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clinvar_genes_phenos_updated_grouped.txt
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GeneSymbol EntrezID MedGenID Phenotype Grouped
NADK2 133686 CN037048 "2,4-Dienoyl-CoA.reductase.deficiency" "2,4-Dienoyl-CoA.reductase.deficiency"
CYP21A2 1589 C0852654 21-hydroxylase.deficiency 21-hydroxylase.deficiency
SHANK3 85358 C1853490 22q13.3.deletion.syndrome 22q13.3.deletion.syndrome
HSD17B10 3028 C1845517 2-methyl-3-hydroxybutyric.aciduria 2-methyl-3-hydroxybutyric.aciduria
HSD3B2 3284 C0342471 3.beta-Hydroxysteroid.dehydrogenase.deficiency 3.beta-Hydroxysteroid.dehydrogenase.deficiency
MCCC1 56922 CN028786 3.Methylcrotonyl-CoA.carboxylase.1.deficiency 3.Methylcrotonyl-CoA.carboxylase.1.deficiency
AUH 549 C0342727 3-Methylglutaconic.aciduria 3-Methylglutaconic.aciduria
TAZ 6901 C0574083 3-Methylglutaconic.aciduria.type.2 3-Methylglutaconic.aciduria.type.2
OPA3 80207 C0574084 3-Methylglutaconic.aciduria.type.3 3-Methylglutaconic.aciduria.type.3
DNAJC19 131118 C1857776 3-methylglutaconic.aciduria.type.V 3-methylglutaconic.aciduria.type.V
CLPB 81570 CN228597 "3-METHYLGLUTACONIC.ACIDURIA.WITH.CATARACTS,.NEUROLOGIC.INVOLVEMENT,.AND.NEUTROPENIA" "3-METHYLGLUTACONIC.ACIDURIA.WITH.CATARACTS,.NEUROLOGIC.INVOLVEMENT,.AND.NEUTROPENIA"
SERAC1 84947 C3553597 "3-methylglutaconic.aciduria.with.deafness,.encephalopathy,.and.Leigh-like.syndrome" "3-methylglutaconic.aciduria.with.deafness,.encephalopathy,.and.Leigh-like.syndrome"
SRD5A2 6716 C0268297 3-Oxo-5.alpha-steroid.delta.4-dehydrogenase.deficiency 3-Oxo-5.alpha-steroid.delta.4-dehydrogenase.deficiency
SOX9 6662 C2749215 "46,XX.sex.reversal,.type.2" sex.reversal
DHH 50846 CN068862 "46,XY.gonadal.dysgenesis,.complete,.dhh-related" "46,XY.gonadal.dysgenesis,.complete,.dhh-related"
DHH 50846 C2751325 "46,XY.gonadal.dysgenesis,.partial,.with.minifascicular.neuropathy" "46,XY.gonadal.dysgenesis,.partial,.with.minifascicular.neuropathy"
SRY 6736 C2748896 "46,XY.sex.reversal,.type.1" sex.reversal
NR0B1 190 C1848296 "46,XY.sex.reversal,.type.2" sex.reversal
NR5A1 2516 C2751824 "46,XY.sex.reversal,.type.3" sex.reversal
CBX2 84733 C2751317 "46,XY.sex.reversal,.type.5" sex.reversal
MAP3K1 4214 C3151064 "46,XY.sex.reversal,.type.6" sex.reversal
SOX9 6662 CN231316 "46,XY.SEX.REVERSAL.10" sex.reversal
AKR1C2 1646 C1839840 "46,XY.sex.reversal.8" sex.reversal
AKR1C4 1109 C1839840 "46,XY.sex.reversal.8" sex.reversal
ZFPM2 23414 CN220529 "46,XY.sex.reversal.9" sex.reversal
HPD 3242 C2931042 4-Alpha-hydroxyphenylpyruvate.hydroxylase.deficiency 4-Alpha-hydroxyphenylpyruvate.hydroxylase.deficiency
HPD 3242 C0268623 4-Hydroxyphenylpyruvate.dioxygenase.deficiency 4-Hydroxyphenylpyruvate.dioxygenase.deficiency
OPLAH 26873 C0268525 5-Oxoprolinase.deficiency 5-Oxoprolinase.deficiency
PTS 5805 C0878676 6-pyruvoyl-tetrahydropterin.synthase.deficiency 6-pyruvoyl-tetrahydropterin.synthase.deficiency
FGD1 2245 C0175701 Aarskog.syndrome Aarskog.syndrome
RPL5 6125 C0265265 Aase.syndrome Aase.syndrome
HLA-B 3106 C1840547 Abacavir.hypersensitivity Abacavir.hypersensitivity
EDNRB 1910 C1838099 ABCD.syndrome ABCD.syndrome
DYRK1B 9149 CN188185 Abdominal.obesity-metabolic.syndrome.3 Abdominal.obesity-metabolic.syndrome
LIPE 3991 CN219208 Abdominal.obesity-metabolic.syndrome.4 Abdominal.obesity-metabolic.syndrome
MTTP 4547 C0000744 Abetalipoproteinaemia Abetalipoproteinaemia
TWIST2 117581 C1860224 Ablepharon.macrostomia.syndrome Ablepharon.macrostomia.syndrome
TBX22 50945 C1844862 Abruzzo.Erickson.syndrome Abruzzo.Erickson.syndrome
EPG5 57724 C1855772 Absent.corpus.callosum.cataract.immunodeficiency Absent.corpus.callosum.cataract.immunodeficiency
SOX9 6662 C1861923 Acampomelic.campomelic.dysplasia Acampomelic.campomelic.dysplasia
CAT 847 C0268419 Acatalasemia Acatalasemia
CAT 847 C2936847 "Acatalasemia,.japanese.type" "Acatalasemia,.japanese.type"
MDM2 4193 C3280690 "Accelerated.tumor.formation,.susceptibility.to" "Accelerated.tumor.formation,.susceptibility.to"
AAAS 8086 C1856419 Achalasia-alacrima.syndrome Achalasia-alacrima.syndrome
LMBR1 64327 C0265559 Acheiropodia Acheiropodia
TRIP11 9321 C0265273 "Achondrogenesis,.type.IA" "Achondrogenesis,.type.IA"
COL2A1 1280 C0220685 Achondrogenesis.type.2 Achondrogenesis.type.3
FGFR3 2261 C0001080 Achondroplasia Achondroplasia
CNGA3 1261 C1857618 Achromatopsia.2 Achromatopsia
CNGB3 54714 C1849792 Achromatopsia.3 Achromatopsia
GNAT2 2780 C1841721 Achromatopsia.4 Achromatopsia
PDE6C 5146 C2751309 Achromatopsia.5 Achromatopsia
ATF6 22926 CN230068 ACHROMATOPSIA.7 Achromatopsia
GAA 2548 C1847465 "Acid.alpha-glucosidase,.allele.2" "Acid.alpha-glucosidase,.allele.3"
IGFALS 3483 CN069120 Acid-labile.subunit.deficiency Acid-labile.subunit.deficiency
PSENEN 55851 C3151037 "Acne.inversa,.familial,.2" "Acne.inversa,.familial,.2"
PSEN1 5663 C3151038 "Acne.inversa,.familial,.3" "Acne.inversa,.familial,.3"
ATRX 546 C0585216 Acquired.hemoglobin.H.disease Acquired.hemoglobin.H.disease
KCNE2 9992 C2732979 Acquired.long.QT.syndrome Acquired.long.QT.syndrome
KCNH2 3757 C2732979 Acquired.long.QT.syndrome Acquired.long.QT.syndrome
SCN5A 6331 C2732979 Acquired.long.QT.syndrome Acquired.long.QT.syndrome
LMNB2 84823 C0220989 Acquired.partial.lipodystrophy Acquired.partial.lipodystrophy
KIF7 374654 C0796147 "Acrocallosal.syndrome,.Schinzel.type" "Acrocallosal.syndrome,.Schinzel.type"
IHH 3549 C1843096 Acrocapitofemoral.dysplasia Acrocapitofemoral.dysplasia
FGFR2 2263 C0001193 Acrocephalosyndactyly.type.I Acrocephalosyndactyly.type.I
PRKAR1A 5573 C3276228 Acrodysostosis.1.with.or.without.hormone.resistance Acrodysostosis.1.with.or.without.hormone.resistance
PDE4D 5144 C3553250 "Acrodysostosis.2,.with.or.without.hormone.resistance" "Acrodysostosis.2,.with.or.without.hormone.resistance"
SLURP1 57152 C0025221 Acroerythrokeratoderma Acroerythrokeratoderma
POLR1A 25885 CN231445 "ACROFACIAL.DYSOSTOSIS,.CINCINNATI.TYPE" "ACROFACIAL.DYSOSTOSIS,.CINCINNATI.TYPE"
ATP2A2 488 C0265971 Acrokeratosis.verruciformis.of.Hopf Acrokeratosis.verruciformis.of.Hopf
ZSWIM6 57688 C1863616 Acromelic.frontonasal.dysostosis Acromelic.frontonasal.dysostosis
GDF5 8200 C2930970 Acromesomelic.dysplasia.Hunter.Thompson.type Acromesomelic.dysplasia.Hunter.Thompson.type
NPR2 4882 C1864356 Acromesomelic.dysplasia.Maroteaux.type Acromesomelic.dysplasia.Maroteaux.type
FBN1 2200 CN074238 Acromicric.dysplasia Acromicric.dysplasia
TBX19 9095 C0342388 ACTH.deficiency ACTH.deficiency
MC2R 4158 C1859974 ACTH.resistance ACTH.resistance
ARMC5 79798 CN207837 Acth-independent.macronodular.adrenal.hyperplasia.2 Acth-independent.macronodular.adrenal.hyperplasia.3
PIK3CD 5293 C3714976 Activated.PI3K-delta.syndrome Activated.PI3K-delta.syndrome
HMBS 3145 C0162565 Acute.intermittent.porphyria Acute.intermittent.porphyria
FLT3 2322 C0023449 Acute.lymphoid.leukemia Acute.lymphoid.leukemia
GATA1 2623 C0023462 Acute.megakaryoblastic.leukemia Acute.megakaryoblastic.leukemia
EPOR 2057 C0023440 "Acute.myeloid.leukemia,.M6.type" "Acute.myeloid.leukemia,.M6.type"
GBA 2629 C0268250 Acute.neuronopathic.Gaucher's.disease Acute.neuronopathic.Gaucher's.disease
ACAD9 28976 C1970173 "Acyl-CoA.dehydrogenase.family,.member.9,.deficiency.of" "Acyl-CoA.dehydrogenase.family,.member.9,.deficiency.of"
DLL4 54567 C0265268 Adams-Oliver.syndrome Adams-Oliver.syndrome
DOCK6 57572 C0265268 Adams-Oliver.syndrome Adams-Oliver.syndrome
EOGT 285203 C0265268 Adams-Oliver.syndrome Adams-Oliver.syndrome
ARHGAP31 57514 CN028867 Adams-Oliver.syndrome.1 Adams-Oliver.syndrome
NOTCH1 4851 CN028867 Adams-Oliver.syndrome.1 Adams-Oliver.syndrome
DOCK6 57572 C3280182 Adams-Oliver.syndrome.2 Adams-Oliver.syndrome
RBPJ 3516 C3553748 Adams-Oliver.syndrome.3 Adams-Oliver.syndrome
EOGT 285203 C3809092 Adams-Oliver.syndrome.4 Adams-Oliver.syndrome
NOTCH1 4851 CN219575 Adams-Oliver.syndrome.5 Adams-Oliver.syndrome
ABCD1 215 C1868690 Addison's.disease Addison's.disease
APRT 353 C0268120 Adenine.phosphoribosyltransferase.deficiency Adenine.phosphoribosyltransferase.deficiency
BRAF 673 C0152013 Adenocarcinoma.of.lung Adenocarcinoma.of.lung
ERBB2 2064 C0152013 Adenocarcinoma.of.lung Adenocarcinoma.of.lung
PARK2 5071 C0152013 Adenocarcinoma.of.lung Adenocarcinoma.of.lung
PKLR 5313 C1863224 "Adenosine.triphosphate,.elevated,.of.erythrocytes" "Adenosine.triphosphate,.elevated,.of.erythrocytes"
AK1 203 C2675459 "Adenylate.kinase.deficiency,.hemolytic.anemia.due.to" "Adenylate.kinase.deficiency,.hemolytic.anemia.due.to"
ADSL 158 C0268126 Adenylosuccinate.lyase.deficiency Adenylosuccinate.lyase.deficiency
SMARCAD1 56916 C1851080 Adermatoglyphia Adermatoglyphia
NPHP3 27031 C1858392 Adolescent.nephronophthisis Adolescent.nephronophthisis
NR0B1 190 C1846220 "Adrenal.hypoplasia,.congenital,.with.precocious.puberty" "Adrenal.hypoplasia,.congenital,.with.precocious.puberty"
CYP11A1 1583 C3151055 "Adrenal.insufficiency,.congenital,.with.46,XY.sex.reversal,.partial.or.complete" "Adrenal.insufficiency,.congenital,.with.46,XY.sex.reversal,.partial.or.complete"
NR0B1 190 C1846221 "Adrenal.insufficiency,.progressive,.and.hypogonadotropic.hypogonadism" "Adrenal.insufficiency,.progressive,.and.hypogonadotropic.hypogonadism"
ABCD1 215 C0162309 Adrenoleukodystrophy Adrenoleukodystrophy
COL17A1 1308 C0268374 Adult.junctional.epidermolysis.bullosa Adult.junctional.epidermolysis.bullosa
ITGB4 3691 C0268374 Adult.junctional.epidermolysis.bullosa Adult.junctional.epidermolysis.bullosa
LAMA3 3909 C0268374 Adult.junctional.epidermolysis.bullosa Adult.junctional.epidermolysis.bullosa
LAMB3 3914 C0268374 Adult.junctional.epidermolysis.bullosa Adult.junctional.epidermolysis.bullosa
LAMC2 3918 C0268374 Adult.junctional.epidermolysis.bullosa Adult.junctional.epidermolysis.bullosa
