Attachment 3 Chronic Kidney Disease Gene Panel List.xlsx

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Q301--Chronic Kidney Disease Gene Panel Test Federal contract opportunity
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36C24823Q0231
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Department of Veterans Affairs Veterans Health Administration Veterans Integrated Service Network 8

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Sheet1

Condition NameGene
17-Alpha-Hydroxylase 17/20 -Lyase DeficiencyCYP17A1
5-Oxoprolinase De�ciencyOPLAH
Acroosteolysis, DominantNOTCH2
Acro-Renal-Ocular SyndromeSALL4
Adenine Phosphoribosyltransferase DeficiencyAPRT
Alagille Syndrome, Type 1, 2JAG1
Alagille Syndrome, Type 1, 2NOTCH2
AlkaptonuriaHGD
Alport SyndromeCOL4A3
Alport SyndromeCOL4A4
Alport SyndromeCOL4A5
Alstrom SyndromeALMS1
Amelogenesis Imperfecta Type 1G, 2A3FAM20A
Amelogenesis Imperfecta Type 1G, 2A3WDR72
AmyloidosisAPOA1
AmyloidosisAPOC2
AmyloidosisB2M
AmyloidosisGSN
AmyloidosisLYZ
AmyloidosisTTR
Antley-Bixler SyndromeFGFR2
Apert SyndromeFGFR2
Apparent Mineralocorticoid ExcessHSD11B2
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual DevelopmentPPP3CA
Atypical hemolytic uremic syndrome (aHUS)CFH
Atypical hemolytic uremic syndrome (aHUS)CFHR5
Atypical hemolytic uremic syndrome (aHUS)CFI
Atypical hemolytic uremic syndrome (aHUS)THBD
Atypical hemolytic uremic syndrome (aHUS)DGKE
Atypical hemolytic uremic syndrome (aHUS)C3
Atypical hemolytic uremic syndrome (aHUS)PLG
Autoinflammation, Antibody Deficiency, and Immune Dysregulation SyndromePLCG2
Axenfeld-Rieger Syndrome, Type 3FOXC1
Baraitser-Winter Syndrome, Type 1ACTB
Bardet-Biedl Syndromes, Type 1-12, 14-18, 21ARL6
Bardet-Biedl Syndromes, Type 1-12, 14-18, 21BBIP1
Bardet-Biedl Syndromes, Type 1-12, 14-18, 21BBS1
Bardet-Biedl Syndromes, Type 1-12, 14-18, 21BBS10
Bardet-Biedl Syndromes, Type 1-12, 14-18, 21BBS12
Bardet-Biedl Syndromes, Type 1-12, 14-18, 21BBS2
Bardet-Biedl Syndromes, Type 1-12, 14-18, 21BBS4
Bardet-Biedl Syndromes, Type 1-12, 14-18, 21BBS5
Bardet-Biedl Syndromes, Type 1-12, 14-18, 21BBS7
Bardet-Biedl Syndromes, Type 1-12, 14-18, 21BBS9
Bardet-Biedl Syndromes, Type 1-12, 14-18, 21C8ORF37
Bardet-Biedl Syndromes, Type 1-12, 14-18, 21CEP290
Bardet-Biedl Syndromes, Type 1-12, 14-18, 21LZTFL1
Bardet-Biedl Syndromes, Type 1-12, 14-18, 21MKKS
Bardet-Biedl Syndromes, Type 1-12, 14-18, 21SDCCAG8
Bardet-Biedl Syndromes, Type 1-12, 14-18, 21TRIM32
Bardet-Biedl Syndromes, Type 1-12, 14-18, 21TTC8
Bardet-Biedl Syndromes, Type 1-12, 14-18, 21WDPCP
Bartter Syndrome, Type 1, 2, 3/4B, 4aBSND
Bartter Syndrome, Type 1, 2, 3/4B, 4aCLCNKB
