|
IGFALS
(HGNC:5468)
|
short stature due to primary acid-labile subunit deficiency
(MONDO_0014420)
|
Strong
|
|
|
IGF1R
(HGNC:5465)
|
growth delay due to insulin-like growth factor I resistance
(MONDO_0010038)
|
Strong
|
|
|
IGF1
(HGNC:5464)
|
growth delay due to insulin-like growth factor type 1 deficiency
(MONDO_0012110)
|
Moderate
|
|
|
IFRD1
(HGNC:5456)
|
spinocerebellar ataxia type 18
(MONDO_0011834)
|
Limited
|
|
|
ABCC2
(HGNC:53)
|
Dubin-Johnson syndrome
(MONDO_0009380)
|
Strong
|
|
|
IFNAR1
(HGNC:5432)
|
immunodeficiency 106, susceptibility to viral infections
(MONDO_0030970)
|
Moderate
|
|
|
IDUA
(HGNC:5391)
|
Hurler-Scheie syndrome
(MONDO_0011759)
|
Definitive
|
|
|
IDUA
(HGNC:5391)
|
Scheie syndrome
(MONDO_0011760)
|
Definitive
|
|
|
IDH3G
(HGNC:5386)
|
retinitis pigmentosa
(MONDO_0019200)
|
Moderate
|
|
|
IDH3B
(HGNC:5385)
|
retinitis pigmentosa
(MONDO_0019200)
|
Moderate
|
|
|
IDH2
(HGNC:5383)
|
D-2-hydroxyglutaric aciduria
(MONDO_0010924)
|
Definitive
|
|
|
IDH1
(HGNC:5382)
|
Maffucci syndrome
(MONDO_0013808)
|
Definitive
|
|
|
ANXA11
(HGNC:535)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Strong
|
|
|
ID2
(HGNC:5361)
|
congenital heart disease
(MONDO_0005453)
|
Limited
|
|
|
ICOS
(HGNC:5351)
|
common variable immunodeficiency
(MONDO_0015517)
|
Strong
|
|
|
NOD2
(HGNC:5331)
|
Blau syndrome
(MONDO_0008523)
|
Definitive
|
|
|
HSPG2
(HGNC:5273)
|
Schwartz-Jampel syndrome type 1
(MONDO_0100435)
|
Definitive
|
|
|
HSPG2
(HGNC:5273)
|
Silverman-Handmaker type dyssegmental dysplasia
(MONDO_0009140)
|
Strong
|
|
|
IARS1
(HGNC:5330)
|
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
(MONDO_0014911)
|
Moderate
|
|
|
HSPB1
(HGNC:5246)
|
distal hereditary motor neuropathy type 2
(MONDO_0015352)
|
Strong
|
|