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pankajrajdeo
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ontologies_genes_to_phenotype_JAX

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train · 309k rows

ncbi_gene_id stringlengths 2 9	gene_symbol stringlengths 1 10	hpo_id stringlengths 10 10	hpo_name stringlengths 4 110	frequency stringlengths 1 10	disease_id stringlengths 7 12
10	NAT2	HP:0000007	Autosomal recessive inheritance	-	OMIM:243400
10	NAT2	HP:0001939	Abnormality of metabolism/homeostasis	-	OMIM:243400
16	AARS1	HP:0002460	Distal muscle weakness	15/15	OMIM:613287
16	AARS1	HP:0002451	Limb dystonia	3/3	OMIM:616339
16	AARS1	HP:0008619	Bilateral sensorineural hearing impairment	HP:0040283	ORPHA:33364
16	AARS1	HP:0001197	Abnormality of prenatal development or birth	HP:0040283	ORPHA:33364
16	AARS1	HP:0410219	Hypoplasia of mandible relative to maxilla	HP:0040283	ORPHA:33364
16	AARS1	HP:0007266	Cerebral dysmyelination	HP:0040283	ORPHA:33364
16	AARS1	HP:0007256	Abnormal pyramidal sign	HP:0040283	ORPHA:33364
16	AARS1	HP:0010871	Sensory ataxia	1/2	OMIM:619661
16	AARS1	HP:0009886	Trichorrhexis nodosa	1/2	OMIM:619691
16	AARS1	HP:0002421	Poor head control	HP:0040283	ORPHA:442835
16	AARS1	HP:0001298	Encephalopathy	HP:0040281	ORPHA:442835
16	AARS1	HP:0001290	Generalized hypotonia	HP:0040282	ORPHA:442835
16	AARS1	HP:0001290	Generalized hypotonia	HP:0040283	ORPHA:33364
16	AARS1	HP:0001276	Hypertonia	HP:0040283	ORPHA:33364
16	AARS1	HP:0001273	Abnormal corpus callosum morphology	HP:0040283	ORPHA:442835
16	AARS1	HP:0001268	Mental deterioration	HP:0040283	ORPHA:442835
16	AARS1	HP:0001268	Mental deterioration	2/2	OMIM:619661
16	AARS1	HP:0002599	Head titubation	1/2	OMIM:619691
16	AARS1	HP:0001284	Areflexia	3/3	OMIM:616339
16	AARS1	HP:0001284	Areflexia	1/2	OMIM:619691
16	AARS1	HP:0001284	Areflexia	-	OMIM:613287
16	AARS1	HP:0001250	Seizure	HP:0040282	ORPHA:442835
16	AARS1	HP:0001251	Ataxia	HP:0040283	ORPHA:442835
16	AARS1	HP:0001249	Intellectual disability	HP:0040282	ORPHA:442835
16	AARS1	HP:0001265	Hyporeflexia	HP:0040282	ORPHA:442835
16	AARS1	HP:0001265	Hyporeflexia	HP:0040283	ORPHA:33364
16	AARS1	HP:0001265	Hyporeflexia	3/7	OMIM:613287
16	AARS1	HP:0001264	Spastic diplegia	1/2	OMIM:619691
16	AARS1	HP:0001260	Dysarthria	HP:0040283	ORPHA:33364
16	AARS1	HP:0001263	Global developmental delay	2/2	OMIM:619691
16	AARS1	HP:0001263	Global developmental delay	HP:0040282	ORPHA:442835
16	AARS1	HP:0001263	Global developmental delay	HP:0040283	ORPHA:33364
16	AARS1	HP:0001263	Global developmental delay	3/3	OMIM:616339
16	AARS1	HP:0001257	Spasticity	3/3	OMIM:616339
16	AARS1	HP:0001257	Spasticity	HP:0040283	ORPHA:442835
16	AARS1	HP:0001257	Spasticity	HP:0040283	ORPHA:33364
16	AARS1	HP:0001257	Spasticity	1/2	OMIM:619691
16	AARS1	HP:0002562	Low-set nipples	HP:0040283	ORPHA:33364
16	AARS1	HP:0100876	Infra-orbital crease	1/2	OMIM:619691
16	AARS1	HP:0007381	Congenital exfoliative erythroderma	HP:0040283	ORPHA:33364
16	AARS1	HP:0007340	Lower limb muscle weakness	4/7	OMIM:613287
16	AARS1	HP:0001217	Clubbing	HP:0040283	ORPHA:33364
16	AARS1	HP:0002521	Hypsarrhythmia	HP:0040283	ORPHA:442835
16	AARS1	HP:0002509	Limb hypertonia	HP:0040284	ORPHA:442835
16	AARS1	HP:0001373	Joint dislocation	HP:0040283	ORPHA:33364