Bartter Syndrome, Type 1, 2, 3/4B, 4aKCNJ1
Bartter Syndrome, Type 1, 2, 3/4B, 4aSLC12A1
Beckwith-Wiedemann SyndromeCDKN1C
Beckwith-Wiedemann SyndromeNSD1
Beta-HemoglobinopathiesHBB
Bifid Nose with or without Anorectal and Renal AnomaliesFREM1
Birt-Hogg-Dube SyndromeFLCN
Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex and Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)CHRNA3
Branchiooculofacial SyndromeTFAP2A
Branchio-Oto-Renal Syndrome, Type 1, 2SIX1
Branchio-Oto-Renal Syndrome, Type 1, 2EYA1
Branchio-Oto-Renal Syndrome, Type 1, 2SIX5
Burn-McKeown SyndromeTXNL4A
C3 GlomerulopathyC3
C3 GlomerulopathyCFHR5
C3 GlomerulopathyCFI
C3 GlomerulopathyCFH
C3 GlomerulopathyDGKE
Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)BMP4
Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)BMP7
Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)CHD1L
Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)CRKL
Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)GDNF
Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)GREM1
Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)ROBO2
Cardiofaciocutaneous SyndromeKRAS
Carnitine Palmitoyltransferase 2 DeficiencyCPT2
Cataract, Juvenile, with Microcornia and GlucosuriaSLC16A12
Cenani-Lenz Syndactyly SyndromeLRP4
Cerebral Creatine Deficiency Syndrome 3GATM
Pulmonary Venoocclusive Disease 1INF2
CHARGE SyndromeCHD7
CHARGE SyndromeSEMA3E
CHILD SyndromeCHILD Syndrome
Chondrodysplasia PunctataEBP
Ciliopathies, RPGRIP1L-RelatedRPGRIP1L
COACH SyndromeTMEM67
Coenzyme Q10 Deficiency, Primary, Type 1, 2, 3, 6COQ2
Coenzyme Q10 Deficiency, Primary, Type 1, 2, 3, 6COQ6
Coenzyme Q10 Deficiency, Primary, Type 1, 2, 3, 6PDSS1
Coenzyme Q10 Deficiency, Primary, Type 1, 2, 3, 6PDSS2
Combined Oxidative Phosphorylation Deficiency, Type 11RMND1
Complement Component 5 DeficiencyC5
Complement Factor H, I De�ciencyCFH
Complement Factor H, I De�ciencyCFI
Congenital Adrenal Hyperplasia due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency and 11-Beta-Hydroxylase DeficiencyCYP11B1
Congenital Adrenal Hyperplasia due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency and 11-Beta-Hydroxylase DeficiencyHSD3B2
Congenital Adrenal Hypoplasia with Hypogonadotropic HypogonadismNR0B1
Congenital Anomalies of the Kidney and Urinary Tract Syndrome with or without Hearing Loss, Abnormal Ears, or Developmental Delay (CAKUTHEDPBX1
Congenital Disorder of Glycosylation, Type 1A, 1H, 1K, 1LALG1
Congenital Disorder of Glycosylation, Type 1A, 1H, 1K, 1LALG8
Congenital Disorder of Glycosylation, Type 1A, 1H, 1K, 1LALG9
Congenital Disorder of Glycosylation, Type 1A, 1H, 1K, 1LPMM2
