|
ERBB2
(HGNC:3430)
|
Hirschsprung disease
(MONDO_0018309)
|
Limited
|
|
|
ERBB2
(HGNC:3430)
|
lung cancer
(MONDO_0008903)
|
Strong
|
|
|
ERAL1
(HGNC:3424)
|
Perrault syndrome
(MONDO_0017312)
|
Limited
|
|
|
EPOR
(HGNC:3416)
|
primary familial polycythemia due to EPO receptor mutation
(MONDO_0007572)
|
Strong
|
|
|
EPHX2
(HGNC:3402)
|
hypercholesterolemia, familial, 1
(MONDO_0007750)
|
Limited
|
|
|
EPHB4
(HGNC:3395)
|
capillary malformation-arteriovenous malformation syndrome
(MONDO_0012016)
|
Strong
|
|
|
EPHB4
(HGNC:3395)
|
capillary malformation-arteriovenous malformation 2
(MONDO_0020785)
|
Strong
|
|
|
SDHAF1
(HGNC:33867)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
EPB42
(HGNC:3381)
|
hereditary spherocytosis
(MONDO_0019350)
|
Strong
|
|
|
EPB41
(HGNC:3377)
|
hereditary elliptocytosis
(MONDO_0017319)
|
Moderate
|
|
|
EP300
(HGNC:3373)
|
Rubinstein-Taybi syndrome
(MONDO_0019188)
|
Definitive
|
|
|
EP300
(HGNC:3373)
|
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
(MONDO_0013364)
|
Strong
|
|
|
CFAP221
(HGNC:33720)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Moderate
|
|
|
MICOS13
(HGNC:33702)
|
mitochondrial disease
(MONDO_0044970)
|
Limited
|
|
|
ENPP1
(HGNC:3356)
|
arterial calcification of infancy
(MONDO_0018870)
|
Definitive
|
|
|
PATL2
(HGNC:33630)
|
oocyte maturation defect 4
(MONDO_0021575)
|
Strong
|
|
|
ENPP1
(HGNC:3356)
|
autosomal recessive hypophosphatemic rickets
(MONDO_0017324)
|
Strong
|
|
|
ENPP1
(HGNC:3356)
|
hypopigmentation-punctate palmoplantar keratoderma syndrome
(MONDO_0014227)
|
Strong
|
|
|
ENPP1
(HGNC:3356)
|
hypophosphatemic rickets, autosomal recessive, 2
(MONDO_0013219)
|
Strong
|
|
|
ENPP1
(HGNC:3356)
|
autosomal recessive inherited pseudoxanthoma elasticum
(MONDO_0009925)
|
Moderate
|
|