|
APEX1
(HGNC:587)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
APC
(HGNC:583)
|
Cenani-Lenz syndactyly syndrome
(MONDO_0008931)
|
Limited
|
|
|
APC
(HGNC:583)
|
desmoid tumor
(MONDO_0007608)
|
Definitive
|
|
|
APC
(HGNC:583)
|
sarcoma
(MONDO_0005089)
|
Disputed
|
|
|
ABCC6
(HGNC:57)
|
arterial calcification, generalized, of infancy, 2
(MONDO_0013768)
|
Limited
|
|
|
AP4S1
(HGNC:575)
|
hereditary spastic paraplegia 52
(MONDO_0013552)
|
Strong
|
|
|
AP4M1
(HGNC:574)
|
hereditary spastic paraplegia 50
(MONDO_0013048)
|
Strong
|
|
|
AP4B1
(HGNC:572)
|
hereditary spastic paraplegia 47
(MONDO_0013551)
|
Strong
|
|
|
AP4E1
(HGNC:573)
|
hereditary spastic paraplegia 51
(MONDO_0013401)
|
Moderate
|
|
|
RBPJ
(HGNC:5724)
|
Adams-Oliver syndrome
(MONDO_0007034)
|
Strong
|
|
|
AP2S1
(HGNC:565)
|
familial hypocalciuric hypercalcemia 3
(MONDO_0010926)
|
Strong
|
|
|
AP1S2
(HGNC:560)
|
fried syndrome
(MONDO_0019428)
|
Moderate
|
|
|
AP1S2
(HGNC:560)
|
syndromic X-linked intellectual disability 5
(MONDO_0010574)
|
Strong
|
|
|
AP1S2
(HGNC:560)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
AP1B1
(HGNC:554)
|
MEDNIK syndrome
(MONDO_0012251)
|
Moderate
|
|
|
AP1B1
(HGNC:554)
|
ichthyosiform erythroderma, corneal involvement, and hearing loss
(MONDO_0009440)
|
Moderate
|
|
|
IGHMBP2
(HGNC:5542)
|
Charcot-Marie-Tooth disease axonal type 2S
(MONDO_0014511)
|
Strong
|
|
|
IGFBP7
(HGNC:5476)
|
familial retinal arterial macroaneurysm
(MONDO_0013640)
|
Limited
|
|
|
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
|
|