Congenital HyperinsulinismKCNJ11
Cornelia de Lange SyndromeSMC1A
Corticosterone Methyloxidase DeficiencyCYP11B2
Cranioectodermal Dysplasia, Type 1, 3IFT122
Cranioectodermal Dysplasia, Type 1, 3IFT43
Cranioectodermal Dysplasia, Type 1, 3WDR19
Currarino SyndromeMNX1
CYP11A1 De�ciency SyndromeCYP11A1
CystinosisCTNS
CystinuriaSLC3A1
CystinuriaSLC7A9
Dent DiseaseCLCN5
Dent DiseaseOCRL
Denys-Drash SyndromeWT1
Diabetes Insipidus, NephrogenicAQP2
Diabetes Insipidus, NephrogenicAVPR2
Diabetes insipidus, Neurohypophyseal Diabetes MellitusAVP
Diabetes insipidus, Neurohypophyseal Diabetes MellitusGCK
Diabetes insipidus, Neurohypophyseal Diabetes MellitusHNF1A
Diabetes insipidus, Neurohypophyseal Diabetes MellitusPAX4
Diabetes Mellitus, Juvenile-OnsetPCBD1
Diabetes Mellitus, Neonatal, with Congenital HypothyroidismGLIS3
Diabetes Mellitus, Noninsulin-DependentSLC2A2
Diamond-Blackfan Anemia,Type 1, 3-11RPL11
Diamond-Blackfan Anemia,Type 1, 3-11RPL26
Diamond-Blackfan Anemia,Type 1, 3-11RPL35A
Diamond-Blackfan Anemia,Type 1, 3-11RPL5
Diamond-Blackfan Anemia,Type 1, 3-11RPS10
Diamond-Blackfan Anemia,Type 1, 3-11RPS17
Diamond-Blackfan Anemia,Type 1, 3-11RPS19
Diamond-Blackfan Anemia,Type 1, 3-11RPS24
Diamond-Blackfan Anemia,Type 1, 3-11RPS26
Diamond-Blackfan Anemia,Type 1, 3-11RPS7
Donnai-Barrow SyndromeLRP2
Duane-Radial Ray SyndromeSALL4
Eagle-Barrett SyndromeCHRM3
Ectrodactyly, Ectodermal Dysplasia,and Cleft Lip/Palate Syndrome 3TP63
Encephalocraniocutaneous LipomatosisFGFR1
Epilepsy, Progressive Myoclonic, 4 with or without Renal FailureSCARB2
Epstein SyndromeMYH9
Fabry DiseaseGLA
Familial Cold-Induced In�ammatory Syndrome, Type 1, 3NLRP3
Familial Cold-Induced In�ammatory Syndrome, Type 1, 3PLCG2
Familial Dysautonomia, Hereditary Sensory and Autonomic Neuropathy Type 3ELP1
Familial Mediterranean FeverMEFV
Fanconi Anemia, Group A, B, C, D2, E, F, G, I, L, M, N, O, PFANCA
Fanconi Anemia, Group A, B, C, D2, E, F, G, I, L, M, N, O, PFANCB
Fanconi Anemia, Group A, B, C, D2, E, F, G, I, L, M, N, O, PFANCC
Fanconi Anemia, Group A, B, C, D2, E, F, G, I, L, M, N, O, PFANCD2
Fanconi Anemia, Group A, B, C, D2, E, F, G, I, L, M, N, O, PFANCE
Fanconi Anemia, Group A, B, C, D2, E, F, G, I, L, M, N, O, PFANCF
Fanconi Anemia, Group A, B, C, D2, E, F, G, I, L, M, N, O, PFANCG
Fanconi Anemia, Group A, B, C, D2, E, F, G, I, L, M, N, O, PFANCI
Fanconi Anemia, Group A, B, C, D2, E, F, G, I, L, M, N, O, PFANCL
Fanconi Anemia, Group A, B, C, D2, E, F, G, I, L, M, N, O, PFANCM
Fanconi Anemia, Group A, B, C, D2, E, F, G, I, L, M, N, O, PPALB2
Fanconi Anemia, Group A, B, C, D2, E, F, G, I, L, M, N, O, PRAD51C
Fanconi Anemia, Group A, B, C, D2, E, F, G, I, L, M, N, O, PSLX4
