Transport of inorganic cations/anions and amino acids/oligopeptides

Pathway network for the Transport of inorganic cations/anions and amino acids/oligopeptides SuperPath

Sources:
  • Reactome

Pathways in the Transport of inorganic cations/anions and amino acids/oligopeptides SuperPath

#NameSourceGenes
1Transport of inorganic cations/anions and amino acids/oligopeptidesReactome
(see all 109) (see less)
2Transport of small moleculesReactome
(see all 718) (see less)
3SLC-mediated transmembrane transportReactome
(see all 246) (see less)
4Transport of bile salts and organic acids, metal ions and amine compoundsReactome
(see all 84) (see less)
5Amino acid transport across the plasma membraneReactome
(see all 33) (see less)
6Na+/Cl- dependent neurotransmitter transportersReactome
(see all 19) (see less)
7Organic cation/anion/zwitterion transportReactome
(see all 15) (see less)
8Sodium/Calcium exchangersReactome
(see all 13) (see less)
9Organic anion transportersReactome
(see all 12) (see less)
10Bicarbonate transportersReactome
(see all 10) (see less)
11Organic cation transportReactome
(see all 10) (see less)
12Multifunctional anion exchangersReactome
(see all 9) (see less)
13Sodium/Proton exchangersReactome
(see all 9) (see less)
14Cation-coupled Chloride cotransportersReactome
(see all 7) (see less)
15Proton-coupled monocarboxylate transportReactome
(see all 6) (see less)
16Organic anion transportReactome
17Sodium-coupled phosphate cotransportersReactome
18Sodium-coupled sulphate, di- and tri-carboxylate transportersReactome
19Inositol transportersReactome
20Rhesus glycoproteins mediate ammonium transportReactome
21Type II Na+/Pi cotransportersReactome
22Proton/oligopeptide cotransportersReactome
23Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT)Reactome
24Proton-coupled neutral amino acid transportersReactome
25Defective SLC22A12 causes renal hypouricemia 1 (RHUC1)Reactome
26Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1)Reactome
27Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)Reactome
28Defective SLC26A4 causes Pendred syndrome (PDS)Reactome
29Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)Reactome
30Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA)Reactome
31Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)Reactome
32Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)Reactome
33Defective SLC17A5 causes Salla disease (SD) and ISSDReactome
34Variant SLC6A14 may confer susceptibility towards obesityReactome
35Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN)Reactome
36Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG)Reactome
37Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH)Reactome
38Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1)Reactome
39Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25)Reactome
40Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1)Reactome
41Defective SLC9A9 causes autism 16 (AUTS16)Reactome
42Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6)Reactome
43Defective SLC12A1 causes Bartter syndrome 1 (BS1)Reactome
44Defective SLC22A18 causes lung cancer (LNCR) and embryonal rhabdomyosarcoma 1 (RMSE1)Reactome
45Defective SLC12A3 causes Gitelman syndrome (GS)Reactome

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

Disorders associated with Transport of inorganic cations/anions and amino acids/oligopeptides SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Inherited metabolic disorderDirect
2Acquired metabolic diseaseDirect
3Basal ganglia cerebrovascular diseaseDirect
4NeuropathyDirect
5Sensorineural hearing lossDirect
6GoiterDirect
7Hypophosphatemic rickets, x-linked dominantDirect
8Renal tubular acidosisDirect
9Carnitine deficiency, systemic primaryDirect
10Amelogenesis imperfectaDirect
11Body mass index quantitative trait locus 11Direct
12Hemolytic disease of fetus and newborn, rh-inducedDirect
13Amino acid metabolic disorderDirect
14Syndromic intellectual disabilityDirect
15HypophosphatemiaDirect
16NephrolithiasisDirect
17Renal tubular transport diseaseDirect
18Autosomal dominant nonsyndromic deafnessDirect
19Secretory diarrheaDirect
20AutismDirect
21Oculocutaneous albinismDirect
22Bartter diseaseDirect
23Lung cancerDirect
24RhabdomyosarcomaDirect
25Gitelman syndromeDirect
26IminoglycinuriaEnrichmentSLC36A2, SLC6A18, SLC6A19, SLC6A2010.23
27Lipid metabolism disorderEnrichmentABCG5, ABCG8, APOE, CETP, LDLR, LIPC7.67
28Hypophosphatemic rickets with hypercalciuria, hereditaryEnrichmentSLC34A1, SLC34A37.49
29Nephrolithiasis/osteoporosis, hypophosphatemic, 1EnrichmentSLC34A1, SLC34A37.49
30Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM37.42
31Homozygous familial hypercholesterolemiaEnrichmentABCG5, ABCG8, APOB, LDLR, LDLRAP1, PCSK96.26
32Renal tubular acidosis, distal, 1EnrichmentATP6V0A4, ATP6V1B1, ATP6V1C2, SLC4A1, SLC4A25.63
33Distal renal tubular acidosisEnrichmentATP6V0A4, ATP6V1B1, ATP6V1C2, SLC4A1, SLC4A25.63
34Long qt syndrome 1EnrichmentCALM1, CALM2, CALM35.56
35HyperglycinuriaEnrichmentSLC36A2, SLC6A195.24
36Idiopathic bronchiectasisEnrichmentCFTR, SCNN1A, SCNN1B, SCNN1G5.11
37CystinuriaEnrichmentSLC3A1, SLC7A94.46
38OsteopetrosisEnrichmentCA2, CLCN7, OSTM1, TCIRG14.43
39Myasthenic syndrome, congenital, 20, presynapticEnrichmentSLC22A5, SLC5A74.42
40Coronary heart disease 5EnrichmentABCA1, ABCG5, ABCG8, APOB, LDLR4.36
41NephrocalcinosisEnrichmentSLC12A1, SLC34A1, SLC3A14.24
42Familial hypercholesterolemiaEnrichmentAPOA2, APOB, APOE, LDLR, LDLRAP1, PCSK94.15
43Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM1, CASQ2, RYR2, TRDN3.97
44Hyperalphalipoproteinemia 1EnrichmentAPOC3, CETP, SCARB13.83
45Liddle syndrome 1EnrichmentSCNN1A, SCNN1B, SCNN1G3.83
46Pseudohypoaldosteronism, type ib1, autosomal recessiveEnrichmentSCNN1A, SCNN1B, SCNN1G3.83
47Autosomal recessive cutis laxa type ii classic typeEnrichmentATP6V0A2, ATP6V1A, ATP6V1E13.83
48Bartter syndrome type 4EnrichmentBSND, CLCNKA, CLCNKB3.83
49Cystic fibrosisEnrichmentCFTR, CLCA4, HFE, HMOX1, SLC11A1, SLC26A9, SLC6A14, SLC9A33.70
50Overhydrated hereditary stomatocytosisEnrichmentRHAG3.66
51Rh-null, regulator typeEnrichmentRHAG3.66
52Pulmonary alveolar microlithiasisEnrichmentSLC34A23.66
53Fanconi renotubular syndrome 2EnrichmentSLC34A13.66
54Hypercalcemia, infantile, 2EnrichmentSLC34A13.66
55Autosomal recessive hypophosphatemic bone diseaseEnrichmentSLC34A33.66
56Familial renal hypouricemiaEnrichmentSLC22A12, SLC2A93.48
57Hypouricemia, renal, 1EnrichmentSLC22A123.43
58Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarateEnrichmentSLC13A33.43
59Developmental and epileptic encephalopathy 25 with amelogenesis imperfectaEnrichmentSLC13A53.43
60Long qt syndromeEnrichmentCALM1, CALM23.41
61Factor xii deficiencyEnrichmentSLC34A13.35
62Autosomal recessive infantile hypercalcemiaEnrichmentSLC34A13.35
63Dominant hypophosphatemia with nephrolithiasis or osteoporosisEnrichmentSLC34A13.35
64Erythrocyte lactate transporter defectEnrichmentSLC16A13.35
65Alternating hemiplegia of childhoodEnrichmentATP1A2, ATP1A3, SLC1A3, SLC2A13.34
66Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM1, CASQ2, RYR2, TRDN3.34
67Epilepsy, idiopathic generalized 14EnrichmentSLC12A53.29
68Delpire-mcneill syndromeEnrichmentSLC12A23.29
69Deafness, autosomal dominant 78EnrichmentSLC12A23.29
70Kilquist syndromeEnrichmentSLC12A23.29
71Diastrophic dysplasiaEnrichmentSLC26A23.18
72Atelosteogenesis, type iiEnrichmentSLC26A23.18
73Epiphyseal dysplasia, multiple, 4EnrichmentSLC26A23.18
74Diarrhea 1, secretory chloride, congenitalEnrichmentSLC26A33.18
75Achondrogenesis, type ibEnrichmentSLC26A23.18
76Intellectual developmental disorder, x-linked, syndromic, christianson typeEnrichmentSLC9A63.18
77Lichtenstein-knorr syndromeEnrichmentSLC9A13.18
78Neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairmentEnrichmentSLC9A63.18
79Autism 16EnrichmentSLC9A93.18
80Kohlschutter-tonz syndromeEnrichmentSLC13A53.13
81Blood group, diego systemEnrichmentSLC4A13.13
82Ovalocytosis, southeast asianEnrichmentSLC4A13.13
83Blood group--wright antigenEnrichmentSLC4A13.13
84Spherocytosis, type 4EnrichmentSLC4A13.13
85CryohydrocytosisEnrichmentSLC4A13.13
86Blood group--swann systemEnrichmentSLC4A13.13
87Osteopetrosis, autosomal recessive 9EnrichmentSLC4A23.13
88Short qt syndrome 7EnrichmentSLC4A33.13
89Neurodevelopmental disorder with hypotonia and characteristic brain abnormalitiesEnrichmentSLC4A103.13
90Rhabdomyosarcoma, embryonal, 1EnrichmentSLC67A13.13
91Hydrops fetalisEnrichmentRYR1, RYR3, SLC26A3, SLC30A53.10
92Primary fanconi renotubular syndromeEnrichmentSLC34A13.05
93Monocarboxylate transporter 1 deficiencyEnrichmentSLC16A13.05
94Hyperinsulinemic hypoglycemia, familial, 7EnrichmentSLC16A13.05
95Ketoacidosis due to monocarboxylate transporter-1 deficiencyEnrichmentSLC16A13.05
96Thyroid dyshormonogenesis 1EnrichmentSLC5A53.05
97Combined d-2- and l-2-hydroxyglutaric aciduriaEnrichmentSLC25A13.05