CLN6 54982 C0022797 Adult.neuronal.ceroid.lipofuscinosis Adult.neuronal.ceroid.lipofuscinosis
APTX 54840 C1859598 Adult.onset.ataxia.with.oculomotor.apraxia Adult.onset.ataxia.with.oculomotor.apraxia
TP63 8626 C1863204 ADULT.syndrome ADULT.syndrome
PER2 8864 C1858496 "Advanced.sleep.phase.syndrome,.familial" Advanced.sleep.phase.syndrome
CSNK1D 1453 C3808874 "Advanced.sleep.phase.syndrome,.familial,.2" Advanced.sleep.phase.syndrome
CFI 3426 C0001733 Afibrinogenemia Afibrinogenemia
FGA 2243 CN071205 "Afibrinogenemia,.congenital" Afibrinogenemia
FGB 2244 CN071205 "Afibrinogenemia,.congenital" Afibrinogenemia
FGG 2266 CN071205 "Afibrinogenemia,.congenital" Afibrinogenemia
IGHM 3507 C1832241 "Agammaglobulinemia,.non-Bruton.type" Agammaglobulinemia
IGLL1 3543 C3150750 "Agammaglobulinemia.2,.autosomal.recessive" Agammaglobulinemia
CD79A 973 C3150751 "Agammaglobulinemia.3,.autosomal.recessive" Agammaglobulinemia
BLNK 29760 C3150752 "Agammaglobulinemia.4,.autosomal.recessive" Agammaglobulinemia
LRRC8A 56262 C3150753 "Agammaglobulinemia.5,.autosomal.dominant" Agammaglobulinemia
CD79B 974 C3150207 "Agammaglobulinemia.6,.autosomal.recessive" Agammaglobulinemia
PIK3R1 5295 C3554689 "Agammaglobulinemia.7,.autosomal.recessive" Agammaglobulinemia
CST3 1471 C2677774 Age-related.macular.degeneration.11 Age-related.macular.degeneration
CX3CR1 1524 C3151079 Age-related.macular.degeneration.12 Age-related.macular.degeneration
C2 717 C3809653 Age-related.macular.degeneration.14 Age-related.macular.degeneration
CFB 629 C3809653 Age-related.macular.degeneration.14 Age-related.macular.degeneration
FBLN5 10516 C1837187 Age-related.macular.degeneration.3 Age-related.macular.degeneration
CFH 3075 C1853147 Age-related.macular.degeneration.4 Age-related.macular.degeneration
ERCC6 2074 C3151063 Age-related.macular.degeneration.5 Age-related.macular.degeneration
RAX2 84839 C3151060 Age-related.macular.degeneration.6 Age-related.macular.degeneration
HTRA1 5654 C1857813 Age-related.macular.degeneration.7 Age-related.macular.degeneration
ARMS2 387715 C3151070 Age-related.macular.degeneration.8 Age-related.macular.degeneration
TREX1 11277 C0796126 Aicardi.Goutieres.syndrome.1 Aicardi.Goutieres.syndrome
RNASEH2B 79621 C3489724 Aicardi.Goutieres.syndrome.2 Aicardi.Goutieres.syndrome
RNASEH2C 84153 C1835916 Aicardi.Goutieres.syndrome.3 Aicardi.Goutieres.syndrome
RNASEH2A 10535 C1835912 Aicardi.Goutieres.syndrome.4 Aicardi.Goutieres.syndrome
SAMHD1 25939 C2749659 Aicardi.Goutieres.syndrome.5 Aicardi.Goutieres.syndrome
ADAR 103 C3539013 Aicardi-goutieres.syndrome.6 Aicardi.Goutieres.syndrome
IFIH1 64135 CN188935 Aicardi-goutieres.syndrome.7 Aicardi.Goutieres.syndrome
KIR3DL1 3811 C1836233 "AIDS,.progression.to" "AIDS,.progression.to"
GMPPA 29926 C3809738 "Alacrima,.achalasia,.and.mental.retardation.syndrome" "Alacrima,.achalasia,.and.mental.retardation.syndrome"
JAG1 182 C1956125 Alagille.syndrome.1 Alagille.syndrome.1
NOTCH2 4853 C1857761 Alagille.syndrome.2 Alagille.syndrome.2
LARP7 51574 C3554439 Alazami.syndrome Alazami.syndrome
SLC24A5 283652 CN178543 "ALBINISM,.OCULOCUTANEOUS,.TYPE.VI" "ALBINISM,.OCULOCUTANEOUS,.TYPE.VI"
ADH1B 125 C0001973 Alcohol.dependence Alcohol.dependence
ADH1C 126 C0001973 Alcohol.dependence Alcohol.dependence
ALDH2 217 C0001973 Alcohol.dependence Alcohol.dependence
ATP1A1 476 C1706762 Aldosterone.Producing.Adrenal.Cortex.Adenoma Aldosterone.Producing.Adrenal.Cortex.Adenoma
ATP2B3 492 C1706762 Aldosterone.Producing.Adrenal.Cortex.Adenoma Aldosterone.Producing.Adrenal.Cortex.Adenoma
CYP11B2 1585 C1852324 "Aldosterone.to.renin.ratio,.increased" "Aldosterone.to.renin.ratio,.increased"
GFAP 2670 C0270726 Alexander's.disease Alexander's.disease
HGD 3081 C0002066 Alkaptonuria Alkaptonuria
RARA 5914 CN230750 all.trans.retinoic.acid.(ATRA).response all.trans.retinoic.acid.(ATRA).response
SLC16A2 6567 C0795889 Allan-Herndon-Dudley.syndrome Allan-Herndon-Dudley.syndrome
ALB 213 CN220290 Alloalbuminemia Alloalbuminemia
SASH1 23328 C0002170 Alopecia Alopecia
RBM28 55131 C2677535 "Alopecia,.neurologic.defects,.and.endocrinopathy.syndrome" Alopecia
GJA1 2697 C1863093 Alopecia.congenita.keratosis.palmoplantaris Alopecia
HR 55806 C1859877 Alopecia.universalis.congenita Alopecia
CARS2 79587 CN221139 Alpers.encephalopathy Alpers.encephalopathy
HBA1 3039 C0002312 alpha.Thalassemia alpha.Thalassemia
HBA2 3040 C0002312 alpha.Thalassemia alpha.Thalassemia
HBB 3043 C0002312 alpha.Thalassemia alpha.Thalassemia
HBA2 3040 C0472762 Alpha.trait.thalassemia alpha.Thalassemia
RAG1 5896 C1835931 "Alpha/beta.T-cell.lymphopenia.with.gamma/delta.T-cell.expansion,.severe.cytomegalovirus.infection,.and.autoimmunity" "Alpha/beta.T-cell.lymphopenia.with.gamma/delta.T-cell.expansion,.severe.cytomegalovirus.infection,.and.autoimmunity"
SERPINA1 5265 C0221757 Alpha-1-antitrypsin.deficiency Alpha-1-antitrypsin.deficiency
CRYAB 1410 C1837317 Alpha-B.crystallinopathy Alpha-B.crystallinopathy
AFP 174 C1863080 "Alpha-fetoprotein,.hereditary.persistence.of" "Alpha-fetoprotein,.hereditary.persistence.of"
AFP 174 C1863081 Alpha-fetoprotein.deficiency Alpha-fetoprotein.deficiency
AMACR 23600 C1858325 Alpha-methylacyl-CoA.racemase.deficiency Alpha-methylacyl-CoA.racemase.deficiency
COL4A3 1285 C1567743 "Alport.syndrome,.autosomal.dominant" "Alport.syndrome,.autosomal.dominant"
COL4A3 1285 C1567744 "Alport.syndrome,.autosomal.recessive" "Alport.syndrome,.autosomal.recessive"
COL4A4 1286 C1567744 "Alport.syndrome,.autosomal.recessive" "Alport.syndrome,.autosomal.recessive"
COL4A5 1287 C1567742 "Alport.syndrome,.X-linked.recessive" "Alport.syndrome,.X-linked.recessive"
ALMS1 7840 C0268425 Alstrom.syndrome Alstrom.syndrome
PSEN2 5664 CN231084 "Altered.function,.association.with" "Altered.function,.association.with"
KCNA5 3741 CN231063 altered.potassium.channel.function altered.potassium.channel.function
ATP1A2 477 C3549447 Alternating.hemiplegia.of.childhood.1 Alternating.hemiplegia.of.childhood.1
ATP1A3 478 C3553788 Alternating.hemiplegia.of.childhood.2 Alternating.hemiplegia.of.childhood.2
FOXF1 2294 C0031190 Alveolar.capillary.dysplasia.with.misalignment.of.pulmonary.veins Alveolar.capillary.dysplasia.with.misalignment.of.pulmonary.veins
APP 351 C1863053 "Alzheimer.disease,.early-onset,.with.cerebral.amyloid.angiopathy" Alzheimer's.disease
PSEN1 5663 C1843015 "Alzheimer.disease,.familial,.3,.with.spastic.paraparesis.and.apraxia" Alzheimer's.disease
PSEN1 5663 C1843014 "Alzheimer.disease,.familial,.3,.with.spastic.paraparesis.and.unusual.plaques" Alzheimer's.disease
NOS3 4846 C1834153 "Alzheimer.disease,.late-onset,.susceptibility.to" Alzheimer's.disease
PLAU 5328 C1834153 "Alzheimer.disease,.late-onset,.susceptibility.to" Alzheimer's.disease
APP 351 C1863052 "Alzheimer.disease,.type.1" Alzheimer's.disease
PSEN1 5663 C1843013 "Alzheimer.disease,.type.3" Alzheimer's.disease
PSEN1 5663 C1847200 "Alzheimer.disease,.type.4" Alzheimer's.disease
PSEN2 5664 C1847200 "Alzheimer.disease,.type.4" Alzheimer's.disease
ADAM10 102 C3810041 Alzheimer.disease.18 Alzheimer's.disease
APP 351 C0002395 Alzheimer's.disease Alzheimer's.disease
MT-ND1 4535 C0002395 Alzheimer's.disease Alzheimer's.disease
PSEN1 5663 C0002395 Alzheimer's.disease Alzheimer's.disease
PSEN2 5664 C0002395 Alzheimer's.disease Alzheimer's.disease
FAM83H 286077 C0399376 "Amelogenesis.imperfecta,.hypocalcification.type" Amelogenesis.imperfecta
KLK4 9622 C2673922 "Amelogenesis.imperfecta,.hypomaturation.type,.IIA1" Amelogenesis.imperfecta
MMP20 9313 C2675858 "Amelogenesis.imperfecta,.hypomaturation.type,.IIA2" Amelogenesis.imperfecta
WDR72 256764 C2750771 "AMELOGENESIS.IMPERFECTA,.HYPOMATURATION.TYPE,.IIA3" Amelogenesis.imperfecta
C4orf26 152816 C3553830 "AMELOGENESIS.IMPERFECTA,.HYPOMATURATION.TYPE,.IIA4" Amelogenesis.imperfecta
SLC24A4 123041 CN191988 "AMELOGENESIS.IMPERFECTA,.HYPOMATURATION.TYPE,.IIA5" Amelogenesis.imperfecta
AMELX 265 C1845051 "Amelogenesis.imperfecta,.hypoplastic/hypomaturation,.X-linked.2" Amelogenesis.imperfecta
FAM83H 286077 C1845051 "Amelogenesis.imperfecta,.hypoplastic/hypomaturation,.X-linked.2" Amelogenesis.imperfecta
AMELX 265 C1845052 "Amelogenesis.imperfecta,.type.1E" Amelogenesis.imperfecta
ARHGAP6 395 C1845052 "Amelogenesis.imperfecta,.type.1E" Amelogenesis.imperfecta
LAMB3 3914 C0399367 "Amelogenesis.imperfecta,.type.IA" Amelogenesis.imperfecta
AMBN 258 CN228593 "AMELOGENESIS.IMPERFECTA,.TYPE.IF" Amelogenesis.imperfecta
ITGB6 3694 CN225925 "Amelogenesis.imperfecta,.type.IH" Amelogenesis.imperfecta
ENAM 10117 C0399368 Amelogenesis.imperfecta.-.hypoplastic.autosomal.dominant.-.local Amelogenesis.imperfecta
ACY1 95 C1835922 Aminoacylase.1.deficiency Aminoacylase.1.deficiency
DHTKD1 55526 C1859817 Aminoacylase.1.deficiency Aminoacylase.1.deficiency
MT-RNR1 4549 C1838854 Aminoacylase.1.deficiency Aminoacylase.1.deficiency
ST3GAL5 8869 C1836824 Aminoacylase.1.deficiency Aminoacylase.1.deficiency
SLC25A19 60386 C1846648 Aminoacylase.1.deficiency Aminoacylase.1.deficiency
CEBPA 1050 C0023467 Aminoacylase.1.deficiency Aminoacylase.1.deficiency
ETV6 2120 C0023467 Aminoacylase.1.deficiency Aminoacylase.1.deficiency
FLT3 2322 C0023467 Aminoacylase.1.deficiency Aminoacylase.1.deficiency
JAK2 3717 C0023467 Aminoacylase.1.deficiency Aminoacylase.1.deficiency
KIT 3815 C0023467 Aminoacylase.1.deficiency Aminoacylase.1.deficiency
KRAS 3845 C0023467 Aminoacylase.1.deficiency Aminoacylase.1.deficiency
NPM1 4869 C0023467 Aminoacylase.1.deficiency Aminoacylase.1.deficiency
TTR 7276 C2751492 Amyloidogenic.transthyretin.amyloidosis Amyloidosis
TTR 7276 C3151470 "AMYLOIDOSIS,.LEPTOMENINGEAL,.TRANSTHYRETIN-RELATED" Amyloidosis
IL31RA 133396 C3151404 "Amyloidosis,.primary.localized.cutaneous,.2" Amyloidosis
VCP 7415 C3151403 "Amyotrophic.lateral.sclerosis.14,.with.or.without.frontotemporal.dementia" Amyotrophic.lateral.sclerosis