Fanconi Renotubular Syndrome, Type 1, 2, 4GATM
Fanconi Renotubular Syndrome, Type 1, 2, 4HNF4A
Fanconi Renotubular Syndrome, Type 1, 2, 4SLC34A1
Fanconi-Bickel SyndromeSLC2A2
Fechtner SyndromeMYH9
Feingold SyndromeMYCN
Floating-Harbor SyndromeSRCAP
Focal Segmental ACTN4 Glomerulosclerosis, Type 2, 4, 5, 6, 7ACTN4
Focal Segmental ACTN4 Glomerulosclerosis, Type 2, 4, 5, 6, 7ALG13
Focal Segmental ACTN4 Glomerulosclerosis, Type 2, 4, 5, 6, 7APOL1
Focal Segmental ACTN4 Glomerulosclerosis, Type 2, 4, 5, 6, 7CD2AP
Focal Segmental ACTN4 Glomerulosclerosis, Type 2, 4, 5, 6, 7INF2
Focal Segmental ACTN4 Glomerulosclerosis, Type 2, 4, 5, 6, 7MYO1E
Focal Segmental ACTN4 Glomerulosclerosis, Type 2, 4, 5, 6, 7PAX2
Focal Segmental ACTN4 Glomerulosclerosis, Type 2, 4, 5, 6, 7PMM2
Focal Segmental ACTN4 Glomerulosclerosis, Type 2, 4, 5, 6, 7SYNPO
Focal Segmental ACTN4 Glomerulosclerosis, Type 2, 4, 5, 6, 7TRPC6
Fraser SyndromeFRAS1
Fraser SyndromeFREM2
Fraser SyndromeGRIP1
Fraser SyndromeWT1
Galloway-Mowat SyndromeTP53RK
Galloway-Mowat SyndromeWDR73
Genitopatellar SyndromeKAT6B
Gillessen Kaesbach Nishimura Syndrome (GIKANIS)ALG9
Gitelman SyndromeSLC12A3
Glomerulocystic Kidney DiseaseHNF1B
Glomerulocystic Kidney DiseaseREN
Glomerulocystic Kidney DiseaseUMOD
Glomerulopathy with Fibronectin Deposits 2FN1
Glucocorticoid Resistance, GeneralizedNR3C1
Glycogen Storage Disease, Type 1A, 1B/1C, 11G6PC
Glycogen Storage Disease, Type 1A, 1B/1C, 11LDHA
Glycogen Storage Disease, Type 1A, 1B/1C, 11SLC37A4
Golabi-Behmel Syndrome, Type 2OFD1
Hajdu-Cheney SyndromeNOTCH2
Hand-Foot-Uterus SyndromeHOXA13
Hartnup DisorderSLC6A19
Hereditary Angiopathy with Nephropathy, Aneurysms and Muscle Cramps (HANAC)COL4A1
Hereditary Renal AmyloidosisFGA
Hermansky-Pudlak Syndrome 1HPS1
Hyperaldosteronism, Familial, Type 1, 2, 3, 4CACNA1H
Hyperaldosteronism, Familial, Type 1, 2, 3, 4CLCN2
Hyperaldosteronism, Familial, Type 1, 2, 3, 4CYP11B1
Hyperaldosteronism, Familial, Type 1, 2, 3, 4CYP11B2
Hyperaldosteronism, Familial, Type 1, 2, 3, 4KCNJ5
Hypercalcemia Infantile, Type 1, 2CYP24A1
Hypercalcemia Infantile, Type 1, 2SLC34A1
Hypercalciuria, Hypophosphatemic RicketsADCY10
Hypercalciuria, Hypophosphatemic RicketsSLC34A3
HyperglycinuriaSLC6A19
HyperglycinuriaSLC36A2
HyperglycinuriaSLC6A20
Hyperinsulinemic Hypoglycemia, Diabetes MellitusABCC8
Hyperparathyroidism 2CDC73
Hyperphenylalaninemia, BH4-De�cientPCBD1
Hyperphosphatemic Familial Tumoral CalcinosisGALNT3
Hyperphosphatemic Tumoral CalcinosisKL
Hyperprolinemia, Type 1PRODH
Hyperuricemic NephropathyREN
Hyperuricemic NephropathySARS2
Hyperuricemic NephropathyUMOD
Hypocalciuric Hypercalcemia, FamilialAP2S1