98Myasthenic syndrome, congenital, 23, presynapticEnrichmentSLC25A13.05
99Deafness, autosomal dominant 25EnrichmentSLC17A83.05
100Developmental and epileptic encephalopathy 3EnrichmentSLC25A223.05
101Mitochondrial dna depletion syndrome 19EnrichmentSLC25A103.05
1022-hydroxyglutaric aciduriaEnrichmentSLC25A13.05
103Pheochromocytoma/paraganglioma syndrome 6EnrichmentSLC25A113.05
104Skin/hair/eye pigmentation, variation in, 6EnrichmentSLC24A43.02
105Amelogenesis imperfecta, hypomaturation type, iia5EnrichmentSLC24A43.02
106Night blindness, congenital stationary, type 1dEnrichmentSLC24A13.02
107Long qt syndrome 16EnrichmentCALM33.02
108Long qt syndrome 15EnrichmentCALM23.02
109Hyperbilirubinemia, rotor typeEnrichmentSLCO1B1, SLCO1B33.01
110Fish-eye diseaseEnrichmentSLC12A42.99
111Lecithin:cholesterol acyltransferase deficiencyEnrichmentSLC12A42.99
112Developmental and epileptic encephalopathy 34EnrichmentSLC12A52.99
113Bartter syndrome, type 1, antenatalEnrichmentSLC12A12.99
114HypokalemiaEnrichmentSLC12A32.99
115MegacolonEnrichmentSLC6A6, SLC8A12.88
116Nephrolithiasis, calcium oxalate, 1EnrichmentSLC26A12.88
1173mc syndrome 2EnrichmentSLC26A22.88
118Hurler-scheie syndromeEnrichmentSLC26A12.88
119Scheie syndromeEnrichmentSLC26A12.88
120HypersulfaturiaEnrichmentSLC26A12.88
121Calcium oxalate nephrolithiasisEnrichmentSLC26A12.88
122Intestinal obstructionEnrichmentSLC26A32.88
123Intellectual developmental disorder, x-linked 108EnrichmentSLC9A72.88
124Diarrhea 8, secretory sodium, congenitalEnrichmentSLC9A32.88
125Hyperlipidemia, familial combined, 3EnrichmentAPOB, LDLR, LPL2.87
126Hypotaurinemic retinal degeneration and cardiomyopathyEnrichmentSLC6A62.85
127Parkinsonism-dystonia 1, infantile-onsetEnrichmentSLC6A32.85
128Hyperekplexia 3EnrichmentSLC6A52.85
129Glycine encephalopathy with normal serum glycineEnrichmentSLC6A92.85
130Postural orthostatic tachycardia syndromeEnrichmentSLC6A22.85
131Classic dopamine transporter deficiency syndromeEnrichmentSLC6A32.85
132Parkinsonism-dystonia, infantileEnrichmentSLC6A32.85
133Basal ganglia calcificationEnrichmentSLC20A22.83
134Proximal renal tubular acidosis-ocular anomaly syndromeEnrichmentSLC4A42.83
135Renal tubular acidosis, distal, 4, with hemolytic anemiaEnrichmentSLC4A12.83
136Autosomal recessive proximal renal tubular acidosisEnrichmentSLC4A42.83
137Storage pool platelet diseaseEnrichmentRUNX12.83
138Tafro syndromeEnrichmentRUNX12.83
139Agenesis of the corpus callosum with peripheral neuropathyEnrichmentSLC12A62.81
140Charcot-marie-tooth disease, axonal, type 2iiEnrichmentSLC12A62.81
141Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM12.72
142Albinism, oculocutaneous, type viEnrichmentSLC24A52.72
143Long qt syndrome 14EnrichmentCALM12.72
144Renal glucosuriaEnrichmentSLC5A1, SLC5A22.72
145Hurler syndromeEnrichmentSLC26A12.70
146Mucopolysaccharidosis-plus syndromeEnrichmentSLC26A12.70
147Diarrhea 3, secretory sodium, congenital, with or without other congenital anomaliesEnrichmentSLC9A32.70
148Platelet disorder, familial, with associated myeloid malignancyEnrichmentRUNX12.66
149Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with runx1EnrichmentRUNX12.66
150Developmental and epileptic encephalopathy 14EnrichmentSLC12A5, SLC25A222.65
151Developmental and epileptic encephalopathy 102EnrichmentSLC38A32.61
152Cholestasis, progressive familial intrahepatic, 1EnrichmentABCB4, ATP8B1, MYO5B2.58
153Methemoglobinemia, beta typeEnrichmentHBA1, HBA2, HBB2.58
154Autosomal recessive distal renal tubular acidosisEnrichmentATP6V0A4, ATP6V1B1, SLC4A12.58
155Autosomal dominant secondary polycythemiaEnrichmentHBA1, HBA2, HBB2.58
156Hyperlipoproteinemia, type iEnrichmentGPIHBP1, LPL2.55
157VitreoretinochoroidopathyEnrichmentBEST1, FTH12.55
158Niemann-pick disease, type c2EnrichmentNPC1, NPC22.55
159Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS, PRKAR1A2.55
160Gallbladder disease 4EnrichmentABCG5, ABCG82.55
161Retinitis pigmentosa 50EnrichmentBEST1, FTH12.55
162Lipase deficiency, combinedEnrichmentLMF1, LPL2.55
163Developmental and epileptic encephalopathy 93EnrichmentATP6V1A, ATP7B2.55
164Hyperlipoproteinemia, type iiiEnrichmentAPOE, LDLR2.55
165Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndromeEnrichmentATP8A2, VLDLR2.55
166Hypotonia, infantile, with psychomotor retardation and characteristic facies 1EnrichmentNALCN, UNC802.55
167Ventricular tachycardia, catecholaminergic polymorphic, 2EnrichmentCASQ2, RYR22.55
168Familial lipoprotein lipase deficiencyEnrichmentGPIHBP1, LPL2.55
169Exercise-induced malignant hyperthermiaEnrichmentASPH, RYR12.55
170Neurodegeneration with brain iron accumulation 9EnrichmentBEST1, FTH12.55
171Niemann-pick disease type c, severe perinatal formEnrichmentNPC1, NPC22.55
172Niemann-pick disease type c, severe early infantile neurologic onsetEnrichmentNPC1, NPC22.55
173Niemann-pick disease type c, juvenile neurologic onsetEnrichmentNPC1, NPC22.55
174Niemann-pick disease type c, adult neurologic onsetEnrichmentNPC1, NPC22.55
175Niemann-pick disease type c, late infantile neurologic onsetEnrichmentNPC1, NPC22.55
176Hartnup disorderEnrichmentSLC6A192.55
177Parkinsonism-dystonia 2, infantile-onsetEnrichmentSLC18A22.55
178Slc6a1-related neurodevelopmental disorderEnrichmentSLC6A12.55
179Night blindness, congenital stationary, autosomal dominant 2EnrichmentSLC24A12.54
180Basal ganglia calcification, idiopathic, 1EnrichmentSLC20A22.53
181Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edemaEnrichmentSLC4A12.53
182Embryonal rhabdomyosarcomaEnrichmentSLC67A12.53
183Blood platelet diseaseEnrichmentRUNX12.53
184Deafness, autosomal recessive 4, with enlarged vestibular aqueductEnrichmentSLC26A42.48
185PolyhydramniosEnrichmentSLC26A32.48
186Sleep disorderEnrichmentSLC9A62.48
187Osteogenesis imperfecta, type iiiEnrichmentSLC34A12.48
188Infantile sialic acid storage diseaseEnrichmentSLC17A52.45
189Salla diseaseEnrichmentSLC17A52.45
190Congenital short qt syndromeEnrichmentSLC4A32.43
191Aggressive systemic mastocytosisEnrichmentRUNX12.43
192Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentRUNX12.43
193Hypercholesterolemia, familial, 1EnrichmentAPOA2, APOB, LDLR, PCSK92.42
194Amelogenesis imperfecta, type iiiaEnrichmentSLC24A42.42
195Mucopolysaccharidosis, type iiiaEnrichmentSLC26A112.40
196Pendred syndromeEnrichmentSLC26A42.40
197Mucopolysaccharidosis iiiEnrichmentSLC26A112.40
198Congenital hypothyroidismEnrichmentSLC26A7, SLC5A52.40
199Developmental and epileptic encephalopathy 94EnrichmentSLC6A12.38
200Hereditary spherocytosisEnrichmentSLC4A12.35
201PancytopeniaEnrichmentRUNX12.35
202Breast adenocarcinomaEnrichmentSLC67A12.35
203Free sialic acid storage disorderEnrichmentSLC17A52.35
204Hypothyroidism, congenital, nongoitrous, 2EnrichmentSLC26A42.33
205Chronic kidney diseaseEnrichmentSLC13A52.32
206Myasthenic syndrome, congenital, 22EnrichmentSLC3A12.31
207Spastic tetraplegia, thin corpus callosum, and progressive microcephalyEnrichmentSLC1A42.31
208Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeEnrichmentSLC1A42.31
209Leukemia, chronic myeloidEnrichmentRUNX12.29
210Familial thyroid dyshormonogenesisEnrichmentSLC5A52.28
211Early myoclonic encephalopathyEnrichmentSLC25A222.28
212Tobacco addictionEnrichmentSLC6A32.25
213Atypical glycine encephalopathyEnrichmentSLC6A92.25
214Neuronopathy, distal hereditary motor, autosomal dominant 7EnrichmentSLC5A72.21
215Hyperostosis cranialis internaEnrichmentSLC39A142.21
216Acrodermatitis enteropathica, zinc-deficiency typeEnrichmentSLC39A42.21
217Buruli ulcerEnrichmentSLC11A12.21
218AceruloplasminemiaEnrichmentCP2.21
219Blood group, kidd systemEnrichmentSLC14A12.21
220Anemia, hypochromic microcytic, with iron overload 1EnrichmentSLC11A22.21
221Agammaglobulinemia 9, autosomal recessiveEnrichmentSLC39A72.21
222Neurodegeneration and seizures due to copper transport defectEnrichmentSLC31A12.21
223Acrodermatitis enteropathicaEnrichmentSLC39A42.21
224Nephronophthisis-like nephropathy 2EnrichmentSLC41A12.21
225Hemochromatosis, type 4EnrichmentSLC40A12.21
226Zinc deficiency, transient neonatalEnrichmentSLC30A22.21
227Myopia 24, autosomal dominantEnrichmentSLC39A52.21
228Hypermanganesemia with dystonia 1EnrichmentSLC30A102.21
229Hypermanganesemia with dystonia 2EnrichmentSLC39A142.21
230Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive declineEnrichmentSLC44A12.21
231Deafness, autosomal dominant 72EnrichmentSLC44A42.21
232Rheumatoid arthritisEnrichmentSLC22A42.18
233Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentRUNX12.18
234Amelogenesis imperfecta type 2EnrichmentSLC24A42.17
235Heinz body anemiasEnrichmentHBA1, HBA2, HBB2.17
236Heinz body anemiaEnrichmentHBA1, HBA2, HBB2.17
237HyperekplexiaEnrichmentSLC6A52.16
238OsteochondrodysplasiaEnrichmentSLC26A22.14
239Lysinuric protein intoleranceEnrichmentSLC7A72.14
240Hypotonia-cystinuria syndromeEnrichmentSLC3A12.14
241Atypical hypotonia-cystinuria syndromeEnrichmentSLC3A12.14
