|
CTLA4
(HGNC:2505)
|
autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
(MONDO_0014493)
|
Strong
|
|
|
ACD
(HGNC:25070)
|
Hoyeraal-Hreidarsson syndrome
(MONDO_0018045)
|
Limited
|
|
|
CTLA4
(HGNC:2505)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Moderate
|
|
|
TMEM216
(HGNC:25018)
|
Meckel syndrome
(MONDO_0018921)
|
Strong
|
|
|
TMEM216
(HGNC:25018)
|
Joubert syndrome 2
(MONDO_0011963)
|
Strong
|
|
|
CCN2
(HGNC:2500)
|
spondyloepimetaphyseal dysplasia
(MONDO_0100510)
|
Moderate
|
|
|
CCN2
(HGNC:2500)
|
kyphomelic dysplasia
(MONDO_0008881)
|
Moderate
|
|
|
COA3
(HGNC:24990)
|
cytochrome-c oxidase deficiency disease
(MONDO_0009068)
|
Limited
|
|
|
NPRL2
(HGNC:24969)
|
focal epilepsy
(MONDO_0005384)
|
Moderate
|
|
|
NPRL2
(HGNC:24969)
|
familial focal epilepsy with variable foci
(MONDO_0020310)
|
Limited
|
|
|
CTBP1
(HGNC:2494)
|
hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
(MONDO_0060666)
|
Strong
|
|
|
ZC4H2
(HGNC:24931)
|
Wieacker-Wolff syndrome, female-restricted
(MONDO_0026762)
|
Moderate
|
|
|
NKX2-5
(HGNC:2488)
|
tetralogy of fallot
(MONDO_0008542)
|
Limited
|
|
|
NKX2-5
(HGNC:2488)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Moderate
|
|
|
MOGS
(HGNC:24862)
|
MOGS-congenital disorder of glycosylation
(MONDO_0011629)
|
Strong
|
|
|
MFF
(HGNC:24858)
|
encephalopathy due to defective mitochondrial and peroxisomal fission 2
(MONDO_0014905)
|
Limited
|
|
|
MFF
(HGNC:24858)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
GAS2L2
(HGNC:24846)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Limited
|
|
|
CSTA
(HGNC:2481)
|
exfoliative ichthyosis
(MONDO_0017339)
|
Limited
|
|
|
CSTA
(HGNC:2481)
|
acral peeling skin syndrome
(MONDO_0012345)
|
Moderate
|
|