|
TRAF7
(HGNC:20456)
|
cardiac, facial, and digital anomalies with developmental delay
(MONDO_0032572)
|
Strong
|
|
|
BRIP1
(HGNC:20473)
|
familial ovarian cancer
(MONDO_0016248)
|
Moderate
|
|
|
NME7
(HGNC:20461)
|
situs inversus
(MONDO_0010029)
|
Limited
|
|
|
POLR1B
(HGNC:20454)
|
Treacher-Collins syndrome
(MONDO_0002457)
|
Moderate
|
|
|
UPF3B
(HGNC:20439)
|
X-linked intellectual disability with marfanoid habitus
(MONDO_0010655)
|
Moderate
|
|
|
SPATA7
(HGNC:20423)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Strong
|
|
|
SPATA7
(HGNC:20423)
|
retinitis pigmentosa
(MONDO_0019200)
|
Limited
|
|
|
POLR1D
(HGNC:20422)
|
Treacher-Collins syndrome
(MONDO_0002457)
|
Strong
|
|
|
CLDN19
(HGNC:2040)
|
renal hypomagnesemia 5 with ocular involvement
(MONDO_0009548)
|
Strong
|
|
|
CLDN2
(HGNC:2041)
|
hereditary chronic pancreatitis
(MONDO_0008185)
|
Limited
|
|
|
NDUFB11
(HGNC:20372)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
NDUFA11
(HGNC:20371)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Moderate
|
|
|
CLDN14
(HGNC:2035)
|
autosomal recessive nonsyndromic hearing loss 29
(MONDO_0013537)
|
Moderate
|
|
|
CLDN1
(HGNC:2032)
|
neonatal ichthyosis-sclerosing cholangitis syndrome
(MONDO_0011874)
|
Strong
|
|
|
VIPAS39
(HGNC:20347)
|
arthrogryposis-renal dysfunction-cholestasis syndrome
(MONDO_0017123)
|
Strong
|
|
|
CLDN10
(HGNC:2033)
|
HELIX syndrome
(MONDO_0060564)
|
Strong
|
|
|
SLITRK1
(HGNC:20297)
|
Tourette syndrome
(MONDO_0007661)
|
Limited
|
|
|
TRIT1
(HGNC:20286)
|
combined oxidative phosphorylation deficiency 35
(MONDO_0054742)
|
Strong
|
|
|
TRIT1
(HGNC:20286)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
NUBPL
(HGNC:20278)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Strong
|
|