242Dicarboxylic aminoaciduriaEnrichmentSLC1A12.09
243Episodic ataxia, type 6EnrichmentSLC1A32.09
244Combined oxidative phosphorylation deficiency 28EnrichmentSLC25A262.09
245Developmental and epileptic encephalopathy 41EnrichmentSLC1A22.09
246Schizophrenia 18EnrichmentSLC1A12.09
247Generalized epilepsy with febrile seizures plus, type 12EnrichmentSLC32A12.09
248Hot water epilepsyEnrichmentSLC1A12.09
249Developmental and epileptic encephalopathy 114EnrichmentSLC32A12.09
250Hypercholesterolemia, familial, 2EnrichmentAPOB, LDLR2.09
251DysosteosclerosisEnrichmentSLC29A3, TCIRG12.09
252Hypomagnesemia 1, intestinalEnrichmentTRPM6, TRPM72.09
253Renal tubular acidosis, distal, 3, with or without sensorineural hearing lossEnrichmentATP6V0A4, ATP6V1B12.09
254Hypercholesterolemia, familial, 4EnrichmentLDLR, LDLRAP12.09
255Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndromeEnrichmentATP6V1B2, ATP6V1C12.09
256Sitosterolemia 1EnrichmentABCG5, ABCG82.09
257Hypoalphalipoproteinemia, primary, 2EnrichmentABCA1, APOA12.09
258Osteopetrosis, autosomal recessive 6EnrichmentCLCN7, TCIRG12.09
259SitosterolemiaEnrichmentABCG5, ABCG82.09
260Alpha thalassemia-intellectual disability syndrome type 1EnrichmentHBA1, HBA22.09
261Mutilating palmoplantar keratoderma with periorificial keratotic plaquesEnrichmentMBTPS2, TRPV32.09
262Nephrogenic diabetes insipidusEnrichmentAQP2, AVPR22.09
263Early infantile developmental and epileptic encephalopathyEnrichmentSLC25A22, SLC32A12.05
264DystoniaEnrichmentAFG3L2, ANO3, ATP1A3, CAMK2B, GNB1, NPC12.03
265Presynaptic congenital myasthenic syndromesEnrichmentSLC25A12.01
2662p21 microdeletion syndromeEnrichmentSLC3A12.01
267Alpha-thalassemiaEnrichmentHBA1, HBA2, HBB2.01
268Myoclonic-atonic epilepsyEnrichmentAP2M1, SLC2A1, SLC6A12.01
269Retinal degenerationEnrichmentSLC6A62.01
270Wolff-parkinson-white syndromeEnrichmentSLC26A41.98
271Orthostatic intoleranceEnrichmentSLC6A21.95
272Glycine encephalopathy 1EnrichmentSLC6A91.95
273Hereditary breast ovarian cancer syndromeEnrichmentSLC34A21.92
274Hermansky-pudlak syndrome 3EnrichmentCP1.91
275Distal hereditary motor neuropathy type 7EnrichmentSLC5A71.91
276Cardiomyopathy, dilated, 1aEnrichmentSLC22A51.81
277Autosomal dominant non-syndromic intellectual disabilityEnrichmentCAMK2A, CAMK2B, CLTC, GNB1, RAB11A, SLC6A1, TRPM31.81
278Hypertriglyceridemia 1EnrichmentAPOA5, CREB3L31.81
279Hypoalphalipoproteinemia, primary, 1EnrichmentABCA1, APOA11.81
280Bestrophinopathy, autosomal recessiveEnrichmentBEST1, FTH11.81
281Erythrocytosis, familial, 7EnrichmentHBA1, HBA21.81
282Hemoglobin h diseaseEnrichmentHBA1, HBA21.81
283Intrahepatic cholestasis of pregnancyEnrichmentABCB4, ATP8B11.81
284Bartter syndrome, type 4b, neonatal, with sensorineural deafnessEnrichmentCLCNKA, CLCNKB1.81
285Malignant hyperthermiaEnrichmentASPH, RYR11.81
286Diabetes insipidusEnrichmentAQP2, AVP1.81
287Autosomal recessive osteopetrosisEnrichmentCLCN7, TCIRG11.81
288Coronary artery anomalyEnrichmentAPOC3, LPL1.81
289Digenic hemochromatosisEnrichmentHFE, TFR21.81
290Ear malformationEnrichmentSLC26A41.80
291ScoliosisEnrichmentSLC9A61.80
292Cystinosis, adult nonnephropathicEnrichmentCTNS1.80
293Cystinosis, late-onset juvenile or adolescent nephropathic typeEnrichmentCTNS1.80
294Cystinosis, nephropathicEnrichmentCTNS1.80
295CystinosisEnrichmentCTNS1.80
296Sudden infant death syndromeEnrichmentCALM21.79
297Peripheral nervous system diseaseEnrichmentSLC12A61.79
298MalariaEnrichmentSLC4A11.77
299RasopathyEnrichmentSLC26A41.77
300Diabetes insipidus, neurohypophysealEnrichmentAVP1.74
301Congenital disorder of glycosylation, type iimEnrichmentSLC35A21.74
302Congenital disorder of glycosylation, type iicEnrichmentSLC35C11.74
303Stomatin-deficient cryohydrocytosis with neurologic defectsEnrichmentSLC2A11.74
304Spastic paraplegia 42, autosomal dominantEnrichmentSLC33A11.74
305Hypertrophic osteoarthropathy, primary, autosomal dominantEnrichmentSLCO2A11.74
306Retinitis pigmentosa 82 with or without situs inversusEnrichmentARL2BP1.74
307Leukodystrophy, hypomyelinating, 26, with chondrodysplasiaEnrichmentSLC35B21.74
308Allan-herndon-dudley syndromeEnrichmentSLC16A21.74
309Hemolytic disease of the fetusEnrichmentSLC29A11.74
310Glucose/galactose malabsorptionEnrichmentSLC5A11.74
311Central diabetes insipidusEnrichmentAVP1.74
312Peripheral motor neuropathy, childhood-onset, biotin-responsiveEnrichmentSLC5A61.74
313Congenital disorder of glycosylation, type iifEnrichmentSLC35A11.74
314Ichthyosis prematurity syndromeEnrichmentSLC27A41.74
315Huppke-brendel syndromeEnrichmentSLC33A11.74
316Epilepsy, idiopathic generalized 12EnrichmentSLC2A11.74
317Arthrogryposis, impaired intellectual development, and seizuresEnrichmentSLC35A31.74
318Sodium-dependent multivitamin transporter deficiencyEnrichmentSLC5A61.74
319Chronic enteropathy associated with slco2a1 geneEnrichmentSLCO2A11.74
320Uridine-cytidineuriaEnrichmentSLC28A11.74
321Retinitis pigmentosa with or without situs inversusEnrichmentARL2BP1.74
322Epilepsy with myoclonic absencesEnrichmentSLC2A11.74
323Isolated focal cortical dysplasia type iaEnrichmentSLC35A21.74
324Hereditary cryohydrocytosis with reduced stomatinEnrichmentSLC2A11.74
325Hereditary arginine vasopressin deficiencyEnrichmentAVP1.74
326Primary bone dysplasia with multiple joint dislocationsEnrichmentSLC35B21.74
327Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentSLC25A111.73
328Congenital disorder of glycosylation, type iinEnrichmentSLC39A81.73
329Undetermined early-onset epileptic encephalopathyEnrichmentSLC13A51.69
330Connective tissue diseaseEnrichmentSLC26A21.68
331Congenital stationary night blindnessEnrichmentSLC24A11.66
332Cutis laxaEnrichmentABCC6, ATP6V0A2, ATP6V1E11.64
333Auditory neuropathyEnrichmentSLC17A81.64
334Non-syndromic x-linked intellectual disabilityEnrichmentSLC9A71.63
335Fanconi syndromeEnrichmentCTNS1.62
336Congenital nervous system abnormalityEnrichmentABCD1, CAMK2B, ERLIN2, GNB5, HFE, MCOLN1, MICU1, NALCN, SLC22A5, TUSC3, VLDLR1.61
337Nervous system diseaseEnrichmentABCD1, CAMK2B, ERLIN2, GNB5, HFE, MCOLN1, MICU1, NALCN, SLC22A5, TUSC3, VLDLR1.61
338TuberculosisEnrichmentSLC11A11.61
339Macular dystrophy, vitelliform, 2EnrichmentBEST1, FTH11.60
340Niemann-pick disease, type c1EnrichmentNPC1, NPC21.60
341Chromosome 15q11.2 deletion syndromeEnrichmentNIPA1, NIPA21.60
342ThalassemiaEnrichmentHBA2, HBB1.60
343Niemann-pick diseaseEnrichmentNPC1, NPC21.60
344HypertelorismEnrichmentSLC12A61.58
345Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactylyEnrichmentATP2B1, RYR1, TRPV41.55
346Alzheimer's diseaseEnrichmentAPOE, HFE, VCP1.55
347ClubfootEnrichmentATP2B1, RYR1, TRPV41.55
348Protein-deficiency anemiaEnrichmentHBA1, HBA2, HBB1.55
349Leukemia, acute myeloidEnrichmentRUNX11.54
350Rare isolated myopiaEnrichmentSLC39A51.51
351Developmental and epileptic encephalopathyEnrichmentSLC25A221.50
352Hereditary breast carcinomaEnrichmentSLC67A11.50
353Mitochondrial complex i deficiency, nuclear type 1EnrichmentSLC25A101.48
354CataractEnrichmentSLC7A81.47
355Periventricular nodular heterotopiaEnrichmentARF1, ATP2B1, NEDD4L1.46
356ThrombocytopeniaEnrichmentRUNX11.46
357Fanconi-bickel syndromeEnrichmentSLC2A21.44
358Dystonia 9EnrichmentSLC2A11.44
359Schneckenbecken dysplasiaEnrichmentSLC35D11.44
360Histiocytosis-lymphadenopathy plus syndromeEnrichmentSLC29A31.44
361Glut1 deficiency syndrome 1EnrichmentSLC2A11.44
362Hypouricemia, renal, 2EnrichmentSLC2A91.44
363Phoar2-enteropathy syndromeEnrichmentSLCO2A11.44
364Glucose transporter type 1 deficiency syndromeEnrichmentSLC2A11.44
365Primary hypertrophic osteoarthropathyEnrichmentSLCO2A11.44
366Osteogenesis imperfecta, type iEnrichmentMBTPS2, P4HB1.44
367Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1EnrichmentATP8A2, VLDLR1.44
368Pseudoxanthoma elasticumEnrichmentABCC2, ABCC61.44
369Megaloblastic anemiaEnrichmentAMN, CUBN1.44
370Patent ductus arteriosusEnrichmentABCC9, PSMC31.44
371Type 2 diabetes mellitusEnrichmentSLC2A2, SLC2A4, SLC30A81.39
372Deafness, autosomal recessiveEnrichmentSLC26A41.39
373Autosomal recessive nonsyndromic deafnessEnrichmentSLC26A41.38
374Autosomal recessive congenital ichthyosisEnrichmentABCA12, NIPAL4, SLC27A41.38
375Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentSLC17A81.35
376Imerslund-grasbeck syndrome 1EnrichmentAMN, CUBN1.31
377Noonan syndrome 3EnrichmentCLTC, RAF11.31
378Beta-thalassemiaEnrichmentHBA2, HBB1.31
379Progressive familial intrahepatic cholestasisEnrichmentABCB4, ATP8B11.31
380Beta-thalassemia majorEnrichmentHBA2, HBB1.31
381Rare genetic deafnessEnrichmentSLC26A41.29
382Cole-carpenter syndrome 1EnrichmentP4HB1.28
383Apocrine gland secretion, variation inEnrichmentABCC111.28
384Macular dystrophy, vitelliform, 1EnrichmentBEST11.28
385Metatropic dysplasiaEnrichmentTRPV41.28
386Osteopetrosis, autosomal dominant 2EnrichmentCLCN71.28
387Gnathodiaphyseal dysplasiaEnrichmentANO51.28
388Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A1.28
389Deafness, congenital, with onychodystrophy, autosomal dominantEnrichmentATP6V1B21.28
390Parastremmatic dwarfismEnrichmentTRPV41.28
391Hypertrichosis, congenital generalized, 3, with or without gingival hyperplasiaEnrichmentABCA51.28
392AbetalipoproteinemiaEnrichmentMTTP1.28
393Olmsted syndrome, x-linkedEnrichmentMBTPS21.28
394Sea-blue histiocyte diseaseEnrichmentAPOE1.28
395Spondylometaphyseal dysplasia, kozlowski typeEnrichmentTRPV41.28
396Traboulsi syndromeEnrichmentASPH1.28
397Wolff syndromeEnrichmentATP7B1.28
398Osteogenesis imperfecta, type xixEnrichmentMBTPS21.28
399Hyperinsulinemic hypoglycemia, familial, 2EnrichmentKCNJ111.28
400Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing lossEnrichmentATP1A31.28
401Keratosis follicularis spinulosa decalvans, x-linkedEnrichmentMBTPS21.28
402Hypocalciuric hypercalcemia, familial, type iiiEnrichmentAP2S11.28
403Retinitis pigmentosa 17EnrichmentCA41.28
404Neuronopathy, distal hereditary motor, x-linkedEnrichmentATP7A1.28
405Nephrogenic syndrome of inappropriate antidiuresisEnrichmentAVPR21.28
406Diabetes insipidus, nephrogenic, 1, x-linkedEnrichmentAVPR21.28
407Spinocerebellar ataxia, x-linked 6, with or without sideroblastic anemiaEnrichmentABCB71.28
408Bartter syndrome, type 4a, neonatal, with sensorineural deafnessEnrichmentBSND1.28
409Noonan syndrome 5EnrichmentRAF11.28
410Neuronopathy, distal hereditary motor, autosomal dominant 8EnrichmentTRPV41.28
411Scott syndromeEnrichmentANO61.28
412Pseudohypoparathyroidism, type icEnrichmentGNAS1.28
413Spastic paraplegia 18b, autosomal recessiveEnrichmentERLIN21.28
414Retinopathy-sensory neuropathy syndromeEnrichmentFLVCR11.28
415Carney complex, type 1EnrichmentPRKAR1A1.28
416Neurodegeneration with brain iron accumulation 3EnrichmentFTL1.28
417Intellectual developmental disorder, autosomal recessive 7EnrichmentTUSC31.28
418Uric acid concentration, serum, quantitative trait locus 4EnrichmentSLC17A31.28
419Peroxisome biogenesis disorder 10aEnrichmentPEX31.28
420Osseous heteroplasia, progressiveEnrichmentGNAS1.28
421Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1EnrichmentVCP1.28
422Dyschromatosis universalis hereditaria 3EnrichmentABCB61.28
423Colchicine resistanceEnrichmentABCB11.28
424High density lipoprotein cholesterol level quantitative trait locus 6EnrichmentSCARB11.28
425Bronchiectasis with or without elevated sweat chloride 2EnrichmentSCNN1A1.28
426Bronchiectasis with or without elevated sweat chloride 3EnrichmentSCNN1G1.28
427Myopathy with extrapyramidal signsEnrichmentMICU11.28
428Hailey-hailey diseaseEnrichmentATP2C11.28
429Lipoprotein glomerulopathyEnrichmentAPOE1.28
430Spastic ataxia 5, autosomal recessiveEnrichmentAFG3L21.28
431Cardiomyopathy, dilated, 1nnEnrichmentRAF11.28
432Hyperlipoproteinemia, type idEnrichmentGPIHBP11.28
433Blood group, colton systemEnrichmentAQP11.28
434Blood group, langereis systemEnrichmentABCB61.28
435Brachyolmia type 3EnrichmentTRPV41.28
436Uric acid concentration, serum, quantitative trait locus 1EnrichmentABCG21.28
437Sodium serum level quantitative trait locus 1EnrichmentTRPV41.28
438Focal segmental glomerulosclerosis 2EnrichmentTRPC61.28
439Arterial calcification, generalized, of infancy, 2EnrichmentABCC61.28
440Spondyloepiphyseal dysplasia, maroteaux typeEnrichmentTRPV41.28
441Hypoadrenocorticism, familialEnrichmentABCD11.28
442Mandibulofacial dysostosis with impaired intellectual developmentEnrichmentABCA41.28
443Dyskinesia with orofacial involvement, autosomal dominantEnrichmentADCY51.28
444Peroxisome biogenesis disorder 12aEnrichmentPEX191.28
445Scapuloperoneal spinal muscular atrophyEnrichmentTRPV41.28
446Hepatic lipase deficiencyEnrichmentLIPC1.28
447Lipodystrophy, familial partial, type 5EnrichmentCIDEC1.28
448Congenital contractures of the limbs and face, hypotonia, and developmental delayEnrichmentNALCN1.28
449Cutis laxa, autosomal recessive, type iidEnrichmentATP6V1A1.28
450Microphthalmia/coloboma 7EnrichmentABCB61.28
451Deafness, autosomal recessive 44EnrichmentADCY11.28
452High density lipoprotein cholesterol level quantitative trait locus 12EnrichmentLIPC1.28
453Hyperthyroxinemia, familial dysalbuminemicEnrichmentALB1.28
454Cataract 15, multiple typesEnrichmentMIP1.28
455Miyoshi muscular dystrophy 3EnrichmentANO51.28
456Avascular necrosis of femoral head, primary, 2EnrichmentTRPV41.28
457Spinocerebellar ataxia 41EnrichmentTRPC31.28
458Cardiac arrhythmia syndrome, with or without skeletal muscle weaknessEnrichmentTRDN1.28
459Pseudoxanthoma elasticum, forme frusteEnrichmentABCC61.28
460Pseudohypoaldosteronism, type iibEnrichmentWNK41.28
461Alternating hemiplegia of childhood 2EnrichmentATP1A31.28
462AtransferrinemiaEnrichmentTF1.28
463Dystonia 24EnrichmentANO31.28
464Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS1.28
465Gallbladder disease 1EnrichmentABCB41.28
466Hypertriglyceridemia 2EnrichmentCREB3L31.28
467Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic faciesEnrichmentATP1A21.28
468Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB21.28
469Neurodevelopmental disorder with seizures and brain abnormalitiesEnrichmentCLCN31.28
470Intellectual disability and myopathy syndromeEnrichmentABCC91.28
471Peroxisome biogenesis disorder 10bEnrichmentPEX31.28
472Spastic paraplegia 78, autosomal recessiveEnrichmentATP13A21.28
473Intellectual developmental disorder, autosomal dominant 66EnrichmentATP2B11.28
474Mehmo syndromeEnrichmentEIF2S31.28
475Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB11.28
476Pseudohypoaldosteronism, type ib2, autosomal recessiveEnrichmentSCNN1B1.28
477Neurodevelopmental disorder with poor growth and behavioral abnormalitiesEnrichmentATP9A1.28
478Congenital myopathy 20EnrichmentRYR31.28
479Developmental and epileptic encephalopathy 99EnrichmentATP1A31.28
480Neurodevelopmental disorder with hyperkinetic movements and dyskinesiaEnrichmentADCY51.28
481Hemolytic anemia, congenital, x-linkedEnrichmentATP11C1.28
482Pituitary adenoma 3, multiple typesEnrichmentGNAS1.28
483Deafness, autosomal dominant 82EnrichmentATP2B21.28
484Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunctionEnrichmentLETM11.28
485Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizuresEnrichmentTRPM31.28
486Intellectual developmental disorder, autosomal recessive 63EnrichmentCAMK2A1.28
487Liddle syndrome 2EnrichmentSCNN1G1.28
488Hypopigmentation, organomegaly, and delayed myelination and developmentEnrichmentCLCN71.28
489Intellectual developmental disorder, autosomal dominant 54EnrichmentCAMK2B1.28
490Encephalopathy, acute transientEnrichmentABCB11.28
491Moyamoya disease 7EnrichmentANO11.28
492Deafness, autosomal dominant 77EnrichmentABCC11.28
493Tubulointerstitial kidney disease, autosomal dominant 6EnrichmentAPOA41.28
494Prieto syndromeEnrichmentWNK31.28
495Spinocerebellar ataxia, autosomal recessive 10EnrichmentANO101.28
496Myopathy, sarcoplasmic bodyEnrichmentMB1.28
497Stankiewicz-isidor syndromeEnrichmentPSMD121.28
498Raynaud-claes syndromeEnrichmentCLCN41.28
499Progressive familial heart block, type ibEnrichmentTRPM41.28
500Vitamin b12 deficiencyEnrichmentAMN1.28
501Deafness, autosomal dominant 33EnrichmentATP11A1.28
502Autosomal recessive limb-girdle muscular dystrophy type 2lEnrichmentANO51.28
503Liddle syndrome 3EnrichmentSCNN1A1.28
504Congenital disorder of glycosylation, type iccEnrichmentMAGT11.28
505Pseudohypoaldosteronism, type iicEnrichmentWNK11.28
506Erythrokeratodermia variabilis et progressiva 6EnrichmentTRPM41.28
507Cholesteryl ester storage diseaseEnrichmentLIPA1.28
508Cardioacrofacial dysplasia 2EnrichmentPRKACB1.28
509Occipital horn syndromeEnrichmentATP7A1.28
510Hereditary sensory neuropathyEnrichmentFLVCR11.28
511Bartter disease type 4aEnrichmentBSND1.28
512Dyschromatosis universalis hereditariaEnrichmentABCB61.28
513Cerebral palsy, spastic quadriplegic, 3EnrichmentADD31.28
514Myxoma, intracardiacEnrichmentPRKAR1A1.28
515X-linked nephrogenic diabetes insipidusEnrichmentAVPR21.28
516Familial apolipoprotein a5 deficiencyEnrichmentAPOA51.28
517Diabetes mellitus, transient neonatal, 3EnrichmentKCNJ111.28
518Pseudohyperkalemia, familial, 2, due to red cell leakEnrichmentABCB61.28
519Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC31.28
520Spinocerebellar ataxia 28EnrichmentAFG3L21.28
521Dyskinesia with orofacial involvement, autosomal recessiveEnrichmentADCY51.28
522Temporal lobe epilepsyEnrichmentANO41.28
523Muscular dystrophy, limb-girdle, autosomal recessive 12EnrichmentANO51.28
524Leukodystrophy, hypomyelinating, 24EnrichmentATP11A1.28
525Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB51.28
526Intestinal dysmotility syndromeEnrichmentANO11.28
527Skin/hair/eye pigmentation, variation in, 10EnrichmentTPCN21.28
528Inflammatory bowel disease 13EnrichmentABCB11.28
529Skeletal dysplasia and progressive central nervous system degeneration, lethalEnrichmentTRPV41.28
