|
COLEC11
(HGNC:17213)
|
3MC syndrome
(MONDO_0017398)
|
Strong
|
|
|
AGTPBP1
(HGNC:17258)
|
pontocerebellar hypoplasia type 1
(MONDO_0016396)
|
Moderate
|
|
|
POLR1A
(HGNC:17264)
|
acrofacial dysostosis Cincinnati type
(MONDO_0014651)
|
Strong
|
|
|
CHSY1
(HGNC:17198)
|
temtamy preaxial brachydactyly syndrome
(MONDO_0011533)
|
Moderate
|
|
|
DHX37
(HGNC:17210)
|
46,XY complete gonadal dysgenesis
(MONDO_0010765)
|
Strong
|
|
|
ACVR1
(HGNC:171)
|
congenital heart disease
(MONDO_0005453)
|
Limited
|
|
|
NDUFA13
(HGNC:17194)
|
mitochondrial complex 1 deficiency, nuclear type 28
(MONDO_0032632)
|
Strong
|
|
|
CDC14A
(HGNC:1718)
|
autosomal recessive nonsyndromic hearing loss 32
(MONDO_0012091)
|
Moderate
|
|
|
RAB3GAP2
(HGNC:17168)
|
Warburg micro syndrome 2
(MONDO_0013641)
|
Moderate
|
|
|
ORC6
(HGNC:17151)
|
Meier-Gorlin syndrome
(MONDO_0016817)
|
Strong
|
|
|
OPTN
(HGNC:17142)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Strong
|
|
|
CDAN1
(HGNC:1713)
|
congenital dyserythropoietic anemia
(MONDO_0019403)
|
Definitive
|
|
|
CDAN1
(HGNC:1713)
|
congenital dyserythropoietic anemia type 1
(MONDO_0020337)
|
Definitive
|
|
|
ADAMTS17
(HGNC:17109)
|
Weill-Marchesani 4 syndrome, recessive
(MONDO_0013176)
|
Strong
|
|
|
TNPO3
(HGNC:17103)
|
autosomal dominant limb-girdle muscular dystrophy type 1F
(MONDO_0012034)
|
Strong
|
|
|
CDON
(HGNC:17104)
|
pituitary stalk interruption syndrome
(MONDO_0019828)
|
Limited
|
|
|
SUZ12
(HGNC:17101)
|
Weaver syndrome
(MONDO_0010193)
|
Strong
|
|
|
SUZ12
(HGNC:17101)
|
Imagawa-Matsumoto syndrome
(MONDO_0032916)
|
Moderate
|
|
|
DICER1
(HGNC:17098)
|
global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
(MONDO_0018445)
|
Moderate
|
|
|
RAB3GAP1
(HGNC:17063)
|
Warburg micro syndrome 1
(MONDO_0010822)
|
Strong
|
|