HGNC:26267)
|
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
|
Limited
|
|
|
OCEL1
(HGNC:26221)
|
Aicardi syndrome
(MONDO_0010568)
|
Disputed
|
|
|
STN1
(HGNC:26200)
|
Coats plus syndrome
(MONDO_0012815)
|
Moderate
|
|
|
FHOD3
(HGNC:26178)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Strong
|
|
|
COLGALT1
(HGNC:26182)
|
brain small vessel disease 3
(MONDO_0100105)
|
Moderate
|
|
|
CTC1
(HGNC:26169)
|
dyskeratosis congenita
(MONDO_0015780)
|
Strong
|
|
|
AGBL5
(HGNC:26147)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
PALB2
(HGNC:26144)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Definitive
|
|
|
PALB2
(HGNC:26144)
|
Fanconi anemia
(MONDO_0019391)
|
Strong
|
|
|
PALB2
(HGNC:26144)
|
familial ovarian cancer
(MONDO_0016248)
|
Moderate
|
|
|
TCTN1
(HGNC:26113)
|
Meckel syndrome
(MONDO_0018921)
|
Limited
|
|
|
CCDC40
(HGNC:26090)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Definitive
|
|
|
CYP2A6
(HGNC:2610)
|
nicotine dependence
(MONDO_0008575)
|
Limited
|
|
|
CYP27B1
(HGNC:2606)
|
vitamin D-dependent rickets, type 1
(MONDO_0009924)
|
Definitive
|
|