530Hypercholesterolemia, familial, 3EnrichmentPCSK91.28
531Hereditary spastic paraplegia 18EnrichmentERLIN21.28
532Kufor-rakeb syndromeEnrichmentATP13A21.28
533Digital arthropathy-brachydactyly, familialEnrichmentTRPV41.28
534Epilepsy, idiopathic generalized 11EnrichmentCLCN21.28
535Agammaglobulinemia 5, autosomal dominantEnrichmentLRRC8A1.28
536Leopard syndrome 2EnrichmentRAF11.28
537Glycerol quantitative trait locusEnrichmentAQP71.28
538Apolipoprotein c-iii deficiencyEnrichmentAPOC31.28
539Olmsted syndrome 1EnrichmentTRPV31.28
540Wolman diseaseEnrichmentLIPA1.28
541Plasma triglyceride level quantitative trait locusEnrichmentANGPTL41.28
542Myopathy, vacuolar, with casq1 aggregatesEnrichmentCASQ11.28
543Zimmermann-laband syndrome 2EnrichmentATP6V1B21.28
544Lipoprotein quantitative trait locusEnrichmentLPA1.28
545Immunodeficiency 46EnrichmentTFRC1.28
546Diabetes mellitus, permanent neonatal, 2EnrichmentKCNJ111.28
547L-ferritin deficiencyEnrichmentFTL1.28
548Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4EnrichmentATP8A21.28
549Cataract, alopecia, oral mucosal disorder, and psoriasis-like syndromeEnrichmentMBTPS11.28
550HyperparathyroidismEnrichmentTRPV61.28
551Spastic ataxia 5EnrichmentAFG3L21.28
552Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA1.28
553Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB41.28
554Maturity-onset diabetes of the young, type 13EnrichmentKCNJ111.28
555EncephalitisEnrichmentABCD11.28
556Neurodevelopmental disorder with microcephaly, absent speech, and hypotoniaEnrichmentFLVCR11.28
557Disorders of gnas inactivationEnrichmentGNAS1.28
558Blood group, junior systemEnrichmentABCG21.28
559Frontotemporal dementia and/or amyotrophic lateral sclerosis 6EnrichmentVCP1.28
560Heme oxygenase 1 deficiencyEnrichmentHMOX11.28
561Optic atrophy 11EnrichmentYME1L11.28
562Cardioacrofacial dysplasia 1EnrichmentPRKACA1.28
563Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemiaEnrichmentIREB21.28
564Bile acid synthesis defect, congenital, 5EnrichmentABCD31.28
565Palmoplantar keratoderma, nonepidermolytic, focal 2EnrichmentTRPV31.28
566Developmental and epileptic encephalopathy 98EnrichmentATP1A21.28
567Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB11.28
568Congenital analbuminemiaEnrichmentALB1.28
569Cutis laxa, autosomal recessive, type iicEnrichmentATP6V1E11.28
570Sick sinus syndrome 4EnrichmentGNB21.28
571Ifap syndromeEnrichmentMBTPS21.28
572Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic faciesEnrichmentSEL1L1.28
573Periventricular nodular heterotopia 7EnrichmentNEDD4L1.28
574Autoinflammation with episodic fever and lymphadenopathyEnrichmentRIPK11.28
575Intellectual developmental disorder, autosomal dominant 53EnrichmentCAMK2A1.28
576Ceroid lipofuscinosis, neuronal, 15EnrichmentCLCN61.28
577Multisystem proteinopathyEnrichmentVCP1.28
578TrigonitisEnrichmentRAF11.28
579Neurodevelopmental disorder with hypotonia and brain abnormalitiesEnrichmentCLCN31.28
580Hyperparathyroidism, transient neonatalEnrichmentTRPV61.28
581Intellectual disability, wolff typeEnrichmentATP7B1.28
582Sickle cell-beta-thalassemia disease syndromeEnrichmentHBB1.28
583Megalencephalic leukoencephalopathy with subcortical cysts 4, remittingEnrichmentAQP41.28
584Intellectual developmental disorder, autosomal dominant 59EnrichmentCAMK2G1.28
585Congenital myopathy with myasthenic-like onsetEnrichmentRYR11.28
586Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomaliesEnrichmentABCA31.28
587Spastic paraplegia 62, autosomal recessiveEnrichmentERLIN11.28
588AnalbuminemiaEnrichmentALB1.28
589Developmental and epileptic encephalopathy 104EnrichmentATP6V0A11.28
590Neurodevelopmental disorder with epilepsy and brain atrophyEnrichmentATP6V0A11.28
591Pseudohypoaldosteronism, type ib3, autosomal recessiveEnrichmentSCNN1G1.28
592X-linked cerebral adrenoleukodystrophyEnrichmentABCD11.28
593Cerebellar hypoplasiaEnrichmentVLDLR1.28
594Myopathy due to calsequestrin and serca1 protein overloadEnrichmentCASQ11.28
595Telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short statureEnrichmentLRRC8C1.28
596Lysosomal acid lipase deficiencyEnrichmentLIPA1.28
597Auditory neuropathy, autosomal dominant 2EnrichmentATP11A1.28
598Adult-onset distal myopathy due to vcp mutationEnrichmentVCP1.28
599Cataract 50 with or without glaucomaEnrichmentTRPM31.28
600Mrcs syndromeEnrichmentBEST11.28
601Atp1a3-related disorderEnrichmentATP1A31.28
602Epilepsy, early-onset, 3, with or without developmental delayEnrichmentATP6V0C1.28
603Rhabdomyolysis 2EnrichmentATP2A21.28
604Catecholaminergic polymorphic ventricular tachycardia 5EnrichmentTRDN1.28
605Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B1.28
606Spastic paraplegia 18a, autosomal dominantEnrichmentERLIN21.28
607Hemoglobin c-beta-thalassemia syndromeEnrichmentHBB1.28
608Oculogyric crisisEnrichmentATP1A31.28
609Aquagenic palmoplantar keratodermaEnrichmentCFTR1.28
610Genetic hyperferritinemia without iron overloadEnrichmentFTL1.28
611Lateral sclerosisEnrichmentSPG71.28
612HemiplegiaEnrichmentATP1A31.28
613Sickle cell s-o arab diseaseEnrichmentHBB1.28
614X-linked intellectual disability-cardiomegaly-congestive heart failure syndromeEnrichmentCLIC21.28
615Sickle cell-beta zero-thalassemiaEnrichmentHBB1.28
616Motor stereotypiesEnrichmentWNK31.28
617Autosomal dominant deafness - onychodystrophy syndromeEnrichmentATP6V1B21.28
618Familial gastric type 1 neuroendocrine tumorEnrichmentATP4A1.28
619X-linked sideroblastic anemia with ataxiaEnrichmentABCB71.28
620Bresek syndromeEnrichmentMBTPS21.28
621Hyperlipidemia due to hepatic triglyceride lipase deficiencyEnrichmentLIPC1.28
622Intermediate dend syndromeEnrichmentKCNJ111.28
623Monostotic fibrous dysplasiaEnrichmentGNAS1.28
624Retinal diseaseEnrichmentABCA41.28
625Recessive intellectual disability-motor dysfunction-multiple joint contractures syndromeEnrichmentERLIN21.28
626Sickle cell s-d punjab diseaseEnrichmentHBB1.28
627AdrenomyeloneuropathyEnrichmentABCD11.28
628Sickle cell s-c diseaseEnrichmentHBB1.28
629Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiencyEnrichmentKCNJ111.28
630Asymptomatic hyperckemia-myalgia-rhabdomyolysis syndromeEnrichmentANO51.28
631Aapoaii amyloidosisEnrichmentAPOA21.28
632Hypotonia, infantile, with psychomotor retardation and characteristic faciesEnrichmentUNC801.28
633Mazabraud syndromeEnrichmentGNAS1.28
634Chronic primary adrenal insufficiencyEnrichmentABCD11.28
635Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathyEnrichmentRYR11.28
636Cramp-fasciculation syndromeEnrichmentTRPA11.28
637Sickle cell s-e diseaseEnrichmentHBB1.28
638Parkinsonism due to atp13a2 deficiencyEnrichmentATP13A21.28
639HypoalphalipoproteinemiaEnrichmentABCA11.28
640Trpv4-related bone disorderEnrichmentTRPV41.28
641Benign samaritan congenital myopathyEnrichmentRYR11.28
642Homozygous hemoglobin o arab diseaseEnrichmentHBB1.28
643Sickle cell s-other specified hemoglobin variantEnrichmentHBB1.28
644Autosomal dominant hyperinsulinism due to kir6.2 deficiencyEnrichmentKCNJ111.28
645Autosomal recessive hyperinsulinism due to kir6.2 deficiencyEnrichmentKCNJ111.28
646Arterial tortuosity syndromeEnrichmentSLC2A101.27
647Glut1 deficiency syndrome 2EnrichmentSLC2A11.27
648Hypertrophic osteoarthropathy, primary, autosomal recessive, 1EnrichmentSLCO2A11.27
649Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1EnrichmentARL21.27
650Chromosome 17q23.1-q23.2 deletion syndromeEnrichmentSLC2A11.27
651Familial renal glucosuriaEnrichmentSLC5A21.27
652Breast cancerEnrichmentSLC67A11.27
653Benign epilepsy with centrotemporal spikesEnrichmentSLC6A11.25
654Colorectal cancerEnrichmentSLC9A91.25
655Autoinflammatory diseaseEnrichmentSLC7A71.25
656Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentSLC26A41.24
657Alzheimer disease, familial, 1EnrichmentAPOE, HFE, VCP1.24
658Pancreatitis, hereditaryEnrichmentCFTR, SPG7, TRPV61.24
659Centralopathic epilepsyEnrichmentSLC6A11.23
660Neurodegeneration with brain iron accumulationEnrichmentCP1.22
661Erythrokeratodermia variabilis et progressiva 1EnrichmentNIPAL4, TRPM41.20
662Hemochromatosis, type 1EnrichmentHFE, TFR21.20
663HypothyroidismEnrichmentGNB1, SLC33A11.20
664Hereditary spastic paraplegiaEnrichmentERLIN1, ERLIN2, NIPA1, SLC16A2, SPG71.16
665Huntington diseaseEnrichmentSLC2A31.15
666Stargardt disease 1EnrichmentABCA4, BEST1, CLN3, FLVCR11.14
667Bronchiectasis with or without elevated sweat chloride 1EnrichmentCFTR, SCNN1B1.10
668Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB1.10
669Optic atrophy plus syndromeEnrichmentABCA4, ABCC6, AFG3L2, PMPCA, SPG71.09
670Hermansky-pudlak syndromeEnrichmentCP1.05
671Inherited cancer-predisposing syndromeEnrichmentRUNX11.03
672Hermansky-pudlak syndrome 1EnrichmentCP1.02
673PolymicrogyriaEnrichmentATP1A2, PSMC31.02
674Congenital nonbullous ichthyosiform erythrodermaEnrichmentABCA12, NIPAL41.02
675Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1EnrichmentTRPM70.99
