|
ZNF699
(HGNC:24750)
|
DEGCAGS syndrome
(MONDO_0859181)
|
Limited
|
|
|
LRIT3
(HGNC:24783)
|
congenital stationary night blindness
(MONDO_0016293)
|
Moderate
|
|
|
CST3
(HGNC:2475)
|
ACys amyloidosis
(MONDO_0007098)
|
Strong
|
|
|
FAM111A
(HGNC:24725)
|
osteocraniostenosis
(MONDO_0011215)
|
Strong
|
|
|
NHLRC2
(HGNC:24731)
|
fibrosis, neurodegeneration, and cerebral angiomatosis
(MONDO_0032651)
|
Strong
|
|
|
CSRP3
(HGNC:2472)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Moderate
|
|
|
FAM111A
(HGNC:24725)
|
autosomal dominant Kenny-Caffey syndrome
(MONDO_0007478)
|
Strong
|
|
|
QRICH1
(HGNC:24713)
|
Ververi-Brady syndrome
(MONDO_0060707)
|
Strong
|
|
|
EHMT1
(HGNC:24650)
|
Kleefstra syndrome 1
(MONDO_0027407)
|
Definitive
|
|
|
VPS35L
(HGNC:24641)
|
Ritscher-Schinzel syndrome
(MONDO_0019078)
|
Moderate
|
|
|
SIL1
(HGNC:24624)
|
Marinesco-Sjogren syndrome
(MONDO_0009567)
|
Strong
|
|
|
CSRP3
(HGNC:2472)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Limited
|
|
|
NRROS
(HGNC:24613)
|
seizures, early-onset, with neurodegeneration and brain calcifications
(MONDO_0030033)
|
Moderate
|
|
|
EPS15L1
(HGNC:24634)
|
split hand-foot malformation
(MONDO_0016576)
|
Limited
|
|
|
SMC3
(HGNC:2468)
|
Cornelia de Lange syndrome
(MONDO_0016033)
|
Strong
|
|
|
CFHR5
(HGNC:24668)
|
C3 glomerulonephritis
(MONDO_0013892)
|
Limited
|
|
|
DYNC2LI1
(HGNC:24595)
|
short-rib thoracic dysplasia 15 with polydactyly
(MONDO_0014907)
|
Strong
|
|
|
ANKS1B
(HGNC:24600)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Limited
|
|
|
CSNK2B
(HGNC:2460)
|
Poirier-Bienvenu neurodevelopmental syndrome
(MONDO_0032889)
|
Strong
|
|
|
HYCC1
(HGNC:24587)
|
hypomyelinating leukodystrophy 5
(MONDO_0012514)
|
Strong
|
|