|
MCCC1
(HGNC:6936)
|
3-methylcrotonyl-CoA carboxylase deficiency
(MONDO_0018950)
|
Definitive
|
|
|
MC4R
(HGNC:6932)
|
inherited obesity
(MONDO_0019182)
|
Definitive
|
|
|
MC4R
(HGNC:6932)
|
obesity due to melanocortin 4 receptor deficiency
(MONDO_0019115)
|
Strong
|
|
|
MATR3
(HGNC:6912)
|
distal myopathy with vocal cord weakness
(MONDO_0018951)
|
Limited
|
|
|
MASP1
(HGNC:6901)
|
3MC syndrome
(MONDO_0017398)
|
Strong
|
|
|
MAT1A
(HGNC:6903)
|
methionine adenosyltransferase deficiency
(MONDO_0009607)
|
Definitive
|
|
|
ABCD4
(HGNC:68)
|
methylmalonic acidemia with homocystinuria, type cblJ
(MONDO_0013925)
|
Moderate
|
|
|
MATN3
(HGNC:6909)
|
multiple epiphyseal dysplasia type 5
(MONDO_0011765)
|
Strong
|
|
|
MARS1
(HGNC:6898)
|
severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
(MONDO_0014206)
|
Moderate
|
|
|
MARS1
(HGNC:6898)
|
Charcot-Marie-Tooth disease axonal type 2U
(MONDO_0014566)
|
Limited
|
|
|
MAPT
(HGNC:6893)
|
semantic dementia
(MONDO_0010857)
|
Limited
|
|
|
MAPT
(HGNC:6893)
|
Pick disease
(MONDO_0008243)
|
Strong
|
|
|
MAPKAPK5
(HGNC:6889)
|
neurocardiofaciodigital syndrome
(MONDO_0859247)
|
Moderate
|
|
|
MAPKAPK3
(HGNC:6888)
|
patterned macular dystrophy 3
(MONDO_0014920)
|
Limited
|
|
|
ARHGEF6
(HGNC:685)
|
X-linked intellectual disability
(MONDO_0100284)
|
Limited
|
|
|
ARHGEF6
(HGNC:685)
|
congenital anomaly of kidney and urinary tract
(MONDO_0019719)
|
Moderate
|
|
|
MAP3K7
(HGNC:6859)
|
frontometaphyseal dysplasia 2
(MONDO_0014935)
|
Moderate
|
|
|
MAP3K7
(HGNC:6859)
|
frontometaphyseal dysplasia
(MONDO_0015942)
|
Strong
|
|
|
MAP3K7
(HGNC:6859)
|
cardiospondylocarpofacial syndrome
(MONDO_0008005)
|
Strong
|
|
|
MAP3K6
(HGNC:6858)
|
hereditary diffuse gastric adenocarcinoma
(MONDO_0007648)
|
Disputed
|
|