|
FAM20A
(HGNC:23015)
|
amelogenesis imperfecta type 1G
(MONDO_0008771)
|
Definitive
|
|
|
FAM20B
(HGNC:23017)
|
Desbuquois dysplasia
(MONDO_0015426)
|
Limited
|
|
|
CPA1
(HGNC:2296)
|
hereditary chronic pancreatitis
(MONDO_0008185)
|
Limited
|
|
|
PEX26
(HGNC:22965)
|
Zellweger spectrum disorders
(MONDO_0019609)
|
Strong
|
|
|
MED13L
(HGNC:22962)
|
congenital heart disease
(MONDO_0005453)
|
Moderate
|
|
|
POGLUT1
(HGNC:22954)
|
autosomal recessive limb-girdle muscular dystrophy type 2R1
(MONDO_0014977)
|
Strong
|
|
|
MED13L
(HGNC:22962)
|
syndromic intellectual disability
(MONDO_0000508)
|
Strong
|
|
|
POGLUT1
(HGNC:22954)
|
Dowling-Degos disease
(MONDO_0008371)
|
Strong
|
|
|
COX8A
(HGNC:2294)
|
cytochrome-c oxidase deficiency disease
(MONDO_0009068)
|
Limited
|
|
|
GMPPB
(HGNC:22932)
|
autosomal recessive limb-girdle muscular dystrophy type 2T
(MONDO_0014142)
|
Strong
|
|
|
GMPPA
(HGNC:22923)
|
triple-A syndrome
(MONDO_0009279)
|
Limited
|
|
|
GMPPA
(HGNC:22923)
|
alacrima, achalasia, and intellectual disability syndrome
(MONDO_0014219)
|
Moderate
|
|
|
COX4I1
(HGNC:2265)
|
cytochrome-c oxidase deficiency disease
(MONDO_0009068)
|
Moderate
|
|
|
COX5A
(HGNC:2267)
|
cytochrome-c oxidase deficiency disease
(MONDO_0009068)
|
Limited
|
|
|
COX15
(HGNC:2263)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
COX10
(HGNC:2260)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
COX10
(HGNC:2260)
|
cytochrome-c oxidase deficiency disease
(MONDO_0009068)
|
Strong
|
|
|
COX10
(HGNC:2260)
|
Leigh syndrome
(MONDO_0009723)
|
Moderate
|
|
|
CORO1A
(HGNC:2252)
|
severe combined immunodeficiency due to CORO1A deficiency
(MONDO_0014168)
|
Strong
|
|
|
COMP
(HGNC:2227)
|
multiple epiphyseal dysplasia type 1
(MONDO_0007561)
|
Moderate
|
|