16	AARS1	HP:0001363	Craniosynostosis	HP:0040283	ORPHA:33364
16	AARS1	HP:0000028	Cryptorchidism	HP:0040283	ORPHA:33364
16	AARS1	HP:0007495	Prematurely aged appearance	HP:0040283	ORPHA:33364
16	AARS1	HP:0007485	Absence of subcutaneous fat	HP:0040283	ORPHA:33364
16	AARS1	HP:0001332	Dystonia	1/2	OMIM:619661
16	AARS1	HP:0001338	Partial agenesis of the corpus callosum	HP:0040283	ORPHA:33364
16	AARS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:619691
16	AARS1	HP:0000007	Autosomal recessive inheritance	-	OMIM:616339
16	AARS1	HP:0001337	Tremor	HP:0040283	ORPHA:442835
16	AARS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:619661
16	AARS1	HP:0000006	Autosomal dominant inheritance	-	OMIM:613287
16	AARS1	HP:0001336	Myoclonus	HP:0040283	ORPHA:442835
16	AARS1	HP:0001315	Reduced tendon reflexes	HP:0040283	ORPHA:442835
16	AARS1	HP:0012196	Cheyne-Stokes respiration	1/2	OMIM:619661
16	AARS1	HP:0012179	Craniofacial dystonia	1/2	OMIM:619691
16	AARS1	HP:0007633	Bilateral microphthalmos	HP:0040283	ORPHA:33364
16	AARS1	HP:0008936	Axial hypotonia	2/3	OMIM:616339
16	AARS1	HP:0008944	Distal lower limb amyotrophy	4/7	OMIM:613287
16	AARS1	HP:0002705	High, narrow palate	HP:0040283	ORPHA:33364
16	AARS1	HP:0006297	Enamel hypoplasia	HP:0040283	ORPHA:33364
16	AARS1	HP:0007587	Numerous pigmented freckles	HP:0040283	ORPHA:33364
16	AARS1	HP:0000133	Gonadal dysgenesis	HP:0040283	ORPHA:33364
16	AARS1	HP:0002750	Delayed skeletal maturation	HP:0040283	ORPHA:33364
16	AARS1	HP:0002719	Recurrent infections	HP:0040283	ORPHA:33364
16	AARS1	HP:0002020	Gastroesophageal reflux	HP:0040283	ORPHA:442835
16	AARS1	HP:0030903	Grasp reflex	1/2	OMIM:619661
16	AARS1	HP:0002080	Intention tremor	HP:0040283	ORPHA:33364
16	AARS1	HP:0002066	Gait ataxia	HP:0040283	ORPHA:33364
16	AARS1	HP:0002063	Rigidity	HP:0040283	ORPHA:442835
16	AARS1	HP:0002063	Rigidity	2/2	OMIM:619661
16	AARS1	HP:0002072	Chorea	3/3	OMIM:616339
16	AARS1	HP:0002059	Cerebral atrophy	3/3	OMIM:616339
16	AARS1	HP:0002059	Cerebral atrophy	HP:0040283	ORPHA:442835
16	AARS1	HP:0003477	Peripheral axonal neuropathy	-	OMIM:613287
16	AARS1	HP:0003487	Babinski sign	1/2	OMIM:619691
16	AARS1	HP:0002120	Cerebral cortical atrophy	HP:0040283	ORPHA:33364
16	AARS1	HP:0002119	Ventriculomegaly	HP:0040283	ORPHA:33364
16	AARS1	HP:0002133	Status epilepticus	HP:0040284	ORPHA:442835
16	AARS1	HP:0003431	Decreased motor nerve conduction velocity	-	OMIM:613287
16	AARS1	HP:0003429	CNS hypomyelination	2/3	OMIM:616339
16	AARS1	HP:0003438	Absent Achilles reflex	4/7	OMIM:613287
16	AARS1	HP:0002188	Delayed CNS myelination	1/2	OMIM:619691
16	AARS1	HP:0002197	Generalized-onset seizure	HP:0040283	ORPHA:33364
16	AARS1	HP:0010551	Paraplegia/paraparesis	HP:0040283	ORPHA:33364
16	AARS1	HP:0003596	Middle age onset	2/17	OMIM:613287
16	AARS1	HP:0003593	Infantile onset	2/3	OMIM:616339
16	AARS1	HP:0003593	Infantile onset	2/2	OMIM:619691
16	AARS1	HP:0003577	Congenital onset	11/13	OMIM:616339
16	AARS1	HP:0003581	Adult onset	2/2	OMIM:619661
16	AARS1	HP:0100710	Impulsivity	HP:0040283	ORPHA:442835
16	AARS1	HP:0002224	Woolly hair	2/2	OMIM:619691
16	AARS1	HP:0002209	Sparse scalp hair	HP:0040283	ORPHA:33364
16	AARS1	HP:0200134	Epileptic encephalopathy	-	OMIM:616339

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