UBQLN2 29978 C3275459 "Amyotrophic.lateral.sclerosis.15,.with.or.without.frontotemporal.dementia" Amyotrophic.lateral.sclerosis
SIGMAR1 10280 C3280587 "Amyotrophic.lateral.sclerosis.16,.juvenile" Amyotrophic.lateral.sclerosis
PFN1 5216 C3553719 Amyotrophic.lateral.sclerosis.18 Amyotrophic.lateral.sclerosis
ERBB4 2066 C3715155 Amyotrophic.lateral.sclerosis.19 Amyotrophic.lateral.sclerosis
HNRNPA1 3178 C3715156 Amyotrophic.lateral.sclerosis.20 Amyotrophic.lateral.sclerosis
TUBA4A 7277 CN225414 Amyotrophic.lateral.sclerosis.22.with.or.without.frontotemporal.dementia Amyotrophic.lateral.sclerosis
FUS 2521 C2750729 "Amyotrophic.lateral.sclerosis.6,.autosomal.recessive" Amyotrophic.lateral.sclerosis
SOD1 6647 C1862939 Amyotrophic.lateral.sclerosis.type.1 Amyotrophic.lateral.sclerosis
TARDBP 23435 C2677565 Amyotrophic.lateral.sclerosis.type.10 Amyotrophic.lateral.sclerosis
FIG4 9896 C2675491 Amyotrophic.lateral.sclerosis.type.11 Amyotrophic.lateral.sclerosis
OPTN 10133 C3150692 Amyotrophic.lateral.sclerosis.type.12 Amyotrophic.lateral.sclerosis
ALS2 57679 C1859807 Amyotrophic.lateral.sclerosis.type.2 Amyotrophic.lateral.sclerosis
SETX 23064 C1865409 Amyotrophic.lateral.sclerosis.type.4 Amyotrophic.lateral.sclerosis
FUS 2521 C1842675 Amyotrophic.lateral.sclerosis.type.6 Amyotrophic.lateral.sclerosis
VAPB 9217 C1837728 Amyotrophic.lateral.sclerosis.type.8 Amyotrophic.lateral.sclerosis
ANG 283 C2678468 Amyotrophic.lateral.sclerosis.type.9 Amyotrophic.lateral.sclerosis
ALB 213 C0878666 Analbuminemia Analbuminemia
CPN1 1369 C0398782 Anaphylotoxin.inactivator.deficiency Anaphylotoxin.inactivator.deficiency
RMRP 6023 C1846796 Anauxetic.dysplasia Anauxetic.dysplasia
SLC12A6 9990 C0795950 Andermann.syndrome Andermann.syndrome
KCNJ2 3759 C1563715 Andersen.Tawil.syndrome Andersen.Tawil.syndrome
AR 367 C0039585 Androgen.resistance.syndrome Androgen.resistance.syndrome
C15orf41 84529 C3810185 "ANEMIA,.CONGENITAL.DYSERYTHROPOIETIC,.TYPE.Ib" Anemia
G6PD 2539 C2720289 "Anemia,.nonspherocytic.hemolytic,.due.to.G6PD.deficiency" Anemia
GLRX5 51218 C2673914 "Anemia,.sideroblastic,.pyridoxine-refractory,.autosomal.recessive" Anemia
SLC25A38 54977 C2673914 "Anemia,.sideroblastic,.pyridoxine-refractory,.autosomal.recessive" Anemia
ABCB7 22 C1845028 Anemia.sideroblastic.and.spinocerebellar.ataxia Anemia
GATA1 2623 C3151785 "Anemia.without.thromobocytopenia,.X-linked" Anemia
CDKL5 6792 C0162635 Angelman.syndrome Angelman.syndrome
MECP2 4204 C0162635 Angelman.syndrome Angelman.syndrome
UBE3A 7337 C0162635 Angelman.syndrome Angelman.syndrome
SERPING1 710 CN068782 "Angioedema,.hereditary,.autosomal.recessive" Angioedema
XPNPEP2 7512 C3806711 "Angioedema.induced.by.ACE.inhibitors,.susceptibility.to" Angioedema
COL4A1 1282 C2673195 "Angiopathy,.hereditary,.with.nephropathy,.aneurysms,.and.muscle.cramps" "Angiopathy,.hereditary,.with.nephropathy,.aneurysms,.and.muscle.cramps"
ACE 1636 C1862874 "Angiotensin.i-converting.enzyme,.benign.serum.increase" "Angiotensin.i-converting.enzyme,.benign.serum.increase"
HP 3240 C3279786 Anhaptoglobinemia Anhaptoglobinemia
ITPR2 3709 C1862871 "Anhidrosis,.familial.generalized,.with.normal.sweat.glands" "Anhidrosis,.familial.generalized,.with.normal.sweat.glands"
IKBKG 8517 C1846007 Anhidrotic.ectodermal.dysplasia.with.immune.deficiency Anhidrotic.ectodermal.dysplasia.with.immune.deficiency
PAX6 5080 C0431401 "Aniridia,.cerebellar.ataxia,.and.mental.retardation" "Aniridia,.cerebellar.ataxia,.and.mental.retardation"
HLA-B 3106 C0038013 Ankylosing.spondylitis Ankylosing.spondylitis
RSPO4 343637 C0265998 Anonychia Anonychia
SMOC1 64093 C0599973 Anophthalmos.with.limb.anomalies Anophthalmos.with.limb.anomalies
FOXE3 2301 C1862839 Anterior.segment.mesenchymal.dysgenesis Anterior.segment.mesenchymal.dysgenesis
PITX3 5309 C1862839 Anterior.segment.mesenchymal.dysgenesis Anterior.segment.mesenchymal.dysgenesis
ERMAP 114625 C0443842 Antigen.in.Scianna.blood.group.system Antigen.in.Scianna.blood.group.system
SERPINF2 5345 C2752081 "Anti-plasmin.deficiency,.congenital" "Anti-plasmin.deficiency,.congenital"
MAOA 4128 C1839704 "Antisocial.behavior.following.childhood.maltreatment,.susceptibility.to" "Antisocial.behavior.following.childhood.maltreatment,.susceptibility.to"
SERPINC1 462 CN221564 Antithrombin.deficiency Antithrombin.deficiency
SERPINC1 462 C0272375 Antithrombin.III.deficiency Antithrombin.III.deficiency
POR 5447 C1860042 Antley-Bixler.syndrome.with.genital.anomalies.and.disordered.steroidogenesis Antley-Bixler.syndrome.with.genital.anomalies.and.disordered.steroidogenesis
FGFR2 2263 C2936791 Antley-Bixler.syndrome.without.genital.anomalies.or.disordered.steroidogenesis Antley-Bixler.syndrome.without.genital.anomalies.or.disordered.steroidogenesis
MYH11 4629 C0003486 Aortic.aneurysm Aortic.aneurysm
MYH11 4629 C1851504 "Aortic.aneurysm,.familial.thoracic.4" Aortic.aneurysm
ACTA2 59 C2673186 "Aortic.aneurysm,.familial.thoracic.6" Aortic.aneurysm
MYLK 4638 C3151077 "Aortic.aneurysm,.familial.thoracic.7" Aortic.aneurysm
PRKG1 5592 C3809513 "Aortic.aneurysm,.familial.thoracic.8" Aortic.aneurysm
MFAP5 8076 CN224986 "Aortic.aneurysm,.familial.thoracic.9" Aortic.aneurysm
SMAD6 4091 C3542024 Aortic.valve.disease.2 Aortic.valve.disease.3
NOTCH1 4851 C1260873 Aortic.valve.disorder Aortic.valve.disorder
FOXE3 2301 C1853230 "Aphakia,.congenital.primary" "Aphakia,.congenital.primary"
BMS1 9790 C0282160 Aplasia.cutis.congenita Aplasia.cutis.congenita
COX7B 1349 C3550921 "Aplasia.cutis.congenita,.reticulolinear,.with.microcephaly,.facial.dysmorphism,.and.other.congenital.anomalies" Aplasia.cutis.congenita
NBN 4683 C0002874 Aplastic.anemia Aplastic.anemia
PRF1 5551 C0002874 Aplastic.anemia Aplastic.anemia
TERC 7012 C0002874 Aplastic.anemia Aplastic.anemia
TERT 7015 C0002874 Aplastic.anemia Aplastic.anemia
TINF2 26277 C0002874 Aplastic.anemia Aplastic.anemia
IFNG 3458 C2684859 "Aplastic.anemia,.susceptibility.to" Aplastic.anemia
PRF1 5551 C2684859 "Aplastic.anemia,.susceptibility.to" Aplastic.anemia
ABCC11 85320 C1861696 "Apocrine.gland.secretion,.variation.in" "Apocrine.gland.secretion,.variation.in"
APOA1 335 C0342898 Apolipoprotein.a-i.deficiency Apolipoprotein.a-i.deficiency
APOC2 344 C1720779 Apolipoprotein.C2.deficiency Apolipoprotein.C2.deficiency
APOC2 NA C1720779 Apolipoprotein.C2.deficiency Apolipoprotein.C2.deficiency
HSD11B2 3291 C2936861 Apparent.mineralocorticoid.excess Apparent.mineralocorticoid.excess
CYP3A5 1577 CN228655 appendicular.lean.mass.relative.to.body.height appendicular.lean.mass.relative.to.body.height
APRT 353 C0268121 "APRT.deficiency,.Japanese.type" "APRT.deficiency,.Japanese.type"
ARG1 383 C0268548 Arginase.deficiency Arginase.deficiency
GATM 2628 C2675179 Arginine:glycine.amidinotransferase.deficiency Arginine:glycine.amidinotransferase.deficiency
ASL 435 C0268547 Argininosuccinate.lyase.deficiency Argininosuccinate.lyase.deficiency
CYP19A1 1588 C0878680 Aromatase.deficiency Aromatase.deficiency
AKAP9 10142 C0003811 Arrhythmia Arrhythmia
ANK2 287 C0003811 Arrhythmia Arrhythmia
ATP1B1 481 C0003811 Arrhythmia Arrhythmia
CACNA1C 775 C0003811 Arrhythmia Arrhythmia
CACNB2 783 C0003811 Arrhythmia Arrhythmia
CASQ2 845 C0003811 Arrhythmia Arrhythmia
DSG2 1829 C0003811 Arrhythmia Arrhythmia
HCN4 10021 C0003811 Arrhythmia Arrhythmia
JUP 3728 C0003811 Arrhythmia Arrhythmia
KCNE1 3753 C0003811 Arrhythmia Arrhythmia
KCNE2 9992 C0003811 Arrhythmia Arrhythmia
KCNE3 10008 C0003811 Arrhythmia Arrhythmia
KCNH2 3757 C0003811 Arrhythmia Arrhythmia
KCNJ2 3759 C0003811 Arrhythmia Arrhythmia
KCNJ5 3762 C0003811 Arrhythmia Arrhythmia
KCNJ8 3764 C0003811 Arrhythmia Arrhythmia
KCNQ1 3784 C0003811 Arrhythmia Arrhythmia
LIG3 3980 C0003811 Arrhythmia Arrhythmia
NOS1AP 9722 C0003811 Arrhythmia Arrhythmia
NPPA 4878 C0003811 Arrhythmia Arrhythmia
RANGRF 29098 C0003811 Arrhythmia Arrhythmia
RYR2 6262 C0003811 Arrhythmia Arrhythmia
SCN1B 6324 C0003811 Arrhythmia Arrhythmia
SCN3B 55800 C0003811 Arrhythmia Arrhythmia
SCN4B 6330 C0003811 Arrhythmia Arrhythmia
SCN5A 6331 C0003811 Arrhythmia Arrhythmia
SNTA1 6640 C0003811 Arrhythmia Arrhythmia
CALR3 125972 C0349788 Arrhythmogenic.right.ventricular.cardiomyopathy Arrhythmia
CTF1 1489 C0349788 Arrhythmogenic.right.ventricular.cardiomyopathy Arrhythmia
DMD 1756 C0349788 Arrhythmogenic.right.ventricular.cardiomyopathy Arrhythmia
DSC2 1824 C0349788 Arrhythmogenic.right.ventricular.cardiomyopathy Arrhythmia
DSG2 1829 C0349788 Arrhythmogenic.right.ventricular.cardiomyopathy Arrhythmia
DSP 1832 C0349788 Arrhythmogenic.right.ventricular.cardiomyopathy Arrhythmia
JUP 3728 C0349788 Arrhythmogenic.right.ventricular.cardiomyopathy Arrhythmia
KCNH2 3757 C0349788 Arrhythmogenic.right.ventricular.cardiomyopathy Arrhythmia
LAMA4 3910 C0349788 Arrhythmogenic.right.ventricular.cardiomyopathy Arrhythmia
LMNA 4000 C0349788 Arrhythmogenic.right.ventricular.cardiomyopathy Arrhythmia
PKP2 5318 C0349788 Arrhythmogenic.right.ventricular.cardiomyopathy Arrhythmia
PLN 5350 C0349788 Arrhythmogenic.right.ventricular.cardiomyopathy Arrhythmia
RYR2 6262 C0349788 Arrhythmogenic.right.ventricular.cardiomyopathy Arrhythmia
SCN5A 6331 C0349788 Arrhythmogenic.right.ventricular.cardiomyopathy Arrhythmia
SNTA1 6640 C0349788 Arrhythmogenic.right.ventricular.cardiomyopathy Arrhythmia
TMEM43 79188 C0349788 Arrhythmogenic.right.ventricular.cardiomyopathy Arrhythmia
TTN 7273 C0349788 Arrhythmogenic.right.ventricular.cardiomyopathy Arrhythmia
TGFB3 7043 C1862511 "Arrhythmogenic.right.ventricular.cardiomyopathy,.type.1" Arrhythmia
DSG2 1829 C1857777 "Arrhythmogenic.right.ventricular.cardiomyopathy,.type.10" Arrhythmia
DSC2 1824 C1864850 "Arrhythmogenic.right.ventricular.cardiomyopathy,.type.11" Arrhythmia