Hypocalciuric Hypercalcemia, FamilialCASR
Hypocalciuric Hypercalcemia, FamilialGNA11
HypocalcemiaCASR
Hypogonadotropic hypogonadism 1ANOS1
Hypokalemic Periodic Paralysis, Type 1, 2CACNA1S
Hypokalemic Periodic Paralysis, Type 1, 2SCN4A
Hypomagnesemia Type 1-6CLDN16
Hypomagnesemia Type 1-6CLDN19
Hypomagnesemia Type 1-6CNNM2
Hypomagnesemia Type 1-6CNNM2
Hypomagnesemia Type 1-6EGF
Hypomagnesemia Type 1-6FXYD
Hypomagnesemia Type 1-6KCNA1
Hypomagnesemia Type 1-6TRPM6
Hypoparathyroidism, Familial IsolatedGCM2
Hypoparathyroidism, Sensorineural Deafness, and Renal DysplasiaGATA3
HypophosphatasiaALPL
Hypophosphatemic RicketsCLCN5
Hypophosphatemic RicketsDMP1
Hypophosphatemic RicketsENPP1
Hypophosphatemic RicketsFGF23
Hypophosphatemic RicketsPHEX
Hypophosphatemic RicketsVDR
Hypotrichosis-Lymphedema- Telangiectasia-Renal Defect SyndromeSOX18
Hypouricemia, Renal, Type 1, 2SLC22A12
Hypouricemia, Renal, Type 1, 2SLC2A9
IMAGE SyndromeCDKN1C
Interstitial Lung Disease with Nephrotic Syndrome and Epidermolysis BullosaITGA3
ITGA3FAN1
IPEX SyndromeFOXP3
Isolated Renal HypoplasiaPAX2
IVIC SyndromeSALL4
Joubert Syndrome Type 3, 4, 5, 6, 10 with Oculoreneal DefectAHI1
Joubert Syndrome Type 3, 4, 5, 6, 10 with Oculoreneal DefectCEP290
Joubert Syndrome Type 3, 4, 5, 6, 10 with Oculoreneal DefectNPHP1
Joubert Syndrome Type 3, 4, 5, 6, 10 with Oculoreneal DefectOFD1
Joubert Syndrome Type 3, 4, 5, 6, 10 with Oculoreneal DefectTMEM67
Junctional Epidermolysis Bullosa- Pyloric Atresia SyndromeITGA6
Junctional Epidermolysis Bullosa- Pyloric Atresia SyndromeITGB4
Kallmann SyndromeANOS1
Kallmann SyndromeFGFR1
Kallmann SyndromePROKR2
Kelley-Seegmiller SyndromeHPRT1
Koolen-De Vries SyndromeKANSL1
LADD SyndromeFGF10
LADD SyndromeFGFR2
Lesch-Nyhan SyndromeHPRT1
Liddle Syndrome, Type 1, 2SCNN1B
Liddle Syndrome, Type 1, 2SCNN1G
Lipodystrophy Congenital Generalized, Type 1, 2, 3AGPAT2
Lipodystrophy Congenital Generalized, Type 1, 2, 3BSCL2
Lipodystrophy Congenital Generalized, Type 1, 2, 3CAV1
Lipodystrophy, Familial Partial, Type 7CAV1
Lipoid Adrenal HyperplasiaSTAR
Lipoprotein GlomerulopathyAPOE
LMNA-Related DisordersLMNA
Lowe SyndromeOCRL
LRP5-Related DisordersLRP5
Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes MellitusFOXC2
Lysinuric Protein IntoleranceSLC7A7
Mandibulfacial Dysostosis with AlopeciaEDNRA
Maturity Onset Diabetes of the Young (MODY), Type 2-4, 6-9, 11BLK
Maturity Onset Diabetes of the Young (MODY), Type 2-4, 6-9, 11CEL
Maturity Onset Diabetes of the Young (MODY), Type 2-4, 6-9, 11GCK
Maturity Onset Diabetes of the Young (MODY), Type 2-4, 6-9, 11HNF1A
Maturity Onset Diabetes of the Young (MODY), Type 2-4, 6-9, 11KLF11