676Seizures, benign familial neonatal, 1EnrichmentATP1A30.99
677Hypomagnesemia 2, renalEnrichmentFXYD20.99
678Malignant hyperthermia 1EnrichmentRYR10.99
679Acrokeratosis verruciformisEnrichmentATP2A20.99
680Hyperlipoproteinemia, type vEnrichmentAPOA50.99
681Pseudohypoparathyroidism, type iaEnrichmentGNAS0.99
682Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndromeEnrichmentRYR20.99
683Arthrogryposis, distal, type 2aEnrichmentNALCN0.99
684Apolipoprotein c-ii deficiencyEnrichmentAPOC20.99
685Ichthyosis, congenital, autosomal recessive 4bEnrichmentABCA120.99
686Amelogenesis imperfecta, type igEnrichmentPRKAR1A0.99
687Diarrhea 2, with microvillus atrophy, with or without cholestasisEnrichmentMYO5B0.99
688Batten-turner congenital myopathyEnrichmentCLCN10.99
689Carbamoyl phosphate synthetase i deficiency, hyperammonemia due toEnrichmentABCA30.99
690Tangier diseaseEnrichmentABCA10.99
691Chylomicron retention diseaseEnrichmentSAR1B0.99
692Fructose intolerance, hereditaryEnrichmentANO50.99
693Hydrocephalus, normal-pressure, 1EnrichmentPMPCA0.99
694Hyperparathyroidism, neonatal severeEnrichmentTRPV60.99
695Renal tubular acidosis, distal, 2, with progressive sensorineural hearing lossEnrichmentATP6V1B10.99
696Spondyloepimetaphyseal dysplasia, x-linkedEnrichmentABCD10.99
697Spermatogenic failure, y-linked, 2EnrichmentCFTR0.99
698Chanarin-dorfman syndromeEnrichmentANO100.99
699Spinocerebellar ataxia, x-linked 1EnrichmentATP2B30.99
700Dent disease 1EnrichmentCLCN50.99
701Spastic paraplegia 6, autosomal dominantEnrichmentNIPA10.99
702Surfactant metabolism dysfunction, pulmonary, 1EnrichmentABCA30.99
703Palmoplantar keratoderma, bothnian typeEnrichmentAQP50.99
704Polymyoclonus, infantileEnrichmentSCNN1B0.99
705Brody diseaseEnrichmentATP2A10.99
706Migraine, familial hemiplegic, 2EnrichmentATP1A20.99
707Spinocerebellar ataxia, x-linked 5EnrichmentATP2B30.99
708Bartter syndrome, type 3EnrichmentCLCNKB0.99
709AdrenoleukodystrophyEnrichmentABCD10.99
710Ichthyosis, congenital, autosomal recessive 4aEnrichmentABCA120.99
711Alzheimer disease 3EnrichmentAPOE0.99
712Immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasiaEnrichmentMAGT10.99
713Hyperaldosteronism, familial, type iiEnrichmentCLCN20.99
714Cardiomyopathy, dilated, 1oEnrichmentABCC90.99
715Stargardt disease 3EnrichmentABCA40.99
716Abdominal obesity-metabolic syndrome 1EnrichmentMTTP0.99
717Osteopetrosis, autosomal recessive 4EnrichmentCLCN70.99
718Cholestasis, progressive familial intrahepatic, 3EnrichmentABCB40.99
719Nephrolithiasis, x-linked recessive, with renal failureEnrichmentCLCN50.99
720Alzheimer disease 9EnrichmentABCA70.99
721Amyotrophic lateral sclerosis 6 with or without frontotemporal dementiaEnrichmentVCP0.99
722Alternating hemiplegia of childhood 1EnrichmentATP1A20.99
723PseudopseudohypoparathyroidismEnrichmentGNAS0.99
724Hereditary motor and sensory neuropathy, type iicEnrichmentTRPV40.99
725Porphyria cutanea tarda, type iEnrichmentHFE0.99
726Cardiomyopathy, dilated, 1pEnrichmentPLN0.99
727Diabetes mellitus, permanent neonatal, 1EnrichmentKCNJ110.99
728Primary lateral sclerosis, juvenileEnrichmentERLIN20.99
729Birk-barel syndromeEnrichmentTRPM30.99
730Diabetes insipidus, nephrogenic, 2, autosomalEnrichmentAQP20.99
731Lethal congenital contracture syndrome 8EnrichmentADCY60.99
732Anemia, hypochromic microcytic, with iron overload 2EnrichmentSTEAP30.99
733Bleeding disorder, platelet-type, 19EnrichmentPRKACG0.99
734Retinal dystrophy and iris coloboma with or without cataractEnrichmentTRPM30.99
735Mucolipidosis ivEnrichmentMCOLN10.99
736Osteogenesis imperfecta, type xiiiEnrichmentBMP10.99
737Night blindness, congenital stationary, type 1hEnrichmentGNB30.99
738Osteopetrosis, autosomal recessive 5EnrichmentOSTM10.99
739Atrial fibrillation, familial, 12EnrichmentABCC90.99
740Cardiomyopathy, familial hypertrophic, 18EnrichmentPLN0.99
741Palmoplantar keratoderma, nonepidermolytic, focal 1EnrichmentTRPV30.99
742Glycogen storage disease iiiEnrichmentAFG3L20.99
743Spastic paraplegia 79b, autosomal recessiveEnrichmentSPG70.99
744Leukoencephalopathy with ataxiaEnrichmentCLCN20.99
745Ceroid lipofuscinosis, neuronal, 3EnrichmentCLN30.99
746Cholestasis, intrahepatic, of pregnancy 3EnrichmentABCB40.99
747Hyperferritinemia with or without cataractEnrichmentFTL0.99
748Hypobetalipoproteinemia, familial, 1EnrichmentAPOB0.99
749Optic atrophy 12EnrichmentAFG3L20.99
750Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B0.99
751Frontotemporal dementia and/or amyotrophic lateral sclerosis 2EnrichmentSPG70.99
752Wrinkly skin syndromeEnrichmentATP6V0A20.99
753Methemoglobinemia, alpha typeEnrichmentHBA10.99
754Hypophosphatemic rickets, x-linked recessiveEnrichmentCLCN50.99
755Deafness, autosomal recessive 109EnrichmentATP7B0.99
756Charcot-marie-tooth disease, axonal, type 2ddEnrichmentATP1A10.99
757Periventricular nodular heterotopia 8EnrichmentARF10.99
758Cholestasis, progressive familial intrahepatic, 10EnrichmentMYO5B0.99
759Birk-aharoni syndromeEnrichmentPSMC10.99
760Multiple mitochondrial dysfunctions syndrome 6EnrichmentPMPCB0.99
761Sitosterolemia 2EnrichmentABCG50.99
762Osteopetrosis, autosomal recessive 1EnrichmentTCIRG10.99
763Usher syndrome, type ivEnrichmentPRKAR1A0.99
764Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosisEnrichmentCLCN50.99
765Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB40.99
766Osteopetrosis, autosomal recessive 3EnrichmentCA20.99
767Corneal dystrophy, lisch epithelialEnrichmentMCOLN10.99
768Retinitis pigmentosa 36EnrichmentCYGB0.99
769Craniometaphyseal dysplasiaEnrichmentANKH0.99
770Hemochromatosis, type 5EnrichmentFTH10.99
771Familial hemiplegic migraineEnrichmentATP1A20.99
772Ichthyosis, congenital, autosomal recessive 6EnrichmentNIPAL40.99
773Familial apolipoprotein c-ii deficiencyEnrichmentAPOC20.99
774Surfactant metabolism dysfunction, pulmonary, 3EnrichmentABCA30.99
775King-denborough syndromeEnrichmentRYR10.99
776Cone-rod dystrophy 3EnrichmentABCA40.99
777AcrodysostosisEnrichmentPRKAR1A0.99
778PseudohypoparathyroidismEnrichmentGNAS0.99
779Short-rib thoracic dysplasia 15 with polydactylyEnrichmentABCG50.99
780Body mass index quantitative trait locus 19EnrichmentADCY30.99
781Hypobetalipoproteinemia, familial, 2EnrichmentANGPTL30.99
782Neurogenic bladderEnrichmentCLCN60.99
783Hypomagnesemia, seizures, and impaired intellectual development 2EnrichmentATP1A10.99
784Respiratory system diseaseEnrichmentCLCN60.99
785Fibrolamellar carcinomaEnrichmentPRKACA0.99
786Intellectual developmental disorder with poor growth and with or without seizures or ataxiaEnrichmentABCA20.99
787Intellectual developmental disorder, autosomal recessive 24EnrichmentTUSC30.99
788Intellectual developmental disorder, autosomal dominant 60, with seizuresEnrichmentAP2M10.99
789Familial avascular necrosis of the femoral headEnrichmentTRPV40.99
790Hemoglobin lepore-beta-thalassemia syndromeEnrichmentHBB0.99
791HypobetalipoproteinemiaEnrichmentAPOB0.99
792Developmental and epileptic encephalopathy 23EnrichmentANGPTL30.99
793Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B0.99
794Deafness, autosomal dominant 84EnrichmentATP11A0.99
795Leber congenital amaurosis 14EnrichmentABCA40.99
796Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB50.99
797Immunodeficiency 57 with autoinflammationEnrichmentRIPK10.99
79817q24.2 microdeletion syndromeEnrichmentPSMD120.99
799Hypoalphalipoproteinemia, primary, 2, intermediateEnrichmentAPOA10.99
800Intrahepatic cholestasisEnrichmentABCB40.99
801Dental cariesEnrichmentATP2B30.99
802Spondyloepiphyseal dysplasia, kondo-fu typeEnrichmentMBTPS10.99
803Childhood-onset epilepsy syndromeEnrichmentATP6V0C0.99
804Amyloidosis, hereditary systemic 3EnrichmentAPOA10.99
805Hemochromatosis type 2EnrichmentHFE0.99
806Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A0.99
807Clcn2-related leukoencephalopathyEnrichmentCLCN20.99
808Arterial calcification of infancyEnrichmentABCC60.99
809CaddsEnrichmentABCD10.99
810Transient infantile hypertriglyceridemia and hepatosteatosisEnrichmentCREB3L30.99
811Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS0.99
812Normal pressure hydrocephalusEnrichmentPMPCA0.99
813HyperinsulinismEnrichmentKCNJ110.99
814Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemiaEnrichmentSEL1L0.99
815OsteosclerosisEnrichmentCLCN70.99
816Sickle cell s-lepore diseaseEnrichmentHBB0.99
817PseudohypoaldosteronismEnrichmentSCNN1A0.99
818Mitochondrial dna depletion syndrome 20EnrichmentASIC20.99
819Infantile osteopetrosis with neuroaxonal dysplasiaEnrichmentOSTM10.99
820Sleep apneaEnrichmentWNK30.99
821Cerebral visual impairmentEnrichmentGNB10.99
822Submucosal cleft palateEnrichmentUBB0.99
823Cleft hard palateEnrichmentUBB0.99
824Spastic paraplegia-paget disease of bone syndromeEnrichmentVCP0.99
825Generalized epilepsy with febrile seizures plusEnrichmentSLC32A10.97
826Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentSLC5A70.95
827Paroxysmal dystoniaEnrichmentSLC2A10.92