JUP 3728 C1969081 "Arrhythmogenic.right.ventricular.cardiomyopathy,.type.12" Arrhythmia
RYR2 6262 C1832931 "Arrhythmogenic.right.ventricular.cardiomyopathy,.type.2" Arrhythmia
TMEM43 79188 C1858379 "Arrhythmogenic.right.ventricular.cardiomyopathy,.type.5" Arrhythmia
DSP 1832 C1843896 "Arrhythmogenic.right.ventricular.cardiomyopathy,.type.8" Arrhythmia
PKP2 5318 C1836906 "Arrhythmogenic.right.ventricular.cardiomyopathy,.type.9" Arrhythmia
DSC2 1824 CN128708 "Arrhythmogenic.right.ventricular.dysplasia,.familial,.11,.with.mild.palmoplantar.keratoderma.and.woolly.hair" Arrhythmia
CTNNA3 29119 C3810138 "Arrhythmogenic.right.ventricular.dysplasia,.familial,.13" Arrhythmia
DSC2 1824 CN221565 Arrhythmogenic.right.ventricular.dysplasia/cardiomyopathy Arrhythmia
ENPP1 5167 C1859727 Arterial.calcification.of.infancy Arterial.calcification.of.infancy
COL3A1 1281 CN004695 Arterial.dissection Arterial.dissection
GATA5 140628 CN004695 Arterial.dissection Arterial.dissection
NOTCH1 4851 CN004695 Arterial.dissection Arterial.dissection
SKI 6497 CN004695 Arterial.dissection Arterial.dissection
SLC2A10 81031 C1859726 Arterial.tortuosity.syndrome Arterial.tortuosity.syndrome
ECEL1 9427 C3554415 "Arthrogryposis,.distal,.type.5d" "Arthrogryposis,.distal,.type.5d"
SLC35A3 23443 C3809910 "Arthrogryposis,.mental.retardation,.and.seizures" Arthrogryposis
VIPAS39 63894 C3150672 "Arthrogryposis,.renal.dysfunction,.and.cholestasis.2" Arthrogryposis
ADGRG6 57211 C2931264 Arthrogryposis.multiplex.congenita Arthrogryposis
UBA1 7317 C1844934 "Arthrogryposis.multiplex.congenita,.distal,.X-linked" Arthrogryposis
TPM2 7169 C0220662 Arthrogryposis.multiplex.congenita.distal.type.1 Arthrogryposis
VPS33B 26276 C1859722 Arthrogryposis.renal.dysfunction.cholestasis.syndrome Arthrogryposis
PRPS1 5631 C0796028 Arts.syndrome Arts.syndrome
ARSA 410 CN068604 Arylsulfatase.A.pseudodeficiency Arylsulfatase.A.pseudodeficiency
ASNS 440 C3809971 Asparagine.synthetase.deficiency Asparagine.synthetase.deficiency
GOT1 2805 C3280741 "Aspartate.aminotransferase,.serum.level.of,.quantitative.trait.locus.1" "Aspartate.aminotransferase,.serum.level.of,.quantitative.trait.locus.2"
AGA 175 CN068400 "Aspartylglucosaminuria,.finnish.type" Aspartylglucosaminuria
AGA 175 C0268225 Aspartylglycosaminuria Aspartylglycosaminuria
NLGN4X 57502 C1845334 Asperger.syndrome.X-linked.2 Aspergers
IFT80 57560 C1970005 Asphyxiating.thoracic.dystrophy.2 Asphyxiating.thoracic.dystrophy
TTC21B 79809 C3151185 Asphyxiating.thoracic.dystrophy.4 Asphyxiating.thoracic.dystrophy
WDR19 57728 C3280598 Asphyxiating.thoracic.dystrophy.5 Asphyxiating.thoracic.dystrophy
PTGER2 5732 C1876174 "Asthma,.aspirin-induced,.susceptibility.to" Asthma
ALOX5 240 C1833270 "Asthma,.diminished.response.to.antileukotriene.treatment.in" Asthma
MUC7 4589 C1833269 "Asthma,.protection.against" Asthma
CCL11 6356 C1869116 "Asthma,.susceptibility.to" Asthma
HNMT 3176 C1869116 "Asthma,.susceptibility.to" Asthma
IL13 3596 C1869116 "Asthma,.susceptibility.to" Asthma
SCGB1A1 7356 C1869116 "Asthma,.susceptibility.to" Asthma
SCGB3A2 117156 C1869116 "Asthma,.susceptibility.to" Asthma
TBX21 30009 C1858067 Asthma.and.nasal.polyps Asthma
PTGDR 5729 C1846534 "ASTHMA-RELATED.TRAITS,.SUSCEPTIBILITY.TO,.1" Asthma
NPSR1 387129 C1837811 "ASTHMA-RELATED.TRAITS,.SUSCEPTIBILITY.TO,.2" Asthma
IRAK3 11213 C1970224 "ASTHMA-RELATED.TRAITS,.SUSCEPTIBILITY.TO,.5" Asthma
CHI3L1 1116 C2677770 "ASTHMA-RELATED.TRAITS,.SUSCEPTIBILITY.TO,.7" Asthma
TP53 7157 C0004114 Astrocytoma Astrocytoma
DNAJC3 5611 CN225195 "Ataxia,.combined.cerebellar.and.peripheral,.with.hearing.loss.and.diabetes.mellitus" Ataxia
RNF170 81790 C1837015 "Ataxia,.sensory,.autosomal.dominant" Ataxia
VAMP1 6843 C1970107 "Ataxia,.spastic,.1,.autosomal.dominant" Ataxia
KIF1C 10749 C1969796 "Ataxia,.spastic,.2,.autosomal.recessive" Ataxia
MARS2 92935 C1969645 "Ataxia,.spastic,.3,.autosomal.recessive" Ataxia
MTPAP 55149 C3150925 "Ataxia,.spastic,.4,.autosomal.recessive" Ataxia
TTPA 7274 C1848533 Ataxia.with.vitamin.E.deficiency Ataxia
PIK3R5 23533 C3554690 Ataxia-oculomotor.apraxia.3 Ataxia
PNKP 11284 CN228595 ATAXIA-OCULOMOTOR.APRAXIA.4 Ataxia
ATM 472 C0004135 Ataxia-telangiectasia.syndrome Ataxia
ATM 472 C1876175 Ataxia-telangiectasia.variant Ataxia
MRE11A 4361 C1858391 Ataxia-telangiectasia-like.disorder Ataxia
PCNA 5111 CN197312 Ataxia-telangiectasia-like.disorder.2 Ataxia
BRCA2 675 C0342573 Ateleiotic.dwarfism Ateleiotic.dwarfism
CRIPT 9419 C0342573 Ateleiotic.dwarfism Ateleiotic.dwarfism
DNA2 1763 C0342573 Ateleiotic.dwarfism Ateleiotic.dwarfism
GH1 2688 C0342573 Ateleiotic.dwarfism Ateleiotic.dwarfism
XRCC4 7518 C0342573 Ateleiotic.dwarfism Ateleiotic.dwarfism
FLNB 2317 C0265283 Atelosteogenesis.type.1 Atelosteogenesis
SLC26A2 1836 C1850554 Atelosteogenesis.type.2 Atelosteogenesis
FLNB 2317 C1862414 Atelosteogenesis.type.3 Atelosteogenesis
HOXA1 3198 C1832215 Athabaskan.brainstem.dysgenesis Athabaskan.brainstem.dysgenesis
VEGFA 7422 C1851473 "Atherosclerosis,.susceptibility.to" Atherosclerosis
IL4R 3566 C1840254 "Atopy,.susceptibility.to" Atopy
SELP 6403 C1840254 "Atopy,.susceptibility.to" Atopy
SPINK5 11005 C1840254 "Atopy,.susceptibility.to" Atopy
TF 7018 C1859593 Atransferrinemia Atransferrinemia
KCNE2 9992 C1963067 Atrial.fibrillation Atrial.fibrillation
KCNQ1 3784 C1963067 Atrial.fibrillation Atrial.fibrillation
SCN5A 6331 C0004238 Atrial.fibrillation Atrial.fibrillation
SCN5A 6331 C1963067 Atrial.fibrillation Atrial.fibrillation
GJA5 2702 C3279693 "Atrial.fibrillation,.familial,.11" Atrial.fibrillation
ABCC9 10060 C3279695 "Atrial.fibrillation,.familial,.12" Atrial.fibrillation
SCN1B 6324 C3809311 "Atrial.fibrillation,.familial,.13" Atrial.fibrillation
SCN2B 6327 C3809312 "Atrial.fibrillation,.familial,.14" Atrial.fibrillation
NUP155 9631 CN186322 "Atrial.fibrillation,.familial,.15" Atrial.fibrillation
SCN3B 55800 CN220307 "Atrial.fibrillation,.familial,.16" Atrial.fibrillation
SCN4B 6330 CN196901 "Atrial.fibrillation,.familial,.17" Atrial.fibrillation
KCNQ1 3784 C1837014 "Atrial.fibrillation,.familial,.3" Atrial.fibrillation
NPPA 4878 C2677294 "Atrial.fibrillation,.familial,.6" Atrial.fibrillation
KCNA5 3741 C2677106 "Atrial.fibrillation,.familial,.7" Atrial.fibrillation
PRKAR1A 5573 C1850635 "Atrial.myxoma,.familial" "Atrial.myxoma,.familial"
NKX2-5 1482 C0018817 Atrial.septal.defect Atrial.septal.defect
SOS1 6654 C0018817 Atrial.septal.defect Atrial.septal.defect
GATA4 2626 C1842778 Atrial.septal.defect.2 Atrial.septal.defect
MYH6 4624 C1834527 Atrial.septal.defect.3 Atrial.septal.defect
TBX20 57057 C1969657 Atrial.septal.defect.4 Atrial.septal.defect
ACTC1 70 C2748552 Atrial.septal.defect.5 Atrial.septal.defect
TLL1 7092 C2751315 Atrial.septal.defect.6 Atrial.septal.defect
NKX2-5 1482 C1862388 Atrial.septal.defect.7.with.or.without.atrioventricular.conduction.defects Atrial.septal.defect
CITED2 10370 C3280790 Atrial.septal.defect.8 Atrial.septal.defect
NPPA 4878 C3810401 Atrial.standstill.2 Atrial.standstill.3
HR 55806 C1859592 Atrichia.with.papular.lesions Atrichia.with.papular.lesions
CRELD1 78987 C1853509 "Atrioventricular.septal.defect,.partial,.with.heterotaxy.syndrome" "Atrioventricular.septal.defect,.partial,.with.heterotaxy.syndrome"
CRELD1 78987 C1853508 Atrioventricular.septal.defect.2 Atrioventricular.septal.defect.2
GATA4 2626 C3280781 Atrioventricular.septal.defect.4 Atrioventricular.septal.defect.4
GATA6 2627 C3280939 Atrioventricular.septal.defect.5 Atrioventricular.septal.defect.5
NDP 4693 C0266526 Atrophia.bulborum.hereditaria Atrophia.bulborum.hereditaria
LRP1 4035 C0263429 Atrophoderma.vermiculatum Atrophoderma.vermiculatum
ATRX 546 C1845055 ATR-X.syndrome ATR-X.syndrome
MECP2 4204 C1263846 Attention.deficit.hyperactivity.disorder ADHD
TPH2 121278 C2751802 Attention.deficit-hyperactivity.disorder.7 ADHD
DGKE 8526 CN043568 atypical.hemolytic-uremic.syndrome atypical.hemolytic-uremic.syndrome
BAAT 570 C2749604 Atypical.hemolytic-uremic.syndrome.1 Atypical.hemolytic-uremic.syndrome.1
CFH 3075 C2749604 Atypical.hemolytic-uremic.syndrome.1 Atypical.hemolytic-uremic.syndrome.1
CD46 4179 C2752040 Atypical.hemolytic-uremic.syndrome.2 Atypical.hemolytic-uremic.syndrome.2
CFI 3426 C2752039 Atypical.hemolytic-uremic.syndrome.3 Atypical.hemolytic-uremic.syndrome.3
CFB 629 C2752038 Atypical.hemolytic-uremic.syndrome.4 Atypical.hemolytic-uremic.syndrome.4
C3 718 C2752037 Atypical.hemolytic-uremic.syndrome.5 Atypical.hemolytic-uremic.syndrome.5
THBD 7056 C2752036 Atypical.hemolytic-uremic.syndrome.6 Atypical.hemolytic-uremic.syndrome.6
CYBB 1536 C1970859 "Atypical.mycobacteriosis,.familial,.X-linked.2" "Atypical.mycobacteriosis,.familial,.X-linked.3"
CDKL5 6792 C2748910 Atypical.Rett.syndrome Atypical.Rett.syndrome
MECP2 4204 C2748910 Atypical.Rett.syndrome Atypical.Rett.syndrome
DIAPH3 81624 C1836743 "Auditory.neuropathy,.autosomal.dominant,.1" "Auditory.neuropathy,.autosomal.dominant,.2"
OTOF 9381 CN043167 "Auditory.neuropathy,.autosomal.recessive,.1" "Auditory.neuropathy,.autosomal.recessive,.2"
TSHZ1 10194 C1842937 "Aural.atresia,.congenital" "Aural.atresia,.congenital"
GNAI3 2773 C1865295 Auriculocondylar.syndrome.1 Auriculocondylar.syndrome.1
PLCB4 5332 C3553404 Auriculocondylar.syndrome.2 Auriculocondylar.syndrome.2
EDN1 1906 C3810332 Auriculocondylar.syndrome.3 Auriculocondylar.syndrome.3
ALG1L2 644974 CN000674 Autism Autism
AMPD1 270 CN000674 Autism Autism
CDKL5 6792 CN000674 Autism Autism
LAMB3 3914 CN000674 Autism Autism
MYBBP1A 10514 CN000674 Autism Autism
CHD8 57680 C3554373 "Autism,.susceptibility.to,.18" Autism
EIF4E 1977 C3554495 "Autism,.susceptibility.to,.19" Autism
NLGN3 54413 C1845540 "Autism,.susceptibility.to,.X-linked.1" Autism
NLGN4X 57502 C1845539 "Autism,.susceptibility.to,.X-linked.2" Autism