Maturity Onset Diabetes of the Young (MODY), Type 2-4, 6-9, 11NEUROD1
Maturity Onset Diabetes of the Young (MODY), Type 2-4, 6-9, 11PAX4
Maturity Onset Diabetes of the Young (MODY), Type 2-4, 6-9, 11PDX1
Meckel Syndrome, Type 3,4,7CEP290
Meckel Syndrome, Type 3,4,7NPHP3
Meckel Syndrome, Type 3,4,7TMEM67
Medullary Cystic Kidney DiseaseUMOD
Megaloblastic Anemia 1CUBN
Megaloblastic Anemia 1AMN
Metaphyseal Chondrodysplasia, Murk Jansen TypePTH1R
Methylmalonic Acidemia, Type mut0MUT
Methylmalonic Aciduria and Homocystinuria, Type cblCMMACHC
Mevalonic AciduriaMVK
Microphthalmia, syndromic 6BMP4
Mitochondrial Complex 3 DeficiencyBCS1L
Mitochondrial Complex 3 DeficiencyUQCC2
Mitochondrial Complex 4 De�ciencyAPOPT1
Mitochondrial Complex 4 De�ciency(COA8)
Mitochondrial Complex 4 De�ciencyCOX10
Mitochondrial Complex 4 De�ciencyCOX14
Mitochondrial Complex 4 De�ciencyCOX20
Mitochondrial Complex 4 De�ciencyCOX6B1
Mitochondrial Complex 4 De�ciencyCOX8A
Mitochondrial Complex 4 De�ciencyFASTKD2
Mitochondrial Complex 4 De�ciencyPET100
Mitochondrial Complex 4 De�ciencySCO1
Mitochondrial Complex 4 De�ciencyTACO1
Mitochondrial DNA Depletion Syndrome 8ARRM2B
Muckle-Wells SyndromeNLRP3
Mullerian Aplasia and HyperandrogenismWNT4
Multicentric Carpotarsal Osteolysis with or without NephropathyMAFB
Myoglobinuria, Acute RecurrentLPIN1
Nail-Patella SyndromeLMX1B
NephrolithiasisCLCN5
NephrolithiasisFGF23
NephrolithiasisSLC26A1
Nephrolithiasis/Osteoporosis,Hypophosphatemic 1 and 2SLC34A1
Nephrolithiasis/Osteoporosis,Hypophosphatemic 1 and 2SLC9A3R1
Nephronophthisis 1–4, 7, 9, 11–13, 15, 16, 19ANKS6
Nephronophthisis 1–4, 7, 9, 11–13, 15, 16, 19CEP164
Nephronophthisis 1–4, 7, 9, 11–13, 15, 16, 19DCDC2
Nephronophthisis 1–4, 7, 9, 11–13, 15, 16, 19GLIS2
Nephronophthisis 1–4, 7, 9, 11–13, 15, 16, 19INVS
Nephronophthisis 1–4, 7, 9, 11–13, 15, 16, 19NEK8
Nephronophthisis 1–4, 7, 9, 11–13, 15, 16, 19NPHP1
Nephronophthisis 1–4, 7, 9, 11–13, 15, 16, 19NPHP3
Nephronophthisis 1–4, 7, 9, 11–13, 15, 16, 19NPHP4
Nephronophthisis 1–4, 7, 9, 11–13, 15, 16, 19SLC41A1
Nephronophthisis 1–4, 7, 9, 11–13, 15, 16, 19TMEM67
Nephronophthisis 1–4, 7, 9, 11–13, 15, 16, 19TTC21B
Nephronophthisis 1–4, 7, 9, 11–13, 15, 16, 19WDR19
Nephronophthisis 1–4, 7, 9, 11–13, 15, 16, 19XPNPEP3
Nephropathy due to CFHR5 DeficiencyCFHR5
Nephropathy with Pretibial Epidermolysis Bullosa and DeafnessCD151
Nephrotic SyndromeDLC1
Nephrotic SyndromeITSN2
Nephrotic SyndromeKANK1
Nephrotic SyndromeTNS2
Nephrotic Syndrome Type 2-7, 15, Steroid sensitive, CongenitalDGKE
Nephrotic Syndrome Type 2-7, 15, Steroid sensitive, CongenitalLAMB2
Nephrotic Syndrome Type 2-7, 15, Steroid sensitive, CongenitalMAGI2