828Cardiac conduction defectEnrichmentPLN, RYR20.89
829EpicanthusEnrichmentABCC9, ATP1A30.89
830Spastic ataxiaEnrichmentAFG3L2, ATP1A2, ATP2B3, ATP7B, SPG70.83
831Neonatal adrenoleukodystrophyEnrichmentPEX19, PEX30.83
832Cerebral palsyEnrichmentADD3, CLCN1, CLCN2, GNB10.83
833Darier-white diseaseEnrichmentATP2A20.82
834Cholestasis, intrahepatic, of pregnancy, 1EnrichmentATP8B10.82
835Mccune-albright syndromeEnrichmentGNAS0.82
836Macular degeneration, age-related, 2EnrichmentABCA40.82
837LaryngomalaciaEnrichmentWNK30.82
838Dystonia 12EnrichmentATP1A30.82
839Craniometaphyseal dysplasia, autosomal dominantEnrichmentANKH0.82
840Zimmermann-laband syndrome 1EnrichmentATP6V1B20.82
841Prognathism, mandibularEnrichmentERLEC10.82
842Myotonia congenita, autosomal dominantEnrichmentCLCN10.82
843Retinitis pigmentosa 1EnrichmentABCA40.82
844ChoreoacanthocytosisEnrichmentTCIRG10.82
845Cutis laxa, autosomal recessive, type iiaEnrichmentATP6V0A20.82
846Cholestasis, benign recurrent intrahepatic, 1EnrichmentATP8B10.82
847Neutropenia, severe congenital, 1, autosomal dominantEnrichmentTCIRG10.82
848Dubin-johnson syndromeEnrichmentABCC20.82
849Cantu syndromeEnrichmentABCC90.82
850Myotonia congenita, autosomal recessiveEnrichmentCLCN10.82
851Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB40.82
852Bietti crystalline corneoretinal dystrophyEnrichmentABCA40.82
853Spinocerebellar ataxia, autosomal recessive 2EnrichmentPMPCA0.82
854Uvula, bifidEnrichmentUBB0.82
855Wilson diseaseEnrichmentATP7B0.82
856Ifap syndrome 1, with or without bresheck syndromeEnrichmentMBTPS20.82
857Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasiaEnrichmentLDLR0.82
858Menkes diseaseEnrichmentATP7A0.82
859Retinitis pigmentosa 19EnrichmentABCA40.82
860Osteopetrosis, autosomal dominant 1EnrichmentCLCNKB0.82
861Hemochromatosis, type 3EnrichmentTFR20.82
862Nuchal bleb, familialEnrichmentCFTR0.82
863Alzheimer disease 4EnrichmentAPOE0.82
864Spastic paraplegia 7, autosomal recessiveEnrichmentSPG70.82
865Cleft soft palateEnrichmentUBB0.82
866Wolfram syndrome 2EnrichmentSLC9B10.82
867Microvascular complications of diabetes 7EnrichmentHFE0.82
868Nasopharyngeal carcinomaEnrichmentNPC10.82
869Chromosome 5q14.3 deletion syndrome, distalEnrichmentNEDD4L0.82
870Episodic pain syndrome, familial, 1EnrichmentTRPA10.82
871Ehlers-danlos syndrome, kyphoscoliotic type, 1EnrichmentABCD10.82
872Folate malabsorption, hereditaryEnrichmentSLC46A10.82
873Lynch syndrome 5EnrichmentRYR10.82
874Transferrin serum level quantitative trait locus 2EnrichmentHFE0.82
875Intellectual developmental disorder, autosomal dominant 56EnrichmentCLTC0.82
876Breast-ovarian cancer, familial 5EnrichmentATP7B0.82
877Proteinuria, chronic benignEnrichmentCUBN0.82
878Keratosis follicularis spinulosa decalvansEnrichmentMBTPS20.82
879Dent diseaseEnrichmentCLCN50.82
880Bronchopulmonary dysplasiaEnrichmentRYR10.82
881Inclusion body myopathy with paget disease of bone and frontotemporal dementiaEnrichmentVCP0.82
882Microvillus inclusion diseaseEnrichmentMYO5B0.82
883MucolipidosisEnrichmentMCOLN10.82
884Proteosome-associated autoinflammatory syndromeEnrichmentPSMB40.82
885Intrinsic cardiomyopathyEnrichmentPLN0.82
886Syndromic x-linked intellectual disability najm typeEnrichmentLDLR0.82
887Cerebellar diseaseEnrichmentAFG3L20.82
888Hemoglobin e diseaseEnrichmentHBB0.82
889Periventricular leukomalaciaEnrichmentMCOLN10.82
8903-methylglutaconic aciduriaEnrichmentYME1L10.82
891Intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalitiesEnrichmentATP2B10.82
892Muscular atrophyEnrichmentATP2B30.82
893Spastic paraplegia 50, autosomal recessiveEnrichmentAPOA10.82
894Plod1-related kyphoscoliotic ehlers-danlos syndromeEnrichmentABCD10.82
895Familial porphyria cutanea tardaEnrichmentHFE0.82
896Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS0.82
897High bone mass osteogenesis imperfectaEnrichmentBMP10.82
898Cole-carpenter syndromeEnrichmentP4HB0.82
899Sickle cell-hemoglobin c diseaseEnrichmentHBB0.82
900Age related macular degenerationEnrichmentABCA40.82
901Hemoglobin d diseaseEnrichmentHBB0.82
902Pediatric acute respiratory distress syndromeEnrichmentABCA30.82
903Delta beta-thalassemiaEnrichmentHBB0.82
904Thyroid hemiagenesisEnrichmentPSMD30.82
905Hypomyelination neuropathy-arthrogryposis syndromeEnrichmentADCY60.82
906Angelman syndrome due to imprinting defect in 15q11-q13EnrichmentATP10A0.82
907Unstable hemoglobin diseaseEnrichmentHBB0.82
908Atp6v0a2-related cutis laxaEnrichmentATP6V0A20.82
909Dend syndromeEnrichmentKCNJ110.82
910Hemoglobin e/beta thalassemia diseaseEnrichmentHBB0.82
911Brugada syndromeEnrichmentABCC9, SCNN1A, TRPM40.81
912Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentPLN, RYR20.78
913Hereditary chronic pancreatitisEnrichmentCFTR, SPG70.78
914Isolated macular dystrophyEnrichmentABCA4, BEST10.78
915StrabismusEnrichmentGNB1, NALCN, SLC2A10.77
916Gilbert syndromeEnrichmentSLCO1B10.74
917Retinitis pigmentosaEnrichmentSLC24A10.73
918Peroxisome biogenesis disorder 1bEnrichmentPEX19, PEX30.73
919Zellweger syndromeEnrichmentPEX19, PEX30.73
920Retinitis pigmentosa 91EnrichmentABCA40.71
921Porphyria cutanea tardaEnrichmentHFE0.71
922Ehlers-danlos syndrome, arthrochalasia type, 1EnrichmentALB0.71
923Chorea, benign hereditaryEnrichmentADCY50.71
924Congenital myopathy 1a, autosomal dominant, with malignant hyperthermiaEnrichmentRYR10.71
925Mulibrey nanismEnrichmentTRPM30.71
926Neuropathy, hereditary sensory and autonomic, type iiaEnrichmentWNK10.71
927Spastic paraplegia 17, autosomal dominantEnrichmentGNG30.71
928Myopathy, centronuclear, 2EnrichmentRYR10.71
929Sacral defect with anterior meningoceleEnrichmentRYR10.71
930Macular degeneration, age-related, 1EnrichmentAPOE0.71
931Dermatitis, atopicEnrichmentKCNJ110.71
932Pseudohypoparathyroidism, type ibEnrichmentGNAS0.71
933Amyotrophy, monomelicEnrichmentRYR30.71
934Smith-lemli-opitz syndromeEnrichmentCLCN10.71
935Lipodystrophy, congenital generalized, type 2EnrichmentGNG30.71
936Ventricular fibrillation, paroxysmal familial, 1EnrichmentRYR20.71
937Macular dystrophy, vitelliform, 3EnrichmentBEST10.71
938Carney complex variantEnrichmentPRKAR1A0.71
939Sickle cell diseaseEnrichmentHBB0.71
940Beta-thalassemia, dominant inclusion body typeEnrichmentHBB0.71
941Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A0.71
942Hyperkalemic periodic paralysisEnrichmentCLCN10.71
943Chondrocalcinosis 2EnrichmentANKH0.71
944Pregnancy loss, recurrent 3EnrichmentASIC50.71
945Bone mineral density quantitative trait locus 15EnrichmentTRPV60.71
946Hypotonia, infantile, with psychomotor retardation and characteristic facies 2EnrichmentUNC800.71
947Intellectual developmental disorder, autosomal dominant 26EnrichmentRYR10.71
948Imerslund-grasbeck syndrome 2EnrichmentAMN0.71
949Erythrocytosis, familial, 6EnrichmentHBB0.71
950Hereditary sensory and autonomic neuropathy type 2EnrichmentWNK10.71
951Beta-thalassemia intermediaEnrichmentHBB0.71
952Neonatal diabetes mellitusEnrichmentKCNJ110.71
953Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1EnrichmentCLTC0.71
954HemoglobinopathyEnrichmentHBB0.71
955Congenital myopathy 1aEnrichmentRYR10.71
956Noonan syndrome with multiple lentiginesEnrichmentRAF10.71
957Spastic quadriplegic cerebral palsyEnrichmentADD30.71
958Hydrocephalus, congenital, 2, with or without brain or eye anomaliesEnrichmentANO60.71
959Hemoglobin c diseaseEnrichmentHBB0.71
960Congenital blue dot cataractEnrichmentMIP0.71
961Hereditary progressive cardiac conduction defectEnrichmentTRPM40.71
962Eyelid colobomaEnrichmentABCB60.71
963Familial or sporadic hemiplegic migraineEnrichmentATP1A20.71
964Hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeEnrichmentHBB0.71
965VitreoretinopathyEnrichmentABCA40.71
966Methemoglobinemia, beta-globin typeEnrichmentHBB0.71
967Autosomal recessive isolated optic atrophyEnrichmentYME1L10.71
968Lens colobomaEnrichmentABCB60.71
969Paroxysmal familial ventricular fibrillationEnrichmentRYR20.71
970Familial sick sinus syndromeEnrichmentGNB20.71
971Left ventricular noncompactionEnrichmentSLC30A50.71
972Congenital long qt syndromeEnrichmentSLC2A20.70
973Arrhythmogenic right ventricular cardiomyopathyEnrichmentRYR1, RYR20.69
974Hypertension, essentialEnrichmentATP1B1, GNB30.65
975Interstitial lung disease 2EnrichmentABCA3, ATP11A0.65
976Congenital disorder of glycosylation, type inEnrichmentMAGT1, SLC35A20.65
977Autism spectrum disorderEnrichmentSLC3A10.63
978Hypertrophic cardiomyopathyEnrichmentSLC30A50.63
979Alzheimer disease 2EnrichmentAPOE0.62
980Amyloidosis, hereditary systemic 2EnrichmentAPOA10.62
981Dementia, lewy bodyEnrichmentVCP0.62
982Congenital myopathy 1b, autosomal recessiveEnrichmentRYR10.62
983Variegate porphyriaEnrichmentHFE0.62
984Arthrogryposis, distal, type 2b1EnrichmentNALCN0.62
985Night blindness, congenital stationary, type 1cEnrichmentTRPM10.62
986Congenital disorder of glycosylation, type ilEnrichmentATP6V0A20.62