MECP2 4204 C1845336 "Autism,.susceptibility.to,.X-linked.3" Autism
RPL10 6134 C3275438 "Autism,.susceptibility.to,.X-linked.5" Autism
GLO1 2739 C1968924 Autism.1 Autism
EN2 2020 C1970242 Autism.10 Autism
CNTNAP2 26047 C2677504 Autism.15 Autism
SLC9A9 285195 C3150677 Autism.16 Autism
SHANK2 22941 C3150693 Autism.17 Autism
MET 4233 C1970243 Autism.9 Autism
TSC2 7249 C1510586 Autism.spectrum.disorders Autism
ANK3 288 C0004352 Autistic.disorder.of.childhood.onset Autism
SCN1A 6323 C0004352 Autistic.disorder.of.childhood.onset Autism
WDR93 56964 C1298684 Autistic.spectrum.disorder.with.isolated.skills Autism
STAT3 6774 CN207828 "Autoimmune.disease,.multisystem,.infantile-onset" Autoimmune.disease
ITCH 83737 C3150649 "Autoimmune.disease,.syndromic.multisystem" Autoimmune.disease
FOXD3 27022 C1842979 Autoimmune.disease.1 Autoimmune.disease
SIAE 54414 C3150797 Autoimmune.disease.6 Autoimmune.disease
FAS 355 C1328840 Autoimmune.lymphoproliferative.syndrome Autoimmune.disease
FASLG 356 C1328840 Autoimmune.lymphoproliferative.syndrome Autoimmune.disease
FAS 355 C1866119 "Autoimmune.lymphoproliferative.syndrome,.type.1a" Autoimmune.disease
FASLG 356 C1866120 "Autoimmune.lymphoproliferative.syndrome,.type.1b" Autoimmune.disease
CASP10 843 C1858968 "Autoimmune.lymphoproliferative.syndrome,.type.2" Autoimmune.disease
CTLA4 1493 CN221537 "AUTOIMMUNE.LYMPHOPROLIFERATIVE.SYNDROME,.TYPE.V" Autoimmune.disease
AIRE 326 C1855869 "Autoimmune.polyglandular.syndrome.type.1,.autosomal.dominant" Autoimmune.disease
AIRE 326 C2749602 "Autoimmune.polyglandular.syndrome.type.1,.with.reversible.metaphyseal.dysplasia" Autoimmune.disease
TG 7038 C1842444 Autoimmune.thyroid.disease.3 Autoimmune.disease
ZFAT 57623 C1842444 Autoimmune.thyroid.disease.3 Autoimmune.disease
PLCG2 5336 C3553961 "Autoinflammation,.antibody.deficiency,.and.immune.dysregulation,.plcg2-associated" Autoimmune.disease
NLRC4 58484 CN220130 Autoinflammation.with.infantile.enterocolitis Autoinflammation.with.infantile.enterocolitis
IRF8 3394 C3808589 Autosomal.dominant.CD11C+/CD1C+.dendritic.cell.deficiency Autosomal.dominant.CD11C+/CD1C+.dendritic.cell.deficiency
EDAR 10913 C1720965 Autosomal.dominant.hypohidrotic.ectodermal.dysplasia Autosomal.dominant.hypohidrotic.ectodermal.dysplasia
EDARADD 128178 C1720965 Autosomal.dominant.hypohidrotic.ectodermal.dysplasia Autosomal.dominant.hypohidrotic.ectodermal.dysplasia
FGF23 8074 C0342642 Autosomal.dominant.hypophosphatemic.rickets Autosomal.dominant.hypophosphatemic.rickets
SPRED1 161742 C0443147 Autosomal.dominant.inheritance Autosomal.dominant.inheritance
GH1 2688 C0271567 Autosomal.dominant.isolated.somatotropin.deficiency Autosomal.dominant.isolated.somatotropin.deficiency
POLG 5428 C1834846 Autosomal.dominant.progressive.external.ophthalmoplegia.with.mitochondrial.DNA.deletions.1 Autosomal.dominant.progressive.external.ophthalmoplegia.with.mitochondrial.DNA.deletions.1
SLC25A4 291 C1836460 Autosomal.dominant.progressive.external.ophthalmoplegia.with.mitochondrial.DNA.deletions.2 Autosomal.dominant.progressive.external.ophthalmoplegia.with.mitochondrial.DNA.deletions.2
C10orf2 56652 C1836439 Autosomal.dominant.progressive.external.ophthalmoplegia.with.mitochondrial.DNA.deletions.3 Autosomal.dominant.progressive.external.ophthalmoplegia.with.mitochondrial.DNA.deletions.3
POLG2 11232 C1864668 Autosomal.dominant.progressive.external.ophthalmoplegia.with.mitochondrial.DNA.deletions.4 Autosomal.dominant.progressive.external.ophthalmoplegia.with.mitochondrial.DNA.deletions.4
RRM2B 50484 C2751319 Autosomal.dominant.progressive.external.ophthalmoplegia.with.mitochondrial.DNA.deletions.5 Autosomal.dominant.progressive.external.ophthalmoplegia.with.mitochondrial.DNA.deletions.5
TUBB4A 10382 C1851943 Autosomal.dominant.torsion.dystonia.4 Autosomal.dominant.torsion.dystonia.5
BIN1 274 C0410204 Autosomal.recessive.centronuclear.myopathy Autosomal.recessive.centronuclear.myopathy
TTN 7273 C0410204 Autosomal.recessive.centronuclear.myopathy Autosomal.recessive.centronuclear.myopathy
TGM1 7051 C3536797 Autosomal.recessive.congenital.ichthyosis.1 ichthyosis
PNPLA1 285848 C3554355 Autosomal.recessive.congenital.ichthyosis.10 ichthyosis
ALOX12B 242 C1855792 Autosomal.recessive.congenital.ichthyosis.2 ichthyosis
ALOXE3 59344 C1847849 Autosomal.recessive.congenital.ichthyosis.3 ichthyosis
ABCA12 26154 C1832550 Autosomal.recessive.congenital.ichthyosis.4A ichthyosis
ABCA12 26154 C0239849 Autosomal.recessive.congenital.ichthyosis.4B ichthyosis
CYP4F22 126410 C1858142 Autosomal.recessive.congenital.ichthyosis.5 ichthyosis
NIPAL4 348938 C2677065 Autosomal.recessive.congenital.ichthyosis.6 ichthyosis
LIPN 643418 C3151377 Autosomal.recessive.congenital.ichthyosis.8 ichthyosis
CERS3 204219 C3554349 Autosomal.recessive.congenital.ichthyosis.9 ichthyosis
EFEMP2 30008 C3280798 Autosomal.recessive.cutis.laxa.type.1B Autosomal.recessive.cutis.laxa.type.1B
PYCR1 5831 C2751987 Autosomal.recessive.cutis.laxa.type.2B Autosomal.recessive.cutis.laxa.type.2B
PYCR1 5831 C3280799 Autosomal.recessive.cutis.laxa.type.3B Autosomal.recessive.cutis.laxa.type.3B
EFEMP2 30008 CN033664 Autosomal.recessive.cutis.laxa.type.IA Autosomal.recessive.cutis.laxa.type.IA
FBLN5 10516 CN033664 Autosomal.recessive.cutis.laxa.type.IA Autosomal.recessive.cutis.laxa.type.IA
MPZ 4359 CN069172 Autosomal.recessive.Dejerine-Sottas.syndrome Autosomal.recessive.Dejerine-Sottas.syndrome
PMP22 5376 CN069172 Autosomal.recessive.Dejerine-Sottas.syndrome Autosomal.recessive.Dejerine-Sottas.syndrome
PRX 57716 CN069172 Autosomal.recessive.Dejerine-Sottas.syndrome Autosomal.recessive.Dejerine-Sottas.syndrome
EDAR 10913 C0406702 Autosomal.recessive.hypohidrotic.ectodermal.dysplasia.syndrome Autosomal.recessive.hypohidrotic.ectodermal.dysplasia.syndrome
EDARADD 128178 C0406702 Autosomal.recessive.hypohidrotic.ectodermal.dysplasia.syndrome Autosomal.recessive.hypohidrotic.ectodermal.dysplasia.syndrome
SLC34A3 142680 C0342645 Autosomal.recessive.hypophosphatemic.bone.disease Autosomal.recessive.hypophosphatemic.bone.disease
DMP1 1758 C0342643 Autosomal.recessive.hypophosphatemic.vitamin.D.refractory.rickets Autosomal.recessive.hypophosphatemic.vitamin.D.refractory.rickets
TNK2 10188 CN183915 Autosomal.recessive.infantile.epilepsy Autosomal.recessive.infantile.epilepsy
FBLN1 2192 CN178542 "Autosomal.recessive.syndrome.of.syndactyly,.undescended.testes.and.central.nervous.system.defects" "Autosomal.recessive.syndrome.of.syndactyly,.undescended.testes.and.central.nervous.system.defects"
MYH6 4624 C1560277 AV.Block.Third.Degree.Adverse.Event AV.Block.Third.Degree.Adverse.Event
PKP2 5318 C0232208 AV.junctional.rhythm AV.junctional.rhythm
TGFBI 7045 C1275685 Avellino.corneal.dystrophy Avellino.corneal.dystrophy
FOXC1 2296 C0266548 Axenfeld.anomaly Axenfeld.anomaly
FOXC1 2296 C2676985 Axenfeld-rieger.anomaly Axenfeld-rieger.anomaly
PITX2 5308 C3714873 Axenfeld-Rieger.syndrome.type.1 Axenfeld-Rieger.syndrome.type.1
FOXC1 2296 C2678503 Axenfeld-Rieger.syndrome.type.3 Axenfeld-Rieger.syndrome.type.3
RYR1 6261 CN221569 "Axial.myopathy,.late-onset" "Axial.myopathy,.late-onset"
TPMT 7172 CN207624 Azathioprine.intolerance Azathioprine.intolerance
ATXN3 4287 C0024408 Azorean.disease Azorean.disease
ASXL3 80816 C3809650 Bainbridge-Ropers.syndrome Bainbridge-Ropers.syndrome
RECQL4 9401 C0265308 Baller-Gerold.syndrome Baller-Gerold.syndrome
FOXE1 2304 C1855794 Bamforth.syndrome Bamforth.syndrome
OCLN 100506658 C3489725 Band-like.calcification.with.simplified.gyration.and.polymicrogyria Band-like.calcification.with.simplified.gyration.and.polymicrogyria
PTEN 5728 C0265326 Bannayan-Riley-Ruvalcaba.syndrome Bannayan-Riley-Ruvalcaba.syndrome
ACTB 60 C1855722 Baraitser-Winter.syndrome.1 Baraitser-Winter.syndrome.1
ACTG1 71 C3281235 Baraitser-Winter.Syndrome.2 Baraitser-Winter.Syndrome.2
GATA3 2625 C1840333 Barakat.syndrome Barakat.syndrome
TWIST2 117581 C1319466 Barber-Say.syndrome Barber-Say.syndrome
ARL6 84100 C0752166 Bardet-Biedl.syndrome Bardet-Biedl.syndrome
BBIP1 92482 C0752166 Bardet-Biedl.syndrome Bardet-Biedl.syndrome
BBS1 582 C0752166 Bardet-Biedl.syndrome Bardet-Biedl.syndrome
BBS10 79738 C0752166 Bardet-Biedl.syndrome Bardet-Biedl.syndrome
BBS12 166379 C0752166 Bardet-Biedl.syndrome Bardet-Biedl.syndrome
BBS2 583 C0752166 Bardet-Biedl.syndrome Bardet-Biedl.syndrome
BBS4 585 C0752166 Bardet-Biedl.syndrome Bardet-Biedl.syndrome
BBS5 129880 C0752166 Bardet-Biedl.syndrome Bardet-Biedl.syndrome
BBS7 55212 C0752166 Bardet-Biedl.syndrome Bardet-Biedl.syndrome
LZTFL1 54585 C0752166 Bardet-Biedl.syndrome Bardet-Biedl.syndrome
MKKS 8195 C0752166 Bardet-Biedl.syndrome Bardet-Biedl.syndrome
TTC8 123016 C0752166 Bardet-Biedl.syndrome Bardet-Biedl.syndrome
WDPCP 51057 C0752166 Bardet-Biedl.syndrome Bardet-Biedl.syndrome
BBS1 582 C2936862 Bardet-Biedl.syndrome.1 Bardet-Biedl.syndrome
BBS10 79738 C1859568 Bardet-Biedl.syndrome.10 Bardet-Biedl.syndrome
TRIM32 22954 C1859569 Bardet-Biedl.syndrome.11 Bardet-Biedl.syndrome
BBS12 166379 C1859570 Bardet-Biedl.syndrome.12 Bardet-Biedl.syndrome
MKS1 54903 C2673873 Bardet-Biedl.syndrome.13 Bardet-Biedl.syndrome
CEP290 80184 C2673874 Bardet-Biedl.syndrome.14 Bardet-Biedl.syndrome
WDPCP 51057 C3150127 Bardet-Biedl.syndrome.15 Bardet-Biedl.syndrome
SDCCAG8 10806 CN120370 Bardet-Biedl.syndrome.16 Bardet-Biedl.syndrome
LZTFL1 54585 CN220306 Bardet-Biedl.syndrome.17 Bardet-Biedl.syndrome
IFT27 11020 CN220296 Bardet-Biedl.syndrome.19 Bardet-Biedl.syndrome
BBS2 583 C2936863 Bardet-Biedl.syndrome.2 Bardet-Biedl.syndrome
ARL6 84100 C1859564 Bardet-Biedl.syndrome.3 Bardet-Biedl.syndrome
BBS4 585 C2936864 Bardet-Biedl.syndrome.4 Bardet-Biedl.syndrome
BBS5 129880 CN043026 Bardet-Biedl.syndrome.5 Bardet-Biedl.syndrome
