Índice de enfermedades genéticas ofrecidas por AC Gen Reading Life

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Enfermedad/Phenotype	Phenotype MIM number	Simbolo del Gen	Nombre del Gen
Heart block, nonprogressive	113900	SCN5A	sodium channel, voltage-gated, type V, alpha subunit
Heart block, progressive, type IA	113900	SCN5A	sodium channel, voltage-gated, type V, alpha subunit
Heart-hand syndrome, Slovenian type	610140	LMNA	lamin A/C
Heinz body
Heinz body anemia	140700	HBA2	hemoglobin, alpha 2
Heinz body anemias, beta-	140700	HBB	hemoglobin, beta
Hemangioblastoma, cerebellar, somatic		VHL	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
Hemochromatosis	235200	HFE	hemochromatosis
Hemoglobin H disease, nondeletional	613978	HBA2	hemoglobin, alpha 2
Hemophilia
Hemophilia A	306700	F8	coagulation factor VIII, procoagulant component
Hemophilia B	306900	F9	coagulation factor IX
Hemorrhage, intracerebral, susceptibility to	614519	COL4A1	collagen, type IV, alpha 1
Hemorrhagic diathesis due to \'antithrombin\' Pittsburgh	613490	SERPINA1	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
Hepatoblastoma, somatic	114550	APC	adenomatous polyposis coli
Hepatocellular carcinoma	114550	TP53	tumor protein p53
Hereditary motor and sensory neuropathy VI	601152	MFN2	mitofusin 2
Hereditary persistence of fetal hemoglobin	141749	HBB	hemoglobin, beta
Hex A pseudodeficiency	272800	HEXA	hexosaminidase A (alpha polypeptide)
Hirschsprung disease, susceptibility to, 1	142623	RET	ret proto-oncogene
Holoprosencephaly-7	610828	PTCH1	patched 1
Holt-Oram syndrome	142900	TBX5	T-box 5
Hoyeraal-Hreidarsson syndrome	300240	DKC1	dyskeratosis congenita 1, dyskerin
Hutchinson-Gilford progeria	176670	LMNA	lamin A/C
Hydrocephalus due to aqueductal stenosis	307000	L1CAM	L1 cell adhesion molecule
Hydrocephalus with congenital idiopathic intestinal pseudoobstruction	307000	L1CAM	L1 cell adhesion molecule
Hydrocephalus with Hirschsprung disease	307000	L1CAM	L1 cell adhesion molecule
Hyperphenylalaninemia, non-PKU mild	261600	PAH	phenylalanine hydroxylase
Hypertrichotic osteochondrodysplasia	239850	ABCC9	ATP-binding cassette, sub-family C (CFTR/MRP), member 9
Hypertrypsinemia, neonatal		CFTR	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
Hypochondroplasia	146000	FGFR3	fibroblast growth factor receptor 3
Hypochromic microcytic anemia		HBA2	hemoglobin, alpha 2
Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 2 with or without anosmia	147950	FGFR1	fibroblast growth factor receptor 1
Hypogonadotropic hypogonadism 5 with or without anosmia	612370	CHD7	chromodomain helicase DNA binding protein 7
Hypophosphatasia, adult	146300	ALPL	alkaline phosphatase, liver/bone/kidney
Hypophosphatasia, childhood	241510	ALPL	alkaline phosphatase, liver/bone/kidney
Hypophosphatasia, infantile	241500	ALPL	alkaline phosphatase, liver/bone/kidney
Hypoplastic left heart syndrome 2	614435	NKX2-5	NK2 homeobox 5
Hypothyroidism, congenital nongoitrous, 5	225250	NKX2-5	NK2 homeobox 5
Hypotrichosis, hereditary, Marie Unna type, 1	146550	HR	hair growth associated
Hystrix-like ichthyosis with deafness	602540	GJB2	gap junction protein, beta 2, 26kDa
Inclusion body myopathy, autosomal recessive	600737	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Insensitivity to pain, channelopathy-associated	243000	SCN9A	sodium channel, voltage-gated, type IX, alpha subunit
IVIC syndrome	147750	SALL4	sal-like 4 (Drosophila)