Nephrotic Syndrome Type 2-7, 15, Steroid sensitive, CongenitalNPHS1
Nephrotic Syndrome Type 2-7, 15, Steroid sensitive, CongenitalNPHS2
Nephrotic Syndrome Type 2-7, 15, Steroid sensitive, CongenitalPLCE1
Nephrotic Syndrome Type 2-7, 15, Steroid sensitive, CongenitalPLCG2
Nephrotic Syndrome Type 2-7, 15, Steroid sensitive, CongenitalPTPRO
Nephrotic Syndrome Type 2-7, 15, Steroid sensitive, CongenitalWT1
Neuro�bromatosis, Type 1NF1
Noonan SyndromeBRAF
Noonan SyndromePTPN11
Norum DiseaseLCAT
ObesityMC4R
ObesityUCP3
Ochoa SyndromeHPSE2
Orofaciodigital Syndrome 6, ICPLANE1
Orofaciodigital Syndrome 6, IOFD1
Pallister-Hall SyndromeGLI3
Papillorenal SyndromePAX2
Permanent Neonatal Diabetes MellitusINS
Permanent Neonatal Diabetes MellitusKCNJ11
Pfeiffer Syndrome Type 3FGFR2
Phosphoglycerate Kinase 1 DeficiencyPGK1
Phosphoribosylpyrophosphate Synthetase SuperactivityPRPS1
Pierson SyndromeLAMB2
Plasminogen De�ciency, Type 1PLG
Polycystic Kidney and/or Polycystic Liver DiseaseALG9
Polycystic Kidney and/or Polycystic Liver DiseaseGANAB
Polycystic Kidney Disease (PKD), 1 and 2, Autosomal DominantPKD1
Polycystic Kidney Disease (PKD), 1 and 2, Autosomal DominantPKD2
Polycystic Kidney Disease, Autosomal RecessivePKHD1
Polycystic Liver Disease (PLD), 1–3ALG8
Polycystic Liver Disease (PLD), 1–3PRKCSH
Polycystic Liver Disease (PLD), 1–3SEC63
Primary Hyperoxaluria Type 1, 2, 3AGXT
Primary Hyperoxaluria Type 1, 2, 3GRHPR
Primary Hyperoxaluria Type 1, 2, 3HOGA1
Prune Belly SyndromeCHRM3
Pseudohypoaldosteronism Type I, Autosomal Dominant Hypertension, Early-OnseNR3C2
Pseudohypoaldosteronism,Type 1, 1B, 2B, 2C, 2D, 2ECUL3
Pseudohypoaldosteronism,Type 1, 1B, 2B, 2C, 2D, 2EKLHL3
Pseudohypoaldosteronism,Type 1, 1B, 2B, 2C, 2D, 2ESCNN1A
Pseudohypoaldosteronism,Type 1, 1B, 2B, 2C, 2D, 2ESCNN1B
Pseudohypoaldosteronism,Type 1, 1B, 2B, 2C, 2D, 2ESCNN1G
Pseudohypoaldosteronism,Type 1, 1B, 2B, 2C, 2D, 2EWNK1
Pseudohypoaldosteronism,Type 1, 1B, 2B, 2C, 2D, 2EWNK4
Pseudohypoparathyroidism Type 1BGNAS
Pseudohypoparathyroidism Type 1BSTX16
Pseudoxanthoma Elasticum Arterial Calci�cation, Generalized, of Infancy, 2ABCC6
Pulmonary Hypertension, Familial Primary with or without Hereditary Hemorrhagic TelangiectasiaBMPR2
Pulmonary Hypertension, Primary 2, 3, 4CAV1
Pulmonary Hypertension, Primary 2, 3, 4KCNK3
Pulmonary Hypertension, Primary 2, 3, 4SMAD9
Pulmonary venoocclusive disease 1BMPR2
Renal AgenesisRET
Renal Cysts and Diabetes SyndromeHNF1B
Renal Dysplasia, CysticBICC1
Renal GlucosuriaSLC5A1
Renal GlucosuriaSLC5A2
Renal HypertensionSLC12A2
Renal HypodysplasiaSIX2
Renal HypodysplasiaUPK3A
Renal Tubular AcidosisATP6V0A4