MKKS 8195 C1858054 Bardet-Biedl.syndrome.6 Bardet-Biedl.syndrome
BBS7 55212 C1859565 Bardet-Biedl.syndrome.7 Bardet-Biedl.syndrome
TTC8 123016 C1859566 Bardet-Biedl.syndrome.8 Bardet-Biedl.syndrome
BBS9 27241 C1859567 Bardet-Biedl.syndrome.9 Bardet-Biedl.syndrome
RFXANK 8625 C1859535 "BARE.LYMPHOCYTE.SYNDROME,.TYPE.II,.COMPLEMENTATION.GROUP.B" "BARE.LYMPHOCYTE.SYNDROME,.TYPE.II,.COMPLEMENTATION.GROUP.B"
RFX5 5993 C1859536 "BARE.LYMPHOCYTE.SYNDROME,.TYPE.II,.COMPLEMENTATION.GROUP.C" "BARE.LYMPHOCYTE.SYNDROME,.TYPE.II,.COMPLEMENTATION.GROUP.C"
RFXAP 5994 C1859537 "Bare.Lymphocyte.Syndrome,.Type.II,.Complementation.Group.D" "Bare.Lymphocyte.Syndrome,.Type.II,.Complementation.Group.D"
TAP1 6890 C1858266 Bare.lymphocyte.syndrome.type.1 Bare.lymphocyte.syndrome.type.1
TAP2 6891 C1858266 Bare.lymphocyte.syndrome.type.1 Bare.lymphocyte.syndrome.type.1
TAPBP 6892 C1858266 Bare.lymphocyte.syndrome.type.1 Bare.lymphocyte.syndrome.type.1
CIITA 4261 C1859534 "Bare.lymphocyte.syndrome.type.2,.complementation.group.A" "Bare.lymphocyte.syndrome.type.2,.complementation.group.A"
RFX5 5993 C1859538 "Bare.lymphocyte.syndrome.type.2,.complementation.group.E" "Bare.lymphocyte.syndrome.type.2,.complementation.group.E"
CLCNKB 1188 C1846344 "Bartter.syndrome,.type.3,.with.hypocalciuria" "Bartter.syndrome,.type.3,.with.hypocalciuria"
CLCNKA 1187 C2751312 "Bartter.syndrome,.type.4b" "Bartter.syndrome,.type.4b"
CLCNKB 1188 C2751312 "Bartter.syndrome,.type.4b" "Bartter.syndrome,.type.4b"
SLC12A1 6557 C1866495 Bartter.syndrome.antenatal.type.1 Bartter.syndrome.antenatal.type.1
KCNJ1 3758 C1855849 Bartter.syndrome.antenatal.type.2 Bartter.syndrome.antenatal.type.2
CLCNKB 1188 C1846343 Bartter.syndrome.type.3 Bartter.syndrome.type.3
BSND 7809 C1865270 Bartter.syndrome.type.4 Bartter.syndrome.type.4
TP53 7157 C3553606 "Basal.cell.carcinoma,.susceptibility.to,.7" "Basal.cell.carcinoma,.susceptibility.to,.8"
PDGFRB 5159 C3554321 "Basal.ganglia.calcification,.idiopathic,.4" "Basal.ganglia.calcification,.idiopathic,.4"
XPR1 9213 CN231252 "BASAL.GANGLIA.CALCIFICATION,.IDIOPATHIC,.6" "BASAL.GANGLIA.CALCIFICATION,.IDIOPATHIC,.6"
SLC19A3 80704 C1843807 "Basal.ganglia.disease,.biotin-responsive" "Basal.ganglia.disease,.biotin-responsive"
CFH 3075 C0730295 Basal.laminar.drusen Basal.laminar.drusen
MED25 81857 CN231442 BASEL-VANAGAITE-SMIRIN-YOSEF.SYNDROME BASEL-VANAGAITE-SMIRIN-YOSEF.SYNDROME
CARD11 84433 CN231446 B-CELL.EXPANSION.WITH.NFKB.AND.T-CELL.ANERGY B-CELL.EXPANSION.WITH.NFKB.AND.T-CELL.ANERGY
KRT81 3887 C0546966 Beaded.hair Beaded.hair
KRT83 3889 C0546966 Beaded.hair Beaded.hair
KRT86 3892 C0546966 Beaded.hair Beaded.hair
THOC6 79228 C3150939 Beaulieu-Boycott-Innes.syndrome Beaulieu-Boycott-Innes.syndrome
DMD 1756 C0917713 Becker.muscular.dystrophy Becker.muscular.dystrophy
CDKN1C 1028 C0004903 Beckwith-Wiedemann.syndrome Beckwith-Wiedemann.syndrome
H19 283120 C0004903 Beckwith-Wiedemann.syndrome Beckwith-Wiedemann.syndrome
KCNQ1OT1 10984 C0004903 Beckwith-Wiedemann.syndrome Beckwith-Wiedemann.syndrome
MRPL23 6150 C0004903 Beckwith-Wiedemann.syndrome Beckwith-Wiedemann.syndrome
NSD1 64324 C0004903 Beckwith-Wiedemann.syndrome Beckwith-Wiedemann.syndrome
COL4A3 1285 C0241908 Benign.familial.hematuria Benign.familial.hematuria
COL4A4 1286 C0241908 Benign.familial.hematuria Benign.familial.hematuria
KCNQ2 3785 C1852587 Benign.familial.neonatal.seizures.1 Benign.familial.neonatal.seizures.1
KCNQ3 3786 C1852581 Benign.familial.neonatal.seizures.2 Benign.familial.neonatal.seizures.2
SCN2A 6326 C1843140 Benign.familial.neonatal-infantile.seizures Benign.familial.neonatal-infantile.seizures
NKX2-1 7080 C0393584 Benign.hereditary.chorea Benign.hereditary.chorea
ATP8B1 5205 C1855731 Benign.recurrent.intrahepatic.cholestasis.1 Benign.recurrent.intrahepatic.cholestasis.1
ABCB11 8647 C2608083 Benign.recurrent.intrahepatic.cholestasis.2 Benign.recurrent.intrahepatic.cholestasis.2
LMNA 4000 C0410190 Benign.scapuloperoneal.muscular.dystrophy.with.cardiomyopathy Benign.scapuloperoneal.muscular.dystrophy.with.cardiomyopathy
FGFR2 2263 C3281247 Bent.bone.dysplasia.syndrome Bent.bone.dysplasia.syndrome
PIGR 5284 C0017661 Berger.disease Berger.disease
GP9 2815 C0005129 Bernard.Soulier.syndrome Bernard.Soulier.syndrome
GP1BA 2811 C3278148 "Bernard-Soulier.syndrome,.type.A1" "Bernard-Soulier.syndrome,.type.A2"
GP1BA 2811 C2750610 "Bernard-Soulier.syndrome,.type.A2,.autosomal.dominant" "Bernard-Soulier.syndrome,.type.A2,.autosomal.dominant"
GP1BB 2812 C1856447 "Bernard-Soulier.syndrome,.type.B" "Bernard-Soulier.syndrome,.type.B"
GP9 2815 C1856448 Bernard-Soulier.syndrome.type.C Bernard-Soulier.syndrome.type.C
BEST1 7439 C2678493 "Bestrophinopathy,.autosomal.recessive" "Bestrophinopathy,.autosomal.recessive"
HBB 3043 C0005283 beta.Thalassemia beta.Thalassemia
HBB 3043 C0472767 Beta.thalassemia.intermedia Beta.thalassemia.intermedia
HBB 3043 C0599528 Beta.thalassemia.major Beta.thalassemia.major
HBB 3043 C0271980 beta^0^.Thalassemia beta^0^.Thalassemia
ADRB2 154 C1862282 "Beta-2-adrenoreceptor.agonist,.reduced.response.to" "Beta-2-adrenoreceptor.agonist,.reduced.response.to"
MANBA 4126 C0342849 Beta-D-mannosidosis Beta-D-mannosidosis
HEXA 3073 CN068777 "Beta-hexosaminidase.a,.pseudodeficiency.of" "Beta-hexosaminidase.a,.pseudodeficiency.of"
HIBCH 26275 C0342738 Beta-hydroxyisobutyryl-CoA.deacylase.deficiency Beta-hydroxyisobutyryl-CoA.deacylase.deficiency
HBB 3043 C1858990 "Beta-thalassemia,.dominant.inclusion.body.type" "Beta-thalassemia,.dominant.inclusion.body.type"
COL6A1 1291 C1834674 Bethlem.myopathy Bethlem.myopathy
COL6A2 1292 C1834674 Bethlem.myopathy Bethlem.myopathy
COL6A3 1293 C1834674 Bethlem.myopathy Bethlem.myopathy
COL12A1 1303 CN231483 BETHLEM.MYOPATHY.2 BETHLEM.MYOPATHY.3
CYP4V2 285440 C1859486 Bietti.crystalline.corneoretinal.dystrophy Bietti.crystalline.corneoretinal.dystrophy
FREM1 158326 C2750433 Bifid.nose.with.or.without.anorectal.and.renal.anomalies Bifid.nose.with.or.without.anorectal.and.renal.anomalies
HSD17B4 3295 C0342870 Bifunctional.peroxisomal.enzyme.deficiency Bifunctional.peroxisomal.enzyme.deficiency
GDF1 NA C0175707 Bilateral.right-sidedness.sequence Bilateral.right-sidedness.sequence
SLC10A2 6555 C2750087 "Bile.acid.malabsorption,.primary" "Bile.acid.malabsorption,.primary"
HSD3B7 80270 C1843116 "Bile.acid.synthesis.defect,.congenital,.1" "Bile.acid.synthesis.defect,.congenital,.1"
AKR1D1 6718 C1856127 "Bile.acid.synthesis.defect,.congenital,.2" "Bile.acid.synthesis.defect,.congenital,.2"
AMACR 23600 C1858328 "Bile.acid.synthesis.defect,.congenital,.4" "Bile.acid.synthesis.defect,.congenital,.4"
ABCD3 5825 CN228775 "Bile.acid.synthesis.defect,.congenital,.5" "Bile.acid.synthesis.defect,.congenital,.5"
UGT1A1 54658 C1866173 "Bilirubin,.serum.level.of,.quantitative.trait.locus.1" "Bilirubin,.serum.level.of,.quantitative.trait.locus.2"
BTD 686 C0220754 Biotinidase.deficiency Biotinidase.deficiency
CD207 50489 C3150657 Birbeck.granule.deficiency Birbeck.granule.deficiency
KCNK9 51305 C2676770 Birk.Barel.mental.retardation.dysmorphism.syndrome Birk.Barel.mental.retardation.dysmorphism.syndrome
FLCN 201163 CN221571 Birt-Hogg-Dub.syndrome Birt-Hogg-Dub.syndrome
RASGRP2 10235 CN189800 "Bleeding.disorder,.platelet-type,.18" "Bleeding.disorder,.platelet-type,.18"
PRKACG 5568 CN224992 "Bleeding.disorder,.platelet-type,.19" "Bleeding.disorder,.platelet-type,.19"
FOXL2 668 C0220663 "Blepharophimosis,.ptosis,.and.epicanthus.inversus" "Blepharophimosis,.ptosis,.and.epicanthus.inversus"
ARV1 64801 C0456909 Blindness Blindness
ART4 420 CN220464 "Blood.group,.Dombrock.system" Blood.group
GYPC 2995 CN221142 "Blood.group,.Gerbich.system" Blood.group
ABCG2 9429 C3280986 "Blood.group,.junior.system" Blood.group
SLC4A1 6521 C1832168 BLOOD.GROUP--FROESE Blood.group
KLF1 10661 C1292231 BLOOD.GROUP--LUTHERAN.INHIBITOR Blood.group
BSG 682 C1862209 BLOOD.GROUP--OK Blood.group
SLC4A1 6521 C1862191 BLOOD.GROUP--WALDNER.TYPE Blood.group
SLC4A1 6521 C1862190 BLOOD.GROUP--WRIGHT.ANTIGEN Blood.group
BLM 641 C0005859 Bloom.syndrome Bloom.syndrome
FFAR4 338557 C2675659 Body.mass.index.quantitative.trait.locus.10 BMI
PCSK1 5122 C2676498 Body.mass.index.quantitative.trait.locus.12 BMI
AQP7 364 CN130274 Body.mass.index.quantitative.trait.locus.17 BMI
UCP2 7351 C1843898 Body.mass.index.quantitative.trait.locus.4 BMI
MC3R 4159 C2677162 Body.mass.index.quantitative.trait.locus.9 BMI
PLOD3 8985 C2676285 "Bone.fragility.with.contractures,.arterial.rupture,.and.deafness" "Bone.fragility.with.contractures,.arterial.rupture,.and.deafness"
SRP72 6731 C3808553 "Bone.marrow.failure,.familial" "Bone.marrow.failure,.familial"
ERCC6L2 375748 C3810350 Bone.marrow.failure.syndrome.2 Bone.marrow.failure.syndrome.3
LRP5 4041 C1866079 Bone.mineral.density.quantitative.trait.locus.1 Bone.mineral.density
UGT2B17 7367 C2675513 Bone.mineral.density.quantitative.trait.locus.12 Bone.mineral.density
CALCR 799 C2677169 Bone.mineral.density.quantitative.trait.locus.15 Bone.mineral.density
MIR2861 100422910 C2677169 Bone.mineral.density.quantitative.trait.locus.15 Bone.mineral.density
PDLIM4 8572 C2677169 Bone.mineral.density.quantitative.trait.locus.15 Bone.mineral.density
WNT1 7471 CN169511 Bone.mineral.density.quantitative.trait.locus.16 Bone.mineral.density
LGR4 55366 C3714987 Bone.mineral.density.quantitative.trait.locus.17 Bone.mineral.density
PLS3 5358 C3806712 Bone.mineral.density.quantitative.trait.locus.18 Bone.mineral.density
FLNB 2317 C0432201 Boomerang.dysplasia Boomerang.dysplasia
PHF6 84295 C0265339 Borjeson-Forssman-Lehmann.syndrome Borjeson-Forssman-Lehmann.syndrome
SH3PXD2B 285590 C1859406 Borrone.Di.Rocco.Crovato.syndrome Borrone.Di.Rocco.Crovato.syndrome
NR2F1 7025 C3810363 Bosch-boonstra-schaaf.optic.atrophy.syndrome Bosch-boonstra-schaaf.optic.atrophy.syndrome