987Charcot-marie-tooth disease, axonal, type 2eEnrichmentVCP0.62
988Autosomal recessive cerebellar ataxiaEnrichmentANO100.62
989Heart conduction diseaseEnrichmentRYR20.62
990Cardiac arrestEnrichmentPLN0.62
991Transient neonatal diabetes mellitusEnrichmentKCNJ110.62
992Night blindnessEnrichmentTRPM10.62
993PolyneuropathyEnrichmentSPG70.62
994Persistent hyperplastic primary vitreousEnrichmentMIP0.62
995Macular degenerationEnrichmentABCA40.62
996HypoglycemiaEnrichmentKCNJ110.62
997Alg9-congenital disorder of glycosylationEnrichmentATP6V0A20.62
998Autosomal dominant severe congenital neutropeniaEnrichmentTCIRG10.62
999Coloboma of choroid and retinaEnrichmentABCB60.62
1000Genetic motor neuron diseaseEnrichmentTRPV40.62
1001Hereditary persistence of fetal hemoglobin-sickle cell disease syndromeEnrichmentHBB0.62
1002Hereditary pulmonary alveolar proteinosisEnrichmentABCA30.62
1003Hereditary retinal dystrophyEnrichmentSLC24A10.61
1004Fundus dystrophyEnrichmentSLC24A10.61
1005Beckwith-wiedemann syndromeEnrichmentRYR1, TRPV40.61
1006Neuromuscular diseaseEnrichmentRYR1, TRPV40.61
1007Developmental dysplasia of the hip 1EnrichmentPSMC30.56
1008Coloboma of optic nerveEnrichmentABCB60.56
1009Hypokalemic periodic paralysis, type 1EnrichmentCLCN10.56
1010Myopathy, centronuclear, 1EnrichmentRYR10.56
1011Cowden syndrome 1EnrichmentLDLR0.56
1012Wolf-hirschhorn syndromeEnrichmentLETM10.56
1013Hyperinsulinemic hypoglycemia, familial, 1EnrichmentKCNJ110.56
1014Peroxisome biogenesis disorder 1aEnrichmentPEX30.56
1015Pierre robin syndromeEnrichmentATP2B10.56
1016Metachromatic leukodystrophyEnrichmentCLCN10.56
1017Deafness, autosomal recessive 12EnrichmentATP2B20.56
1018Kleefstra syndrome 1EnrichmentABCC90.56
1019Inflammatory bowel disease 25, autosomal recessiveEnrichmentRIPK10.56
1020Inflammatory myofibroblastic tumorEnrichmentCLTC0.56
1021Pain disorderEnrichmentHFE0.56
1022Adrenocortical carcinomaEnrichmentPRKAR1A0.56
1023Il10-related early-onset inflammatory bowel diseaseEnrichmentRIPK10.56
1024HypertrichosisEnrichmentKCNJ110.56
1025Early-onset sutural cataractEnrichmentMIP0.56
1026Syndromic rod-cone dystrophyEnrichmentABCA40.56
1027Nonsyndromic genetic hyperinsulinismEnrichmentKCNJ110.56
1028Eye diseaseEnrichmentABCA4, ABCC6, TRPM60.55
1029Nephrotic syndromeEnrichmentCTNS0.53
1030Fetal akinesia deformation sequence 1EnrichmentATP2B3, NALCN, RYR10.51
1031Oculopharyngodistal myopathy 1EnrichmentABCD30.50
1032Epilepsy, familial focal, with variable foci 1EnrichmentCLCNKB0.50
1033BrachydactylyEnrichmentGNAS0.50
1034Alzheimer's disease 1EnrichmentHFE0.50
1035Renal cell carcinoma with mit translocationsEnrichmentCLTC0.50
1036Pilomyxoid astrocytomaEnrichmentRAF10.50
1037Hemolytic anemiaEnrichmentHBB0.50
1038Early-onset autosomal dominant alzheimer diseaseEnrichmentABCA70.50
1039Myocardial infarctionEnrichmentCLCN1, PSMA60.49
1040Skin diseaseEnrichmentABCA12, CLCN60.49
1041Arthrogryposis, distal, type 1aEnrichmentNALCN0.45
1042Melanocytic nevus syndrome, congenitalEnrichmentRAF10.45
1043Fetal hemoglobin quantitative trait locus 1EnrichmentHBB0.45
1044Myopathy, tubular aggregate, 1EnrichmentCASQ10.45
1045Spastic paraplegia 4, autosomal dominantEnrichmentGNAS0.45
1046Fanconi anemia, complementation group cEnrichmentABCC90.45
1047Multiple pterygium syndrome, lethal typeEnrichmentRYR10.45
1048Immunodeficiency 47EnrichmentATP6AP10.45
1049Severe congenital neutropeniaEnrichmentTCIRG10.45
1050Congenital muscular dystrophyEnrichmentRYR10.45
1051MyocarditisEnrichmentABCD10.45
1052Choreatic diseaseEnrichmentAFG3L20.45
1053Permanent neonatal diabetes mellitusEnrichmentKCNJ110.45
1054Zellweger spectrum disorderEnrichmentPEX190.45
1055Isolated split hand-split foot malformationEnrichmentSEM10.45
1056Early-onset posterior polar cataractEnrichmentMIP0.45
1057EpilepsyEnrichmentATP1A2, ATP1A3, SLC2A10.45
1058MyopathyEnrichmentANO5, CLCN1, RYR10.45
1059Developmental and epileptic encephalopathy 1EnrichmentSLC2A10.43
1060Distal arthrogryposisEnrichmentATP2B3, NALCN, RYR10.41
1061Vas deferens, congenital bilateral aplasia ofEnrichmentCFTR0.41
1062Inflammatory bowel disease 1EnrichmentMYO5B0.41
1063Arrhythmogenic right ventricular dysplasia, familial, 9EnrichmentPLN0.41
1064Loeys-dietz syndromeEnrichmentABCA30.41
1065Progressive non-fluent aphasiaEnrichmentVCP0.41
1066Primary hyperaldosteronismEnrichmentGNAS0.41
1067Behavioral variant of frontotemporal dementiaEnrichmentVCP0.41
1068Juvenile amyotrophic lateral sclerosisEnrichmentERLIN10.41
1069Hydrops fetalis, nonimmuneEnrichmentHBA1, HBA20.39
1070Cat eye syndromeEnrichmentABCB60.38
1071Frontotemporal dementia and/or amyotrophic lateral sclerosis 1EnrichmentVCP0.38
1072Autosomal dominant macrothrombocytopeniaEnrichmentTRPM70.38
1073Autosomal non-syndromic agammaglobulinemiaEnrichmentLRRC8A0.38
1074Primary bone dysplasiaEnrichmentTRPV40.38
1075Migraine with or without aura 1EnrichmentCLCN10.35
1076Epilepsy, myoclonic juvenileEnrichmentCLCN20.35
1077Immune deficiency diseaseEnrichmentRIPK10.35
1078Epilepsy, idiopathic generalizedEnrichmentABCB10.35
1079Leukemia, acute lymphoblasticEnrichmentGNB10.35
1080Myelodysplastic syndromeEnrichmentGNB10.35
1081NanophthalmosEnrichmentBEST10.35
1082Combined immunodeficiencyEnrichmentTFRC0.35
1083Movement diseaseEnrichmentCLCN60.35
1084IchthyosisEnrichmentABCA120.35
1085Combined t cell and b cell immunodeficiencyEnrichmentTFRC0.35
1086Diabetes mellitusEnrichmentKCNJ110.35
1087Early-onset lamellar cataractEnrichmentMIP0.35
1088Combined t and b cell immunodeficiencyEnrichmentTFRC0.35
1089Hirschsprung disease 1EnrichmentABCD1, ATP7A0.34
1090MicrocephalyEnrichmentATP2B3, ATP6V0A1, CAMK2B, GNB1, NPC2, PSMC3, SLC2A10.32
1091Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentRYR20.32
1092Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentRYR20.32
1093Osteogenesis imperfecta, type ivEnrichmentMBTPS20.29
1094Pulmonary disease, chronic obstructiveEnrichmentHMOX10.29
1095Acute promyelocytic leukemiaEnrichmentPRKAR1A0.29
1096Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentABCG5, FLVCR10.28
1097Multiple sclerosisEnrichmentNR1H30.27
1098Cone-rod dystrophy 6EnrichmentABCA40.27
1099Familial isolated dilated cardiomyopathyEnrichmentABCC9, PLN, RAF10.27
1100West syndromeEnrichmentSLC2A10.26
1101Familial thoracic aortic aneurysm and aortic dissectionEnrichmentSLC2A100.26
1102Coloboma of maculaEnrichmentABCB60.25
1103Polydactyly, postaxial, type a1EnrichmentATP6V1B10.25
1104Congenital myopathy 4a, autosomal dominantEnrichmentRYR10.25
1105Atypical hemolytic-uremic syndromeEnrichmentHBB0.25
1106Neuronal ceroid lipofuscinosisEnrichmentCLN30.25
1107Lynch syndromeEnrichmentCFTR0.25
1108Noonan syndrome and noonan-related syndromeEnrichmentRAF10.25
1109Creatine phosphokinase, elevated serumEnrichmentANO50.24
1110Hydrocephalus, congenital, 1EnrichmentATP1A30.24
1111Isolated elevated serum creatine phosphokinase levelsEnrichmentANO50.24
1112Isolated congenital microcephalyEnrichmentRAB11A0.24
1113Cleft palate, isolatedEnrichmentGNB10.22
1114Cataract 44EnrichmentMIP0.22
1115Patent foramen ovaleEnrichmentPSMC30.20
1116Polycystic kidney diseaseEnrichmentANO50.20
1117Early-onset nuclear cataractEnrichmentMIP0.20
1118Congenital myopathyEnrichmentRYR10.19
1119Autosomal recessive limb-girdle muscular dystrophyEnrichmentANO50.19
1120Complex neurodevelopmental disorderEnrichmentATP2B1, ATP6V0A1, ATP9A, CLCN3, GNB2, PSMD120.19
1121Macs syndromeEnrichmentABCB60.18
1122Maturity-onset diabetes of the youngEnrichmentKCNJ110.18
1123Focal segmental glomerulosclerosisEnrichmentTRPC60.18
1124Centronuclear myopathyEnrichmentRYR10.17
1125Attention deficit-hyperactivity disorderEnrichmentGNB50.16
1126Noonan syndrome 1EnrichmentRAF10.15
1127Brittle bone disorderEnrichmentBMP10.15
1128Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF10.14
1129Familial atrial fibrillationEnrichmentABCC90.14
1130Cone dystrophyEnrichmentABCA40.14
1131Muscular dystrophyEnrichmentANO50.14
1132Jeune thoracic dystrophyEnrichmentFLVCR10.13
1133Asphyxiating thoracic dystrophyEnrichmentFLVCR10.11
1134Non-immune hydrops fetalisEnrichmentHBA20.09
1135Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentNIPA1, VCP0.09
1136Autosomal recessive non-syndromic intellectual disabilityEnrichmentABCA2, TUSC30.09
1137Usher syndromeEnrichmentSLC9B10.08
1138Familial hypertrophic cardiomyopathyEnrichmentRAF10.08
1139Male infertilityEnrichmentCFTR0.07
1140Genetic steroid-resistant nephrotic syndromeEnrichmentTRPC60.07
1141Cone-rod dystrophy 2EnrichmentABCA4, CLN30.05
1142Charcot-marie-tooth diseaseEnrichmentTRPV40.05
1143Dilated cardiomyopathyEnrichmentPLN, RAF10.03
1144Myeloma, multipleEnrichmentSGK10.02
1145Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentCFTR0.02
1146Primary ovarian insufficiencyEnrichmentRYR30.02
1147Primary ciliary dyskinesiaEnrichmentPRKAR1B0.01
1148Mitochondrial diseaseEnrichmentSPG70.00
1149Leber plus diseaseEnrichmentABCA40.00