Renal Tubular AcidosisATP6V1B1
Renal Tubular AcidosisCA2
Renal Tubular AcidosisFOXI1
Renal Tubular AcidosisSLC4A1
Renal Tubular AcidosisSLC4A4
Renal Tubular AcidosisWDR72
Renal Tubular DiseaseNEDD4L
Renal Tubular DysgenesisACE
Renal Tubular DysgenesisAGT
Renal Tubular DysgenesisAGTR1
Renal Tubular DysgenesisREN
Renal-Hepatic-Pancreatic Dysplasia 2NEK8
Rickets due to Defect in Vitamin D 25-hydroxylationCYP2R1
Robinow SyndromeWNT5A
Robinow SyndromeROR2
Rubinstein-Taybi Syndrome, Type 1CREBBP
Scalp-Ear-Nipple SyndromeKCTD1
Schimke Immunoosseous DysplasiaSMARCAL1
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and SeSAME SyndromeKCNJ10
Senior-Loken Syndrome,Type 4, 5, 6, 7CEP290
Senior-Loken Syndrome,Type 4, 5, 6, 7INVS
Senior-Loken Syndrome,Type 4, 5, 6, 7IQCB1
Senior-Loken Syndrome,Type 4, 5, 6, 7NPHP1
Senior-Loken Syndrome,Type 4, 5, 6, 7NPHP3
Senior-Loken Syndrome,Type 4, 5, 6, 7NPHP4
Senior-Loken Syndrome,Type 4, 5, 6, 7SDCCAG8
Senior-Loken Syndrome,Type 4, 5, 6, 7WDR19
SERKAL SyndromeWNT4
Short Stature, Microcephaly, and Endocrine DysfunctionXRCC4
Short-Rib Thoracic DysplasiaIFT140
Short-Rib Thoracic DysplasiaIFT172
Short-Rib Thoracic DysplasiaWDR19
Simpson-Golabi-Behmel Syndrome, Type 1GPC3
Smith-Lemli-Opitz SyndromeDHCR7
Sneddon SyndromeADA2
Sotos Syndrome 1NSD1
Steroid-Resistant Nephrotic SyndromeALG13
Steroid-Resistant Nephrotic SyndromeSYNPO
Steroid-Resistant Nephrotic Syndrome with Focal Segmental HyalinosisARHGAP24
Sucrase-Isomaltase De�ciencySI
Susceptibility to End-Stage Renal DiseaseAPOL1
Susceptibility to GoutABCG2
Susceptibility to HypertensionSTK39
Systemic Lupus Erythematosus 16DNASE1L3
Thrombophilia due toThrombomodulin DefectTHBD
Thrombotic Thrombocytopenic Purpura, FamiliaADAMTS13
Townes-Brocks Syndrome 1SALL1
Tuberous Sclerosis 1, 2TSC1
Tuberous Sclerosis 1, 2TSC2
Tubulointerstitial Kidney Disease, Autosomal DominantHNF1B
Tubulointerstitial Kidney Disease, Autosomal DominantREN
Tubulointerstitial Kidney Disease, Autosomal DominantUMOD
Tumoral Calcinosis, HyperphosphatemicFGF23
Thyrotoxic periodic paralysis, susceptibility to, Type 2KCNJ18
Type 1 DiabetesFOXP3
Type 1 DiabetesINS
Urofacial Syndrome 1HPSE2
VACTERL association with hydrocephalusHOXD13
Vasculitis, Autoin�ammation, Immunode�ciency, and Hematologic Defects SyndromADA2
Vesicoureteral Re�ux 3SOX17
Vitamin D-Dependent Rickets, Type 1ACYP27B1
Von Hippel-Lindau SyndromeVHL
Wilson DiseaseATP7B
Wiskott-Aldrich SyndromeWAS
Wolcott-Rallison SyndromeEIF2AK3
Wolfram Syndrome Type 1, 2CISD2
Wolfram Syndrome Type 1, 2WFS1
Xanthinuria, Type 1, 2MOCOS
Xanthinuria, Type 1, 2XDH

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