|
CASP8
(HGNC:1509)
|
autoimmune lymphoproliferative syndrome type 2B
(MONDO_0011804)
|
Limited
|
|
|
GPR101
(HGNC:14963)
|
acromegaly
(MONDO_0019933)
|
Limited
|
|
|
SNX14
(HGNC:14977)
|
autosomal recessive spinocerebellar ataxia 20
(MONDO_0014601)
|
Strong
|
|
|
POFUT1
(HGNC:14988)
|
Dowling-Degos disease
(MONDO_0008371)
|
Moderate
|
|
|
CASK
(HGNC:1497)
|
syndromic X-linked intellectual disability Najm type
(MONDO_0010417)
|
Strong
|
|
|
PIGT
(HGNC:14938)
|
multiple congenital anomalies-hypotonia-seizures syndrome 3
(MONDO_0014165)
|
Strong
|
|
|
PUM1
(HGNC:14957)
|
spinocerebellar ataxia 47
(MONDO_0033482)
|
Moderate
|
|
|
DNAJB11
(HGNC:14889)
|
autosomal dominant polycystic kidney disease
(MONDO_0004691)
|
Strong
|
|
|
SPTBN4
(HGNC:14896)
|
neurodevelopmental disorder with hypotonia, neuropathy, and deafness
(MONDO_0060496)
|
Strong
|
|
|
DNAJB6
(HGNC:14888)
|
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
(MONDO_0021018)
|
Strong
|
|
|
COG5
(HGNC:14857)
|
COG5-congenital disorder of glycosylation
(MONDO_0013325)
|
Moderate
|
|
|
CAPN3
(HGNC:1480)
|
muscular dystrophy, limb-girdle, autosomal dominant 4
(MONDO_0029133)
|
Moderate
|
|
|
CAPN3
(HGNC:1480)
|
muscular dystrophy, limb-girdle, autosomal dominant
(MONDO_0015151)
|
Moderate
|
|
|
CAPN1
(HGNC:1476)
|
autosomal recessive spastic paraplegia type 76
(MONDO_0014827)
|
Strong
|
|
|
CAPN3
(HGNC:1480)
|
autosomal recessive limb-girdle muscular dystrophy
(MONDO_0015152)
|
Definitive
|
|
|
DEAF1
(HGNC:14677)
|
intellectual disability, autosomal dominant 24
(MONDO_0014357)
|
Strong
|
|
|
PCDH15
(HGNC:14674)
|
autosomal recessive nonsyndromic hearing loss 23
(MONDO_0012293)
|
Moderate
|
|
|
PCDH15
(HGNC:14674)
|
Usher syndrome type 1F
(MONDO_0011186)
|
Definitive
|
|
|
PCDH15
(HGNC:14674)
|
Usher syndrome type 1
(MONDO_0010168)
|
Strong
|
|
|
ABCA13
(HGNC:14638)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|