Phenotype: Respiratory arrest (HP:0005943)
Associated genes and diseases:
gene_symbol: HTRA2
disease_id: OMIM:617248
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
gene_symbol: SLC5A7
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: MYO9A
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: COL13A1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: CHAT
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SLC25A1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: VAMP1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: AGRN
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SYT2
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SLC18A3
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SNAP25
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: MTFMT
disease_id: OMIM:614947
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
gene_symbol: SLC6A5
disease_id: OMIM:614618
disease_name: HYPEREKPLEXIA 3
gene_symbol: ACADVL
disease_id: OMIM:201475
disease_name: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF
gene_symbol: DCTN1
disease_id: OMIM:168605
disease_name: PERRY SYNDROME
gene_symbol: AFF3
disease_id: OMIM:619297
disease_name: KINSSHIP SYNDROME
gene_symbol: CPT2
disease_id: OMIM:600649
disease_name: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
gene_symbol: SCO2
disease_id: OMIM:604377
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: KIT
disease_id: ORPHA:280785
disease_name: Bullous diffuse cutaneous mastocytosis
Bullous DCM
gene_symbol: TSPYL1
disease_id: OMIM:608800
disease_name: SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME
gene_symbol: MYL2
disease_id: OMIM:619424
disease_name: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY
gene_symbol: GPX4
disease_id: ORPHA:93317
disease_name: Spondylometaphyseal dysplasia, Sedaghatian type
gene_symbol: SLC25A20
disease_id: OMIM:212138
disease_name: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
gene_symbol: GET3
disease_id: OMIM:620203
disease_name: CARDIOMYOPATHY, DILATED, 2H
gene_symbol: ADGRG6
disease_id: OMIM:616503
disease_name: LETHAL CONGENITAL CONTRACTURE SYNDROME 9
gene_symbol: TXNDC15
disease_id: OMIM:619879
disease_name: MECKEL SYNDROME 14
gene_symbol: DDC
disease_id: OMIM:608643
disease_name: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
gene_symbol: SLC2A10
disease_id: ORPHA:3342
disease_name: Arterial tortuosity syndrome
ATS
gene_symbol: COL2A1
disease_id: ORPHA:93296
disease_name: Achondrogenesis type 2
Achondrogenesis, Langer-Saldino type
gene_symbol: LAMP2
disease_id: ORPHA:34587
disease_name: Danon disease
GSD due to LAMP-2 deficiency
GSD, type 2B
GSD, type IIb
Glycogen storage disease due to LAMP-2 deficiency
Glycogen storage disease, type 2B
Glycogen storage disease, type IIb
Glycogenosis due to LAMP-2 deficiency
Lysosomal glycogen storage disease with normal acid maltase activity