HOXA1 3198 C1832216 Bosley-Salih-Alorainy.syndrome Bosley-Salih-Alorainy.syndrome
PNPLA6 10908 C1859093 Boucher.Neuhauser.syndrome Boucher.Neuhauser.syndrome
EMG1 10436 C1859405 Bowen-Conradi.syndrome Bowen-Conradi.syndrome
GDF5 8200 C3554446 "BRACHYDACTYLY,.TYPE.A1,.C" BRACHYDACTYLY
ROR2 4920 CN221286 "Brachydactyly,.type.B1Robinow.syndrome,.autosomal.recessive" BRACHYDACTYLY
IHH 3549 C1862151 Brachydactyly.type.A1 BRACHYDACTYLY
BMP2 650 C1832702 Brachydactyly.type.A2 BRACHYDACTYLY
BMPR1B 658 C1832702 Brachydactyly.type.A2 BRACHYDACTYLY
GDF5 8200 C1832702 Brachydactyly.type.A2 BRACHYDACTYLY
ROR2 4920 C1862112 Brachydactyly.type.B1 BRACHYDACTYLY
NOG 9241 C1969652 Brachydactyly.type.B2 BRACHYDACTYLY
GDF5 8200 C1862103 Brachydactyly.type.C BRACHYDACTYLY
HOXD13 3239 C0220664 Brachydactyly.type.D BRACHYDACTYLY
PTHLH 5744 C3150644 Brachydactyly.type.E2 BRACHYDACTYLY
PDE3A 5139 C1862170 Brachydactyly.with.hypertension BRACHYDACTYLY
HDAC4 9759 C1838126 Brachydactyly-Mental.Retardation.syndrome BRACHYDACTYLY
HOXD13 3239 C1853137 Brachydactyly-syndactyly.syndrome BRACHYDACTYLY
TRPV4 59341 C0432227 Brachyrachia.(short.spine.dysplasia) Brachyrachia.(short.spine.dysplasia)
AMPD2 271 C0266449 Brain.malformation Brain.malformation
COL4A1 1282 C1843512 Brain.small.vessel.disease.with.hemorrhage Brain.small.vessel.disease.with.hemorrhage
BCKDK 10295 C3554078 Branched-chain.ketoacid.dehydrogenase.kinase.deficiency Branched-chain.ketoacid.dehydrogenase.kinase.deficiency
TFAP2A 7020 C0376524 Branchiooculofacial.syndrome Branchiooculofacial.syndrome
EYA1 2138 C1865143 Branchiootic.syndrome Branchiootic.syndrome
SIX1 6495 C1842124 Branchiootic.syndrome.3 Branchiootic.syndrome.3
SIX5 147912 C1970479 Branchiootorenal.syndrome.2 Branchiootorenal.syndrome.2
BRCA1 672 C0677776 BRCA1.and.BRCA2.Hereditary.Breast.and.Ovarian.Cancer Breast.and.Ovarian.Cancer
BRCA1 672 C0677776 BRCA1.and.BRCA2.Hereditary.Breast.and.Ovarian.Cancer Breast.and.Ovarian.Cancer
BRCA2 675 C0677776 BRCA1.and.BRCA2.Hereditary.Breast.and.Ovarian.Cancer Breast.and.Ovarian.Cancer
PIK3CA 5290 C0858252 Breast.adenocarcinoma Breast.Cancer
RB1CC1 9821 C0858252 Breast.adenocarcinoma Breast.Cancer
SLC22A18 5002 C0858252 Breast.adenocarcinoma Breast.Cancer
TP53 7157 C0858252 Breast.adenocarcinoma Breast.Cancer
ATM 472 CN068837 "Breast.cancer,.early-onset" Breast.Cancer
BRIP1 83990 CN068837 "Breast.cancer,.early-onset" Breast.Cancer
CDH1 999 CN178073 "Breast.cancer,.lobular" Breast.Cancer
CHEK2 11200 CN068448 "Breast.cancer,.susceptibility.to" Breast.Cancer
PHB 5245 CN068448 "Breast.cancer,.susceptibility.to" Breast.Cancer
XRCC3 7517 CN068448 "Breast.cancer,.susceptibility.to" Breast.Cancer
PRC1 9055 CN002714 Breast.carcinoma Breast.Cancer
BRCA1 672 C2676676 "Breast-ovarian.cancer,.familial.1" Breast.and.Ovarian.Cancer
BRCA2 675 C2675520 "Breast-ovarian.cancer,.familial.2" Breast.and.Ovarian.Cancer
RAD51C 5889 C3150659 "Breast-ovarian.cancer,.familial.3" Breast.and.Ovarian.Cancer
RAD51D 5892 C3280345 "Breast-ovarian.cancer,.familial.4" Breast.and.Ovarian.Cancer
PTPRF 5792 CN219250 "Breasts.and/or.nipples,.aplasia.or.hypoplasia.of,.2" "Breasts.and/or.nipples,.aplasia.or.hypoplasia.of,.2"
PRDM5 11107 C3280011 Brittle.cornea.syndrome.2 Brittle.cornea.syndrome.2
ATP2A1 487 C1832918 Brody.myopathy Brody.myopathy
SCNN1B 6338 C0006267 Bronchiectasis Bronchiectasis
SCNN1A 6337 C2751666 Bronchiectasis.with.or.without.elevated.sweat.chloride.2 Bronchiectasis.with.or.without.elevated.sweat.chloride.2
SCNN1G 6340 C2751324 Bronchiectasis.with.or.without.elevated.sweat.chloride.3 Bronchiectasis.with.or.without.elevated.sweat.chloride.3
SLC52A3 113278 C0796274 Brown-Vialetto-Van.laere.syndrome Brown-Vialetto-Van.laere.syndrome
SLC52A2 79581 C3553538 Brown-Vialetto-Van.Laere.syndrome.2 Brown-Vialetto-Van.Laere.syndrome.2
FKBP10 60681 C1850168 Bruck.syndrome.1 Bruck.syndrome.1
PLOD2 5352 C1836602 Bruck.syndrome.2 Bruck.syndrome.2
ANK2 287 C1142166 Brugada.syndrome Brugada.syndrome
CACNA1C 775 C1142166 Brugada.syndrome Brugada.syndrome
CACNB2 783 C1142166 Brugada.syndrome Brugada.syndrome
GPD1L 23171 C1142166 Brugada.syndrome Brugada.syndrome
HCN4 10021 C1142166 Brugada.syndrome Brugada.syndrome
KCNE3 10008 C1142166 Brugada.syndrome Brugada.syndrome
MYBPC3 4607 C1142166 Brugada.syndrome Brugada.syndrome
SCN3B 55800 C1142166 Brugada.syndrome Brugada.syndrome
SCN5A 6331 C1142166 Brugada.syndrome Brugada.syndrome
SNTA1 6640 C1142166 Brugada.syndrome Brugada.syndrome
CACNA1C 775 CN221547 Brugada.syndrome.(shorter-than-normal.QT.interval) Brugada.syndrome
SCN5A 6331 CN029323 Brugada.syndrome.1 Brugada.syndrome
GPD1L 23171 C2673193 Brugada.syndrome.2 Brugada.syndrome
CACNB2 783 C2678477 Brugada.syndrome.4 Brugada.syndrome
SCN1B 6324 C2748541 Brugada.syndrome.5 Brugada.syndrome
HCN4 10021 C2751083 Brugada.syndrome.8 Brugada.syndrome
KCND3 3752 CN231147 Brugada.syndrome.9 Brugada.syndrome
AR 367 C1839259 Bulbo-spinal.atrophy.X-linked Bulbo-spinal.atrophy.X-linked
KRT1 3848 C0079153 Bullous.ichthyosiform.erythroderma Bullous.ichthyosiform.erythroderma
KRT10 3858 C0079153 Bullous.ichthyosiform.erythroderma Bullous.ichthyosiform.erythroderma
PROM1 8842 C0339512 Bull's.eye.macular.dystrophy Bull's.eye.macular.dystrophy
MYC 4609 C0006413 Burkitt.lymphoma Burkitt.lymphoma
TXNL4A 10907 C1837822 Burn-Mckeown.syndrome Burn-Mckeown.syndrome
SLC11A1 6556 C1864868 "Buruli.ulcer,.susceptibility.to" "Buruli.ulcer,.susceptibility.to"
BCHE 590 C1867469 "Butyrylcholinesterase.deficiency,.fluoride-resistant,.japanese.type" "Butyrylcholinesterase.deficiency,.fluoride-resistant,.japanese.type"
CD96 10225 C0796095 C.syndrome C.syndrome
C1QA 712 C3150902 C1q.deficiency C1q.deficiency
C1QB 713 C3150902 C1q.deficiency C1q.deficiency
C1QC 714 C3150902 C1q.deficiency C1q.deficiency
C3 718 C1332655 C3.deficiency C3.deficiency
OR2J3 442186 C3554456 "C3HEX,.ability.to.smell" "C3HEX,.ability.to.smell"
C6 729 C2676233 "C6.deficiency,.subtotal" "C6.deficiency,.subtotal"
NF1 4763 C0553586 Caf??-au-lait.macules.with.pulmonary.stenosis Caf??-au-lait.macules.with.pulmonary.stenosis
NT5E 4907 C1859372 Calcification.of.joints.and.arteries Calcification.of.joints.and.arteries
AHSG 197 C1833683 Calcium.oxalate.urolithiasis Calcium.oxalate.urolithiasis
BGLAP 632 C1833683 Calcium.oxalate.urolithiasis Calcium.oxalate.urolithiasis
CD44 960 C1833683 Calcium.oxalate.urolithiasis Calcium.oxalate.urolithiasis
HAO1 54363 C1833683 Calcium.oxalate.urolithiasis Calcium.oxalate.urolithiasis
SOX9 6662 C1842462 Campomelic.dysplasia.with.autosomal.sex.reversal Campomelic.dysplasia.with.autosomal.sex.reversal
FGFR3 2261 C1864852 "Camptodactyly,.tall.stature,.and.hearing.loss.syndrome" "Camptodactyly,.tall.stature,.and.hearing.loss.syndrome"
PRG4 10216 C1859690 Camptodactyly.arthropathy.coxa.vara.pericarditis.syndrome Camptodactyly.arthropathy.coxa.vara.pericarditis.syndrome
SOX9 6662 C1861922 Camptomelic.dysplasia Camptomelic.dysplasia
ASPA 443 CN068568 "Canavan.disease,.mild" "Canavan.disease,.mild"
CARD9 64170 C1859353 "Candidiasis,.familial,.2" "Candidiasis,.familial,.2"
IL17RA 23765 C3151402 "Candidiasis,.familial,.5" "Candidiasis,.familial,.5"
IL17F 112744 C3151405 "Candidiasis,.familial,.6" "Candidiasis,.familial,.6"
TRAF3IP2 10758 C3714992 "Candidiasis,.familial,.8" "Candidiasis,.familial,.8"
TPM2 7169 CN178537 Cap.myopathy.2 Cap.myopathy.2
RASA1 5921 C2675370 Capillary.malformation.without.arteriovenous.malformation Capillary.malformation.without.arteriovenous.malformation
RASA1 5921 C1842180 Capillary.malformation-arteriovenous.malformation Capillary.malformation-arteriovenous.malformation
HLA-A 3105 CN077825 Carbamazepine.hypersensitivity Carbamazepine.hypersensitivity
PMM2 5373 C0349653 Carbohydrate-deficient.glycoprotein.syndrome.type.I Carbohydrate-deficient.glycoprotein.syndrome.type.I
MGAT2 4247 C0349654 Carbohydrate-deficient.glycoprotein.syndrome.type.II Carbohydrate-deficient.glycoprotein.syndrome.type.II
CA5A 763 C3810404 "Carbonic.anhydrase.VA.deficiency,.hyperammonemia.due.to" "Carbonic.anhydrase.VA.deficiency,.hyperammonemia.due.to"
MEN1 4221 C0280089 Carcinoid.tumor.of.lung Carcinoid.tumor.of.lung
TP53 7157 C0302592 Carcinoma.of.cervix Carcinoma.of.cervix
AXIN2 8313 C0699790 Carcinoma.of.colon colorectal.cancer
BAX 581 C0699790 Carcinoma.of.colon colorectal.cancer
BCL10 8915 C0699790 Carcinoma.of.colon colorectal.cancer
BRAF 673 C0699790 Carcinoma.of.colon colorectal.cancer
BUB1 699 C0699790 Carcinoma.of.colon colorectal.cancer
BUB1B 701 C0699790 Carcinoma.of.colon colorectal.cancer
CTNNB1 1499 C0699790 Carcinoma.of.colon colorectal.cancer
DCC 1630 C0699790 Carcinoma.of.colon colorectal.cancer
DLC1 10395 C0699790 Carcinoma.of.colon colorectal.cancer
EP300 2033 C0699790 Carcinoma.of.colon colorectal.cancer
FGFR3 2261 C0699790 Carcinoma.of.colon colorectal.cancer
FLCN 201163 C0699790 Carcinoma.of.colon colorectal.cancer
FLT1 2321 C0699790 Carcinoma.of.colon colorectal.cancer
FLT4 2324 C0699790 Carcinoma.of.colon colorectal.cancer
KDR 3791 C0699790 Carcinoma.of.colon colorectal.cancer
MCC 4163 C0699790 Carcinoma.of.colon colorectal.cancer
MLH3 27030 C0699790 Carcinoma.of.colon colorectal.cancer
MUTYH 4595 C0699790 Carcinoma.of.colon colorectal.cancer
NRAS 4893 C0699790 Carcinoma.of.colon colorectal.cancer
PDGFRL 5157 C0699790 Carcinoma.of.colon colorectal.cancer
PPARG 5468 C0699790 Carcinoma.of.colon colorectal.cancer
PTPN12 5782 C0699790 Carcinoma.of.colon colorectal.cancer
PTPRJ 5795 C0699790 Carcinoma.of.colon colorectal.cancer
RAD54B 25788 C0699790 Carcinoma.of.colon colorectal.cancer
ACVR1B 91 C0235974 Carcinoma.of.pancreas pancreatic.cancer
RBBP8 5932 C0235974 Carcinoma.of.pancreas pancreatic.cancer
