|
DCLRE1C
(HGNC:17642)
|
Omenn syndrome
(MONDO_0011338)
|
Strong
|
|
|
DACT1
(HGNC:17748)
|
Townes-Brocks syndrome
(MONDO_0007142)
|
Limited
|
|
|
CDC6
(HGNC:1744)
|
Meier-Gorlin syndrome
(MONDO_0016817)
|
Moderate
|
|
|
IL17RD
(HGNC:17616)
|
Kallmann syndrome
(MONDO_0018800)
|
Limited
|
|
|
CDH3
(HGNC:1762)
|
EEM syndrome
(MONDO_0009155)
|
Moderate
|
|
|
ZNF674
(HGNC:17625)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
NDE1
(HGNC:17619)
|
NDE1-related microhydranencephaly
(MONDO_0011504)
|
Strong
|
|
|
ZNF674
(HGNC:17625)
|
X-linked intellectual disability
(MONDO_0100284)
|
Limited
|
|
|
ACVRL1
(HGNC:175)
|
telangiectasia, hereditary hemorrhagic, type 2
(MONDO_0010880)
|
Definitive
|
|
|
CDH2
(HGNC:1759)
|
agenesis of corpus callosum, cardiac, ocular, and genital syndrome
(MONDO_0030065)
|
Strong
|
|
|
KAT6B
(HGNC:17582)
|
RASopathy
(MONDO_0021060)
|
Disputed
|
|
|
SPEN
(HGNC:17575)
|
Radio-Tartaglia syndrome
(MONDO_0859143)
|
Limited
|
|
|
CDH2
(HGNC:1759)
|
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
|
Limited
|
|
|
CDH1
(HGNC:1748)
|
hereditary diffuse gastric adenocarcinoma
(MONDO_0007648)
|
Strong
|
|
|
CDC6
(HGNC:1744)
|
Meier-Gorlin syndrome 5
(MONDO_0013432)
|
Limited
|
|
|
CDH15
(HGNC:1754)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
CLCF1
(HGNC:17412)
|
cold-induced sweating syndrome
(MONDO_0015526)
|
Moderate
|
|
|
HOMER2
(HGNC:17513)
|
nonsyndromic genetic hearing loss
(MONDO_0019497)
|
Moderate
|
|
|
TPK1
(HGNC:17358)
|
Leigh syndrome
(MONDO_0009723)
|
Moderate
|
|
|
CDC45
(HGNC:1739)
|
Meier-Gorlin syndrome 7
(MONDO_0014894)
|
Limited
|
|