SMAD4 4089 C0235974 Carcinoma.of.pancreas pancreatic.cancer
STK11 6794 C0235974 Carcinoma.of.pancreas pancreatic.cancer
TP53 7157 C0235974 Carcinoma.of.pancreas pancreatic.cancer
CARD11 84433 C3554686 CARD11.immunodeficiency CARD11.immunodeficiency
AKAP9 10142 CN001541 Cardiac.arrest Cardiac.arrest
ANK2 287 CN001541 Cardiac.arrest Cardiac.arrest
CACNA2D1 781 CN001541 Cardiac.arrest Cardiac.arrest
CACNB2 783 CN001541 Cardiac.arrest Cardiac.arrest
DSC2 1824 CN001541 Cardiac.arrest Cardiac.arrest
DSP 1832 CN001541 Cardiac.arrest Cardiac.arrest
MYH6 4624 CN001541 Cardiac.arrest Cardiac.arrest
RYR2 6262 CN001541 Cardiac.arrest Cardiac.arrest
SCN5A 6331 C1861984 "Cardiac.conduction.defect,.nonprogressive" "Cardiac.conduction.defect,.nonprogressive"
SCN1B 6324 C2748542 "Cardiac.conduction.defect,.nonspecific" "Cardiac.conduction.defect,.nonspecific"
SCN5A 6331 C2748542 "Cardiac.conduction.defect,.nonspecific" "Cardiac.conduction.defect,.nonspecific"
TNNI3K 51086 CN221670 Cardiac.conduction.disease.with.or.without.dilated.cardiomyopathy Cardiac.conduction.disease.with.or.without.dilated.cardiomyopathy
FLNA 2316 C0262436 "Cardiac.valvular.dysplasia,.X-linked" "Cardiac.valvular.dysplasia,.X-linked"
SCO2 9997 C1858424 "Cardioencephalomyopathy,.fatal.infantile,.due.to.cytochrome.c.oxidase.deficiency" "Cardioencephalomyopathy,.fatal.infantile,.due.to.cytochrome.c.oxidase.deficiency"
COX15 1355 C3554534 "Cardioencephalomyopathy,.fatal.infantile,.due.to.cytochrome.c.oxidase.deficiency.2" "Cardioencephalomyopathy,.fatal.infantile,.due.to.cytochrome.c.oxidase.deficiency.2"
COA5 493753 CN231741 "CARDIOENCEPHALOMYOPATHY,.FATAL.INFANTILE,.DUE.TO.CYTOCHROME.c.OXIDASE.DEFICIENCY.3" "CARDIOENCEPHALOMYOPATHY,.FATAL.INFANTILE,.DUE.TO.CYTOCHROME.c.OXIDASE.DEFICIENCY.3"
COA6 388753 CN231742 "CARDIOENCEPHALOMYOPATHY,.FATAL.INFANTILE,.DUE.TO.CYTOCHROME.c.OXIDASE.DEFICIENCY.4" "CARDIOENCEPHALOMYOPATHY,.FATAL.INFANTILE,.DUE.TO.CYTOCHROME.c.OXIDASE.DEFICIENCY.4"
BRAF 673 C1275081 Cardio-facio-cutaneous.syndrome Cardio-facio-cutaneous.syndrome
KRAS 3845 C3809005 Cardiofaciocutaneous.syndrome.2 Cardiofaciocutaneous.syndrome.2
MAP2K1 5604 C3809006 Cardiofaciocutaneous.syndrome.3 Cardiofaciocutaneous.syndrome.3
MAP2K2 5605 C3809007 Cardiofaciocutaneous.syndrome.4 Cardiofaciocutaneous.syndrome.4
ABCC9 10060 C0878544 Cardiomyopathy Cardiomyopathy
ACTC1 70 CN001491 Cardiomyopathy Cardiomyopathy
ACTN2 88 C0878544 Cardiomyopathy Cardiomyopathy
ALMS1 7840 C0878544 Cardiomyopathy Cardiomyopathy
ANKRD1 27063 C0878544 Cardiomyopathy Cardiomyopathy
APOA1 335 C0878544 Cardiomyopathy Cardiomyopathy
CAV3 859 CN001491 Cardiomyopathy Cardiomyopathy
CAV3 859 C0878544 Cardiomyopathy Cardiomyopathy
CSRP3 8048 C0878544 Cardiomyopathy Cardiomyopathy
DES 1674 C0878544 Cardiomyopathy Cardiomyopathy
DSC2 1824 C0878544 Cardiomyopathy Cardiomyopathy
DSG2 1829 C0878544 Cardiomyopathy Cardiomyopathy
DSP 1832 C0878544 Cardiomyopathy Cardiomyopathy
DTNA 1837 C0878544 Cardiomyopathy Cardiomyopathy
EMD 2010 C0878544 Cardiomyopathy Cardiomyopathy
EYA4 2070 C0878544 Cardiomyopathy Cardiomyopathy
FKTN 2218 C0878544 Cardiomyopathy Cardiomyopathy
GATAD1 57798 C0878544 Cardiomyopathy Cardiomyopathy
GLA 2717 C0878544 Cardiomyopathy Cardiomyopathy
GPD1L 23171 C0878544 Cardiomyopathy Cardiomyopathy
HOPX 84525 C0878544 Cardiomyopathy Cardiomyopathy
ILK 3611 C0878544 Cardiomyopathy Cardiomyopathy
JPH2 57158 C0878544 Cardiomyopathy Cardiomyopathy
LAMP2 3920 C0878544 Cardiomyopathy Cardiomyopathy
LDB3 11155 C0878544 Cardiomyopathy Cardiomyopathy
LMNA 4000 C0878544 Cardiomyopathy Cardiomyopathy
MYBPC3 4607 CN001491 Cardiomyopathy Cardiomyopathy
MYH6 4624 C0878544 Cardiomyopathy Cardiomyopathy
MYH7 4625 CN001491 Cardiomyopathy Cardiomyopathy
MYH7 4625 C0878544 Cardiomyopathy Cardiomyopathy
MYL2 4633 CN001491 Cardiomyopathy Cardiomyopathy
MYL3 4634 CN001491 Cardiomyopathy Cardiomyopathy
MYLK2 85366 C0878544 Cardiomyopathy Cardiomyopathy
MYPN 84665 C0878544 Cardiomyopathy Cardiomyopathy
NEBL 10529 C0878544 Cardiomyopathy Cardiomyopathy
NEXN 91624 C0878544 Cardiomyopathy Cardiomyopathy
PDLIM3 27295 C0878544 Cardiomyopathy Cardiomyopathy
PKP2 5318 C0878544 Cardiomyopathy Cardiomyopathy
PLN 5350 C0878544 Cardiomyopathy Cardiomyopathy
PRKAG2 51422 C0878544 Cardiomyopathy Cardiomyopathy
RBM20 282996 C0878544 Cardiomyopathy Cardiomyopathy
RYR2 6262 C0878544 Cardiomyopathy Cardiomyopathy
SCN5A 6331 C0878544 Cardiomyopathy Cardiomyopathy
SGCD 6444 C0878544 Cardiomyopathy Cardiomyopathy
TCAP 8557 C0878544 Cardiomyopathy Cardiomyopathy
TMEM43 79188 C0878544 Cardiomyopathy Cardiomyopathy
TMPO 7112 C0878544 Cardiomyopathy Cardiomyopathy
TNNC1 7134 CN001491 Cardiomyopathy Cardiomyopathy
TNNI3 7137 CN001491 Cardiomyopathy Cardiomyopathy
TNNI3 7137 C0878544 Cardiomyopathy Cardiomyopathy
TNNT2 7139 C0878544 Cardiomyopathy Cardiomyopathy
TNNT2 7139 CN001491 Cardiomyopathy Cardiomyopathy
TPM1 7168 C0878544 Cardiomyopathy Cardiomyopathy
TPM1 7168 CN001491 Cardiomyopathy Cardiomyopathy
TTN 7273 C0878544 Cardiomyopathy Cardiomyopathy
TTR 7276 C0878544 Cardiomyopathy Cardiomyopathy
TTR 7276 CN001491 Cardiomyopathy Cardiomyopathy
VCL 7414 C0878544 Cardiomyopathy Cardiomyopathy
DSC2 1824 CN231087 "Cardiomyopathy,.arrhythmogenic.right.ventricular.dysplasia" Cardiomyopathy
RAF1 5894 CN219641 "Cardiomyopathy,.dilated,.1NN" Cardiomyopathy
PSEN1 5663 C3160720 "Cardiomyopathy,.dilated,.1u" Cardiomyopathy
GATAD1 57798 C3553409 "Cardiomyopathy,.dilated,.2b" Cardiomyopathy
DSP 1832 CN221269 "Cardiomyopathy,.dilated,.with.woolly.hair,.keratoderma,.and.tooth.agenesis" Cardiomyopathy
MYBPC3 4607 C2751427 "Cardiomyopathy,.familial.hypertrophic,.4,.susceptibility.to" Cardiomyopathy
MYPN 84665 CN169883 "Cardiomyopathy,.familial.restrictive,.4" Cardiomyopathy
MYH7 4625 CN068809 "Cardiomyopathy,.hypertrophic,.midventricular,.digenic" Cardiomyopathy
MYLK2 85366 CN068809 "Cardiomyopathy,.hypertrophic,.midventricular,.digenic" Cardiomyopathy
MT-TL2 4568 CN069296 "Cardiomyopathy,.mitochondrial" Cardiomyopathy
CACNA1C 775 C0007196 "Cardiomyopathy,.restrictive" Cardiomyopathy
DSP 1832 C0007196 "Cardiomyopathy,.restrictive" Cardiomyopathy
MYH7 4625 C0007196 "Cardiomyopathy,.restrictive" Cardiomyopathy
SYNE2 23224 C0007196 "Cardiomyopathy,.restrictive" Cardiomyopathy
TNNI3 7137 C0007196 "Cardiomyopathy,.restrictive" Cardiomyopathy
DSP 1832 C1854063 Cardiomyopathy.dilated.with.woolly.hair.and.keratoderma Cardiomyopathy
MT-TL1 4567 CN069301 Cardiomyopathy.with.or.without.skeletal.myopathy Cardiomyopathy
COLEC11 78989 C0796279 Carnevale.syndrome Carnevale.syndrome
PRKAR1A 5573 C0406810 Carney.complex Carney.complex
PRKAR1A 5573 C2607929 "Carney.complex,.type.1" "Carney.complex,.type.2"
SDHA 6389 C1858592 Carney.triad Carney.triad
SDHC 6391 C1858592 Carney.triad Carney.triad
SLC25A20 788 C0342791 Carnitine.acylcarnitine.translocase.deficiency Carnitine.acylcarnitine.translocase.deficiency
CPT1A 1374 C0342789 Carnitine.palmitoyltransferase.I.deficiency Carnitine.palmitoyltransferase.I.deficiency
CPT2 1376 C1833511 "Carnitine.palmitoyltransferase.II.deficiency,.infantile" "Carnitine.palmitoyltransferase.II.deficiency,.infantile"
CPT2 1376 C1833508 "CARNITINE.PALMITOYLTRANSFERASE.II.DEFICIENCY,.LATE-ONSET" "CARNITINE.PALMITOYLTRANSFERASE.II.DEFICIENCY,.LATE-ONSET"
CPT2 1376 C1833518 "CARNITINE.PALMITOYLTRANSFERASE.II.DEFICIENCY,.LETHAL.NEONATAL" "CARNITINE.PALMITOYLTRANSFERASE.II.DEFICIENCY,.LETHAL.NEONATAL"
SDHD 6392 C0007279 Carotid.body.paraganglioma Carotid.body.paraganglioma
HABP2 3026 C1858964 "Carotid.stenosis,.susceptibility.to" "Carotid.stenosis,.susceptibility.to"
RAB23 51715 C1275078 Carpenter.syndrome.1 Carpenter.syndrome.1
MEGF8 1954 C3554247 Carpenter.syndrome.2 Carpenter.syndrome.2
CASP8 841 C1846545 Caspase-8.deficiency Caspase-8.deficiency
EIF3G 8666 C0751362 Cataplexy.and.narcolepsy Cataplexy.and.narcolepsy
P2RY11 5032 C0751362 Cataplexy.and.narcolepsy Cataplexy.and.narcolepsy
PPAN 56342 C0751362 Cataplexy.and.narcolepsy Cataplexy.and.narcolepsy
IARS2 55699 C1962983 Cataract Cataract
CRYAA 1409 C1858679 "Cataract,.autosomal.dominant" Cataract
BFSP2 8419 C1969032 "Cataract,.autosomal.dominant,.multiple.types.1" Cataract
FYCO1 79443 C1864908 "Cataract,.autosomal.recessive.congenital.2" Cataract
TDRD7 23424 C3151304 "Cataract,.autosomal.recessive.congenital.4" Cataract
AGK 55750 C3553494 "Cataract,.autosomal.recessive.congenital.5" Cataract
PITX3 5309 C0009691 "Cataract,.congenital" Cataract
CRYBB3 1417 C1857853 "Cataract,.congenital.nuclear,.autosomal.recessive.2" Cataract
CRYBB1 1414 C1969062 "Cataract,.congenital.nuclear,.autosomal.recessive.3" Cataract
CRYBA1 1411 C1833229 "Cataract,.congenital.zonular,.with.sutural.opacities" Cataract
CRYGC 1420 C1852438 "Cataract,.coppock-like" Cataract
BFSP1 631 C1969644 "Cataract,.cortical,.juvenile-onset" Cataract
SLC16A12 387700 C2677587 "Cataract,.juvenile,.with.microcornea.and.glucosuria" Cataract
CRYGS 1427 C0524524 "Cataract,.membranous" Cataract
SIX6 4990 C1859311 "Cataract,.microphthalmia.and.nystagmus" Cataract
VIM 7431 C1861827 "Cataract,.nuclear.diffuse.nonprogressive" Cataract
WFS1 7466 C1861826 "Cataract,.nuclear.total" Cataract
CHMP4B 128866 C1854311 "Cataract,.posterior.polar,.3" Cataract
MAF 4094 C1857768 "Cataract,.pulverulent,.juvenile-onset" Cataract
HSF4 3299 C0266537 "Cataract,.zonular" Cataract
GJA8 2703 C1861828 Cataract.1 Cataract
MIP 4284 C3809001 "Cataract.15,.multiple.types" Cataract
LIM2 3982 C3809004 Cataract.19 Cataract
CRYBA4 1413 C1864879 Cataract.23 Cataract
CRYBB2 1415 C1832175 Cataract.3 Cataract
CRYGB 1419 C3808800 "Cataract.39,.multiple.types" Cataract
CRYGD 1421 C1861832 Cataract.4 Cataract
NHS 4810 C2752078 Cataract.40 Cataract
UNC45B 146862 CN228776 CATARACT.43 Cataract
EPHA2 1969 C1861825 Cataract.6 Cataract